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 KIAA1751 85452 broad.mit.edu 37 1 1919949 1919949 + Splice_Site SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:1919949A>T uc001aim.1 - 4 452 c.296_splice c.e4+1 p.R99_splice KIAA1751_uc009vkz.1_Splice_Site_p.R99_splice|KIAA1751_uc001ain.1_Splice_Site_p.R99_splice NM_001080484 NP_001073953 Q9C0B2 K1751_HUMAN hypothetical protein LOC85452 pancreas(1) 1 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) GCCCCAGCTCACCTCATCTTC 0.602 NA 24 61 0 0 0.00278 0 0 KIF1B 23095 broad.mit.edu 37 1 10342421 10342421 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:10342421G>C uc001aqx.3 + 15 1466 c.1264G>C c.(1264-1266)GCC>CCC p.A422P KIF1B_uc001aqv.3_Intron|KIF1B_uc001aqw.3_Intron|KIF1B_uc001aqy.2_Intron|KIF1B_uc001aqz.2_Missense_Mutation_p.A422P|KIF1B_uc001ara.2_Intron|KIF1B_uc001arb.2_Missense_Mutation_p.A408P NM_015074 NP_055889 O60333 KIF1B_HUMAN kinesin family member 1B isoform b 422 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) ATACTTGCTAGCCTCTGAGAA 0.358 NA 8 120 0 0 0.00308 0 0 PRDM2 7799 broad.mit.edu 37 1 14107413 14107413 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:14107413G>A uc001avi.2 + 8 3979 c.3123G>A c.(3121-3123)ATG>ATA p.M1041I PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.M1041I|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.M840I|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron NM_012231 NP_036363 Q13029 PRDM2_HUMAN retinoblastoma protein-binding zinc finger 1041 SH3-binding (Potential).|Pro-rich. Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) AGCCCCTGATGTCTGCCGCCT 0.408 NA 11 48 0 0 0.00245 0 0 DNAJC16 23341 broad.mit.edu 37 1 15888820 15888820 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:15888820G>A uc001aws.2 + 9 1458 c.1338G>A c.(1336-1338)GCG>GCA p.A446A DNAJC16_uc001awr.1_Silent_p.A446A|DNAJC16_uc001awt.2_Silent_p.A134A|DNAJC16_uc001awu.2_RNA NM_015291 NP_056106 Q9Y2G8 DJC16_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 16 446 Cytoplasmic (Potential). cell redox homeostasis|protein folding integral to membrane heat shock protein binding|unfolded protein binding urinary_tract(1)|lung(1)|kidney(1) 3 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) GGAAATCAGCGGTAAGCCACA 0.478 NA 32 82 0 0 0.002096 0 0 CROCC 9696 broad.mit.edu 37 1 17279852 17279852 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:17279852A>G uc001azt.2 + 21 3131 c.3062A>G c.(3061-3063)CAG>CGG p.Q1021R CROCC_uc009voz.1_Missense_Mutation_p.Q620R|CROCC_uc001azu.2_Missense_Mutation_p.Q324R NM_014675 NP_055490 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil 1021 Potential. cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity ovary(2)|breast(2)|central_nervous_system(1) 5 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) AGTCAGCTGCAGCGTGAGCAG 0.692 NA 4 5 0 0 0.000978 0 0 PADI6 353238 broad.mit.edu 37 1 17714922 17714922 + Missense_Mutation SNP C C G rs113151411 TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:17714922C>G uc001bak.1 + 7 726 c.726C>G c.(724-726)CAC>CAG p.H242Q NM_207421 NP_997304 Q6TGC4 PADI6_HUMAN peptidylarginine deiminase type 6 234 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(1) 1 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) CCGACCAGCACGCCTATACCT 0.537 NA 4 30 0 0 0.000602 0 0 PLA2G2F 64600 broad.mit.edu 37 1 20474888 20474888 + Silent SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:20474888T>A uc009vpp.1 + 5 728 c.630T>A c.(628-630)CCT>CCA p.P210P NM_022819 NP_073730 Q9BZM2 PA2GF_HUMAN phospholipase A2, group IIF 167 lipid catabolic process|phospholipid metabolic process extracellular region calcium ion binding|phospholipase A2 activity ovary(1) 1 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) CCCCCGCCCCTCCCTAGAGCC 0.652 NA 8 36 0 0 0.006214 0 0 KIF17 57576 broad.mit.edu 37 1 21009182 21009182 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:21009182C>A uc001bdr.3 - 11 2545 c.2427G>T c.(2425-2427)CGG>CGT p.R809R KIF17_uc001bdp.3_Silent_p.R87R|KIF17_uc001bdq.3_Silent_p.R87R|KIF17_uc009vpx.2_Silent_p.R179R|KIF17_uc001bds.3_Silent_p.R809R NM_020816 NP_065867 Q9P2E2 KIF17_HUMAN kinesin family member 17 isoform a 809 Potential. microtubule-based movement|protein transport cytoplasm|microtubule ATP binding ovary(3)|skin(1) 4 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) TGCTCTTGGCCCGCACTTCCT 0.632 NA 33 60 1.414e-09 1.88005e-09 0.003755 1 0 HP1BP3 50809 broad.mit.edu 37 1 21071530 21071530 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:21071530C>A uc001bdw.1 - 13 1562 c.1422G>T c.(1420-1422)CAG>CAT p.Q474H HP1BP3_uc001bdv.1_Missense_Mutation_p.Q436H|HP1BP3_uc010odh.1_Missense_Mutation_p.Q436H|HP1BP3_uc001bdy.1_Missense_Mutation_p.Q474H|HP1BP3_uc010odf.1_Missense_Mutation_p.Q133H|HP1BP3_uc010odg.1_Missense_Mutation_p.Q322H NM_016287 NP_057371 Q5SSJ5 HP1B3_HUMAN HP1-BP74 474 Lys-rich. nucleosome assembly nucleosome|nucleus DNA binding central_nervous_system(1)|skin(1) 2 all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201) TGGACCCTCTCTGCTTCACAG 0.537 NA 28 169 3.99451e-17 6.01078e-17 0.009535 1 0 EPHA8 2046 broad.mit.edu 37 1 22915542 22915542 + Silent SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:22915542G>T uc001bfx.1 + 5 1283 c.1158G>T c.(1156-1158)GTG>GTT p.V386V EPHA8_uc001bfw.2_Silent_p.V386V NM_020526 NP_065387 P29322 EPHA8_HUMAN ephrin receptor EphA8 isoform 1 precursor 386 Extracellular (Potential).|Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CCCGCTTTGTGCCCCAGCAGA 0.662 NA 6 20 8.12818e-05 9.27259e-05 0.001984 1 0 SLC30A2 7780 broad.mit.edu 37 1 26371545 26371545 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:26371545G>A uc001blh.1 - 2 431 c.214C>T c.(214-216)CGC>TGC p.R72C SLC30A2_uc001blg.1_Missense_Mutation_p.R72C NM_032513 NP_115902 Q9BRI3 ZNT2_HUMAN solute carrier family 30, member 2 isoform 2 72 Cytoplasmic (Potential). positive regulation of sequestering of zinc ion|zinc ion transport integral to membrane|late endosome|lysosomal membrane cation transmembrane transporter activity 0 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649) TACAGCTGGCGCTGGGCCTTC 0.532 NA 8 231 0 0 0.004482 0 0 CNKSR1 10256 broad.mit.edu 37 1 26509068 26509068 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:26509068G>T uc001bln.3 + 6 675 c.617G>T c.(616-618)AGT>ATT p.S206I CNKSR1_uc010oex.1_RNA|CNKSR1_uc001blm.3_Missense_Mutation_p.S206I|CNKSR1_uc009vsd.2_5'UTR|CNKSR1_uc009vse.2_5'UTR|CNKSR1_uc001blo.2_5'UTR NM_006314 NP_006305 Q969H4 CNKR1_HUMAN connector enhancer of kinase suppressor of Ras 206 PDZ. Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cell cortex|cell-cell junction protein binding, bridging lung(1)|kidney(1) 2 Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649) CAGCTGGACAGTCCATTGGTG 0.617 NSCLC(180;1396 2109 28270 30756 34275) NA 13 25 6.31663e-08 7.95241e-08 0.003163 1 0 GJB4 127534 broad.mit.edu 37 1 35227242 35227242 + Nonsense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:35227242G>A uc001bxv.1 + 2 757 c.387G>A c.(385-387)TGG>TGA p.W129* GJB4_uc001bxw.3_Nonsense_Mutation_p.W129* NM_153212 NP_694944 Q9NTQ9 CXB4_HUMAN gap junction protein, beta 4 129 Helical; (Potential). cell communication connexon complex|integral to membrane gap junction channel activity ovary(2)|central_nervous_system(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) GACTGTGGTGGACGTACTTGC 0.607 NA 20 48 0 0 0.010504 0 0 HIVEP3 59269 broad.mit.edu 37 1 41978593 41978593 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:41978593C>A uc001cgz.3 - 8 7512 c.6299G>T c.(6298-6300)GGG>GTG p.G2100V HIVEP3_uc001cha.3_Missense_Mutation_p.G2100V|HIVEP3_uc001cgy.2_RNA NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer 2100 6 X 4 AA tandem repeats of S-P-X-[RK]. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GCCATGCTCCCCCGCTGAGGG 0.701 NA 5 11 0.00198382 0.00213469 0.001984 1 0 ST3GAL3 6487 broad.mit.edu 37 1 44386499 44386499 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:44386499G>T uc001ckc.2 + 11 1114 c.937G>T c.(937-939)GGC>TGC p.G313C ST3GAL3_uc001cjz.2_Missense_Mutation_p.G328C|ST3GAL3_uc001cka.2_Intron|ST3GAL3_uc001ckb.2_Missense_Mutation_p.G382C|ST3GAL3_uc001ckd.2_Missense_Mutation_p.G367C|ST3GAL3_uc001cke.2_Missense_Mutation_p.G297C|ST3GAL3_uc001ckf.2_Missense_Mutation_p.G351C|ST3GAL3_uc001ckg.2_Intron|ST3GAL3_uc001ckh.2_Intron|ST3GAL3_uc001cki.2_Intron|ST3GAL3_uc009vwv.2_Missense_Mutation_p.G283C|ST3GAL3_uc001ckj.2_RNA|ST3GAL3_uc009vww.2_RNA|ST3GAL3_uc001ckk.2_Missense_Mutation_p.G282C|ST3GAL3_uc009vwy.2_Missense_Mutation_p.G219C|ST3GAL3_uc009vwx.2_Intron|ST3GAL3_uc001ckm.2_Intron|ST3GAL3_uc001ckl.2_Intron|ST3GAL3_uc009vwz.2_Missense_Mutation_p.G87C|ST3GAL3_uc001ckn.2_Intron|ST3GAL3_uc001ckp.2_Intron|ST3GAL3_uc001cko.2_Intron|ST3GAL3_uc009vxa.2_Missense_Mutation_p.G100C|ST3GAL3_uc001ckq.2_Intron|ST3GAL3_uc001ckr.2_Intron|ST3GAL3_uc009vxb.2_Intron NM_006279 NP_006270 Q11203 SIAT6_HUMAN sialyltransferase 6 isoform j 313 Lumenal (Potential). protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane N-acetyllactosaminide alpha-2,3-sialyltransferase activity ovary(3) 3 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0518) GGCACTACACGGCTGTGACGA 0.577 NA 4 73 3.59834e-05 4.13983e-05 0.001168 1 0 CYP4B1 1580 broad.mit.edu 37 1 47279694 47279694 + Missense_Mutation SNP G G T rs139993247 byFrequency TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:47279694G>T uc001cqm.3 + 6 815 c.731G>T c.(730-732)CGC>CTC p.R244L CYP4B1_uc009vyl.1_Missense_Mutation_p.R81L|CYP4B1_uc001cqn.3_Missense_Mutation_p.R245L|CYP4B1_uc009vym.2_Missense_Mutation_p.R230L|CYP4B1_uc010omk.1_Missense_Mutation_p.R81L|CYP4B1_uc010oml.1_Missense_Mutation_p.R82L NM_000779 NP_000770 P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, 244 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(166;0.155) CCACATGGCCGCCGCTTCCTG 0.592 NA 49 102 1.38909e-20 2.15526e-20 0.00361 1 0 FOXD2 2306 broad.mit.edu 37 1 47904171 47904171 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:47904171C>T uc001crm.2 + 1 2483 c.364C>T c.(364-366)CGG>TGG p.R122W NM_004474 NP_004465 O60548 FOXD2_HUMAN forkhead box D2 122 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 READ - Rectum adenocarcinoma(2;0.0908) cgcggcgACGCGGAGCCCGCT 0.328 NA 4 19 0 0 0.000602 0 0 C1orf141 400757 broad.mit.edu 37 1 67591503 67591503 + Silent SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:67591503A>T uc001ddl.1 - 3 276 c.165T>A c.(163-165)GCT>GCA p.A55A C1orf141_uc001ddm.1_Silent_p.A55A|C1orf141_uc001ddn.1_RNA NM_001013674 NP_001013696 Q5JVX7 CA141_HUMAN hypothetical protein LOC400757 55 ovary(1) 1 ACGCGGATGTAGCAAGAGCTT 0.363 NA 29 185 0 0 0.002096 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74648512 74648512 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:74648512C>G uc001dfy.3 - 3 475 c.283G>C c.(283-285)GGA>CGA p.G95R LRRIQ3_uc001dfz.3_RNA NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 95 ovary(2) 2 TTCTTCAATCCATTCCAAAAT 0.308 NA 6 28 0 0 0.001168 0 0 C1orf173 127254 broad.mit.edu 37 1 75037858 75037858 + Missense_Mutation SNP C C A rs76571187 TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:75037858C>A uc001dgg.2 - 14 3755 c.3536G>T c.(3535-3537)GGG>GTG p.G1179V NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 1179 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 CAGTCTTTCCCCTCCTCCTTC 0.493 NA 36 241 1.47244e-24 2.36991e-24 0.00623 1 0 C1orf173 127254 broad.mit.edu 37 1 75107077 75107077 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:75107077G>T uc001dgg.2 - 5 601 c.382C>A c.(382-384)CCA>ACA p.P128T NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 128 ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 TTACTCTTTGGGCCAACTGGT 0.443 NA 19 95 4.35082e-09 5.68907e-09 0.010504 1 0 LHX8 431707 broad.mit.edu 37 1 75608902 75608902 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:75608902C>A uc001dgo.2 + 6 1153 c.489C>A c.(487-489)GCC>GCA p.A163A LHX8_uc001dgq.2_Silent_p.A102A NM_001001933 NP_001001933 Q68G74 LHX8_HUMAN LIM homeobox 8 163 LIM zinc-binding 2. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 CATGCTTTGCCTGCTTTTCCT 0.488 NA 21 83 4.26978e-12 6.00556e-12 0.00333 1 0 SLC44A5 204962 broad.mit.edu 37 1 75681537 75681537 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:75681537G>C uc001dgu.2 - 19 1774 c.1630C>G c.(1630-1632)CAG>GAG p.Q544E SLC44A5_uc001dgt.2_Missense_Mutation_p.Q544E|SLC44A5_uc001dgs.2_Missense_Mutation_p.Q502E|SLC44A5_uc001dgr.2_Missense_Mutation_p.Q502E|SLC44A5_uc010oqz.1_Missense_Mutation_p.Q583E|SLC44A5_uc010ora.1_Missense_Mutation_p.Q538E|SLC44A5_uc010orb.1_Missense_Mutation_p.Q414E NM_152697 NP_689910 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 isoform A 544 Cytoplasmic (Potential). integral to membrane|plasma membrane choline transmembrane transporter activity ovary(2)|skin(2) 4 AATGTGTTCTGGGTACCTATG 0.303 NA 8 49 0 0 0.008291 0 0 SLC44A5 204962 broad.mit.edu 37 1 75693506 75693506 + Missense_Mutation SNP T T G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:75693506T>G uc001dgu.2 - 13 1034 c.890A>C c.(889-891)CAG>CCG p.Q297P SLC44A5_uc001dgt.2_Missense_Mutation_p.Q297P|SLC44A5_uc001dgs.2_Missense_Mutation_p.Q255P|SLC44A5_uc001dgr.2_Missense_Mutation_p.Q255P|SLC44A5_uc010oqz.1_Missense_Mutation_p.Q336P|SLC44A5_uc010ora.1_Missense_Mutation_p.Q291P|SLC44A5_uc010orb.1_Missense_Mutation_p.Q167P NM_152697 NP_689910 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 isoform A 297 Extracellular (Potential). integral to membrane|plasma membrane choline transmembrane transporter activity ovary(2)|skin(2) 4 TGGGCGTTCCTGAAGATTGGT 0.348 NA 6 53 0 0 0.001168 0 0 MSH4 4438 broad.mit.edu 37 1 76355032 76355032 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:76355032C>T uc001dhd.1 + 16 2245 c.2204C>T c.(2203-2205)ACA>ATA p.T735I NM_002440 NP_002431 O15457 MSH4_HUMAN mutS homolog 4 735 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding lung(3)|ovary(2) 5 AATTCATCAACATTTATGAAA 0.279 NA MMR 11 59 0 0 0.001368 0 0 ZZZ3 26009 broad.mit.edu 37 1 78098720 78098720 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:78098720C>T uc001dhq.2 - 5 796 c.320G>A c.(319-321)AGG>AAG p.R107K ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.R107K|ZZZ3_uc001dhp.2_Missense_Mutation_p.R107K NM_015534 NP_056349 Q8IYH5 ZZZ3_HUMAN zinc finger, ZZ-type containing 3 107 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|large_intestine(1) 5 TTCTGTTTGCCTTCTCTCACA 0.388 NA 39 266 0 0 0.004289 0 0 ZNF326 284695 broad.mit.edu 37 1 90484244 90484244 + Nonsense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:90484244G>T uc001dnq.2 + 9 1214 c.1075G>T c.(1075-1077)GAG>TAG p.E359* ZNF326_uc009wda.1_Nonsense_Mutation_p.E270*|ZNF326_uc001dnr.2_Nonsense_Mutation_p.E153* NM_182976 NP_892021 Q5BKZ1 ZN326_HUMAN zinc finger protein 326 isoform 1 359 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix DNA binding ovary(1) 1 all_lung(203;0.0116)|Lung NSC(277;0.0417) all cancers(265;0.00728)|Epithelial(280;0.0265) TGTTTTCTAGGAGTGTATGGT 0.303 NA 5 30 0.000602214 0.000665384 0.000602 1 0 HFM1 164045 broad.mit.edu 37 1 91740287 91740287 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:91740287C>G uc001doa.3 - 33 3768 c.3668G>C c.(3667-3669)AGG>ACG p.R1223T HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.R902T|HFM1_uc001dob.3_Missense_Mutation_p.R411T|HFM1_uc010osv.1_Missense_Mutation_p.R907T NM_001017975 NP_001017975 A2PYH4 HFM1_HUMAN HFM1 protein 1223 ATP binding|ATP-dependent helicase activity|nucleic acid binding 0 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) ATATTTGTACCTTGATATACT 0.323 NA 4 22 0 0 0.000602 0 0 HFM1 164045 broad.mit.edu 37 1 91742226 91742226 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:91742226T>A uc001doa.3 - 32 3647 c.3547A>T c.(3547-3549)AGG>TGG p.R1183W HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.R862W|HFM1_uc001dob.3_Missense_Mutation_p.R371W|HFM1_uc010osv.1_Missense_Mutation_p.R867W NM_001017975 NP_001017975 A2PYH4 HFM1_HUMAN HFM1 protein 1183 ATP binding|ATP-dependent helicase activity|nucleic acid binding 0 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) ACAGCATTCCTGTTTCTTAAA 0.294 NA 5 24 0 0 0.001984 0 0 BRDT 676 broad.mit.edu 37 1 92441976 92441976 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:92441976G>T uc001dok.3 + 5 948 c.599G>T c.(598-600)AGT>ATT p.S200I BRDT_uc001dol.3_Missense_Mutation_p.S200I|BRDT_uc010osz.1_Missense_Mutation_p.S204I|BRDT_uc009wdf.2_Missense_Mutation_p.S127I|BRDT_uc010ota.1_Missense_Mutation_p.S154I|BRDT_uc010otb.1_Missense_Mutation_p.S154I|BRDT_uc001dom.3_Missense_Mutation_p.S200I NM_207189 NP_997072 Q58F21 BRDT_HUMAN testis-specific bromodomain protein 200 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity stomach(2)|ovary(1)|lung(1) 4 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) GTCAACTCCAGTTCACAAACT 0.358 NA 14 64 2.31682e-05 2.68831e-05 0.003163 1 0 AMY1A 276 broad.mit.edu 37 1 104297220 104297220 + Silent SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:104297220T>C uc001duy.2 + 7 1192 c.978T>C c.(976-978)TCT>TCC p.S326S AMY1A_uc001duz.2_Silent_p.S326S NM_001008221 NP_001008222 P04745 AMY1_HUMAN salivary amylase alpha 1A precursor 326 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding|protein binding 0 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111) GAGGAGCCTCTATACTTACCT 0.413 Pancreas(131;743 2392 43382 44986) NA 19 429 0 0 0.00623 0 0 VAV3 10451 broad.mit.edu 37 1 108303496 108303496 + Nonsense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:108303496A>T uc001dvk.1 - 10 981 c.927T>A c.(925-927)TGT>TGA p.C309* VAV3_uc010ouw.1_Nonsense_Mutation_p.C309*|VAV3_uc001dvl.1_Nonsense_Mutation_p.C133*|VAV3_uc010oux.1_Nonsense_Mutation_p.C309* NM_006113 NP_006104 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor isoform 309 DH. angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(5)|lung(2)|breast(2) 9 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) CTCTTTTGGAACATTCCTAAT 0.353 NA 3 22 0 0 0.004672 0 0 KIAA1324 57535 broad.mit.edu 37 1 109735309 109735309 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:109735309A>G uc001dwq.2 + 15 1896 c.1760A>G c.(1759-1761)TAC>TGC p.Y587C KIAA1324_uc009wex.1_Missense_Mutation_p.Y537C|KIAA1324_uc009wey.2_Missense_Mutation_p.Y500C|KIAA1324_uc010ovg.1_Missense_Mutation_p.Y485C|KIAA1324_uc001dwr.2_Missense_Mutation_p.Y237C NM_020775 NP_065826 Q6UXG2 K1324_HUMAN hypothetical protein LOC57535 precursor 587 Extracellular (Potential). macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane ovary(2)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1) 5 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) GTGGCCTCCTACTGCCGTCCC 0.522 NA 51 318 0 0 0.00361 0 0 KIAA1324 57535 broad.mit.edu 37 1 109740147 109740147 + Nonsense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:109740147G>T uc001dwq.2 + 17 2309 c.2173G>T c.(2173-2175)GAG>TAG p.E725* KIAA1324_uc009wex.1_Nonsense_Mutation_p.E675*|KIAA1324_uc009wey.2_Nonsense_Mutation_p.E638*|KIAA1324_uc010ovg.1_Nonsense_Mutation_p.E623*|KIAA1324_uc001dwr.2_Nonsense_Mutation_p.E375*|KIAA1324_uc001dws.1_RNA|KIAA1324_uc009wez.1_RNA NM_020775 NP_065826 Q6UXG2 K1324_HUMAN hypothetical protein LOC57535 precursor 725 Extracellular (Potential). macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane ovary(2)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1) 5 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) CCGGATTCCTGAGGGTGAGTC 0.552 NA 12 107 6.42651e-13 9.20292e-13 0.000978 1 0 SYPL2 284612 broad.mit.edu 37 1 110018245 110018245 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:110018245G>T uc001dxp.2 + 3 538 c.172G>T c.(172-174)GGG>TGG p.G58W SYPL2_uc001dxo.2_Missense_Mutation_p.G58W|SYPL2_uc010ovk.1_Missense_Mutation_p.G58W|SYPL2_uc001dxq.2_5'Flank NM_001040709 NP_001035799 Q5VXT5 SYPL2_HUMAN mitsugumin 29 58 Vesicular (Potential).|MARVEL. integral to membrane|synaptic vesicle transporter activity ovary(1) 1 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231) CTCCTACAGCGGGGAGACAGG 0.527 NA 5 34 0.00116845 0.00127467 0.001168 1 0 GPR61 83873 broad.mit.edu 37 1 110085968 110085968 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:110085968C>A uc001dxy.2 + 2 1007 c.324C>A c.(322-324)GCC>GCA p.A108A NM_031936 NP_114142 Q9BZJ8 GPR61_HUMAN G protein-coupled receptor 61 108 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(2) 2 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228) TTGACCACGCCCTCTTTGGGG 0.597 NA 14 80 7.93312e-07 9.62945e-07 0.00245 1 0 RBM15 64783 broad.mit.edu 37 1 110883749 110883749 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:110883749A>T uc001dzl.1 + 1 1805 c.1722A>T c.(1720-1722)AGA>AGT p.R574S RBM15_uc001dzm.1_Missense_Mutation_p.R574S|uc001dzj.2_5'Flank NM_022768 NP_073605 Q96T37 RBM15_HUMAN RNA binding motif protein 15 574 interspecies interaction between organisms nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) TACTATACAGAGATCGTGATA 0.552 NA T MKL1 acute megakaryocytic leukemia 13 49 0 0 0.003163 0 0 MOV10 4343 broad.mit.edu 37 1 113232654 113232654 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:113232654A>T uc001eck.2 + 5 1040 c.770A>T c.(769-771)AAG>ATG p.K257M MOV10_uc001ecl.2_Missense_Mutation_p.K257M|MOV10_uc001ecn.2_Missense_Mutation_p.K257M|MOV10_uc001ecm.2_Missense_Mutation_p.K197M|MOV10_uc009wgj.1_Missense_Mutation_p.K197M NM_001130079 NP_001123551 Q9HCE1 MOV10_HUMAN Mov10, Moloney leukemia virus 10, homolog 257 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|helicase activity|protein binding|RNA binding ovary(4)|skin(1) 5 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) ACTCCCTTCAAGCGGACCCGG 0.617 NA 44 85 0 0 0.00361 0 0 MOV10 4343 broad.mit.edu 37 1 113242307 113242307 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:113242307G>C uc001eck.2 + 18 2854 c.2584G>C c.(2584-2586)GTG>CTG p.V862L MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.2_Missense_Mutation_p.V862L|MOV10_uc001ecm.2_Missense_Mutation_p.V802L NM_001130079 NP_001123551 Q9HCE1 MOV10_HUMAN Mov10, Moloney leukemia virus 10, homolog 862 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|helicase activity|protein binding|RNA binding ovary(4)|skin(1) 5 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) TCCCCACTAGGTGGGTTCAGT 0.423 NA 38 112 0 0 0.00623 0 0 MAGI3 260425 broad.mit.edu 37 1 114189213 114189213 + Missense_Mutation SNP T T G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:114189213T>G uc001edk.2 + 12 2285 c.2104T>G c.(2104-2106)TTG>GTG p.L702V MAGI3_uc001edh.3_Missense_Mutation_p.L727V|MAGI3_uc001edi.3_Missense_Mutation_p.L702V|MAGI3_uc010owm.1_Missense_Mutation_p.L727V|MAGI3_uc001edj.2_Missense_Mutation_p.L423V NM_001142782 NP_001136254 Q5TCQ9 MAGI3_HUMAN membrane-associated guanylate kinase-related 3 727 apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding lung(3)|ovary(2)|central_nervous_system(1) 6 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-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) ATCCCCAAAATTGGATCCTTC 0.383 NA 13 76 0 0 0.00245 0 0 SV2A 9900 broad.mit.edu 37 1 149881030 149881030 + Silent SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:149881030A>G uc001etg.2 - 7 1764 c.1273T>C c.(1273-1275)TTG>CTG p.L425L SV2A_uc009wlk.2_5'Flank|SV2A_uc001eth.2_Silent_p.L425L NM_014849 NP_055664 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2 425 Cytoplasmic (Potential). neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity ovary(6)|pancreas(1) 7 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) CCTAGGCTCAAGGCCCGGACC 0.562 NA 81 61 0 0 0.00361 0 0 SLC27A3 11000 broad.mit.edu 37 1 153749049 153749049 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:153749049C>G uc001fcz.2 + 2 929 c.864C>G c.(862-864)CAC>CAG p.H288Q SLC27A3_uc009won.2_RNA NM_024330 NP_077306 Q5K4L6 S27A3_HUMAN solute carrier family 27 member 3 288 fatty acid metabolic process integral to membrane|mitochondrial membrane ligase activity|nucleotide binding ovary(1) 1 all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) TGGGGCTCCACCTGTGGGCTG 0.622 NA 9 233 0 0 0.004482 0 0 ATP8B2 57198 broad.mit.edu 37 1 154317940 154317940 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:154317940T>A uc001fex.2 + 23 2712 c.2712T>A c.(2710-2712)TTT>TTA p.F904L NM_020452 NP_065185 P98198 AT8B2_HUMAN ATPase, class I, type 8B, member 2 isoform a 890 Helical; (Potential). ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(1)|skin(1) 2 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TGTGCAAGTTTCTTTGCTATT 0.502 NA OREG0013835 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 840 0 0 0.002836 0 0 FAM189B 10712 broad.mit.edu 37 1 155223710 155223710 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:155223710C>T uc001fjm.2 - 4 1059 c.453G>A c.(451-453)TCG>TCA p.S151S RAG1AP1_uc010pey.1_Intron|FAM189B_uc009wql.2_5'Flank|FAM189B_uc001fjn.2_Intron|FAM189B_uc001fjo.2_Silent_p.S132S|FAM189B_uc001fjp.2_Intron|FAM189B_uc001fjq.1_Silent_p.S151S NM_006589 NP_006580 P81408 F189B_HUMAN hypothetical protein LOC10712 isoform a 151 integral to membrane WW domain binding ovary(1)|breast(1) 2 GTTCCTGCCCCGACTCTGGAC 0.602 NA 48 52 0 0 0.00361 0 0 RUSC1 23623 broad.mit.edu 37 1 155298032 155298032 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:155298032G>C uc001fkj.2 + 9 2735 c.2506G>C c.(2506-2508)GAG>CAG p.E836Q RAG1AP1_uc010pey.1_Intron|RUSC1_uc001fkk.2_Missense_Mutation_p.E730Q|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_Missense_Mutation_p.E367Q|RUSC1_uc001fkl.2_Missense_Mutation_p.E426Q|RUSC1_uc001fkp.2_Missense_Mutation_p.E367Q|RUSC1_uc001fkq.2_Missense_Mutation_p.E261Q|RUSC1_uc010pgb.1_Missense_Mutation_p.E334Q|RUSC1_uc009wqp.1_Missense_Mutation_p.E361Q|RUSC1_uc001fkn.2_Missense_Mutation_p.E145Q|RUSC1_uc001fko.2_RNA|RUSC1_uc001fkr.2_Missense_Mutation_p.E367Q|RUSC1_uc001fks.2_Intron NM_001105203 NP_001098673 Q9BVN2 RUSC1_HUMAN RUN and SH3 domain containing 1 isoform a 836 cytoplasm|nucleolus SH3/SH2 adaptor activity ovary(2) 2 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) TCAGGAGCTTGAGGCCTCAGC 0.547 NA 14 234 0 0 0.007413 0 0 DAP3 7818 broad.mit.edu 37 1 155701746 155701746 + Silent SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:155701746C>G uc001flq.2 + 11 1084 c.915C>G c.(913-915)GCC>GCG p.A305A DAP3_uc001flr.2_Silent_p.A305A|DAP3_uc001fls.2_Silent_p.A305A|DAP3_uc010pgl.1_Silent_p.A264A|DAP3_uc001flt.2_Silent_p.A271A|DAP3_uc001flu.2_Silent_p.A278A|DAP3_uc010pgm.1_Silent_p.A271A NM_033657 NP_387506 P51398 RT29_HUMAN death-associated protein 3 305 induction of apoptosis by extracellular signals mitochondrial ribosome|nucleolus|small ribosomal subunit protein binding ovary(1) 1 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) ATGGAGGCGCCATTGTGTCGG 0.423 NA 6 25 0 0 0.001168 0 0 IQGAP3 128239 broad.mit.edu 37 1 156501027 156501027 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:156501027C>A uc001fpf.2 - 33 4191 c.4116G>T c.(4114-4116)CTG>CTT p.L1372L NM_178229 NP_839943 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 1372 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity ovary(5)|skin(1) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TATCGGCCAACAGCTGCTTGG 0.597 NA 23 121 9.57634e-11 1.31762e-10 0.00333 1 0 FCRL5 83416 broad.mit.edu 37 1 157485511 157485512 + Missense_Mutation DNP GG GG TT rs140845798 byFrequency TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:157485511_157485512GG>TT uc001fqu.2 - 17 3045_3046 c.2887_2888CC>AA c.(2887-2889)CCG>AAG p.P963K FCRL5_uc009wsm.2_Silent_p.959_960PR>PR NM_031281 NP_112571 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 963 Cytoplasmic (Potential). integral to membrane|plasma membrane receptor activity ovary(3)|breast(2)|central_nervous_system(1) 6 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) TCCGGAAACCGGGGTTGACGCC 0.584 NA 41 509 0 0 0.004672 0 0 OR10T2 128360 broad.mit.edu 37 1 158368475 158368475 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:158368475C>A uc010pih.1 - 1 782 c.782G>T c.(781-783)CGG>CTG p.R261L NM_001004475 NP_001004475 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, 261 Extracellular (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) GGACTTGGGCCGCAGATAGAT 0.512 NA 9 67 3.86212e-05 4.43255e-05 0.008291 1 0 OR6K3 391114 broad.mit.edu 37 1 158687103 158687103 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:158687103A>G uc010pip.1 - 1 851 c.851T>C c.(850-852)GTT>GCT p.V284A NM_001005327 NP_001005327 Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, 284 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|kidney(1)|central_nervous_system(1) 3 all_hematologic(112;0.0378) TGTGTCCAAAACTGGTGGATA 0.433 NA 4 223 0 0 0.009096 0 0 CADM3 57863 broad.mit.edu 37 1 159166690 159166690 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:159166690G>T uc001ftl.2 + 7 934 c.792G>T c.(790-792)CAG>CAT p.Q264H CADM3_uc009wsy.1_Missense_Mutation_p.Q218H|CADM3_uc001ftk.2_Missense_Mutation_p.Q298H|uc001ftm.1_RNA NM_001127173 NP_001120645 Q8N126 CADM3_HUMAN cell adhesion molecule 3 isoform 2 264 Ig-like C2-type 2.|Extracellular (Potential). adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity ovary(2) 2 all_hematologic(112;0.0429) GCCCCCAGCAGTACCTATGGG 0.527 NA 15 203 2.23348e-06 2.66668e-06 0.004007 1 0 DARC 2532 broad.mit.edu 37 1 159175860 159175860 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:159175860A>T uc001fto.2 + 2 871 c.631A>T c.(631-633)ACT>TCT p.T211S DARC_uc001ftp.3_Missense_Mutation_p.T213S NM_002036 NP_002027 Q16570 DUFFY_HUMAN Duffy blood group antigen isoform b 211 Helical; Name=5; (Potential). defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity ovary(1)|lung(1) 2 all_hematologic(112;0.0429) GGCCACACACACTGTAGCCTG 0.562 NA 9 146 0 0 0.008291 0 0 NHLH1 4807 broad.mit.edu 37 1 160340530 160340530 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:160340530C>T uc001fwa.2 + 2 451 c.9C>T c.(7-9)CTC>CTT p.L3L NM_005598 NP_005589 Q02575 HEN1_HUMAN nescient helix loop helix 1 3 cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 all_cancers(52;7.11e-19)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TCATGATGCTCAACTCAGACA 0.662 NA 27 25 0 0 0.003271 0 0 CD84 8832 broad.mit.edu 37 1 160523869 160523869 + Silent SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:160523869T>A uc001fwh.3 - 3 480 c.456A>T c.(454-456)ACA>ACT p.T152T CD84_uc001fwf.3_Silent_p.T152T|CD84_uc001fwg.3_Silent_p.T152T|CD84_uc009wtn.2_Silent_p.T152T|CD84_uc001fwi.3_Silent_p.T38T|CD84_uc001fwj.2_Silent_p.T152T|CD84_uc001fwk.2_Silent_p.T152T NM_003874 NP_003865 Q9UIB8 SLAF5_HUMAN CD84 molecule 152 Extracellular (Potential).|Ig-like C2-type. blood coagulation|defense response|homophilic cell adhesion|leukocyte migration integral to plasma membrane receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(52;3.62e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) AGCATGTCAGTGTGACATTAC 0.433 NA 11 286 0 0 0.001368 0 0 OLFML2B 25903 broad.mit.edu 37 1 161967727 161967727 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:161967727G>A uc001gbu.2 - 6 1786 c.1362C>T c.(1360-1362)CCC>CCT p.P454P OLFML2B_uc010pkq.1_Silent_p.P455P NM_015441 NP_056256 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B precursor 454 skin(1) 1 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) TGACTGTGGTGGGAGGCACTG 0.622 NA 24 322 0 0 0.009535 0 0 DUSP27 92235 broad.mit.edu 37 1 167095983 167095983 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:167095983G>T uc001geb.1 + 5 1615 c.1615G>T c.(1615-1617)GAC>TAC p.D539Y NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 539 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 CAGGAACAAGGACAAGCTCAC 0.552 NA 26 218 1.5548e-18 2.35832e-18 0.005443 1 0 F5 2153 broad.mit.edu 37 1 169484771 169484771 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:169484771C>G uc001ggg.1 - 24 6584 c.6439G>C c.(6439-6441)GAA>CAA p.E2147Q NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 2147 F5/8 type C 2. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) ACATACATTTCAGAGGACAGA 0.433 NA 28 297 0 0 0.004656 0 0 F5 2153 broad.mit.edu 37 1 169515796 169515796 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:169515796G>A uc001ggg.1 - 11 1791 c.1646C>T c.(1645-1647)GCT>GTT p.A549V F5_uc010plr.1_RNA NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 549 Plastocyanin-like 4.|F5/8 type A 2. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) ATCAAACACAGCAAACACAGC 0.318 NA 14 176 0 0 0.003163 0 0 PAPPA2 60676 broad.mit.edu 37 1 176661380 176661380 + Silent SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:176661380T>C uc001gkz.2 + 6 3714 c.2550T>C c.(2548-2550)CCT>CCC p.P850P PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 850 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 CCATTCCACCTATGGTCATCG 0.517 NA 46 253 0 0 0.00361 0 0 RASAL2 9462 broad.mit.edu 37 1 178426890 178426890 + Silent SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:178426890G>T uc001glr.2 + 12 2165 c.2040G>T c.(2038-2040)CTG>CTT p.L680L RASAL2_uc001glq.2_Silent_p.L821L|RASAL2_uc009wxc.2_Silent_p.L194L NM_004841 NP_004832 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 isoform 1 680 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity ovary(2)|breast(2)|large_intestine(1) 5 CATTATTGCTGGTTCAGCAAG 0.448 NA 17 160 3.41278e-10 4.64178e-10 0.00499 1 0 TOR1AIP1 26092 broad.mit.edu 37 1 179887338 179887338 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:179887338A>T uc001gnq.2 + 10 1934 c.1716A>T c.(1714-1716)CAA>CAT p.Q572H NM_015602 NP_056417 Q5JTV8 TOIP1_HUMAN lamina-associated polypeptide 1B 572 Lumenal (Potential). integral to membrane|nuclear inner membrane breast(1)|central_nervous_system(1) 2 TGCCTGTGCAACCTGAAAATG 0.433 NA 14 126 0 0 0.007413 0 0 LHX4 89884 broad.mit.edu 37 1 180243566 180243566 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:180243566C>G uc001goe.1 + 6 1248 c.1025C>G c.(1024-1026)GCG>GGG p.A342G uc001gof.1_Intron NM_033343 NP_203129 Q969G2 LHX4_HUMAN LIM homeobox protein 4 342 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 GGCATCATTGCGCATGCAGGG 0.572 NA 87 447 0 0 0.00361 0 0 CACNA1E 777 broad.mit.edu 37 1 181741231 181741231 + Missense_Mutation SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:181741231T>C uc001gow.2 + 37 5168 c.5003T>C c.(5002-5004)ATT>ACT p.I1668T CACNA1E_uc009wxs.2_Missense_Mutation_p.I1556T|CACNA1E_uc001gox.1_Missense_Mutation_p.I894T|CACNA1E_uc009wxt.2_Missense_Mutation_p.I894T NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 1668 Extracellular (Potential).|IV. energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 TGGCAGGAGATTATGCTGTCA 0.567 NA 48 63 0 0 0.00361 0 0 ZNF648 127665 broad.mit.edu 37 1 182025857 182025857 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:182025857G>A uc001goz.2 - 2 1497 c.1289C>T c.(1288-1290)ACC>ATC p.T430I NM_001009992 NP_001009992 Q5T619 ZN648_HUMAN zinc finger protein 648 430 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GGAGGACTTGGTGAAGCACTT 0.692 NSCLC(71;908 1374 5429 20458 35642) NA 3 8 0 0 0.004672 0 0 PRG4 10216 broad.mit.edu 37 1 186270816 186270816 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:186270816C>G uc001gru.3 + 4 343 c.292C>G c.(292-294)CCC>GCC p.P98A PRG4_uc001grt.3_Missense_Mutation_p.P57A|PRG4_uc009wyl.2_Missense_Mutation_p.P98A|PRG4_uc009wym.2_Missense_Mutation_p.P57A|PRG4_uc010poo.1_RNA NM_005807 NP_005798 Q92954 PRG4_HUMAN proteoglycan 4 isoform A 98 SMB 2. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 CAAGTGCTGTCCCGATTATGA 0.493 NA 19 96 0 0 0.007413 0 0 PLA2G4A 5321 broad.mit.edu 37 1 186909161 186909161 + Missense_Mutation SNP A A C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:186909161A>C uc001gsc.2 + 10 1173 c.968A>C c.(967-969)CAA>CCA p.Q323P PLA2G4A_uc010pos.1_Missense_Mutation_p.Q263P NM_024420 NP_077734 P47712 PA24A_HUMAN cytosolic phospholipase A2, group IVA 323 PLA2c. phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation cytosol|endoplasmic reticulum membrane calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity lung(2)|breast(1) 3 Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103) AATACTGCACAATGCCCTTTA 0.383 NA 17 138 0 0 0.007413 0 0 FAM5C 339479 broad.mit.edu 37 1 190233997 190233997 + Missense_Mutation SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:190233997T>C uc001gse.1 - 4 848 c.616A>G c.(616-618)AAG>GAG p.K206E FAM5C_uc010pot.1_Missense_Mutation_p.K104E NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 206 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) ATTCTTACCTTTATGGCAGTG 0.388 NA 40 82 0 0 0.00361 0 0 KCNT2 343450 broad.mit.edu 37 1 196309513 196309513 + Nonsense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:196309513C>A uc001gtd.1 - 16 1801 c.1741G>T c.(1741-1743)GGA>TGA p.G581* KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Nonsense_Mutation_p.G531*|KCNT2_uc001gtf.1_Nonsense_Mutation_p.G581*|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Nonsense_Mutation_p.G581*|KCNT2_uc001gth.1_Nonsense_Mutation_p.G102* NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 581 Cytoplasmic (Potential). voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 CTGGAAGGTCCATGATAAAAC 0.284 NA 4 151 0.000602214 0.000665384 0.000602 1 0 ASPM 259266 broad.mit.edu 37 1 197072642 197072642 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:197072642G>A uc001gtu.2 - 18 5996 c.5739C>T c.(5737-5739)GCC>GCT p.A1913A ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 1913 IQ 11. mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 ACTGTTTCTGGGCCTTGGCCA 0.438 NA 33 170 0 0 0.002096 0 0 CAMSAP1L1 23271 broad.mit.edu 37 1 200817337 200817337 + Silent SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:200817337A>G uc001gvl.2 + 12 1743 c.1473A>G c.(1471-1473)GAA>GAG p.E491E CAMSAP1L1_uc001gvk.2_Silent_p.E480E|CAMSAP1L1_uc001gvm.2_Silent_p.E464E NM_203459 NP_982284 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein 491 cytoplasm|microtubule protein binding ovary(2)|large_intestine(1)|pancreas(1) 4 TAAATGGAGAAGAGGAAGCAG 0.353 NA 12 72 0 0 0.001855 0 0 ELK4 2005 broad.mit.edu 37 1 205589269 205589269 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:205589269T>A uc001hcy.1 - 3 2155 c.905A>T c.(904-906)GAC>GTC p.D302V ELK4_uc001hcz.2_Missense_Mutation_p.D302V NM_001973 NP_001964 P28324 ELK4_HUMAN ELK4 protein isoform a 302 cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity 0 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) TGAATCCTGGTCTTTAGGCTC 0.458 NA T SLC45A3 prostate 12 224 0 0 0.000978 0 0 SRGAP2 23380 broad.mit.edu 37 1 206566979 206566979 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:206566979C>T uc001hdy.2 + 4 852 c.519C>T c.(517-519)ACC>ACT p.T173T SRGAP2_uc009xbt.2_Silent_p.T97T|SRGAP2_uc010prt.1_Silent_p.T97T|SRGAP2_uc001hdx.2_Silent_p.T173T|SRGAP2_uc010pru.1_Silent_p.T97T|SRGAP2_uc010prv.1_Silent_p.T97T NM_015326 NP_056141 O75044 FNBP2_HUMAN SLIT-ROBO Rho GTPase activating protein 2 260 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding 0 Breast(84;0.137) TGGAGGCAACCAATGCATCTG 0.468 NA 14 126 0 0 0.001855 0 0 CR1L 1379 broad.mit.edu 37 1 207890857 207890857 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:207890857G>C uc001hga.3 + 11 1584 c.1463G>C c.(1462-1464)GGA>GCA p.G488A CR1L_uc001hfz.2_RNA|CR1L_uc001hgb.1_RNA NM_175710 NP_783641 Q2VPA4 CR1L_HUMAN complement component (3b/4b) receptor 1-like 488 Sushi 8. cytoplasm|extracellular region|membrane 0 AGACACACAGGAACTCCCCTT 0.428 NA 5 179 0 0 0.000602 0 0 HSD11B1 3290 broad.mit.edu 37 1 209878314 209878314 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:209878314C>A uc001hhj.2 + 2 134 c.27C>A c.(25-27)CTC>CTA p.L9L HSD11B1_uc001hhk.2_Silent_p.L9L NM_181755 NP_861420 P28845 DHI1_HUMAN 11-beta-hydroxysteroid dehydrogenase 1 9 Helical; Signal-anchor for type II membrane protein; (Potential). glucocorticoid biosynthetic process endoplasmic reticulum membrane|integral to membrane 11-beta-hydroxysteroid dehydrogenase (NADP+) activity|11-beta-hydroxysteroid dehydrogenase|binding breast(1) 1 OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115) NADH(DB00157) AATATCTCCTCCCCATTCTGG 0.463 NA 16 124 1.3612e-06 1.64594e-06 0.003163 1 0 IRF6 3664 broad.mit.edu 37 1 209974608 209974608 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:209974608C>T uc001hhq.1 - 3 414 c.151G>A c.(151-153)GAA>AAA p.E51K IRF6_uc010psm.1_Intron|IRF6_uc009xct.1_Missense_Mutation_p.E51K NM_006147 NP_006138 O14896 IRF6_HUMAN interferon regulatory factor 6 51 IRF tryptophan pentad repeat. cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0351) TTTTCCTCTTCTTGTTGAGGG 0.438 NA HNSCC(57;0.16) 9 204 0 0 0.000978 0 0 CENPF 1063 broad.mit.edu 37 1 214819878 214819878 + Missense_Mutation SNP A A C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:214819878A>C uc001hkm.2 + 13 7139 c.6965A>C c.(6964-6966)CAA>CCA p.Q2322P NM_016343 NP_057427 P49454 CENPF_HUMAN centromere protein F 2418 2-2.|Interaction with NDE1 and NDEL1.|Potential.|2 X 177 AA tandem repeats. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1) 13 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) TGTGTCTTACAACAACTGAAG 0.453 Colon(80;575 1284 11000 14801 43496) NA 9 160 0 0 0.000978 0 0 USH2A 7399 broad.mit.edu 37 1 216166438 216166438 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:216166438G>A uc001hku.1 - 35 7116 c.6729C>T c.(6727-6729)GGC>GGT p.G2243G NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2243 Fibronectin type-III 9.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GGGCTGGCACGCCTTCGGGTA 0.507 NA HNSCC(13;0.011) OREG0014251 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 33 298 0 0 0.003755 0 0 RAB3GAP2 25782 broad.mit.edu 37 1 220345290 220345290 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:220345290A>T uc010puk.1 - 23 2682 c.2518T>A c.(2518-2520)TCT>ACT p.S840T RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.S420T NM_012414 NP_036546 Q9H2M9 RBGPR_HUMAN rab3 GTPase-activating protein, non-catalytic 840 intracellular protein transport cytoplasm|soluble fraction GTPase activator activity|protein heterodimerization activity central_nervous_system(1) 1 GBM - Glioblastoma multiforme(131;0.0443) ACATGCGCAGACAACAGAGCG 0.493 NA 50 59 0 0 0.00361 0 0 DEGS1 8560 broad.mit.edu 37 1 224378005 224378005 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:224378005G>C uc001hoj.2 + 2 920 c.809G>C c.(808-810)GGA>GCA p.G270A DEGS1_uc001hoi.2_Missense_Mutation_p.G249A NM_144780 NP_659004 O15121 DEGS1_HUMAN degenerative spermatocyte homolog 1, lipid 270 sphingolipid metabolic process|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity 0 Breast(184;0.193) GBM - Glioblastoma multiforme(131;0.00643) AACATTCCTGGAAAAAGTCTT 0.249 NA 4 129 0 0 0.009096 0 0 PSEN2 5664 broad.mit.edu 37 1 227073239 227073239 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:227073239C>T uc009xeo.1 + 6 784 c.357C>T c.(355-357)CTC>CTT p.L119L PSEN2_uc009xep.1_Silent_p.L119L|PSEN2_uc001hqk.2_RNA NM_000447 NP_000438 P49810 PSN2_HUMAN presenilin 2 isoform 1 119 Lumenal (Potential). amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc aspartic-type endopeptidase activity|protein binding lung(2) 2 Prostate(94;0.0771) TCTCCCTCAGCATCTACACGC 0.597 NA 17 19 0 0 0.00499 0 0 JMJD4 65094 broad.mit.edu 37 1 227922419 227922419 + Nonsense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:227922419C>A uc001hrb.2 - 2 499 c.499G>T c.(499-501)GAG>TAG p.E167* SNAP47_uc001hqz.2_Intron|SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.2_5'Flank|SNAP47_uc001hre.2_5'Flank|SNAP47_uc001hrf.2_5'Flank|JMJD4_uc001hrc.2_Nonsense_Mutation_p.E167* NM_023007 NP_075383 Q9H9V9 JMJD4_HUMAN jumonji domain containing 4 isoform 1 167 0 Prostate(94;0.0885) TGTATGTACTCTTTCCAGTAG 0.552 NA 11 113 2.31682e-05 2.68831e-05 0.003163 1 0 SIPA1L2 57568 broad.mit.edu 37 1 232607141 232607141 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:232607141G>T uc001hvg.2 - 6 2377 c.2219C>A c.(2218-2220)CCA>CAA p.P740Q NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 740 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) TTCGGTACATGGATTATGCAC 0.433 NA 46 283 9.22156e-22 1.45217e-21 0.00361 1 0 SIPA1L2 57568 broad.mit.edu 37 1 232626781 232626781 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:232626781C>G uc001hvg.2 - 3 1803 c.1645G>C c.(1645-1647)GAA>CAA p.E549Q NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 549 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) ATAGCATCTTCTAAAATTGCT 0.423 NA 14 43 0 0 0.00499 0 0 EDARADD 128178 broad.mit.edu 37 1 236631557 236631557 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:236631557C>T uc001hxu.1 + 5 311 c.246C>T c.(244-246)AGC>AGT p.S82S EDARADD_uc001hxv.1_Silent_p.S72S NM_145861 NP_665860 Q8WWZ3 EDAD_HUMAN EDAR-associated death domain isoform A 82 cell differentiation|signal transduction cytoplasm 0 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.0232)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00117) TTCCAGATAGCACTGGAGATC 0.318 NA 29 114 0 0 0.002096 0 0 ACTN2 88 broad.mit.edu 37 1 236912564 236912564 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:236912564G>A uc001hyf.2 + 14 1860 c.1656G>A c.(1654-1656)CAG>CAA p.Q552Q ACTN2_uc001hyg.2_Silent_p.Q344Q|ACTN2_uc009xgi.1_Silent_p.Q552Q|ACTN2_uc010pxu.1_Silent_p.Q241Q|ACTN2_uc001hyh.2_Silent_p.Q240Q NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 552 Spectrin 3. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding ovary(4)|skin(1) 5 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) AGGAGATCCAGGTAATGGAAC 0.423 NA 4 82 0 0 0.009096 0 0 RYR2 6262 broad.mit.edu 37 1 237942011 237942011 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:237942011T>A uc001hyl.1 + 88 11941 c.11821T>A c.(11821-11823)TGG>AGG p.W3941R RYR2_uc010pya.1_Missense_Mutation_p.W356R NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3941 Helical; Name=M1; (Potential). cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CAGCAGGCTGTGGGATGCTGT 0.448 NA 10 95 0 0 0.000978 0 0 RYR2 6262 broad.mit.edu 37 1 237965182 237965182 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:237965182A>T uc001hyl.1 + 98 14237 c.14117A>T c.(14116-14118)CAG>CTG p.Q4706L RYR2_uc010pyb.1_Missense_Mutation_p.Q139L NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4706 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GTGAAGTATCAGATGTGGAAA 0.398 NA 3 40 0 0 0.004672 0 0 RYR2 6262 broad.mit.edu 37 1 237982399 237982399 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:237982399G>C uc001hyl.1 + 101 14617 c.14497G>C c.(14497-14499)GAC>CAC p.D4833H RYR2_uc010pyb.1_Missense_Mutation_p.D266H NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4833 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TGAAATCGAAGACCCAGCAGG 0.413 NA 24 92 0 0 0.00278 0 0 ZP4 57829 broad.mit.edu 37 1 238053192 238053192 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:238053192C>A uc001hym.2 - 3 375 c.375G>T c.(373-375)CTG>CTT p.L125L LOC100130331_uc010pyc.1_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 preproprotein 125 Extracellular (Potential). acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity ovary(2)|skin(1) 3 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) GACACTTGAGCAGCTTCCTCT 0.562 NSCLC(166;160 2029 11600 18754 19936) NA 14 511 1.5739e-10 2.1624e-10 0.004007 1 0 FMN2 56776 broad.mit.edu 37 1 240370957 240370957 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:240370957C>T uc010pyd.1 + 5 3070 c.2845C>T c.(2845-2847)CCC>TCC p.P949S FMN2_uc010pye.1_Missense_Mutation_p.P953S NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 949 Pro-rich.|FH1. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GCCCCCTCTACCCGGAGCGGC 0.692 NA 12 61 0 0 0.004007 0 0 SMYD3 64754 broad.mit.edu 37 1 245912930 245912930 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:245912930G>T uc001ibl.2 - 12 1317 c.1222C>A c.(1222-1224)CAC>AAC p.H408N SMYD3_uc001ibk.2_Missense_Mutation_p.H349N|SMYD3_uc001ibi.2_3'UTR|SMYD3_uc001ibj.2_Missense_Mutation_p.H219N NM_022743 NP_073580 Q9H7B4 SMYD3_HUMAN SET and MYND domain containing 3 408 cytoplasm|nucleus histone-lysine N-methyltransferase activity|protein binding|zinc ion binding 0 all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242) all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164) OV - Ovarian serous cystadenocarcinoma(106;0.0129) all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537) ATCAGGCTGTGTTCTCTGCCA 0.463 NA 11 71 6.42651e-13 9.20292e-13 0.000978 1 0 OR2W5 441932 broad.mit.edu 37 1 247654812 247654812 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:247654812G>T uc001icz.1 + 1 383 c.383G>T c.(382-384)CGG>CTG p.R128L NM_001004698 NP_001004698 A6NFC9 OR2W5_HUMAN olfactory receptor, family 2, subfamily W, 128 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|skin(1) 3 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) GCCGTCTGCCGGTCCCTGCAC 0.587 NA 63 58 1.1397e-45 1.89884e-45 0.00361 1 0 OR2G2 81470 broad.mit.edu 37 1 247752015 247752015 + Silent SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:247752015G>T uc010pyy.1 + 1 354 c.354G>T c.(352-354)CCG>CCT p.P118P NM_001001915 NP_001001915 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, 118 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) GCGTCCTCCCGGCTGTGATGT 0.522 NA 36 274 2.75727e-19 4.22277e-19 0.004878 1 0 OR2G2 81470 broad.mit.edu 37 1 247752598 247752598 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:247752598G>C uc010pyy.1 + 1 937 c.937G>C c.(937-939)GGA>CGA p.G313R NM_001001915 NP_001001915 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, 313 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) AAAGGCTCTGGGAGtaaatat 0.313 NA 33 118 0 0 0.00874 0 0 OR1C1 26188 broad.mit.edu 37 1 247921241 247921241 + Silent SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:247921241G>T uc010pza.1 - 1 468 c.468C>A c.(466-468)GCC>GCA p.A156A NM_012353 NP_036485 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, 156 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) TATGCAGGAGGGCGTGGAGGT 0.502 NA 7 50 2.7689e-08 3.53762e-08 0.001984 1 0 OR11L1 391189 broad.mit.edu 37 1 248004340 248004340 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:248004340G>T uc001idn.1 - 1 859 c.859C>A c.(859-861)CCA>ACA p.P287T NM_001001959 NP_001001959 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, 287 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TAGATAACTGGGTTCAGCAGT 0.428 NA 7 121 3.09899e-07 3.79566e-07 0.004482 1 0 OR2AK2 391191 broad.mit.edu 37 1 248129413 248129413 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:248129413G>A uc010pzd.1 + 1 780 c.780G>A c.(778-780)CTG>CTA p.L260L OR2L13_uc001ids.2_Intron NM_001004491 NP_001004491 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, 260 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) CCTCCCACCTGATTGTGGCAA 0.493 Melanoma(45;390 1181 23848 28461 41504) NA 37 58 0 0 0.004289 0 0 OR2AK2 391191 broad.mit.edu 37 1 248129470 248129470 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:248129470C>T uc010pzd.1 + 1 837 c.837C>T c.(835-837)TCC>TCT p.S279S OR2L13_uc001ids.2_Intron NM_001004491 NP_001004491 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, 279 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) GGCCACACTCCTTGCGTTCCC 0.478 Melanoma(45;390 1181 23848 28461 41504) NA 43 69 0 0 0.002852 0 0 OR2L1P 26247 broad.mit.edu 37 1 248153924 248153924 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:248153924T>A uc001idv.1 + 1 356 c.112T>A c.(112-114)TAT>AAT p.Y38N OR2L13_uc001ids.2_Intron NR_002145 RecName: Full=Olfactory receptor 2L5; AltName: Full=Olfactory receptor OR1-53; 0 ATCAATGGCCTATGATCGTTA 0.458 NA 6 177 0 0 0.001984 0 0 OR2L3 391192 broad.mit.edu 37 1 248224139 248224139 + Silent SNP C C T rs113796306 TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:248224139C>T uc001idx.1 + 1 156 c.156C>T c.(154-156)ACC>ACT p.T52T OR2L13_uc001ids.2_Intron NM_001004687 NP_001004687 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, 52 Cytoplasmic (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) TCTTGGACACCCATCTCCACA 0.403 NA 44 704 0 0 0.00361 0 0 OR2L3 391192 broad.mit.edu 37 1 248224332 248224332 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:248224332A>G uc001idx.1 + 1 349 c.349A>G c.(349-351)ATG>GTG p.M117V OR2L13_uc001ids.2_Intron NM_001004687 NP_001004687 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, 117 Helical; Name=3; (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) TTTGGCATCTATGGCCTATGA 0.438 NA 6 410 0 0 0.001984 0 0 OR2L13 284521 broad.mit.edu 37 1 248263030 248263031 + Missense_Mutation DNP CC CC AA TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:248263030_248263031CC>AA uc001ids.2 + 3 690_691 c.353_354CC>AA c.(352-354)GCC>GAA p.A118E NM_175911 NP_787107 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, 118 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding central_nervous_system(2)|ovary(1)|skin(1) 4 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;0.0132) ACCTCCATGGCCTACGACCGTT 0.51 NA 38 275 0 0 0.004672 0 0 OR2M5 127059 broad.mit.edu 37 1 248308564 248308564 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:248308564T>A uc010pze.1 + 1 115 c.115T>A c.(115-117)TTC>ATC p.F39I NM_001004690 NP_001004690 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, 39 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|kidney(1) 3 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;0.0388) TTCAGTGGCCTTCATGGGAAA 0.517 NA 100 393 0 0 0.00361 0 0 OR2M4 26245 broad.mit.edu 37 1 248402946 248402946 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:248402946C>A uc010pzh.1 + 1 716 c.716C>A c.(715-717)ACT>AAT p.T239N NM_017504 NP_059974 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, 239 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2) 2 all_cancers(71;0.000124)|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;0.0245) AAGGCCTTCACTACCTGCTCC 0.502 NA 17 86 2.35188e-11 3.29333e-11 0.006122 1 0 OR2T3 343173 broad.mit.edu 37 1 248637034 248637034 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:248637034A>G uc001iel.1 + 1 383 c.383A>G c.(382-384)TAT>TGT p.Y128C NM_001005495 NP_001005495 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, 128 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TATGACCGATATGCTGCTGTT 0.552 NA 11 81 0 0 0.010504 0 0 CALML3 810 broad.mit.edu 37 10 5566982 5566983 + Translation_Start_Site DNP CG CG AT TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 CG CG - - CG CG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:5566982_5566983CG>AT uc001iie.1 + 1 59_60 c.-66_-65CG>AT c.(-68--63)GCCGGG>GCATGG uc001iid.1_5'Flank NM_005185 NP_005176 P27482 CALL3_HUMAN calmodulin-like 3 calcium ion binding 0 GGACAGCAGCCGGGCTGCGGCA 0.688 Colon(173;2070 2647 27580 52203) NA 4 9 0 0 0.004672 0 0 FAM171A1 221061 broad.mit.edu 37 10 15296879 15296879 + Splice_Site SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:15296879C>A uc001iob.2 - 4 426 c.419_splice c.e4-1 p.G140_splice NM_001010924 NP_001010924 Q5VUB5 F1711_HUMAN hypothetical protein LOC221061 precursor integral to membrane ovary(2)|breast(1)|skin(1) 4 GGCCGGGCACCTGCAGAGATT 0.552 NA 8 45 1.06961e-07 1.33245e-07 0.00308 1 0 FAM188A 80013 broad.mit.edu 37 10 15821093 15821093 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:15821093G>A uc001iod.1 - 15 1457 c.1236C>T c.(1234-1236)CCC>CCT p.P412P FAM188A_uc001ioe.1_Silent_p.P239P NM_024948 NP_079224 Q9H8M7 F188A_HUMAN chromosome 10 open reading frame 97 412 apoptosis nucleus calcium ion binding ovary(1) 1 TCTGTAGCATGGGATCTTCAA 0.428 Pancreas(159;946 1953 2111 4475 22008) NA 14 40 0 0 0.00245 0 0 CUBN 8029 broad.mit.edu 37 10 16878336 16878337 + Missense_Mutation DNP CC CC AA rs147563157 TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:16878336_16878337CC>AA uc001ioo.2 - 63 10129_10130 c.10077_10078GG>TT c.(10075-10080)TCGGCT>TCTTCT p.A3360S NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 3360 CUB 25. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ACTGGCACAGCCGAAGCATTTC 0.396 NA 10 97 0 0 0.004672 0 0 VIM 7431 broad.mit.edu 37 10 17275676 17275676 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:17275676G>A uc001iou.2 + 4 1128 c.715G>A c.(715-717)GAA>AAA p.E239K VIM_uc001iov.1_Missense_Mutation_p.E239K|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Missense_Mutation_p.E239K|VIM_uc001ioy.1_Missense_Mutation_p.E239K|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Missense_Mutation_p.E239K|VIM_uc001ipc.1_Missense_Mutation_p.E239K NM_003380 NP_003371 P08670 VIME_HUMAN vimentin 239 Rod.|Coil 1B. cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding cytosol|intermediate filament protein C-terminus binding|structural constituent of cytoskeleton large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 GAAACTCCACGAAGAGGTTAG 0.473 NA 13 70 0 0 0.001368 0 0 ARMC3 219681 broad.mit.edu 37 10 23235133 23235134 + Missense_Mutation DNP CC CC GA TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:23235133_23235134CC>GA uc001irm.3 + 3 192_193 c.109_110CC>GA c.(109-111)CCA>GAA p.P37E ARMC3_uc010qcv.1_Missense_Mutation_p.P37E|ARMC3_uc010qcw.1_Intron NM_173081 NP_775104 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 37 ARM 1. binding 0 GCTTAATTCTCCAGAAGAGGAA 0.317 NA 39 89 0 0 0.004672 0 0 GPR158 57512 broad.mit.edu 37 10 25887875 25887875 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:25887875C>A uc001isj.2 + 11 3380 c.3320C>A c.(3319-3321)CCT>CAT p.P1107H GPR158_uc001isk.2_Missense_Mutation_p.P482H NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 1107 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 GGAGGTCAGCCTCGTGCAGCC 0.502 NA 22 147 7.41877e-09 9.6088e-09 0.001882 1 0 MPP7 143098 broad.mit.edu 37 10 28378646 28378646 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:28378646C>A uc001iua.1 - 14 1481 c.1077G>T c.(1075-1077)CCG>CCT p.P359P MPP7_uc009xkz.1_RNA|MPP7_uc001iub.1_Silent_p.P359P|MPP7_uc009xla.2_Silent_p.P359P|MPP7_uc010qdv.1_RNA NM_173496 NP_775767 Q5T2T1 MPP7_HUMAN palmitoylated membrane protein 7 359 establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity ovary(1) 1 GTCGCCGATACGGTGTCACTT 0.383 NA 5 288 1.024e-07 1.27899e-07 0.000602 1 0 SVIL 6840 broad.mit.edu 37 10 29782203 29782203 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:29782203G>A uc001iut.1 - 21 4712 c.3959C>T c.(3958-3960)CCA>CTA p.P1320L SVIL_uc010qdw.1_Missense_Mutation_p.P234L|SVIL_uc001iuu.1_Missense_Mutation_p.P894L|SVIL_uc009xlc.2_Missense_Mutation_p.P112L NM_021738 NP_068506 O95425 SVIL_HUMAN supervillin isoform 2 1320 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding ovary(5)|upper_aerodigestive_tract(1) 6 Breast(68;0.103) AGGACTTCTTGGCATATTATA 0.468 NA 15 47 0 0 0.003163 0 0 KIAA1462 57608 broad.mit.edu 37 10 30317933 30317933 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:30317933C>A uc001iux.2 - 2 1203 c.1144G>T c.(1144-1146)GCC>TCC p.A382S KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.A244S|KIAA1462_uc009xle.1_Missense_Mutation_p.A382S NM_020848 NP_065899 Q9P266 K1462_HUMAN hypothetical protein LOC57608 382 Pro-rich. ovary(4) 4 TGACCGCTGGCCCCAGCCTTC 0.632 NA 54 119 7.77372e-23 1.23857e-22 0.00361 1 0 ZNF33A 7581 broad.mit.edu 37 10 38343873 38343873 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:38343873A>G uc001izh.2 + 5 996 c.818A>G c.(817-819)CAC>CGC p.H273R ZNF33A_uc001izg.2_Missense_Mutation_p.H274R|ZNF33A_uc010qev.1_Missense_Mutation_p.H280R|ZNF33A_uc001izi.1_Intron NM_006974 NP_008905 Q06730 ZN33A_HUMAN zinc finger protein 33A isoform b 273 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(1) 3 AGGGACAATCACTATGAATTT 0.388 NA 32 71 0 0 0.002445 0 0 ZNF37A 7587 broad.mit.edu 37 10 38407520 38407520 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:38407520G>T uc001izk.2 + 8 2260 c.1441G>T c.(1441-1443)GCC>TCC p.A481S ZNF37A_uc001izl.2_Missense_Mutation_p.A481S|ZNF37A_uc001izm.2_Missense_Mutation_p.A481S NM_001007094 NP_001007095 P17032 ZN37A_HUMAN zinc finger protein 37a 481 C2H2-type 10. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1) 1 TCAGAAGTCAGCCCTAATTGT 0.408 NA 17 96 8.60227e-14 1.24884e-13 0.004007 1 0 RET 5979 broad.mit.edu 37 10 43596063 43596063 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:43596063G>T uc001jal.2 + 2 420 c.230G>T c.(229-231)CGC>CTC p.R77L RET_uc001jak.1_Missense_Mutation_p.R77L NM_020975 NP_066124 P07949 RET_HUMAN ret proto-oncogene isoform a 77 Extracellular (Potential). R -> C (in HSCR1). homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1) 451 Ovarian(717;0.0423) Sunitinib(DB01268) GGCACGTACCGCACACGGCTG 0.642 Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149) 1 T|Mis|N|F H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3 medullary thyroid| papillary thyroid|pheochromocytoma medullary thyroid| papillary thyroid|pheochromocytoma Hirschsprung disease Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma 12 20 3.07112e-06 3.65297e-06 0.000978 1 0 PCDH15 65217 broad.mit.edu 37 10 55582700 55582700 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:55582700C>A uc001jju.1 - 33 5181 c.4786G>T c.(4786-4788)GAT>TAT p.D1596Y PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.D1593Y|PCDH15_uc010qhw.1_Missense_Mutation_p.D1556Y|PCDH15_uc010qhx.1_Missense_Mutation_p.D1527Y|PCDH15_uc010qhy.1_Missense_Mutation_p.D1603Y|PCDH15_uc010qhz.1_Missense_Mutation_p.D1598Y|PCDH15_uc010qia.1_Missense_Mutation_p.D1576Y|PCDH15_uc010qib.1_Missense_Mutation_p.D1573Y NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1596 Cytoplasmic (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) TGCTGCAGATCTATGATCTCT 0.468 NA HNSCC(58;0.16) 7 246 8.12818e-05 9.27259e-05 0.001984 1 0 PCDH15 65217 broad.mit.edu 37 10 56077052 56077052 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:56077052G>A uc001jju.1 - 8 1250 c.855C>T c.(853-855)GCC>GCT p.A285A PCDH15_uc010qhq.1_Silent_p.A290A|PCDH15_uc010qhr.1_Silent_p.A285A|PCDH15_uc010qhs.1_Silent_p.A290A|PCDH15_uc010qht.1_Silent_p.A285A|PCDH15_uc010qhu.1_Silent_p.A285A|PCDH15_uc001jjv.1_Silent_p.A263A|PCDH15_uc010qhv.1_Silent_p.A285A|PCDH15_uc010qhw.1_Silent_p.A248A|PCDH15_uc010qhx.1_Silent_p.A285A|PCDH15_uc010qhy.1_Silent_p.A290A|PCDH15_uc010qhz.1_Silent_p.A285A|PCDH15_uc010qia.1_Silent_p.A263A|PCDH15_uc010qib.1_Silent_p.A263A|PCDH15_uc001jjw.2_Silent_p.A285A NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 285 Cadherin 3.|Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) ACTCAGGTATGGCAGCTTGAT 0.413 NA HNSCC(58;0.16) 18 76 0 0 0.008871 0 0 FAM13C 220965 broad.mit.edu 37 10 61011385 61011385 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:61011385C>T uc001jkn.2 - 14 1718 c.1584G>A c.(1582-1584)CTG>CTA p.L528L FAM13C_uc001jko.2_Silent_p.L430L|FAM13C_uc010qid.1_Silent_p.L444L|FAM13C_uc010qie.1_Silent_p.L445L|FAM13C_uc010qif.1_Silent_p.L550L NM_198215 NP_937858 Q8NE31 FA13C_HUMAN hypothetical protein LOC220965 isoform 1 528 ovary(2) 2 AGGCTTTCCGCAGTCTCTTCT 0.393 NA 62 207 0 0 0.00361 0 0 ANK3 288 broad.mit.edu 37 10 62038579 62038579 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:62038579C>A uc001jky.2 - 4 559 c.367G>T c.(367-369)GTA>TTA p.V123L ANK3_uc010qih.1_Missense_Mutation_p.V106L|ANK3_uc001jkz.3_Missense_Mutation_p.V117L|ANK3_uc001jlb.1_5'UTR NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 123 ANK 2. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 AAGACTTTTACCACCTCTGCT 0.388 NA 11 139 1.08611e-07 1.34768e-07 0.000978 1 0 RHOBTB1 9886 broad.mit.edu 37 10 62634766 62634766 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:62634766G>A uc001jli.2 - 10 2199 c.1761C>T c.(1759-1761)GCC>GCT p.A587A RHOBTB1_uc001jlh.2_Silent_p.A587A|RHOBTB1_uc001jlj.2_Silent_p.A587A|RHOBTB1_uc001jlk.2_Silent_p.A587A|RHOBTB1_uc009xpe.1_Silent_p.A525A|RHOBTB1_uc009xpd.2_Silent_p.A52A|RHOBTB1_uc001jll.2_Silent_p.A337A NM_014836 NP_055651 O94844 RHBT1_HUMAN Rho-related BTB domain containing 1 587 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding upper_aerodigestive_tract(1) 1 Prostate(12;0.0112) CGCCACTCGTGGCGGCTTTGG 0.512 NA 13 95 0 0 0.003163 0 0 CTNNA3 29119 broad.mit.edu 37 10 68526032 68526032 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:68526032C>A uc009xpn.1 - 9 1394 c.1271G>T c.(1270-1272)AGG>ATG p.R424M CTNNA3_uc001jmw.2_Missense_Mutation_p.R424M|CTNNA3_uc001jmx.3_Missense_Mutation_p.R424M NM_001127384 NP_001120856 Q9UI47 CTNA3_HUMAN catenin, alpha 3 424 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1) 8 CTCTACAAGCCTGCTGGTGTG 0.408 NA 29 234 1.39806e-14 2.04846e-14 0.008361 1 0 C10orf27 219793 broad.mit.edu 37 10 72539460 72539460 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:72539460G>A uc001jrj.1 - 5 706 c.316C>T c.(316-318)CCA>TCA p.P106S C10orf27_uc010qjm.1_Missense_Mutation_p.P106S|C10orf27_uc009xqh.1_RNA|C10orf27_uc010qjn.1_Missense_Mutation_p.P106S|C10orf27_uc009xqi.1_Intron|C10orf27_uc010qjo.1_Missense_Mutation_p.P95S|C10orf27_uc009xqj.1_Silent_p.F100F|C10orf27_uc010qjp.1_Missense_Mutation_p.P95S NM_152710 NP_689923 Q96M53 SPATL_HUMAN stromal protein associated with thymii and lymph 106 cell differentiation|multicellular organismal development|spermatogenesis cytosol skin(1) 1 AAGGGGGCTGGAAAATCCCTG 0.562 NA 7 80 0 0 0.004482 0 0 CDH23 64072 broad.mit.edu 37 10 73269950 73269950 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:73269950T>A uc001jrx.3 + 4 634 c.257T>A c.(256-258)GTG>GAG p.V86E CDH23_uc001jrw.3_Missense_Mutation_p.V86E|CDH23_uc001jrv.2_Missense_Mutation_p.V81E|CDH23_uc009xql.2_Missense_Mutation_p.V131E NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 86 Cadherin 1.|Extracellular (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 GACACTGGCGTGGTGTGGCTC 0.617 NA 7 37 0 0 0.001882 0 0 DLG5 9231 broad.mit.edu 37 10 79571774 79571774 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:79571774C>T uc001jzk.2 - 22 4300 c.4230G>A c.(4228-4230)GCG>GCA p.A1410A DLG5_uc001jzi.2_Silent_p.A165A|DLG5_uc001jzj.2_Silent_p.A825A|DLG5_uc009xru.1_RNA NM_004747 NP_004738 Q8TDM6 DLG5_HUMAN discs large homolog 5 1410 PDZ 3. cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity ovary(5)|breast(3) 8 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) TGATGAGCCGCGCCTGCTGCT 0.652 NA 12 100 0 0 0.00245 0 0 NRG3 10718 broad.mit.edu 37 10 84745279 84745279 + Missense_Mutation SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:84745279T>C uc001kco.2 + 9 2036 c.2009T>C c.(2008-2010)CTG>CCG p.L670P NRG3_uc010qlz.1_Missense_Mutation_p.L669P|NRG3_uc001kcp.2_Missense_Mutation_p.L473P|NRG3_uc001kcq.2_Missense_Mutation_p.L320P|NRG3_uc001kcr.2_Missense_Mutation_p.L344P NM_001010848 NP_001010848 P56975 NRG3_HUMAN neuregulin 3 isoform 1 694 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) TTTCTCCCCCTGAGTCCCACA 0.478 NA 17 106 0 0 0.007413 0 0 PANK1 53354 broad.mit.edu 37 10 91371758 91371758 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:91371758C>A uc001kgp.1 - 2 907 c.751G>T c.(751-753)GTG>TTG p.V251L PANK1_uc001kgn.1_Missense_Mutation_p.V26L|PANK1_uc001kgo.1_Missense_Mutation_p.V26L|PANK1_uc009xtu.1_Missense_Mutation_p.V53L NM_148977 NP_683878 Q8TE04 PANK1_HUMAN pantothenate kinase 1 isoform alpha 251 coenzyme A biosynthetic process|pantothenate metabolic process cytosol|nucleus ATP binding|pantothenate kinase activity 0 Bezafibrate(DB01393) TCGAAATACACCAATTTAACC 0.458 NA 14 104 3.45872e-05 4.00839e-05 0.004007 1 0 CYP2C9 1559 broad.mit.edu 37 10 96748684 96748684 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:96748684C>T uc001kka.3 + 9 1397 c.1372C>T c.(1372-1374)CTG>TTG p.L458L CYP2C9_uc009xut.2_Silent_p.L456L NM_000771 NP_000762 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, 458 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity skin(4)|ovary(2) 6 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) GAACTTTAACCTGAAATCTCT 0.473 Ovarian(54;1266 1406 16072 35076) NA 29 216 0 0 0.008361 0 0 OBFC1 79991 broad.mit.edu 37 10 105659884 105659884 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:105659884C>T uc001kxl.2 - 4 468 c.393G>A c.(391-393)ACG>ACA p.T131T OBFC1_uc001kxm.2_Silent_p.T131T|OBFC1_uc001kxn.2_RNA NM_024928 NP_079204 Q9H668 STN1_HUMAN oligonucleotide/oligosaccharide-binding fold 131 OB. positive regulation of DNA replication|telomere maintenance via telomere lengthening protein binding|single-stranded telomeric DNA binding ovary(1) 1 Colorectal(252;0.178) Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151) TGACTCGGATCGTGTCCCCGA 0.458 NA 6 153 0 0 0.001984 0 0 SLK 9748 broad.mit.edu 37 10 105763286 105763286 + Splice_Site SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:105763286G>A uc001kxo.1 + 9 2383 c.2349_splice c.e9+1 p.Q783_splice SLK_uc001kxp.1_Splice_Site_p.Q783_splice NM_014720 NP_055535 Q9H2G2 SLK_HUMAN serine/threonine kinase 2 apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) ATCTTTACAAGTAAGTGTACA 0.333 NSCLC(111;540 1651 1927 4474 17706) NA 14 123 0 0 0.003163 0 0 TDRD1 56165 broad.mit.edu 37 10 115977387 115977387 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:115977387G>A uc001lbg.1 + 17 2449 c.2296G>A c.(2296-2298)GGA>AGA p.G766R TDRD1_uc001lbf.2_Missense_Mutation_p.G700R|TDRD1_uc001lbh.1_Missense_Mutation_p.G757R|TDRD1_uc001lbi.1_Missense_Mutation_p.G757R|TDRD1_uc010qsc.1_Missense_Mutation_p.G370R|TDRD1_uc001lbj.2_Missense_Mutation_p.G475R NM_198795 NP_942090 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 766 Tudor 3. DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding 0 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) GGCAGAGATAGGACAACCTTG 0.348 NA 14 38 0 0 0.003163 0 0 PNLIPRP3 119548 broad.mit.edu 37 10 118215342 118215342 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:118215342G>T uc001lcl.3 + 5 666 c.565G>T c.(565-567)GGG>TGG p.G189W NM_001011709 NP_001011709 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 precursor 189 lipid catabolic process extracellular region triglyceride lipase activity ovary(1) 1 all cancers(201;0.0131) AAGAATAACTGGTAAGCATGC 0.448 NA 11 44 0.000673444 0.000742355 0.008291 1 0 PNLIP 5406 broad.mit.edu 37 10 118314780 118314780 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:118314780C>A uc001lcm.2 + 7 705 c.662C>A c.(661-663)ACG>AAG p.T221K NM_000936 NP_000927 P16233 LIPP_HUMAN pancreatic lipase precursor 221 lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) GTAATTCACACGGATGGTGCC 0.483 NA 11 96 1.08611e-07 1.34768e-07 0.000978 1 0 PNLIP 5406 broad.mit.edu 37 10 118318690 118318690 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:118318690G>A uc001lcm.2 + 10 998 c.955G>A c.(955-957)GGA>AGA p.G319R NM_000936 NP_000927 P16233 LIPP_HUMAN pancreatic lipase precursor 319 lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) TTGTCCAAGTGGAGGCTGCCC 0.413 NA 13 56 0 0 0.006122 0 0 PNLIPRP1 5407 broad.mit.edu 37 10 118350659 118350659 + Silent SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:118350659A>T uc001lco.1 + 2 36 c.18A>T c.(16-18)ACA>ACT p.T6T PNLIPRP1_uc001lcp.2_Silent_p.T6T|PNLIPRP1_uc001lcn.2_Silent_p.T6T|PNLIPRP1_uc009xys.1_RNA NM_006229 NP_006220 P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 precursor 6 lipid metabolic process calcium ion binding|triglyceride lipase activity ovary(1)|breast(1) 2 all cancers(201;0.0161) TCTTCTGGACAATCACACTTT 0.493 NA 8 55 0 0 0.006214 0 0 PNLIPRP2 5408 broad.mit.edu 37 10 118383456 118383456 + Splice_Site SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:118383456G>T uc001lcq.2 + 3 76 c.53_splice c.e3-1 p.G18_splice PNLIPRP2_uc009xyu.1_Splice_Site|PNLIPRP2_uc009xyv.1_Splice_Site NM_005396 NP_005387 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity large_intestine(1) 1 all cancers(201;0.015) GCTCACCCTAGGAAAAGAGTC 0.493 NA 15 49 2.32078e-09 3.06421e-09 0.003163 1 0 SLC18A2 6571 broad.mit.edu 37 10 119027241 119027241 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:119027241G>C uc001ldd.1 + 13 1211 c.1180G>C c.(1180-1182)GCA>CCA p.A394P SLC18A2_uc009xyy.1_Missense_Mutation_p.A191P NM_003054 NP_003045 Q05940 VMAT2_HUMAN solute carrier family 18 (vesicular monoamine), 394 Helical; (Potential). neurotransmitter secretion clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction monoamine transmembrane transporter activity 0 Colorectal(252;0.19) all cancers(201;0.029) Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844) AGTTGGTTTTGCAATTGGTAA 0.383 NA 3 44 0 0 0.000602 0 0 INPP5F 22876 broad.mit.edu 37 10 121571426 121571426 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:121571426G>T uc001leo.2 + 15 2011 c.1845G>T c.(1843-1845)GAG>GAT p.E615D NM_014937 NP_055752 Q9Y2H2 SAC2_HUMAN inositol polyphosphate-5-phosphatase F 615 phosphoric ester hydrolase activity ovary(2) 2 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158) CTGATGATGAGAAGTTCCATG 0.463 NA 21 121 1.96292e-10 2.68909e-10 0.010504 1 0 NPS 594857 broad.mit.edu 37 10 129350781 129350781 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:129350781G>C uc001ljx.1 + 3 168 c.148G>C c.(148-150)GAC>CAC p.D50H NM_001030013 NP_001025184 P0C0P6 NPS_HUMAN neuropeptide S precursor 50 neuropeptide signaling pathway extracellular region 0 AACCAGATTGGACAGGAGCAA 0.428 NA 15 608 0 0 0.007413 0 0 B4GALNT4 338707 broad.mit.edu 37 11 373108 373108 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:373108C>A uc001lpb.2 + 5 536 c.527C>A c.(526-528)GCG>GAG p.A176E NM_178537 NP_848632 Q76KP1 B4GN4_HUMAN beta 176 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) ATCCACCCGGCGAGGGACGGT 0.627 NA 30 74 1.39806e-14 2.04846e-14 0.008361 1 0 MUC2 4583 broad.mit.edu 37 11 1101128 1101128 + Silent SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:1101128G>T uc001lsx.1 + 44 14640 c.14613G>T c.(14611-14613)ACG>ACT p.T4871T NM_002457 NP_002448 Q02817 MUC2_HUMAN mucin 2 precursor 4871 VWFC 1. 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) ACCTCGCCACGGAGGTCAACC 0.622 NA 12 62 2.68362e-12 3.79146e-12 0.001368 1 0 OR51F1 256892 broad.mit.edu 37 11 4790262 4790262 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:4790262C>A uc010qyl.1 - 1 886 c.886G>T c.(886-888)GTA>TTA p.V296L NM_001004752 NP_001004752 A6NLW9 A6NLW9_HUMAN olfactory receptor, family 51, subfamily F, 296 integral to membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192) TTTGTTTTTACACTGTCGATG 0.448 NA 34 70 4.44401e-20 6.86144e-20 0.002522 1 0 OR51B2 79345 broad.mit.edu 37 11 5345488 5345488 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:5345488C>G uc001mao.1 - 1 95 c.40G>C c.(40-42)GGC>CGC p.G14R HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron NM_033180 NP_149420 Q9Y5P1 O51B2_HUMAN olfactory receptor, family 51, subfamily B, 14 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCTGGAAAGCCAGTCAGCAAA 0.488 NA OREG0003719 type=REGULATORY REGION|Gene=OR51B2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 7 52 0 0 0.00308 0 0 OR52B6 340980 broad.mit.edu 37 11 5602329 5602329 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:5602329C>A uc010qzi.1 + 1 223 c.223C>A c.(223-225)CTG>ATG p.L75M HBG2_uc001mak.1_Intron NM_001005162 NP_001005162 Q8NGF0 O52B6_HUMAN olfactory receptor, family 52, subfamily B, 75 Helical; Name=2; (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) CCAGGCAATCCTGCATGAGCC 0.507 NA 50 92 9.52127e-25 1.53768e-24 0.00361 1 0 OR56A3 390083 broad.mit.edu 37 11 5968750 5968750 + Silent SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:5968750T>A uc010qzt.1 + 1 174 c.174T>A c.(172-174)TCT>TCA p.S58S NM_001003443 NP_001003443 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, 58 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGGAGGCCTCTCTGCACCAGC 0.617 NA 5 138 0 0 0.001168 0 0 OR10A2 341276 broad.mit.edu 37 11 6891892 6891892 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:6891892C>A uc001meu.1 + 1 907 c.907C>A c.(907-909)CCA>ACA p.P303T NM_001004460 NP_001004460 Q9H208 O10A2_HUMAN olfactory receptor, family 10, subfamily A, 303 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) AAACTGTATCCCATAGACCTT 0.453 NA 47 103 3.54909e-21 5.56122e-21 0.002852 1 0 NLRP14 338323 broad.mit.edu 37 11 7064041 7064041 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:7064041G>A uc001mfb.1 + 4 1107 c.784G>A c.(784-786)GAT>AAT p.D262N NM_176822 NP_789792 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 262 NACHT. cell differentiation|multicellular organismal development|spermatogenesis ATP binding ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1) 8 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) TGACAGTTTCGATGAACTGAA 0.453 NA 42 138 0 0 0.00874 0 0 NLRP14 338323 broad.mit.edu 37 11 7079669 7079669 + Missense_Mutation SNP T T G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:7079669T>G uc001mfb.1 + 8 2944 c.2621T>G c.(2620-2622)CTG>CGG p.L874R NM_176822 NP_789792 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 874 LRR 6. cell differentiation|multicellular organismal development|spermatogenesis ATP binding ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1) 8 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) CAATGTACTCTGAAGAGCCTT 0.343 NA 6 158 0 0 0.004482 0 0 ANO3 63982 broad.mit.edu 37 11 26538397 26538397 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:26538397C>T uc001mqt.3 + 6 760 c.615C>T c.(613-615)ATC>ATT p.I205I ANO3_uc010rdr.1_Silent_p.I189I|ANO3_uc010rds.1_Silent_p.I59I|ANO3_uc010rdt.1_Silent_p.I59I NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN transmembrane protein 16C 205 Cytoplasmic (Potential). chloride channel complex chloride channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 GCCCCGATATCATGTTTATTA 0.383 NA 4 28 0 0 0.009096 0 0 KCNA4 3739 broad.mit.edu 37 11 30034035 30034035 + Missense_Mutation SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:30034035T>C uc001msk.2 - 2 1343 c.191A>G c.(190-192)CAC>CGC p.H64R NM_002233 NP_002224 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related 64 Poly-His. voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 TGACTGGTGGTGGTGGTGGGA 0.652 NA 6 25 0 0 0.001855 0 0 QSER1 79832 broad.mit.edu 37 11 32953814 32953814 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:32953814C>T uc001mty.2 + 4 890 c.623C>T c.(622-624)TCA>TTA p.S208L QSER1_uc001mtz.1_Missense_Mutation_p.S208L|QSER1_uc001mua.2_5'Flank NM_001076786 NP_001070254 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 208 Ser-rich. ovary(3)|central_nervous_system(2)|skin(1) 6 Breast(20;0.158) CTGACTGGTTCACAGCACTCC 0.418 NA 5 120 0 0 0.000602 0 0 RAG1 5896 broad.mit.edu 37 11 36596535 36596535 + Missense_Mutation SNP C C T rs104894285 TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:36596535C>T uc001mwu.3 + 2 1805 c.1681C>T c.(1681-1683)CGC>TGC p.R561C RAG1_uc001mwt.2_RNA NM_000448 NP_000439 P15918 RAG1_HUMAN recombination activating gene 1 561 R -> C (in OS).|R -> H (in OS). histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1) 5 all_lung(20;0.226) all_hematologic(20;0.107) AAAGAGGTTCCGCTATGATTC 0.468 Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363) NA Familial_Hemophagocytic_Lymphohistiocytosis 4 81 0 0 0.000602 0 0 RAG1 5896 broad.mit.edu 37 11 36596940 36596940 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:36596940G>T uc001mwu.3 + 2 2210 c.2086G>T c.(2086-2088)GGC>TGC p.G696C RAG1_uc001mwt.2_RNA NM_000448 NP_000439 P15918 RAG1_HUMAN recombination activating gene 1 696 histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1) 5 all_lung(20;0.226) all_hematologic(20;0.107) TGAGCTGGGAGGCATTCTCCG 0.532 Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363) NA Familial_Hemophagocytic_Lymphohistiocytosis 28 62 1.68575e-08 2.16544e-08 0.007291 1 0 TTC17 55761 broad.mit.edu 37 11 43427092 43427092 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:43427092G>T uc001mxi.2 + 12 1522 c.1508G>T c.(1507-1509)AGA>ATA p.R503I TTC17_uc001mxh.2_Missense_Mutation_p.R503I|TTC17_uc010rfj.1_Missense_Mutation_p.R446I|TTC17_uc001mxj.2_Missense_Mutation_p.R273I NM_018259 NP_060729 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 503 binding ovary(5) 5 TGGCCTAAAAGAGCAGATTGT 0.368 NA 155 192 2.07621e-90 3.47133e-90 0.00361 1 0 ACCSL 390110 broad.mit.edu 37 11 44074297 44074297 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:44074297C>A uc001mxw.1 + 6 914 c.858C>A c.(856-858)CAC>CAA p.H286Q ACCSL_uc009ykr.2_Missense_Mutation_p.H105Q NM_001031854 NP_001027025 Q4AC99 1A1L2_HUMAN 1-aminocyclopropane-1-carboxylate synthase 286 1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups ovary(5) 5 TTCCTGTCCACCTGGAGAGTG 0.542 NA 251 253 8.08517e-138 1.3542e-137 0.00361 1 0 MADD 8567 broad.mit.edu 37 11 47307001 47307001 + Splice_Site SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:47307001G>T uc001ner.1 + 14 2603 c.2412_splice c.e14-1 p.R804_splice MADD_uc001neq.2_Splice_Site_p.R804_splice|MADD_uc001nev.1_Splice_Site_p.G761_splice|MADD_uc001nes.1_Splice_Site_p.G761_splice|MADD_uc001net.1_Splice_Site_p.R804_splice|MADD_uc009yln.1_Splice_Site_p.G761_splice|MADD_uc001neu.1_Splice_Site_p.G761_splice|MADD_uc001nex.2_Splice_Site_p.R804_splice|MADD_uc001nez.2_Splice_Site_p.G761_splice|MADD_uc001new.2_Splice_Site_p.R804_splice NM_003682 NP_003673 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain-containing activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity ovary(5)|skin(4)|central_nervous_system(2) 11 Lung(87;0.182) GTGCATTCAAGGGCTCAAAAG 0.547 NA 34 249 1.36161e-19 2.09208e-19 0.004289 1 0 OR4C3 256144 broad.mit.edu 37 11 48346719 48346719 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:48346719C>G uc010rhv.1 + 1 227 c.227C>G c.(226-228)TCC>TGC p.S76C NM_001004702 NP_001004702 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, 49 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 ACTATCACCTCCAGCCCCACG 0.458 NA 6 250 0 0 0.001984 0 0 OR4A16 81327 broad.mit.edu 37 11 55111106 55111106 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:55111106G>T uc010rie.1 + 1 430 c.430G>T c.(430-432)GTG>TTG p.V144L NM_001005274 NP_001005274 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, 144 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(2)|pancreas(1) 3 CCTTCTGTTGGTGGTGGCCAT 0.463 NA 39 163 7.63091e-17 1.14464e-16 0.007835 1 0 OR5D14 219436 broad.mit.edu 37 11 55563765 55563765 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:55563765C>T uc010rim.1 + 1 734 c.734C>T c.(733-735)TCC>TTC p.S245F NM_001004735 NP_001004735 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, 245 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_epithelial(135;0.196) ACCTGGGCCTCCCACCTGACT 0.463 NA 19 126 0 0 0.00278 0 0 OR5L1 219437 broad.mit.edu 37 11 55579236 55579237 + Missense_Mutation DNP GG GG AA TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:55579236_55579237GG>AA uc001nhw.1 + 1 294_295 c.294_295GG>AA c.(292-297)ATGGTG>ATAATG p.98_99MV>IM NM_001004738 NP_001004738 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, 98_99 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(2) 5 all_epithelial(135;0.208) TAGGGTGCATGGTGCAATTCTA 0.45 NA 9 322 0 0 0.004672 0 0 OR5D18 219438 broad.mit.edu 37 11 55587852 55587852 + Silent SNP C C T rs148575844 TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:55587852C>T uc010rin.1 + 1 747 c.747C>T c.(745-747)ATC>ATT p.I249I NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, 249 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.208) TGACTGCCATCACCATCTTCC 0.517 NA 24 88 0 0 0.002299 0 0 SPRYD5 84767 broad.mit.edu 37 11 55653024 55653024 + Nonsense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:55653024C>G uc010rip.1 + 2 212 c.120C>G c.(118-120)TAC>TAG p.Y40* SPRYD5_uc010riq.1_5'Flank NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN SPRY domain containing 5 40 RING-type. intracellular zinc ion binding 0 all_epithelial(135;0.226) CCTGTTTGTACCTCAACTGGC 0.507 NA 5 71 0 0 0.000602 0 0 SPRYD5 84767 broad.mit.edu 37 11 55657475 55657475 + Silent SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:55657475G>T uc010rip.1 + 6 911 c.819G>T c.(817-819)GGG>GGT p.G273G SPRYD5_uc010riq.1_Silent_p.G130G NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN SPRY domain containing 5 273 B30.2/SPRY. intracellular zinc ion binding 0 all_epithelial(135;0.226) TCAGTGCAGGGCCCATCACTG 0.498 NA 5 45 3.59834e-05 4.13983e-05 0.001168 1 0 OR8H3 390152 broad.mit.edu 37 11 55890117 55890117 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:55890117A>G uc001nii.1 + 1 269 c.269A>G c.(268-270)AAC>AGC p.N90S NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, 90 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00693) CTGACTTCCAACTATATTTCC 0.423 NA 21 693 0 0 0.00278 0 0 OR5AR1 219493 broad.mit.edu 37 11 56431427 56431427 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:56431427A>T uc010rjm.1 + 1 266 c.266A>T c.(265-267)CAC>CTC p.H89L NM_001004730 NP_001004730 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, 89 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CTAACAAATCACAAAGTTATC 0.498 NA 10 388 0 0 0.006214 0 0 OR10Q1 219960 broad.mit.edu 37 11 57996204 57996204 + Silent SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:57996204G>T uc010rkd.1 - 1 144 c.144C>A c.(142-144)GCC>GCA p.A48A NM_001004471 NP_001004471 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, 48 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Breast(21;0.0589) CCCAGATGATGGCTGTGTTGC 0.527 NA 18 114 2.4624e-09 3.24216e-09 0.008871 1 0 MS4A6A 64231 broad.mit.edu 37 11 59945759 59945759 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:59945759T>A uc001nor.2 - 4 551 c.313A>T c.(313-315)ACA>TCA p.T105S MS4A6A_uc001noq.2_Missense_Mutation_p.T105S|MS4A6A_uc001nos.3_Missense_Mutation_p.T133S|MS4A6A_uc009ymv.2_Missense_Mutation_p.T105S|MS4A6A_uc001not.2_Missense_Mutation_p.T105S|MS4A6A_uc010rla.1_Missense_Mutation_p.T133S|MS4A6A_uc010rlb.1_Missense_Mutation_p.T60S NM_152852 NP_690591 Q9H2W1 M4A6A_HUMAN membrane-spanning 4-domains, subfamily A, member 105 Helical; (Potential). integral to membrane receptor activity 0 CTTTTCTCTGTGGCGATTGAT 0.393 NA 9 81 0 0 0.006214 0 0 TMEM132A 54972 broad.mit.edu 37 11 60703933 60703933 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:60703933C>G uc001nqj.2 + 11 2819 c.2626C>G c.(2626-2628)CAG>GAG p.Q876E TMEM132A_uc001nqi.2_Missense_Mutation_p.Q877E|TMEM132A_uc001nqm.2_Missense_Mutation_p.Q86E NM_178031 NP_821174 Q24JP5 T132A_HUMAN transmembrane protein 132A isoform b 876 Binds to HSPA5/GRP78 (By similarity).|Cytoplasmic (Potential).|Confers cellular localization similar to full-length form (By similarity). endoplasmic reticulum membrane|Golgi membrane|integral to membrane skin(1) 1 CCTGCGCTATCAGCGCAAAGA 0.607 NA 7 194 0 0 0.001984 0 0 C11orf84 144097 broad.mit.edu 37 11 63586320 63586320 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:63586320C>A uc001nxt.2 + 5 1016 c.780C>A c.(778-780)GCC>GCA p.A260A NM_138471 NP_612480 Q9BUA3 CK084_HUMAN hypothetical protein LOC144097 260 0 CAGCACCAGCCGAGGTCCGAC 0.632 NA 35 54 1.15183e-24 1.85704e-24 0.009718 1 0 SLC22A11 55867 broad.mit.edu 37 11 64323733 64323733 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:64323733T>A uc001oai.2 + 1 636 c.262T>A c.(262-264)TTC>ATC p.F88I SLC22A11_uc001oah.1_Missense_Mutation_p.F88I|SLC22A11_uc001oaj.2_Missense_Mutation_p.F88I|SLC22A11_uc009ypq.2_Missense_Mutation_p.F88I NM_018484 NP_060954 Q9NSA0 S22AB_HUMAN solute carrier family 22 member 11 88 Extracellular (Potential). urate metabolic process apical plasma membrane|external side of plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity ovary(1)|central_nervous_system(1) 2 Probenecid(DB01032) GTGCCGCCGCTTCCGCCAGCC 0.657 NA OREG0004031 type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 9 47 0 0 0.001368 0 0 GAL3ST3 89792 broad.mit.edu 37 11 65810715 65810715 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:65810715G>T uc001ogv.2 - 2 719 c.559C>A c.(559-561)CCC>ACC p.P187T GAL3ST3_uc001ogw.2_Missense_Mutation_p.P187T NM_033036 NP_149025 Q96A11 G3ST3_HUMAN galactose-3-O-sulfotransferase 3 187 Lumenal (Potential). monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity ovary(1) 1 TATGCCTCGGGCGCGCGCAGG 0.677 NA 26 40 1.17739e-12 1.67845e-12 0.005443 1 0 BRMS1 25855 broad.mit.edu 37 11 66109713 66109713 + Splice_Site SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:66109713C>T uc001ohp.1 - 2 141 c.-6_splice c.e2-1 BRMS1_uc001oho.1_Splice_Site|BRMS1_uc009yre.2_5'Flank NM_015399 NP_056214 Q9HCU9 BRMS1_HUMAN breast cancer metastasis suppressor 1 isoform 1 apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent cytoplasm|nucleus NF-kappaB binding 0 CATCTGGACTCTGGGAGAAGG 0.542 GBM(7;55 307 2662 20856 28942) NA 19 142 0 0 0.008871 0 0 RHOD 29984 broad.mit.edu 37 11 66837915 66837915 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:66837915A>G uc001ojv.2 + 4 435 c.350A>G c.(349-351)CAT>CGT p.H117R NM_014578 NP_055393 O00212 RHOD_HUMAN ras homolog D precursor 117 regulation of small GTPase mediated signal transduction|Rho protein signal transduction cytosol|plasma membrane GTP binding|GTPase activity 0 GAAGTGAATCATTTCTGCAAG 0.567 NA 32 56 0 0 0.003271 0 0 GPR152 390212 broad.mit.edu 37 11 67219375 67219375 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:67219375C>A uc001olm.2 - 1 826 c.821G>T c.(820-822)TGG>TTG p.W274L uc009yrw.1_5'Flank|CABP4_uc001oln.2_5'Flank NM_206997 NP_996880 Q8TDT2 GP152_HUMAN G protein-coupled receptor 152 274 Helical; Name=6; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) CAGGGCCTCCCAGAGCAGGTA 0.627 Pancreas(102;800 1581 2723 7382 33622) NA 31 90 6.04164e-23 9.64222e-23 0.002096 1 0 SUV420H1 51111 broad.mit.edu 37 11 67925826 67925826 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:67925826C>A uc001onm.1 - 11 2243 c.1987G>T c.(1987-1989)GTG>TTG p.V663L SUV420H1_uc009yse.1_Missense_Mutation_p.V249L|SUV420H1_uc001onn.1_Missense_Mutation_p.V491L|SUV420H1_uc009ysf.2_Missense_Mutation_p.V423L NM_017635 NP_060105 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 isoform 663 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding ovary(2)|kidney(1) 3 GTGTAGCTCACAGGCACGCCC 0.493 NA 7 100 0.00307968 0.00329147 0.00308 1 0 SUV420H1 51111 broad.mit.edu 37 11 67926156 67926156 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:67926156C>T uc001onm.1 - 11 1913 c.1657G>A c.(1657-1659)GAC>AAC p.D553N SUV420H1_uc009yse.1_Missense_Mutation_p.D139N|SUV420H1_uc001onn.1_Missense_Mutation_p.D381N|SUV420H1_uc009ysf.2_Missense_Mutation_p.D313N NM_017635 NP_060105 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 isoform 553 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding ovary(2)|kidney(1) 3 AGCTTGATGTCAGAGGCCTCC 0.537 NA 7 355 0 0 0.004482 0 0 LRP5 4041 broad.mit.edu 37 11 68171004 68171004 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:68171004G>A uc001ont.2 + 8 1713 c.1638G>A c.(1636-1638)CCG>CCA p.P546P LRP5_uc009ysg.2_5'UTR NM_002335 NP_002326 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 546 LDL-receptor class B 9.|Beta-propeller 2.|Extracellular (Potential). adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1) 7 ACAAGCTCCCGCACATTTTTG 0.607 NA 12 90 0 0 0.001855 0 0 KRTAP5-11 440051 broad.mit.edu 37 11 71293440 71293440 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:71293440G>A uc001oqu.2 - 1 482 c.444C>T c.(442-444)GTC>GTT p.V148V NM_001005405 NP_001005405 Q6L8G4 KR511_HUMAN keratin associated protein 5-11 148 6.|6 X 4 AA repeats of C-C-X-P. keratin filament 0 AGCACACGGGGACAcagcagc 0.249 NA 8 78 0 0 0.001855 0 0 RELT 84957 broad.mit.edu 37 11 73103419 73103419 + Silent SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:73103419G>T uc001otv.2 + 6 696 c.531G>T c.(529-531)CTG>CTT p.L177L RELT_uc001otw.2_Silent_p.L177L|RELT_uc009yto.1_Silent_p.L95L|RELT_uc001otx.2_5'Flank NM_152222 NP_689408 Q969Z4 TR19L_HUMAN RELT tumor necrosis factor receptor precursor 177 Helical; (Potential). cytoplasm|integral to membrane|plasma membrane binding|receptor activity upper_aerodigestive_tract(1) 1 TCATGGGGCTGTTGGGCATCC 0.682 NA 19 60 8.10497e-08 1.01634e-07 0.010504 1 0 C11orf82 220042 broad.mit.edu 37 11 82625869 82625869 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:82625869C>G uc001ozt.2 + 3 333 c.89C>G c.(88-90)TCT>TGT p.S30C C11orf82_uc010rsr.1_5'UTR|C11orf82_uc010rss.1_5'UTR|C11orf82_uc009yvd.2_Missense_Mutation_p.S30C NM_145018 NP_659455 Q8IXT1 NOXIN_HUMAN nitric oxide-inducible gene protein 30 apoptosis|cell cycle arrest cytoplasm|nucleus ovary(2) 2 AAGTGCTTCTCTAGGATAATC 0.403 NA 26 110 0 0 0.00333 0 0 GRIA4 2893 broad.mit.edu 37 11 105781249 105781249 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:105781249C>A uc001pix.2 + 10 1693 c.1247C>A c.(1246-1248)ACA>AAA p.T416K GRIA4_uc001piu.1_Missense_Mutation_p.T416K|GRIA4_uc001piw.2_Missense_Mutation_p.T416K|GRIA4_uc009yxk.1_Missense_Mutation_p.T416K NM_000829 NP_000820 P48058 GRIA4_HUMAN glutamate receptor, ionotrophic, AMPA 4 isoform 416 Extracellular (Potential). glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) GAGAACAGAACAGTGGTTGTA 0.423 NA 8 53 0.000274275 0.000305179 0.004482 1 0 KDELC2 143888 broad.mit.edu 37 11 108352829 108352829 + Missense_Mutation SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:108352829T>C uc001pkj.2 - 4 871 c.805A>G c.(805-807)AGA>GGA p.R269G KDELC2_uc001pki.2_Missense_Mutation_p.R213G NM_153705 NP_714916 Q7Z4H8 KDEL2_HUMAN KDEL (Lys-Asp-Glu-Leu) containing 2 precursor 269 endoplasmic reticulum lumen ovary(1) 1 all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14) ACAACATCTCTTGAATCCAGA 0.448 NA 11 196 0 0 0.001368 0 0 ZC3H12C 85463 broad.mit.edu 37 11 110023681 110023681 + Nonsense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:110023681A>T uc009yxw.2 + 3 862 c.811A>T c.(811-813)AAA>TAA p.K271* ZC3H12C_uc010rwc.1_Nonsense_Mutation_p.K272*|ZC3H12C_uc010rwd.1_Nonsense_Mutation_p.K272*|ZC3H12C_uc001pkr.3_Nonsense_Mutation_p.K240*|ZC3H12C_uc001pkq.2_Nonsense_Mutation_p.K240* NM_033390 NP_203748 Q9C0D7 ZC12C_HUMAN zinc finger CCCH-type containing 12C 271 endonuclease activity|nucleic acid binding|zinc ion binding 0 all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279) CAGAGGAATAAAATTGGCAGT 0.363 NA 10 31 0 0 0.008291 0 0 RDX 5962 broad.mit.edu 37 11 110106875 110106875 + Silent SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:110106875T>A uc001pku.2 - 12 1603 c.1293A>T c.(1291-1293)CTA>CTT p.L431L RDX_uc009yxx.1_RNA|RDX_uc009yxy.2_Silent_p.L431L|RDX_uc009yxz.2_Silent_p.L84L|RDX_uc009yya.2_Intron|RDX_uc001pks.2_5'UTR|RDX_uc001pkt.2_Silent_p.L85L|RDX_uc010rwe.1_Silent_p.L295L NM_002906 NP_002897 P35241 RADI_HUMAN radixin 431 Glu-rich. actin filament capping cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane actin binding 0 all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248) TGGCTTCCTCTAGAAGTGCAA 0.313 Esophageal Squamous(55;25 1062 11040 28755 44273) NA 13 169 0 0 0.00499 0 0 FAM55A 120400 broad.mit.edu 37 11 114401032 114401032 + Missense_Mutation SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:114401032T>C uc001ppa.2 - 3 689 c.272A>G c.(271-273)TAT>TGT p.Y91C FAM55A_uc010rxd.1_Translation_Start_Site|FAM55A_uc001ppb.1_Missense_Mutation_p.Y233C NM_152315 NP_689528 Q8N323 FA55A_HUMAN hypothetical protein LOC120400 233 extracellular region 0 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;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106) GTCATCCAGATATTCACAGAG 0.423 NA 5 135 0 0 0.001168 0 0 ARHGEF12 23365 broad.mit.edu 37 11 120298883 120298883 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:120298883C>T uc001pxl.1 + 8 519 c.512C>T c.(511-513)CCC>CTC p.P171L ARHGEF12_uc009zat.2_Missense_Mutation_p.P152L|ARHGEF12_uc010rzn.1_Missense_Mutation_p.P68L|ARHGEF12_uc009zau.1_Missense_Mutation_p.P68L NM_015313 NP_056128 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 171 apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(2)|breast(2)|skin(2)|ovary(1) 7 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) CATATGTCTCCCATCATGACA 0.498 NA T MLL AML 5 347 0 0 0.000602 0 0 TBCEL 219899 broad.mit.edu 37 11 120924346 120924346 + Silent SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:120924346A>T uc009zay.2 + 4 438 c.360A>T c.(358-360)ACA>ACT p.T120T TBCEL_uc001pxo.2_Silent_p.T120T|TBCEL_uc001pxp.2_5'UTR|TBCEL_uc001pxq.2_Intron NM_001130047 NP_001123519 Q5QJ74 TBCEL_HUMAN tubulin folding cofactor E-like 120 LRR 2. cytoplasm|cytoskeleton skin(1) 1 Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121) TAGAAAGAACATGTGCTGGGT 0.433 NA 6 185 0 0 0.001168 0 0 SORL1 6653 broad.mit.edu 37 11 121429397 121429397 + Nonsense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:121429397A>T uc001pxx.2 + 20 2841 c.2761A>T c.(2761-2763)AAG>TAG p.K921* NM_003105 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor containing LDLR class 921 Extracellular (Potential).|LDL-receptor class B 3. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1) 15 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) TGAGGATGTGAAGTGGCCCAA 0.547 NA 6 245 0 0 0.00308 0 0 OR8D2 283160 broad.mit.edu 37 11 124189358 124189358 + Silent SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:124189358A>G uc010sah.1 - 1 736 c.736T>C c.(736-738)TTG>CTG p.L246L NM_001002918 NP_001002918 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, 246 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|pancreas(1) 3 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) CCCACAGCCAAGAGATGGGAG 0.438 NA 4 285 0 0 0.009096 0 0 OR8B2 26595 broad.mit.edu 37 11 124253151 124253151 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:124253151A>T uc010sai.1 - 1 89 c.89T>A c.(88-90)CTG>CAG p.L30Q OR8B2_uc001qab.3_RNA NM_001005468 NP_001005468 Q96RD0 OR8B2_HUMAN olfactory receptor, family 8, subfamily B, 30 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) CACTAGAAACAGGAAAAAGAG 0.418 NA 68 265 0 0 0.00361 0 0 CHEK1 1111 broad.mit.edu 37 11 125499354 125499354 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:125499354G>T uc009zbo.2 + 5 1315 c.423G>T c.(421-423)AGG>AGT p.R141S CHEK1_uc010sbh.1_Missense_Mutation_p.R157S|CHEK1_uc010sbi.1_Missense_Mutation_p.R141S|CHEK1_uc001qcf.3_Missense_Mutation_p.R141S|CHEK1_uc009zbp.2_Missense_Mutation_p.R141S|CHEK1_uc001qcg.3_Missense_Mutation_p.R141S|CHEK1_uc009zbq.2_Missense_Mutation_p.R141S|CHEK1_uc001qci.1_RNA NM_001114122 NP_001107594 O14757 CHK1_HUMAN checkpoint kinase 1 141 Protein kinase. cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence condensed nuclear chromosome|microtubule organizing center|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(3)|lung(2)|skin(1) 6 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748) TGGATGAAAGGGGTAAGTTTA 0.274 NA Other_conserved_DNA_damage_response_genes 38 50 2.54651e-27 4.15506e-27 0.006999 1 0 PRDM10 56980 broad.mit.edu 37 11 129785714 129785714 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:129785714C>G uc001qfm.2 - 17 2611 c.2379G>C c.(2377-2379)AAG>AAC p.K793N PRDM10_uc001qfj.2_Missense_Mutation_p.K707N|PRDM10_uc001qfk.2_Missense_Mutation_p.K703N|PRDM10_uc001qfl.2_Missense_Mutation_p.K707N|PRDM10_uc010sbx.1_Missense_Mutation_p.K703N|PRDM10_uc001qfn.2_Missense_Mutation_p.K789N|PRDM10_uc009zcs.1_5'UTR NM_020228 NP_064613 Q9NQV6 PRD10_HUMAN PR domain containing 10 isoform 1 793 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) CTGGGTGGTTCTTCAGAATGT 0.542 NA 20 225 0 0 0.007413 0 0 IQSEC3 440073 broad.mit.edu 37 12 266787 266787 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:266787C>A uc001qhw.1 + 4 1467 c.1461C>A c.(1459-1461)AAC>AAA p.N487K IQSEC3_uc001qhu.1_Missense_Mutation_p.N487K NM_015232 NP_056047 Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 790 SEC7. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|large_intestine(1)|skin(1) 4 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) TCCTCCTCAACACCGACATGT 0.582 NA 6 105 0.00116845 0.00127467 0.001168 1 0 KCNA1 3736 broad.mit.edu 37 12 5020837 5020837 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:5020837C>T uc001qnh.2 + 2 1398 c.293C>T c.(292-294)TCC>TTC p.S98F NM_000217 NP_000208 Q09470 KCNA1_HUMAN potassium voltage-gated channel subfamily A 98 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity ovary(1)|skin(1) 2 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TACTACCAGTCCGGCGGCCGC 0.602 NA 6 29 0 0 0.001368 0 0 SLC2A3 6515 broad.mit.edu 37 12 8085705 8085705 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:8085705C>A uc001qtr.2 - 3 409 c.147G>T c.(145-147)AAG>AAT p.K49N SLC2A3_uc001qts.2_Missense_Mutation_p.K49N NM_006931 NP_008862 P11169 GTR3_HUMAN solute carrier family 2 (facilitated glucose 49 Extracellular (Potential). carbohydrate metabolic process|water-soluble vitamin metabolic process integral to membrane|plasma membrane D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity ovary(3)|pancreas(1) 4 Kidney(36;0.0866) GGGCATTTCCCTTGTCCGTCA 0.463 Colon(96;424 1461 14416 20933 23688) NA OREG0021656 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 62 1.7881e-09 2.3708e-09 0.008361 1 0 TAS2R46 259292 broad.mit.edu 37 12 11214459 11214459 + Missense_Mutation SNP A A C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:11214459A>C uc001qzp.1 - 1 435 c.435T>G c.(433-435)TTT>TTG p.F145L PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron NM_176887 NP_795368 P59540 T2R46_HUMAN taste receptor, type 2, member 46 145 Helical; Name=4; (Potential). sensory perception of taste cilium membrane|integral to membrane G-protein coupled receptor activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(49;0.0344) BRCA - Breast invasive adenocarcinoma(232;0.196) TGTTTATCACAAAAAGATGAC 0.348 NA 4 91 0 0 0.001984 0 0 ABCC9 10060 broad.mit.edu 37 12 21970121 21970121 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:21970121C>A uc001rfi.1 - 31 3912 c.3892G>T c.(3892-3894)GAT>TAT p.D1298Y ABCC9_uc001rfh.2_Missense_Mutation_p.D1298Y|ABCC9_uc001rfj.1_Missense_Mutation_p.D1262Y NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 1298 Cytoplasmic (Potential). defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AGAGCAATACCCATTGTGCCT 0.398 NA 47 91 1.30916e-28 2.1435e-28 0.00361 1 0 LRMP 4033 broad.mit.edu 37 12 25243005 25243005 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:25243005A>T uc001rgh.2 + 13 1514 c.480A>T c.(478-480)AGA>AGT p.R160S LRMP_uc010sja.1_Missense_Mutation_p.R160S|LRMP_uc010sjb.1_Missense_Mutation_p.R107S|LRMP_uc001rgi.2_RNA|LRMP_uc010sjc.1_Missense_Mutation_p.R160S|LRMP_uc010sjd.1_Missense_Mutation_p.R107S NM_006152 NP_006143 Q12912 LRMP_HUMAN lymphoid-restricted membrane protein 216 Cytoplasmic (Potential). vesicle fusion|vesicle targeting endoplasmic reticulum membrane|integral to plasma membrane ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11) AATTTCTCAGATTATCTTTGG 0.393 NA 27 182 0 0 0.002836 0 0 PPFIBP1 8496 broad.mit.edu 37 12 27835424 27835424 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:27835424G>T uc001ric.1 + 22 2546 c.2169G>T c.(2167-2169)TGG>TGT p.W723C PPFIBP1_uc010sjr.1_Missense_Mutation_p.W554C|PPFIBP1_uc001rib.1_Missense_Mutation_p.W717C|PPFIBP1_uc001ria.2_Missense_Mutation_p.W692C|PPFIBP1_uc001rid.1_Missense_Mutation_p.W570C|PPFIBP1_uc001rif.1_Missense_Mutation_p.W230C NM_003622 NP_003613 Q86W92 LIPB1_HUMAN PTPRF interacting protein binding protein 1 723 SAM 2. cell adhesion plasma membrane protein binding PPFIBP1/ALK(3) soft_tissue(3)|kidney(1)|skin(1) 5 Lung SC(9;0.0873) ATTTCAACTGGGTCACTAGTA 0.363 NA 49 120 1.86633e-21 2.92928e-21 0.00361 1 0 C12orf35 55196 broad.mit.edu 37 12 32137134 32137134 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:32137134A>G uc001rks.2 + 4 3659 c.3245A>G c.(3244-3246)TAC>TGC p.Y1082C C12orf35_uc001rkt.2_5'Flank NM_018169 NP_060639 Q9HCM1 CL035_HUMAN hypothetical protein LOC55196 1082 ovary(1)|skin(1) 2 all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0114) CAAACTACATACCAGACCTCA 0.403 NA 5 216 0 0 0.001168 0 0 KIF21A 55605 broad.mit.edu 37 12 39752118 39752118 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:39752118T>A uc001rly.2 - 8 1223 c.1077A>T c.(1075-1077)TTA>TTT p.L359F KIF21A_uc001rlx.2_Missense_Mutation_p.L359F|KIF21A_uc001rlz.2_Missense_Mutation_p.L359F|KIF21A_uc010skl.1_Missense_Mutation_p.L359F|KIF21A_uc001rma.1_Missense_Mutation_p.L367F NM_017641 NP_060111 Q7Z4S6 KI21A_HUMAN kinesin family member 21A 359 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(4)|pancreas(1)|lung(1)|skin(1) 7 Lung NSC(34;0.179)|all_lung(34;0.213) TCAGGGTGTTTAACGTTTCCA 0.393 NA 48 357 0 0 0.00361 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43826240 43826240 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:43826240G>T uc010skx.1 - 21 2963 c.2963C>A c.(2962-2964)TCT>TAT p.S988Y ADAMTS20_uc001rno.1_Missense_Mutation_p.S142Y|ADAMTS20_uc001rnp.1_Missense_Mutation_p.S142Y NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 988 TSP type-1 4. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) AGATTCTCGAGACCTTTCCCC 0.373 NA 12 78 2.27111e-07 2.78527e-07 0.001368 1 0 PUS7L 83448 broad.mit.edu 37 12 44130285 44130285 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:44130285C>G uc001rnq.3 - 7 2113 c.1624G>C c.(1624-1626)GCA>CCA p.A542P PUS7L_uc001rnr.3_Missense_Mutation_p.A542P|PUS7L_uc001rns.3_Missense_Mutation_p.A542P|PUS7L_uc009zkb.2_Missense_Mutation_p.A229P NM_001098615 NP_001092085 Q9H0K6 PUS7L_HUMAN pseudouridylate synthase 7 homolog (S. 542 TRUD. pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding pancreas(1) 1 all_cancers(12;0.00027) Lung NSC(34;0.114)|all_lung(34;0.24) GBM - Glioblastoma multiforme(48;0.0402) TAAGATACTGCCTCATTCCAA 0.428 NA 8 183 0 0 0.00308 0 0 PUS7L 83448 broad.mit.edu 37 12 44136349 44136349 + Missense_Mutation SNP A A C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:44136349A>C uc001rnq.3 - 5 1762 c.1273T>G c.(1273-1275)TTT>GTT p.F425V PUS7L_uc001rnr.3_Missense_Mutation_p.F425V|PUS7L_uc001rns.3_Missense_Mutation_p.F425V|PUS7L_uc009zkb.2_Missense_Mutation_p.F112V NM_001098615 NP_001092085 Q9H0K6 PUS7L_HUMAN pseudouridylate synthase 7 homolog (S. 425 TRUD. pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding pancreas(1) 1 all_cancers(12;0.00027) Lung NSC(34;0.114)|all_lung(34;0.24) GBM - Glioblastoma multiforme(48;0.0402) TAATTCACAAAGCCTTTTTTC 0.294 NA 6 132 0 0 0.001168 0 0 CCDC65 85478 broad.mit.edu 37 12 49315194 49315195 + Missense_Mutation DNP CA CA AT TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 CA CA - - CA CA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:49315194_49315195CA>AT uc001rso.2 + 8 1650_1651 c.1423_1424CA>AT c.(1423-1425)CAT>ATT p.H475I NM_033124 NP_149115 Q8IXS2 CCD65_HUMAN coiled-coil domain containing 65 475 ovary(1)|skin(1) 2 ACGTATAGCCCATCCAGGTGAT 0.426 NA 12 189 0 0 0.004672 0 0 KRT75 9119 broad.mit.edu 37 12 52818459 52818459 + Missense_Mutation SNP T T G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:52818459T>G uc001saj.2 - 9 1520 c.1498A>C c.(1498-1500)AGC>CGC p.S500R NM_004693 NP_004684 O95678 K2C75_HUMAN keratin 75 500 Tail. keratin filament structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(357;0.192) GAGTAGCCGCTGCCCCCACCG 0.632 NA 4 65 0 0 0.001168 0 0 KRT75 9119 broad.mit.edu 37 12 52822519 52822519 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:52822519C>G uc001saj.2 - 6 1066 c.1044G>C c.(1042-1044)GAG>GAC p.E348D NM_004693 NP_004684 O95678 K2C75_HUMAN keratin 75 348 Coil 2.|Rod. keratin filament structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(357;0.192) TGACCTGCAGCTCCTCGTACT 0.557 NA 5 133 0 0 0.001168 0 0 AMHR2 269 broad.mit.edu 37 12 53819601 53819601 + Silent SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:53819601A>G uc001scx.1 + 6 828 c.750A>G c.(748-750)CCA>CCG p.P250P AMHR2_uc009zmy.1_Silent_p.P250P NM_020547 NP_065434 Q16671 AMHR2_HUMAN anti-Mullerian hormone receptor, type II isoform 250 Cytoplasmic (Potential).|Protein kinase. Mullerian duct regression ATP binding|hormone binding|metal ion binding ovary(1)|skin(1) 2 Adenosine triphosphate(DB00171) ACGAACTTCCAGGCCTACAGC 0.597 NA Persistant_Mullerian_Duct_Syndrome_(type_I_and_II) 3 79 0 0 0.004672 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54925124 54925124 + Nonsense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:54925124C>T uc001sgc.3 + 23 2666 c.2587C>T c.(2587-2589)CAG>TAG p.Q863* NCKAP1L_uc010sox.1_Nonsense_Mutation_p.Q405*|NCKAP1L_uc010soy.1_Nonsense_Mutation_p.Q813* NM_005337 NP_005328 P55160 NCKPL_HUMAN NCK-associated protein 1-like 863 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity ovary(3)|central_nervous_system(1) 4 TGTGACCTCTCAGATTGTGGA 0.512 NA 8 291 0 0 0.00308 0 0 OR9K2 441639 broad.mit.edu 37 12 55524459 55524459 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:55524459C>T uc010spe.1 + 1 907 c.907C>T c.(907-909)CTA>TTA p.L303L NM_001005243 NP_001005243 Q8NGE7 OR9K2_HUMAN olfactory receptor, family 9, subfamily K, 303 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|pancreas(1) 2 ATGTTACTCCCTAGTCACTCC 0.393 NA 45 132 0 0 0.00361 0 0 OR6C1 390321 broad.mit.edu 37 12 55715313 55715313 + Silent SNP A A C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:55715313A>C uc010spi.1 + 1 930 c.930A>C c.(928-930)ACA>ACC p.T310T NM_001005182 NP_001005182 Q96RD1 OR6C1_HUMAN olfactory receptor, family 6, subfamily C, 310 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 TATTTTTCACAAGCACATGAA 0.408 NA 30 213 0 0 0.009535 0 0 METTL7B 196410 broad.mit.edu 37 12 56075950 56075950 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:56075950A>G uc010spr.1 + 1 621 c.412A>G c.(412-414)ATG>GTG p.M138V NM_152637 NP_689850 Q6UX53 MET7B_HUMAN methyltransferase like 7B precursor 138 methyltransferase activity 0 TGATGGCTCCATGGATGTGGT 0.577 NA 11 50 0 0 0.001368 0 0 SILV 6490 broad.mit.edu 37 12 56355437 56355437 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:56355437C>A uc001sip.2 - 2 187 c.156G>T c.(154-156)TGG>TGT p.W52C SILV_uc001siq.2_Missense_Mutation_p.W52C|SILV_uc010spx.1_Intron|SILV_uc001sir.2_Missense_Mutation_p.W52C NM_006928 NP_008859 P40967 PMEL_HUMAN silver homolog 52 melanin biosynthetic process|melanosome organization endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane protein binding 0 GGGCTTCTGTCCACTCTGGAT 0.522 NA 28 178 4.02929e-09 5.27592e-09 0.002096 1 0 ARHGAP9 64333 broad.mit.edu 37 12 57870424 57870424 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:57870424T>A uc001sod.2 - 10 1380 c.1187A>T c.(1186-1188)AAG>ATG p.K396M ARHGAP9_uc001sny.2_5'Flank|ARHGAP9_uc001snz.2_Missense_Mutation_p.K141M|ARHGAP9_uc001soa.2_Translation_Start_Site|ARHGAP9_uc001sob.2_Missense_Mutation_p.K325M|ARHGAP9_uc001soc.2_Missense_Mutation_p.K325M|ARHGAP9_uc001soe.1_Missense_Mutation_p.K404M NM_032496 NP_115885 Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 isoform 1 325 PH. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding lung(1) 1 GBM - Glioblastoma multiforme(3;3.37e-34) CAGACCCGACTTTTCCACCTC 0.582 NA 5 187 0 0 0.000602 0 0 XPOT 11260 broad.mit.edu 37 12 64814133 64814133 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:64814133G>T uc001ssb.2 + 8 1101 c.675G>T c.(673-675)AGG>AGT p.R225S XPOT_uc009zqm.1_Missense_Mutation_p.R135S NM_007235 NP_009166 O43592 XPOT_HUMAN tRNA exportin 225 Necessary for interaction with Ran, nuclear localization and nuclear import. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding ovary(2) 2 GBM - Glioblastoma multiforme(28;0.0404) CCATTACCAGGTTTATAAATA 0.308 NA 39 96 5.43694e-19 8.29986e-19 0.005524 1 0 GRIP1 23426 broad.mit.edu 37 12 66814542 66814542 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:66814542G>T uc001stk.2 - 14 1881 c.1640C>A c.(1639-1641)CCC>CAC p.P547H GRIP1_uc010sta.1_Missense_Mutation_p.P491H|GRIP1_uc001stj.2_Missense_Mutation_p.P329H|GRIP1_uc001stl.1_Missense_Mutation_p.P439H|GRIP1_uc001stm.2_Missense_Mutation_p.P547H NM_021150 NP_066973 Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 599 PDZ 5. androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity ovary(2) 2 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) AATGACGAGGGGGTCTCCTGG 0.378 NA 70 157 9.42754e-34 1.55162e-33 0.00361 1 0 TRHDE 29953 broad.mit.edu 37 12 72667204 72667204 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:72667204G>T uc001sxa.2 + 1 676 c.646G>T c.(646-648)GTC>TTC p.V216F LOC283392_uc010stv.1_5'UTR NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 216 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 GCAAACCCAGGTCTTAGTGGT 0.567 NA 11 120 2.80697e-09 3.69072e-09 0.000978 1 0 CAPS2 84698 broad.mit.edu 37 12 75692486 75692486 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:75692486C>A uc001sxk.3 - 12 1279 c.1082G>T c.(1081-1083)CGA>CTA p.R361L CAPS2_uc001sxm.3_Missense_Mutation_p.R129L|CAPS2_uc009zsa.2_Intron|CAPS2_uc001sxi.3_Missense_Mutation_p.R97L|CAPS2_uc001sxj.3_Missense_Mutation_p.R272L|CAPS2_uc001sxl.3_Missense_Mutation_p.R342L NM_032606 NP_115995 Q9BXY5 CAYP2_HUMAN calcyphosine 2 361 calcium ion binding ovary(2) 2 ATCACCAAGTCGGTATTGTTT 0.378 NA 25 34 4.7796e-09 6.23255e-09 0.004656 1 0 NAV3 89795 broad.mit.edu 37 12 78444710 78444710 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:78444710G>C uc001syp.2 + 11 2472 c.2299G>C c.(2299-2301)GGT>CGT p.G767R NAV3_uc001syo.2_Missense_Mutation_p.G767R|NAV3_uc010sub.1_Missense_Mutation_p.G267R NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 767 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 TCCTCGCAGTGGTACCAGTCG 0.592 NA HNSCC(70;0.22) 12 65 0 0 0.001368 0 0 ELK3 2004 broad.mit.edu 37 12 96641401 96641401 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:96641401G>T uc001teo.1 + 3 1170 c.891G>T c.(889-891)TTG>TTT p.L297F NM_005230 NP_005221 P41970 ELK3_HUMAN ELK3 protein 297 negative regulation of transcription, DNA-dependent|signal transduction mitochondrion protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1) 1 all_cancers(2;0.00173) CCAAAGGCTTGGAAATCTCAG 0.617 NA 11 85 5.16669e-11 7.16085e-11 0.000978 1 0 APAF1 317 broad.mit.edu 37 12 99074148 99074148 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:99074148A>G uc001tfz.2 + 14 2591 c.2014A>G c.(2014-2016)ATA>GTA p.I672V APAF1_uc001tfy.2_Missense_Mutation_p.I661V|APAF1_uc001tga.2_Missense_Mutation_p.I661V|APAF1_uc001tgb.2_Missense_Mutation_p.I672V|APAF1_uc001tgc.2_Intron|APAF1_uc009zto.2_Missense_Mutation_p.I81V NM_181861 NP_863651 O14727 APAF_HUMAN apoptotic peptidase activating factor 1 isoform 672 WD 2. activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development cytosol|Golgi apparatus|nucleus ATP binding|caspase activator activity|protein binding ovary(2)|lung(1) 3 Adenosine triphosphate(DB00171) TGACAGATTTATAGCAACCTG 0.373 NA 17 27 0 0 0.010504 0 0 SLC17A8 246213 broad.mit.edu 37 12 100774686 100774686 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:100774686G>A uc010svi.1 + 2 622 c.309G>A c.(307-309)ATG>ATA p.M103I SLC17A8_uc009ztx.2_Missense_Mutation_p.M103I NM_139319 NP_647480 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (sodium-dependent 103 Vesicular (Potential). neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3) 3 TTGTGGAAATGGTCAACAATA 0.413 NA 22 149 0 0 0.00333 0 0 NR1H4 9971 broad.mit.edu 37 12 100928738 100928738 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:100928738C>A uc001tht.1 + 4 727 c.699C>A c.(697-699)ACC>ACA p.T233T NR1H4_uc001thp.1_Silent_p.T219T|NR1H4_uc001thq.1_Silent_p.T223T|NR1H4_uc010svj.1_RNA|NR1H4_uc001thr.1_Silent_p.T223T|NR1H4_uc010svk.1_Silent_p.T172T|NR1H4_uc001ths.1_Silent_p.T229T NM_005123 NP_005114 Q96RI1 NR1H4_HUMAN nuclear receptor subfamily 1, group H, member 4 233 bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1)|lung(1)|skin(1) 3 CAGATCAGACCGTGAATGAAG 0.428 NA 30 56 3.11337e-16 4.648e-16 0.002836 1 0 POLR3B 55703 broad.mit.edu 37 12 106890686 106890686 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:106890686G>A uc001tlp.2 + 25 3196 c.2974G>A c.(2974-2976)GGC>AGC p.G992S POLR3B_uc001tlq.2_Missense_Mutation_p.G934S NM_018082 NP_060552 Q9NW08 RPC2_HUMAN DNA-directed RNA polymerase III B isoform 1 992 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding ovary(1)|central_nervous_system(1) 2 TGTTACATCCGGCATCACAGG 0.428 NA 21 153 0 0 0.001882 0 0 CRY1 1407 broad.mit.edu 37 12 107393382 107393382 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:107393382C>A uc001tmi.3 - 7 1943 c.1084G>T c.(1084-1086)GCT>TCT p.A362S NM_004075 NP_004066 Q16526 CRY1_HUMAN cryptochrome 1 (photolyase-like) 362 FAD-binding. DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding ovary(3) 3 AGGAAGCAAGCAACTGCATGC 0.483 NA 23 85 6.12954e-19 9.34212e-19 0.004656 1 0 BTBD11 121551 broad.mit.edu 37 12 108051444 108051444 + Silent SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:108051444C>G uc001tmk.1 + 17 3785 c.3264C>G c.(3262-3264)GCC>GCG p.A1088A BTBD11_uc001tml.1_Silent_p.A625A|BTBD11_uc001tmm.1_Silent_p.A167A NM_001018072 NP_001018082 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 isoform a 1088 integral to membrane DNA binding skin(2)|ovary(1) 3 GGACGTTGGCCATCAGAATTC 0.512 NA 5 111 0 0 0.001168 0 0 ACACB 32 broad.mit.edu 37 12 109637270 109637270 + Silent SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:109637270G>T uc001tob.2 + 18 2810 c.2691G>T c.(2689-2691)CTG>CTT p.L897L ACACB_uc001toc.2_Silent_p.L897L NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 897 Biotinyl-binding. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) CTACAGTCCTGAGATCCCCCT 0.562 NA 10 118 0.00244969 0.00263301 0.00245 1 0 C12orf51 283450 broad.mit.edu 37 12 112665893 112665893 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:112665893C>A uc009zwc.2 - 36 5606 c.5588G>T c.(5587-5589)AGA>ATA p.R1863I C12orf51_uc001ttr.1_Missense_Mutation_p.R38I NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 GGGTACTCACCTTGTCCTTAT 0.532 NA 44 88 1.51926e-22 2.40443e-22 0.00361 1 0 NCOR2 9612 broad.mit.edu 37 12 124862883 124862883 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:124862883C>A uc010tba.1 - 18 2184 c.2067G>T c.(2065-2067)GCG>GCT p.A689A NCOR2_uc010tay.1_Silent_p.A689A|NCOR2_uc010taz.1_Silent_p.A689A|NCOR2_uc010tbb.1_Silent_p.A689A|NCOR2_uc010tbc.1_Silent_p.A688A|NCOR2_uc001ugj.1_Silent_p.A689A NM_001077261 NP_001070729 Q9Y618 NCOR2_HUMAN nuclear receptor co-repressor 2 isoform 2 689 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity skin(3)|ovary(1) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) CCTCGCTGGCCGCCGCCGGCG 0.657 NA 7 30 0.00621372 0.00658168 0.006214 1 0 TMEM132D 121256 broad.mit.edu 37 12 129559152 129559152 + Silent SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:129559152C>G uc009zyl.1 - 9 2896 c.2568G>C c.(2566-2568)ACG>ACC p.T856T TMEM132D_uc001uia.2_Silent_p.T394T NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 856 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) ACCTGTCTGTCGTGGTGCCCC 0.552 NA 10 84 0 0 0.008291 0 0 CHFR 55743 broad.mit.edu 37 12 133447364 133447364 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:133447364C>A uc001ulf.2 - 5 433 c.349G>T c.(349-351)GCA>TCA p.A117S CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Missense_Mutation_p.A117S|CHFR_uc010tbs.1_Missense_Mutation_p.A117S|CHFR_uc001uld.2_Missense_Mutation_p.A117S|CHFR_uc010tbt.1_Intron NM_001161344 NP_001154816 Q96EP1 CHFR_HUMAN checkpoint with forkhead and ring finger domains 117 cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination PML body nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding skin(1) 1 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.00552)|all_epithelial(31;0.226) OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05) TAGAGGTATGCCACGTCTAAA 0.388 NA 13 118 1.5842e-08 2.04052e-08 0.001855 1 0 SHISA2 387914 broad.mit.edu 37 13 26620787 26620787 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr13:26620787G>A uc001uqm.1 - 2 837 c.752C>T c.(751-753)ACG>ATG p.T251M NM_001007538 NP_001007539 Q6UWI4 SHSA2_HUMAN shisa homolog 2 precursor 251 Cytoplasmic (Potential). multicellular organismal development endoplasmic reticulum membrane|integral to membrane ovary(1)|central_nervous_system(1) 2 GTGCTGCACCGTGTACCCCAC 0.577 NA 38 40 0 0 0.007835 0 0 FAM10A4 145165 broad.mit.edu 37 13 50746537 50746537 + Nonsense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr13:50746537G>T uc001vej.2 + 1 384 c.313G>T c.(313-315)GAG>TAG p.E105* DLEU1_uc010adl.1_Intron|DLEU1_uc001vee.1_Intron|DLEU1_uc010adm.1_Intron|DLEU1_uc010adn.1_Intron|DLEU1_uc001vef.1_Intron|DLEU1_uc001veg.1_Intron|DLEU1_uc010tgn.1_Intron|DLEU1_uc001vei.1_Intron|DLEU1_uc010ado.1_Intron|DLEU1_uc010adp.1_Intron NR_002183 SubName: Full=ST13 protein; 0 GATAACAGAGGAGGTGATGGA 0.408 NA 16 27 3.62473e-10 4.91595e-10 0.001882 1 0 NEK3 4752 broad.mit.edu 37 13 52709865 52709865 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr13:52709865C>A uc001vgi.2 - 16 1544 c.1309G>T c.(1309-1311)GGT>TGT p.G437C NEK3_uc001vgg.2_Missense_Mutation_p.G414C|NEK3_uc001vgh.2_Missense_Mutation_p.G441C|NEK3_uc010tgx.1_RNA|NEK3_uc010tgy.1_Missense_Mutation_p.G420C NM_152720 NP_689933 P51956 NEK3_HUMAN NIMA-related kinase 3 isoform a 437 cell division|mitosis nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(1)|stomach(1) 2 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.81e-08) CATGAATTACCTGGTCTATAT 0.294 NA 7 30 2.0095e-06 2.40531e-06 0.001984 1 0 PCDH17 27253 broad.mit.edu 37 13 58207531 58207531 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr13:58207531G>T uc001vhq.1 + 1 1743 c.851G>T c.(850-852)AGC>ATC p.S284I PCDH17_uc010aec.1_Missense_Mutation_p.S284I NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 284 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) TCTTTCAGCAGCTACGTGCCT 0.582 Melanoma(72;952 1291 1619 12849 33676) NA 8 58 0.000157383 0.000176986 0.00308 1 0 ABCC4 10257 broad.mit.edu 37 13 95829973 95829973 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr13:95829973T>A uc001vmd.3 - 13 1834 c.1715A>T c.(1714-1716)CAC>CTC p.H572L ABCC4_uc010afk.2_Missense_Mutation_p.H572L|ABCC4_uc001vme.2_Missense_Mutation_p.H572L|ABCC4_uc010tih.1_Missense_Mutation_p.H497L|ABCC4_uc001vmf.2_Missense_Mutation_p.H529L|ABCC4_uc010afl.1_Missense_Mutation_p.H529L|ABCC4_uc010afm.1_Missense_Mutation_p.H585L NM_005845 NP_005836 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C, member 4 572 ABC transporter 1. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity central_nervous_system(3)|skin(1) 4 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) TTCGAACAAGTGTCTGCTAAC 0.443 NA 13 37 0 0 0.001855 0 0 DZIP1 22873 broad.mit.edu 37 13 96293708 96293708 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr13:96293708C>T uc001vmk.2 - 5 1290 c.438G>A c.(436-438)GAG>GAA p.E146E DZIP1_uc001vml.2_Silent_p.E146E|DZIP1_uc001vmn.2_Silent_p.E135E NM_198968 NP_945319 Q86YF9 DZIP1_HUMAN DAZ interacting protein 1 isoform 2 146 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding ovary(2) 2 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) GCAGCCGCTCCTCCAGGGTGT 0.617 NA 10 22 0 0 0.008291 0 0 NALCN 259232 broad.mit.edu 37 13 101710333 101710333 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr13:101710333C>A uc001vox.1 - 43 5170 c.4981G>T c.(4981-4983)GGG>TGG p.G1661W NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 1661 Cytoplasmic (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TGGGGTTTCCCTGCGTCGGCT 0.567 NA 19 61 8.00594e-06 9.4516e-06 0.007413 1 0 P704P 641455 broad.mit.edu 37 14 20010235 20010235 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr14:20010235A>G uc001vwc.3 - 5 975 c.923T>C c.(922-924)GTT>GCT p.V308A P704P_uc001vwb.3_RNA|uc001vwd.2_RNA NM_001145442 NP_001138914 A6NI47 POTEM_HUMAN prostate-specific P704P 308 ANK 5. 0 AAGTATGAGAACAGTTCTAAA 0.368 NA 3 116 0 0 0.004672 0 0 OR4Q3 441669 broad.mit.edu 37 14 20216282 20216282 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr14:20216282G>A uc010tkt.1 + 1 696 c.696G>A c.(694-696)CAG>CAA p.Q232Q NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, 232 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ACTTCTGCCAGGGCCAGAACA 0.488 NA 19 202 0 0 0.008871 0 0 OR4K1 79544 broad.mit.edu 37 14 20403987 20403987 + Silent SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr14:20403987T>C uc001vwj.1 + 1 162 c.162T>C c.(160-162)CAT>CAC p.H54H NM_001004063 NP_001004063 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, 54 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) TTGACTCCCATTTGAACTCTC 0.363 NA 34 428 0 0 0.002836 0 0 OR4N5 390437 broad.mit.edu 37 14 20612039 20612039 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr14:20612039A>T uc010tla.1 + 1 145 c.145A>T c.(145-147)ATA>TTA p.I49L NM_001004724 NP_001004724 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, 49 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) CATTTTCACCATAAAGTCAGA 0.463 NA 111 250 0 0 0.00361 0 0 OR4N5 390437 broad.mit.edu 37 14 20612550 20612550 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr14:20612550C>A uc010tla.1 + 1 656 c.656C>A c.(655-657)GCA>GAA p.A219E NM_001004724 NP_001004724 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, 219 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) GCCTCCTATGCAGTCATCCTC 0.502 NA 7 156 2.0095e-06 2.40531e-06 0.001984 1 0 OR11G2 390439 broad.mit.edu 37 14 20665955 20665955 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr14:20665955C>A uc010tlb.1 + 1 461 c.461C>A c.(460-462)GCA>GAA p.A154E NM_001005503 NP_001005503 Q8NGC1 O11G2_HUMAN olfactory receptor, family 11, subfamily G, 154 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(95;0.00108) Epithelial(56;9.76e-07)|all cancers(55;5.61e-06) GBM - Glioblastoma multiforme(265;0.0144) TTTTTCCTGGCAGTTATGGCA 0.478 NA 16 50 1.15088e-07 1.42432e-07 0.004007 1 0 TEP1 7011 broad.mit.edu 37 14 20852618 20852618 + Missense_Mutation SNP C C A rs147687706 byFrequency TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr14:20852618C>A uc001vxe.2 - 23 3311 c.3271G>T c.(3271-3273)GGG>TGG p.G1091W TEP1_uc010ahk.2_Missense_Mutation_p.G441W|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.G983W|TEP1_uc010tlh.1_5'Flank NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 1091 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding ovary(5) 5 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) TCCTCCAGCCCGCCAACATAG 0.592 NA 8 237 0.00621372 0.00658168 0.006214 1 0 RNASE11 122651 broad.mit.edu 37 14 21052309 21052309 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr14:21052309C>G uc010ahv.2 - 2 510 c.325G>C c.(325-327)GAA>CAA p.E109Q RNASE11_uc010ahx.2_Missense_Mutation_p.E109Q|RNASE11_uc010ahw.2_Missense_Mutation_p.E109Q|RNASE11_uc001vxs.2_Missense_Mutation_p.E109Q NM_145250 NP_660293 Q8TAA1 RNS11_HUMAN ribonuclease, RNase A family, 11 (non-active) 109 extracellular region nucleic acid binding|pancreatic ribonuclease activity ovary(3) 3 all_cancers(95;0.00238) all_lung(585;0.235) Epithelial(56;1.85e-06)|all cancers(55;1.46e-05) GBM - Glioblastoma multiforme(265;0.0139) CCGTTTGCTTCTGAAACTTTT 0.468 NA 24 149 0 0 0.00278 0 0 RNASE11 122651 broad.mit.edu 37 14 21052324 21052324 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr14:21052324A>T uc010ahv.2 - 2 495 c.310T>A c.(310-312)TGG>AGG p.W104R RNASE11_uc010ahx.2_Missense_Mutation_p.W104R|RNASE11_uc010ahw.2_Missense_Mutation_p.W104R|RNASE11_uc001vxs.2_Missense_Mutation_p.W104R NM_145250 NP_660293 Q8TAA1 RNS11_HUMAN ribonuclease, RNase A family, 11 (non-active) 104 extracellular region nucleic acid binding|pancreatic ribonuclease activity ovary(3) 3 all_cancers(95;0.00238) all_lung(585;0.235) Epithelial(56;1.85e-06)|all cancers(55;1.46e-05) GBM - Glioblastoma multiforme(265;0.0139) ACTTTTCTCCAGACTGTCATG 0.468 NA 29 177 0 0 0.009535 0 0 Unknown 0 broad.mit.edu 37 14 23019583 23019583 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr14:23019583G>T uc001wbw.2 + 6 816 c.807G>T c.(805-807)ATG>ATT p.M269I uc001wcx.3_RNA|uc001wdv.3_Missense_Mutation_p.M195I|uc001wec.2_Missense_Mutation_p.M154I|uc001wee.3_Missense_Mutation_p.M83I|uc001weg.2_Missense_Mutation_p.M83I|uc001wei.2_Missense_Mutation_p.M83I|uc001wej.2_Missense_Mutation_p.M83I|uc001wek.2_Missense_Mutation_p.M140I|uc001wel.2_Missense_Mutation_p.M83I|uc001wem.3_Missense_Mutation_p.M83I|uc001weo.2_Missense_Mutation_p.M83I|uc001wep.2_Missense_Mutation_p.M83I|uc001weq.2_Missense_Mutation_p.M147I|uc001wer.2_RNA|uc001wet.2_Missense_Mutation_p.M83I|uc001weu.2_Missense_Mutation_p.M83I|uc001wev.2_Missense_Mutation_p.M148I|uc001wew.2_Missense_Mutation_p.M83I|uc010ajx.1_Missense_Mutation_p.M83I|uc001wfd.1_Missense_Mutation_p.M83I|uc001wfe.2_Missense_Mutation_p.M155I|uc001wfh.1_Missense_Mutation_p.M146I|uc001wfk.2_Missense_Mutation_p.M83I|uc010ajy.1_Missense_Mutation_p.M83I|uc001wfn.2_Missense_Mutation_p.M83I|uc001wfp.2_Missense_Mutation_p.M83I|uc001wfw.1_Missense_Mutation_p.M83I|uc001wfx.2_Missense_Mutation_p.M83I|uc001wgd.2_Missense_Mutation_p.M140I|uc001wge.3_Missense_Mutation_p.M83I|uc010tmw.1_Missense_Mutation_p.M83I|uc010tmx.1_Missense_Mutation_p.M83I|uc001wgh.2_Missense_Mutation_p.M83I|uc001wgj.1_Missense_Mutation_p.M83I|uc001wgk.2_Missense_Mutation_p.M83I SubName: Full=Alpha-chain C region; Flags: Fragment; NA ATCTGCTCATGACGCTGCGGC 0.542 NA 4 66 0.00024832 0.000278259 0.009096 1 0 CEBPE 1053 broad.mit.edu 37 14 23586879 23586879 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr14:23586879G>T uc001wiv.1 - 2 837 c.663C>A c.(661-663)AGC>AGA p.S221R NM_001805 NP_001796 Q15744 CEBPE_HUMAN CCAAT/enhancer binding protein epsilon 221 Basic motif. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.0064) CCTTGTCTCGGCTCTTGCGCA 0.627 NSCLC(63;1230 1818 14565 22565) NA 14 69 4.93089e-13 7.0933e-13 0.00245 1 0 MYH7 4625 broad.mit.edu 37 14 23900116 23900116 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr14:23900116G>T uc001wjx.2 - 10 995 c.889C>A c.(889-891)CTG>ATG p.L297M NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 297 Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TCACCCAGCAGCTCAGGCTTT 0.488 NA 31 199 3.57733e-08 4.54599e-08 0.009535 1 0 FSCB 84075 broad.mit.edu 37 14 44974853 44974853 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr14:44974853C>T uc001wvn.2 - 1 1647 c.1338G>A c.(1336-1338)ATG>ATA p.M446I NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 446 cilium lung(3)|breast(3)|ovary(2)|central_nervous_system(1) 9 GBM - Glioblastoma multiforme(112;0.128) CAGGGGTCTCCATAGCTGTTG 0.493 NA 13 25 0 0 0.001855 0 0 C14orf37 145407 broad.mit.edu 37 14 58604955 58604955 + Silent SNP T T G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr14:58604955T>G uc001xdc.2 - 2 1233 c.1122A>C c.(1120-1122)ACA>ACC p.T374T C14orf37_uc010tro.1_Silent_p.T412T|C14orf37_uc001xdd.2_Silent_p.T374T|C14orf37_uc001xde.2_Silent_p.T374T NM_001001872 NP_001001872 Q86TY3 CN037_HUMAN hypothetical protein LOC145407 precursor 374 Extracellular (Potential). integral to membrane binding 0 TGCCCGTGTGTGTTTCCCCTT 0.537 NA 7 235 0 0 0.00308 0 0 TOMM20L 387990 broad.mit.edu 37 14 58869474 58869474 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr14:58869474C>A uc001xdr.1 + 3 289 c.257C>A c.(256-258)TCT>TAT p.S86Y TOMM20L_uc010trq.1_Intron NM_207377 NP_997260 Q6UXN7 TO20L_HUMAN translocase of outer mitochondrial membrane 20 86 Cytoplasmic (Potential). protein targeting integral to membrane|mitochondrial outer membrane translocase complex 0 CTTTGGTTATCTAGAGGTAAG 0.308 NA 21 113 4.26978e-12 6.00556e-12 0.00333 1 0 PLEKHH1 57475 broad.mit.edu 37 14 68042641 68042641 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr14:68042641G>A uc001xjl.1 + 16 2413 c.2271G>A c.(2269-2271)TTG>TTA p.L757L PLEKHH1_uc010tsw.1_Silent_p.L325L|PLEKHH1_uc001xjn.1_Silent_p.L272L|PLEKHH1_uc010tsx.1_5'Flank NM_020715 NP_065766 Q9ULM0 PKHH1_HUMAN pleckstrin homology domain containing, family H 757 PH 2. cytoskeleton binding 0 all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011) CCAGACGGTTGCTTTCCTCCC 0.592 NA 4 36 0 0 0.009096 0 0 EIF2B2 8892 broad.mit.edu 37 14 75469819 75469819 + Silent SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr14:75469819G>C uc001xrc.1 + 1 208 c.126G>C c.(124-126)CTG>CTC p.L42L NM_014239 NP_055054 P49770 EI2BB_HUMAN eukaryotic translation initiation factor 2B, 42 cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex ATP binding|GTP binding|protein binding|translation initiation factor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00661) TAGGGTTGCTGCGCCAGATCA 0.672 NA 4 37 0 0 0.000602 0 0 C14orf49 161176 broad.mit.edu 37 14 95906001 95906001 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr14:95906001C>G uc001yei.3 - 12 2209 c.2194G>C c.(2194-2196)GAG>CAG p.E732Q C14orf49_uc010avi.2_Missense_Mutation_p.E732Q NM_152592 NP_689805 Q6ZMZ3 SYNE3_HUMAN nesprin-3 732 Spectrin 2.|Cytoplasmic (Potential). cytoskeletal anchoring at nuclear membrane integral to membrane|nuclear outer membrane|SUN-KASH complex actin binding central_nervous_system(1) 1 all_cancers(154;0.0937) COAD - Colon adenocarcinoma(157;0.245) TCTGCCAGCTCCCTGAGCTCC 0.637 NA 14 47 0 0 0.00499 0 0 AK7 122481 broad.mit.edu 37 14 96922763 96922763 + Missense_Mutation SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr14:96922763T>C uc001yfn.2 + 11 1222 c.1178T>C c.(1177-1179)CTG>CCG p.L393P NM_152327 NP_689540 Q96M32 KAD7_HUMAN adenylate kinase 7 393 Adenylate kinase.|Potential. cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity ovary(1) 1 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) TACTACAAACTGCATCACATC 0.393 NA 17 114 0 0 0.00499 0 0 C14orf177 283598 broad.mit.edu 37 14 99183529 99183529 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr14:99183529C>G uc001yfz.1 + 4 715 c.296C>G c.(295-297)GCT>GGT p.A99G NM_182560 NP_872366 Q52M58 CN177_HUMAN hypothetical protein LOC283598 99 0 Melanoma(154;0.128) ATAATGTCTGCTTCGACCATC 0.413 NA 10 74 0 0 0.006214 0 0 RAGE 5891 broad.mit.edu 37 14 102718263 102718263 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr14:102718263T>A uc001ylm.2 - 5 579 c.353A>T c.(352-354)CAT>CTT p.H118L RAGE_uc010txv.1_Missense_Mutation_p.H88L|RAGE_uc001yln.2_5'UTR NM_014226 NP_055041 Q9UQ07 MOK_HUMAN MAPK/MAK/MRK overlapping kinase 118 Protein kinase. signal transduction Golgi apparatus ATP binding|cyclin-dependent protein kinase activity|protein binding ovary(2)|breast(1)|central_nervous_system(1) 4 CCTGTGAATATGATCCAGGGA 0.323 NA 20 59 0 0 0.00278 0 0 AHNAK2 113146 broad.mit.edu 37 14 105416752 105416752 + Missense_Mutation SNP G G T rs11852054 TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr14:105416752G>T uc010axc.1 - 7 5156 c.5036C>A c.(5035-5037)GCC>GAC p.A1679D AHNAK2_uc001ypx.2_Missense_Mutation_p.A1579D NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1679 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) ATCCACCGAGGCCTCGATGGA 0.582 NA 5 144 0.00448238 0.00477449 0.004482 1 0 PACS2 23241 broad.mit.edu 37 14 105818726 105818726 + Silent SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr14:105818726A>G uc001yqt.2 + 3 394 c.219A>G c.(217-219)CGA>CGG p.R73R PACS2_uc001yqs.2_Silent_p.R6R|PACS2_uc001yqv.2_Silent_p.R73R|PACS2_uc001yqu.2_Silent_p.R73R NM_015197 NP_056012 Q86VP3 PACS2_HUMAN phosphofurin acidic cluster sorting protein 2 73 apoptosis|interspecies interaction between organisms endoplasmic reticulum lumen|mitochondrion pancreas(1) 1 all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036) Epithelial(152;0.138) GCTCCAAACGAATCCTGCGGT 0.532 NA OREG0022968 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 221 0 0 0.006122 0 0 GABRG3 2567 broad.mit.edu 37 15 27777780 27777780 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr15:27777780C>T uc001zbg.1 + 10 1323 c.1157C>T c.(1156-1158)ACT>ATT p.T386I NM_033223 NP_150092 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 386 Cytoplasmic (Probable). T -> P (in Ref. 1; AAB39369). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity 0 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) CCACCACCAACTGCGATGATC 0.428 NSCLC(114;800 1656 7410 37729 45293) NA 7 32 0 0 0.001984 0 0 APBA2 321 broad.mit.edu 37 15 29346679 29346679 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr15:29346679C>A uc001zck.2 + 3 799 c.592C>A c.(592-594)CCC>ACC p.P198T APBA2_uc010azj.2_Missense_Mutation_p.P198T|APBA2_uc010uat.1_Missense_Mutation_p.P198T|APBA2_uc001zcl.2_Missense_Mutation_p.P198T|APBA2_uc010uas.1_Missense_Mutation_p.P198T NM_005503 NP_005494 Q99767 APBA2_HUMAN amyloid beta A4 precursor protein-binding, 198 STXBP1-binding. DEPSVLEAHDQEEDGHYCASKEGYQDYYPEEANGNTGASPY RLRR -> MSPPSLRPMTRKKMVTMCQQRGLPGLLPRGGQR EHRRLPLPPEA (in Ref. 1; AAC39767). nervous system development|protein transport protein binding 0 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) GGACTACTACCCCGAGGAGGC 0.632 NA 10 23 4.68919e-08 5.93505e-08 0.008291 1 0 SPG11 80208 broad.mit.edu 37 15 44905680 44905680 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr15:44905680G>C uc001ztx.2 - 17 3124 c.3093C>G c.(3091-3093)CAC>CAG p.H1031Q SPG11_uc010ueh.1_Missense_Mutation_p.H1031Q|SPG11_uc010uei.1_Missense_Mutation_p.H1031Q NM_025137 NP_079413 Q96JI7 SPTCS_HUMAN spatacsin isoform 1 1031 Extracellular (Potential). cell death cytosol|integral to membrane|nucleus protein binding ovary(4)|skin(1) 5 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) CAAACCAAGGGTGTGCTTCAT 0.343 NA 11 52 0 0 0.000978 0 0 GATM 2628 broad.mit.edu 37 15 45660383 45660383 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr15:45660383C>A uc001zvc.2 - 4 889 c.560G>T c.(559-561)CGT>CTT p.R187L GATM_uc001zvb.2_Missense_Mutation_p.R58L|GATM_uc010uev.1_Missense_Mutation_p.R240L NM_001482 NP_001473 P50440 GATM_HUMAN L-arginine:glycine amidinotransferase precursor 187 creatine biosynthetic process mitochondrial inner membrane|mitochondrial intermembrane space glycine amidinotransferase activity|protein binding 0 all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06) Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129) GAAGCGTGAACGCCATGCCAT 0.488 NA 9 29 1.58986e-06 1.91511e-06 0.008291 1 0 SEMA6D 80031 broad.mit.edu 37 15 48057206 48057206 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr15:48057206G>T uc010bek.2 + 13 1740 c.1380G>T c.(1378-1380)TTG>TTT p.L460F SEMA6D_uc001zvw.2_Missense_Mutation_p.L460F|SEMA6D_uc001zvx.1_Missense_Mutation_p.L460F|SEMA6D_uc001zvy.2_Missense_Mutation_p.L460F|SEMA6D_uc001zvz.2_Missense_Mutation_p.L460F|SEMA6D_uc001zwa.2_Missense_Mutation_p.L460F|SEMA6D_uc001zwb.2_Missense_Mutation_p.L460F|SEMA6D_uc001zwc.2_Missense_Mutation_p.L460F NM_153618 NP_705871 Q8NFY4 SEM6D_HUMAN semaphorin 6D isoform 4 precursor 460 Sema.|Extracellular (Potential). axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity skin(3)|breast(1) 4 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) CTTTCTCTTTGAACGACAGCG 0.453 NA 5 103 2.7689e-08 3.53762e-08 0.001984 1 0 SLC24A5 283652 broad.mit.edu 37 15 48413344 48413344 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr15:48413344C>A uc001zwe.2 + 1 176 c.103C>A c.(103-105)CGT>AGT p.R35S SLC24A5_uc001zwd.2_Missense_Mutation_p.R35S|SLC24A5_uc010bel.2_Missense_Mutation_p.R35S NM_205850 NP_995322 Q71RS6 NCKX5_HUMAN solute carrier family 24, member 5 precursor 35 Extracellular (Potential). response to stimulus integral to membrane|melanosome|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity 0 all_lung(180;0.00217) all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07) CCTGCCCCAACGTCTCCCAAG 0.587 NA 6 14 2.0095e-06 2.40531e-06 0.001984 1 0 SLC12A1 6557 broad.mit.edu 37 15 48537080 48537080 + Nonsense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr15:48537080C>A uc001zwn.3 + 11 1647 c.1431C>A c.(1429-1431)TAC>TAA p.Y477* SLC12A1_uc010uew.1_Nonsense_Mutation_p.Y283*|SLC12A1_uc010bem.2_Nonsense_Mutation_p.Y477*|SLC12A1_uc001zwq.3_Nonsense_Mutation_p.Y248*|SLC12A1_uc001zwr.3_Nonsense_Mutation_p.Y204* NM_000338 NP_000329 Q13621 S12A1_HUMAN sodium potassium chloride cotransporter 2 477 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity ovary(1)|central_nervous_system(1) 2 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) CATGTCAGTACGGGCTGATGA 0.383 NA 17 45 1.02788e-11 1.44361e-11 0.00499 1 0 SECISBP2L 9728 broad.mit.edu 37 15 49284799 49284799 + Missense_Mutation SNP A A C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr15:49284799A>C uc001zxe.1 - 18 3082 c.2948T>G c.(2947-2949)CTT>CGT p.L983R SECISBP2L_uc001zxd.1_Missense_Mutation_p.L938R NM_014701 NP_055516 Q93073 SBP2L_HUMAN SECIS binding protein 2-like 983 breast(1)|skin(1) 2 GCCAGGTACAAGAGTGCTGGT 0.393 NA 4 97 0 0 0.000602 0 0 SECISBP2L 9728 broad.mit.edu 37 15 49327723 49327723 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr15:49327723C>A uc001zxe.1 - 3 470 c.336G>T c.(334-336)ATG>ATT p.M112I SECISBP2L_uc001zxd.1_Missense_Mutation_p.M112I|SECISBP2L_uc010bep.1_Intron|SECISBP2L_uc010beq.1_Missense_Mutation_p.M112I NM_014701 NP_055516 Q93073 SBP2L_HUMAN SECIS binding protein 2-like 112 breast(1)|skin(1) 2 ATGGTGCTGGCATCAGCTGAT 0.453 NA 7 187 0.00307968 0.00329147 0.00308 1 0 SLC27A2 11001 broad.mit.edu 37 15 50519376 50519376 + Splice_Site SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr15:50519376G>A uc001zxw.2 + 7 1689 c.1457_splice c.e7+1 p.R486_splice SLC27A2_uc010bes.2_Splice_Site_p.R433_splice|SLC27A2_uc001zxx.2_Splice_Site_p.R251_splice NM_003645 NP_003636 O14975 S27A2_HUMAN solute carrier family 27 (fatty acid bile acid biosynthetic process|fatty acid alpha-oxidation endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity ovary(1)|skin(1) 2 all_lung(180;0.00177) all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113) ATACATTCCGGTTGGTTTTTC 0.398 NA 5 94 0 0 0.001168 0 0 WDR72 256764 broad.mit.edu 37 15 54003555 54003555 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr15:54003555A>T uc002acj.2 - 8 877 c.835T>A c.(835-837)TAC>AAC p.Y279N WDR72_uc010bfi.1_Missense_Mutation_p.Y279N NM_182758 NP_877435 Q3MJ13 WDR72_HUMAN WD repeat domain 72 279 lung(1)|skin(1) 2 all cancers(107;0.0511) TGATAGATGTAACTGTGACCA 0.448 NA 15 94 0 0 0.00499 0 0 TBC1D21 161514 broad.mit.edu 37 15 74178875 74178875 + Silent SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr15:74178875G>T uc002avz.2 + 8 782 c.699G>T c.(697-699)GTG>GTT p.V233V TBC1D21_uc010ulc.1_Silent_p.V197V NM_153356 NP_699187 Q8IYX1 TBC21_HUMAN TBC1 domain family, member 21 233 Rab-GAP TBC. intracellular Rab GTPase activator activity ovary(2) 2 CAGGGGCTGTGCAGTCCCTCT 0.562 NA 7 42 0.000157383 0.000176986 0.00308 1 0 SCAMP5 192683 broad.mit.edu 37 15 75310808 75310808 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr15:75310808G>T uc002azk.1 + 6 607 c.445G>T c.(445-447)GTG>TTG p.V149L SCAMP5_uc002azl.1_Missense_Mutation_p.V149L|SCAMP5_uc002azm.1_Missense_Mutation_p.V149L|SCAMP5_uc002azn.1_Missense_Mutation_p.V157L|SCAMP5_uc010uly.1_Missense_Mutation_p.V78L NM_138967 NP_620417 Q8TAC9 SCAM5_HUMAN secretory carrier membrane protein 5 149 Helical; (Potential). exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane protein binding ovary(1) 1 TGGCTCGGCGGTGGTGATGCT 0.582 NA 13 106 9.31168e-06 1.09522e-05 0.001855 1 0 CSPG4 1464 broad.mit.edu 37 15 75982722 75982722 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr15:75982722A>T uc002baw.2 - 3 777 c.684T>A c.(682-684)TTT>TTA p.F228L NM_001897 NP_001888 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 precursor 228 Extracellular (Potential).|Neurite growth inhibition (By similarity).|Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2. angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity ovary(2)|pancreas(1) 3 TGGTGAGTGTAAACTCTAGGG 0.617 NA 23 36 0 0 0.003954 0 0 PGPEP1L 145814 broad.mit.edu 37 15 99512842 99512843 + Missense_Mutation DNP CG CG AA TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 CG CG - - CG CG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr15:99512842_99512843CG>AA uc002bum.2 - 4 388_389 c.182_183CG>TT c.(181-183)GCG>GTT p.A61V PGPEP1L_uc010bop.2_Missense_Mutation_p.A7V|PGPEP1L_uc002bun.2_RNA NM_001102612 NP_001096082 A6NFU8 PGPIL_HUMAN pyroglutamyl-peptidase 1-like protein 61 proteolysis cysteine-type peptidase activity 0 CCAGAATGATCGCCTTGGCGGC 0.624 NA 18 101 0 0 0.004672 0 0 LASS3 204219 broad.mit.edu 37 15 100942989 100942989 + Nonsense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr15:100942989C>A uc002bvz.2 - 13 1583 c.1081G>T c.(1081-1083)GAG>TAG p.E361* LASS3_uc002bwa.2_Nonsense_Mutation_p.E372*|LASS3_uc002bwb.2_Nonsense_Mutation_p.E361* NM_178842 NP_849164 Q8IU89 CERS3_HUMAN LAG1 longevity assurance homolog 3 361 endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity ovary(2)|pancreas(1)|skin(1) 4 Lung NSC(78;0.0018)|all_lung(78;0.00278)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.000867)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) CAATCCATCTCTTTGCCTTTG 0.418 NSCLC(135;1149 2482 10680 49908) NA 6 40 5.9392e-07 7.23697e-07 0.001168 1 0 TPSAB1 7177 broad.mit.edu 37 16 1291632 1291632 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr16:1291632C>A uc002ckz.2 + 4 483 c.431C>A c.(430-432)CCT>CAT p.P144H TPSAB1_uc010uux.1_Missense_Mutation_p.P80H NM_003294 NP_003285 Q15661 TRYB1_HUMAN tryptase alpha/beta 1 precursor 144 Peptidase S1. defense response|proteolysis extracellular space protein binding|serine-type endopeptidase activity 0 Hepatocellular(780;0.00369) ACCCTGCCCCCTGCCTCAGAG 0.672 NA 3 12 0.00116845 0.00127467 0.001168 1 0 ALG1 56052 broad.mit.edu 37 16 5129756 5129756 + Silent SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr16:5129756A>G uc002cym.2 + 9 950 c.909A>G c.(907-909)GAA>GAG p.E303E ALG1_uc002cyj.2_Silent_p.E192E|ALG1_uc002cyn.2_Silent_p.E303E|ALG1_uc010bue.2_Silent_p.E192E|ALG1_uc010uxy.1_Silent_p.E192E NM_019109 NP_061982 Q9BT22 ALG1_HUMAN beta-1,4-mannosyltransferase 303 Lumenal (Potential). dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane chitobiosyldiphosphodolichol beta-mannosyltransferase activity upper_aerodigestive_tract(1)|ovary(1) 2 Ovarian(90;0.0164) CAGAGTTTGAACAACTGACTC 0.348 NA 3 138 0 0 0.001984 0 0 NOMO1 23420 broad.mit.edu 37 16 14989374 14989374 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr16:14989374A>T uc002dcv.2 + 31 3607 c.3541A>T c.(3541-3543)ATT>TTT p.I1181F NM_014287 NP_055102 Q15155 NOMO1_HUMAN nodal modulator 1 precursor 1181 Cytoplasmic (Potential). integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding ovary(1) 1 TTTCTAGCTCATTCCTTTGCT 0.542 NA 72 233 0 0 0.00361 0 0 XYLT1 64131 broad.mit.edu 37 16 17353089 17353089 + Silent SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr16:17353089G>T uc002dfa.2 - 3 754 c.669C>A c.(667-669)GCC>GCA p.A223A NM_022166 NP_071449 Q86Y38 XYLT1_HUMAN xylosyltransferase I 223 Lumenal (Potential). glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity ovary(4) 4 TGTTGGCTGCGGCTCTGTCCC 0.592 NA 34 165 3.62531e-18 5.4726e-18 0.004289 1 0 SMG1 23049 broad.mit.edu 37 16 18882704 18882704 + Missense_Mutation SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr16:18882704T>C uc002dfm.2 - 16 2647 c.2284A>G c.(2284-2286)AAA>GAA p.K762E SMG1_uc010bwb.2_Missense_Mutation_p.K622E NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 762 Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1) 16 AAAAGGCCTTTGCAAAATTTA 0.348 NA 10 19 0 0 0.008291 0 0 SLC5A11 115584 broad.mit.edu 37 16 24909338 24909338 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr16:24909338C>A uc002dmu.2 + 10 1146 c.914C>A c.(913-915)GCC>GAC p.A305D SLC5A11_uc002dms.2_Missense_Mutation_p.A241D|SLC5A11_uc010vcd.1_Missense_Mutation_p.A270D|SLC5A11_uc002dmt.2_Nonsense_Mutation_p.C172*|SLC5A11_uc010vce.1_Missense_Mutation_p.A235D|SLC5A11_uc010bxt.2_Missense_Mutation_p.A241D NM_052944 NP_443176 Q8WWX8 SC5AB_HUMAN solute carrier family 5 (sodium/glucose 305 Cytoplasmic (Potential). apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0365) CTGTCCCATGCCAAAGGAGGT 0.498 NA 12 285 0.00185496 0.00201663 0.001855 1 0 CLN3 1201 broad.mit.edu 37 16 28488912 28488912 + Silent SNP G G T rs1064886 TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr16:28488912G>T uc002dpo.2 - 15 1565 c.1242C>A c.(1240-1242)ATC>ATA p.I414I uc010vct.1_Intron|CLN3_uc002dpl.2_Silent_p.I336I|CLN3_uc010vcu.1_Silent_p.I314I|CLN3_uc002dpn.2_Silent_p.I315I|CLN3_uc002dpm.2_Silent_p.I360I|CLN3_uc010vcv.1_Silent_p.I390I|CLN3_uc010byd.2_Silent_p.I317I|CLN3_uc002dpp.2_Silent_p.I414I|CLN3_uc002dpt.1_Silent_p.I314I|CLN3_uc002dpq.1_Silent_p.I366I|CLN3_uc010bye.1_Silent_p.I397I|CLN3_uc002dpr.1_RNA|CLN3_uc010byf.1_RNA|CLN3_uc002dps.1_Silent_p.I287I|CLN3_uc002dpu.1_Silent_p.I312I NM_000086 NP_000077 Q13286 CLN3_HUMAN ceroid-lipofuscinosis, neuronal 3 414 Helical; (Potential). amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network unfolded protein binding 0 GTGTGTCAGAGATGCAGGTGG 0.617 NA 35 70 1.07121e-22 1.69817e-22 0.006999 1 0 FAM57B 83723 broad.mit.edu 37 16 30041747 30041747 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr16:30041747G>A uc002dvt.2 - 1 440 c.102C>T c.(100-102)GCC>GCT p.A34A uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|FAM57B_uc002dvu.2_5'Flank NM_031478 NP_113666 Q71RH2 FA57B_HUMAN hypothetical protein LOC83723 34 TLC. endoplasmic reticulum|integral to membrane 0 TGACTGCGTCGGCCTCCTCCC 0.622 NA 5 37 0 0 0.000602 0 0 LONP2 83752 broad.mit.edu 37 16 48304127 48304127 + Nonsense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr16:48304127G>T uc002efi.1 + 7 1272 c.1183G>T c.(1183-1185)GAG>TAG p.E395* LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Nonsense_Mutation_p.E351* NM_031490 NP_113678 Q86WA8 LONP2_HUMAN peroxisomal LON protease-like 395 misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing nucleoid|peroxisomal matrix ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity 0 TCTAGGTCGAGAGTTCCACAG 0.463 NA 29 151 7.01153e-11 9.6753e-11 0.007291 1 0 SALL1 6299 broad.mit.edu 37 16 51174718 51174718 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr16:51174718G>T uc010vgs.1 - 2 1446 c.1415C>A c.(1414-1416)ACC>AAC p.T472N SALL1_uc010vgr.1_Missense_Mutation_p.T375N|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 472 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) CCTCTCTCCGGTATGGGAACG 0.502 GBM(103;1352 1446 1855 4775 8890) NA 24 97 3.01185e-09 3.94915e-09 0.003954 1 0 SALL1 6299 broad.mit.edu 37 16 51175401 51175401 + Silent SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr16:51175401C>G uc010vgs.1 - 2 763 c.732G>C c.(730-732)CTG>CTC p.L244L SALL1_uc010vgr.1_Silent_p.L147L|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 244 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) CGATCAATTGCAGCTGGTGGA 0.542 GBM(103;1352 1446 1855 4775 8890) NA 28 71 0 0 0.002836 0 0 CHD9 80205 broad.mit.edu 37 16 53338272 53338272 + Silent SNP T T G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr16:53338272T>G uc002ehb.2 + 30 6518 c.6354T>G c.(6352-6354)TCT>TCG p.S2118S CHD9_uc002egy.2_Silent_p.S2118S|CHD9_uc002ehc.2_Silent_p.S2118S|CHD9_uc002ehf.2_Silent_p.S1232S|CHD9_uc010cbw.2_Intron|CHD9_uc002ehg.1_Silent_p.S124S NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 2118 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1) 7 all_cancers(37;0.0212) ACCCAGCTTCTAAGAAACCAA 0.448 NA 5 20 0 0 0.000602 0 0 IRX6 79190 broad.mit.edu 37 16 55360341 55360341 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr16:55360341C>T uc002ehy.2 + 2 672 c.139C>T c.(139-141)CTC>TTC p.L47F IRX6_uc002ehx.2_Missense_Mutation_p.L47F|IRX6_uc010ccb.1_RNA NM_024335 NP_077311 P78412 IRX6_HUMAN iroquois homeobox protein 6 47 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(5)|ovary(1) 6 AGCGCCCGCTCTCTGCTGCGC 0.637 NA 5 25 0 0 0.001168 0 0 CES7 221223 broad.mit.edu 37 16 55883641 55883641 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr16:55883641G>T uc002eip.2 - 11 1467 c.1318C>A c.(1318-1320)CAG>AAG p.Q440K CES7_uc002eio.2_Intron|CES7_uc002eiq.2_Missense_Mutation_p.Q201K|CES7_uc002eir.2_Missense_Mutation_p.Q334K NM_001143685 NP_001137157 Q6NT32 EST5A_HUMAN carboxylesterase 7 isoform 1 440 extracellular region carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity 0 all cancers(182;0.229)|Epithelial(162;0.231) TCAAAGCACTGAGGCCGGTGC 0.557 NA 10 37 1.52009e-12 2.16373e-12 0.003163 1 0 HPR 3250 broad.mit.edu 37 16 72110394 72110394 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr16:72110394C>A uc002fby.2 + 5 491 c.461C>A c.(460-462)GCA>GAA p.A154E TXNL4B_uc010cgl.2_Intron NM_020995 NP_066275 P00739 HPTR_HUMAN haptoglobin-related protein precursor 154 Peptidase S1. proteolysis spherical high-density lipoprotein particle hemoglobin binding|serine-type endopeptidase activity central_nervous_system(1) 1 Ovarian(137;0.125) TCAGAAAATGCAACAGCGAAA 0.463 NA 16 40 6.44725e-10 8.6695e-10 0.002299 1 0 SPATA2L 124044 broad.mit.edu 37 16 89764600 89764600 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr16:89764600C>A uc002foj.2 - 3 482 c.417G>T c.(415-417)GTG>GTT p.V139V SPATA2L_uc002fok.2_Intron NM_152339 NP_689552 Q8IUW3 SPA2L_HUMAN spermatogenesis associated 2-like 139 0 Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355) BRCA - Breast invasive adenocarcinoma(80;0.0272) GCAGGGCGGTCACCATGAGCC 0.657 NA 32 105 2.40579e-17 3.6259e-17 0.00623 1 0 PRPF8 10594 broad.mit.edu 37 17 1557163 1557163 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:1557163G>A uc002fte.2 - 38 6249 c.6135C>T c.(6133-6135)CGC>CGT p.R2045R NM_006445 NP_006436 Q6P2Q9 PRP8_HUMAN U5 snRNP-specific protein 2045 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding lung(4)|ovary(2) 6 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) TGTTGACAGTGCGAGTCTGTG 0.547 NA 70 197 0 0 0.00361 0 0 SPATA22 84690 broad.mit.edu 37 17 3366057 3366057 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:3366057C>A uc002fvm.2 - 4 414 c.177G>T c.(175-177)TGG>TGT p.W59C SPATA22_uc010vrg.1_Missense_Mutation_p.W43C|SPATA22_uc010vrf.1_Missense_Mutation_p.W59C|SPATA22_uc002fvn.2_Missense_Mutation_p.W59C|SPATA22_uc002fvo.2_Missense_Mutation_p.W59C|SPATA22_uc002fvp.2_Missense_Mutation_p.W59C|SPATA22_uc010ckf.2_Missense_Mutation_p.W16C NM_032598 NP_115987 Q8NHS9 SPT22_HUMAN spermatogenesis associated 22 59 0 CTTCCCAGGCCCAATCTCAAA 0.338 NA 62 123 1.17253e-29 1.92311e-29 0.00361 1 0 DLG4 1742 broad.mit.edu 37 17 7097767 7097767 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:7097767T>A uc002get.3 - 14 2679 c.1478A>T c.(1477-1479)CAG>CTG p.Q493L DLG4_uc010vtm.1_RNA|DLG4_uc010vtn.1_Missense_Mutation_p.Q390L|DLG4_uc010cly.2_Missense_Mutation_p.Q447L|DLG4_uc010vto.1_Missense_Mutation_p.Q490L NM_001365 NP_001356 P78352 DLG4_HUMAN post-synaptic density protein 95 isoform 1 450 SH3. axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome protein binding|protein C-terminus binding ovary(1)|breast(1) 2 GCTCAGGGCCTGGCTCAGGAA 0.597 NA 7 10 0 0 0.006214 0 0 TP53 7157 broad.mit.edu 37 17 7574003 7574003 + Nonsense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:7574003G>A uc002gim.2 - 10 1218 c.1024C>T c.(1024-1026)CGA>TGA p.R342* TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Nonsense_Mutation_p.R210*|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Nonsense_Mutation_p.R342* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 342 Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Nuclear export signal.|Interaction with HIPK2. R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> L (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R342*(49)|p.0?(7)|p.R342fs*3(5)|p.R342P(3)|p.R342Q(2)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TTCAGCTCTCGGAACATCTCG 0.498 Pancreas(47;798 1329 9957 10801) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 7 20 0 0 0.00308 0 0 TP53 7157 broad.mit.edu 37 17 7577095 7577095 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:7577095G>T uc002gim.2 - 8 1037 c.843C>A c.(841-843)GAC>GAA p.D281E TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.D281E|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.D149E|TP53_uc010cng.1_Missense_Mutation_p.D149E|TP53_uc002gii.1_Missense_Mutation_p.D149E|TP53_uc010cnh.1_Missense_Mutation_p.D281E|TP53_uc010cni.1_Missense_Mutation_p.D281E|TP53_uc002gij.2_Missense_Mutation_p.D281E NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 281 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). D -> Y (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> A (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.D281E(25)|p.D281H(19)|p.D281N(18)|p.R282W(10)|p.D281G(10)|p.0?(7)|p.D281Y(6)|p.D281D(5)|p.D281V(3)|p.D281fs*63(2)|p.?(2)|p.R280_D281delRD(2)|p.D281A(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275fs*20(1)|p.R282fs*24(1)|p.D281R(1)|p.D281_R282delDR(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CTGTGCGCCGGTCTCTCCCAG 0.557 Pancreas(47;798 1329 9957 10801) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 19 48 1.33834e-09 1.78194e-09 0.007413 1 0 TMEM107 84314 broad.mit.edu 37 17 8079332 8079332 + Nonsense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:8079332G>A uc002gkg.3 - 2 210 c.100C>T c.(100-102)CAG>TAG p.Q34* TMEM107_uc002gkh.3_Nonsense_Mutation_p.Q34*|TMEM107_uc002gki.3_Nonsense_Mutation_p.Q34*|TMEM107_uc002gkj.3_Intron|TMEM107_uc002gkk.2_Nonsense_Mutation_p.Q34* NM_183065 NP_898888 Q6UX40 TM107_HUMAN transmembrane protein 107 isoform 2 34 integral to membrane 0 AGGCAGGCCTGTATGTTGCTG 0.607 NA 5 93 0 0 0.000602 0 0 WDR16 146845 broad.mit.edu 37 17 9503448 9503448 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:9503448C>G uc002gly.2 + 6 770 c.701C>G c.(700-702)CCC>CGC p.P234R WDR16_uc002glz.2_Missense_Mutation_p.P166R|WDR16_uc010coc.2_Missense_Mutation_p.P244R NM_145054 NP_659491 Q8N1V2 WDR16_HUMAN WD40-repeat protein upregulated in HCC isoform 234 cytoplasm|intracellular membrane-bounded organelle protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 AAAATGAACCCCAGGACTAAA 0.428 NA 5 282 0 0 0.001984 0 0 MYH13 8735 broad.mit.edu 37 17 10243518 10243518 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:10243518T>A uc002gmk.1 - 18 2095 c.2005A>T c.(2005-2007)ACC>TCC p.T669S NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 669 Myosin head-like.|Actin-binding (By similarity). muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 TGAGGGTGGGTGCTCCTTAAG 0.433 NA 8 29 0 0 0.00308 0 0 MYH2 4620 broad.mit.edu 37 17 10432238 10432238 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:10432238C>T uc010coi.2 - 27 3641 c.3513G>A c.(3511-3513)AAG>AAA p.K1171K uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.K1171K|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1171 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 CCTCCCGCTTCTTGTTCATCT 0.597 NA 5 214 0 0 0.001984 0 0 MYH3 4621 broad.mit.edu 37 17 10558331 10558331 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:10558331G>A uc002gmq.1 - 2 128 c.51C>T c.(49-51)CTC>CTT p.L17L NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 17 Myosin head-like. 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 CTGACTTCCGGAGGAAAGGAG 0.537 NA 17 193 0 0 0.008871 0 0 MYOCD 93649 broad.mit.edu 37 17 12666523 12666523 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:12666523G>T uc002gnn.2 + 13 2678 c.2379G>T c.(2377-2379)CAG>CAT p.Q793H MYOCD_uc002gno.2_Missense_Mutation_p.Q841H|MYOCD_uc002gnq.2_Missense_Mutation_p.Q517H NM_153604 NP_705832 Q8IZQ8 MYCD_HUMAN myocardin isoform 2 793 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding central_nervous_system(2)|skin(2)|ovary(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) CAGGCAGCCAGATCCCCTTTG 0.493 NA 41 110 1.82294e-38 3.02124e-38 0.00361 1 0 FAM18B2 201158 broad.mit.edu 37 17 15406280 15406280 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:15406280G>A uc002goq.2 - 6 912 c.729C>T c.(727-729)CTC>CTT p.L243L CDRT4_uc010vvw.1_Intron|FAM18B2_uc010vvx.1_Intron NM_145301 NP_660344 Q96ET8 F18B2_HUMAN hypothetical protein LOC201158 isoform 1 243 integral to membrane 0 UCEC - Uterine corpus endometrioid carcinoma (92;0.0872)|BRCA - Breast invasive adenocarcinoma(8;0.0581)|READ - Rectum adenocarcinoma(1115;0.0967) GCCGCAAGGAGAGAAATAGGC 0.592 NA 3 30 0 0 0.004672 0 0 TRPV2 51393 broad.mit.edu 37 17 16326837 16326837 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:16326837A>G uc002gpy.2 + 5 1047 c.680A>G c.(679-681)TAC>TGC p.Y227C TRPV2_uc002gpz.2_Intron NM_016113 NP_057197 Q9Y5S1 TRPV2_HUMAN transient receptor potential cation channel, 227 Cytoplasmic (Potential).|Required for interaction with SLC50A1 (By similarity).|ANK 4. sensory perception integral to plasma membrane|melanosome calcium channel activity ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) GTGGTAAGCTACCTCCTGGAG 0.612 NA 3 37 0 0 0.004672 0 0 Unknown 0 broad.mit.edu 37 17 21731297 21731297 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:21731297G>A uc002gyy.3 + 2 724 c.599G>A c.(598-600)AGC>AAC p.S200N SubName: Full=cDNA FLJ51326, highly similar to Homo sapiens ubiquitin B (UBB), mRNA; NA TTGCAGGCAAGCAGCTGGAAG 0.527 NA 29 79 0 0 0.009535 0 0 RPL23A 6147 broad.mit.edu 37 17 27050643 27050643 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:27050643G>T uc002hci.2 + 4 465 c.441G>T c.(439-441)TTG>TTT p.L147F RPL23A_uc002hck.1_RNA|SNORD4B_uc002hcn.1_5'Flank NM_000984 NP_000975 P62750 RL23A_HUMAN ribosomal protein L23a 147 cell proliferation|endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleus nucleotide binding|protein binding|rRNA binding|structural constituent of ribosome ovary(1) 1 Lung NSC(42;0.00431) ACGATGCTTTGGATGTTGCCA 0.498 NA 7 284 2.7689e-08 3.53762e-08 0.001984 1 0 AMAC1 146861 broad.mit.edu 37 17 33521019 33521019 + Missense_Mutation SNP C C A rs148354465 TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:33521019C>A uc002hjd.2 - 1 394 c.308G>T c.(307-309)CGG>CTG p.R103L NM_152462 NP_689675 Q8N808 AMAC1_HUMAN acyl-malonyl condensing enzyme 1 103 DUF6 1. integral to membrane 0 BRCA - Breast invasive adenocarcinoma(366;0.0917) GAAGAAGGCCCGGCTTCGGAT 0.592 NA 35 204 1.36615e-20 2.12312e-20 0.002836 1 0 GPR179 440435 broad.mit.edu 37 17 36499029 36499029 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:36499029G>T uc002hpz.2 - 1 665 c.644C>A c.(643-645)CCG>CAG p.P215Q NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN GPR158-like 1 precursor 215 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) ATCTGCCTGCGGCCACTTGGG 0.627 NA 30 84 9.39024e-22 1.47628e-21 0.009718 1 0 SRCIN1 80725 broad.mit.edu 37 17 36708820 36708820 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:36708820C>A uc002hqd.2 - 13 2568 c.2343G>T c.(2341-2343)CCG>CCT p.P781P SRCIN1_uc002hqf.1_Silent_p.P653P|SRCIN1_uc002hqe.2_Silent_p.P635P|SRCIN1_uc002hqg.2_Silent_p.P87P NM_025248 NP_079524 Q9C0H9 SRCN1_HUMAN SNAP25-interacting protein 653 exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane protein kinase binding 0 TCTGCAGGCCCGGGAAGTGAG 0.647 NA 3 19 0.004672 0.00496531 0.004672 1 0 ACLY 47 broad.mit.edu 37 17 40063719 40063719 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:40063719G>A uc002hyg.2 - 7 886 c.723C>T c.(721-723)CCC>CCT p.P241P ACLY_uc002hyh.2_Silent_p.P241P|ACLY_uc002hyi.2_Silent_p.P295P|ACLY_uc010wfx.1_Silent_p.P295P|ACLY_uc010wfy.1_Intron NM_001096 NP_001087 P53396 ACLY_HUMAN ATP citrate lyase isoform 1 241 ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process citrate lyase complex|cytosol|nucleus ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity ovary(2)|central_nervous_system(1) 3 Breast(137;0.000143) CCCGCCCGAAGGGGGGAGGGA 0.577 Colon(64;807 1396 15971 30971) NA 35 95 0 0 0.004878 0 0 DBF4B 80174 broad.mit.edu 37 17 42828116 42828116 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:42828116C>A uc002ihf.2 + 14 1556 c.1343C>A c.(1342-1344)CCA>CAA p.P448Q DBF4B_uc010wjc.1_Intron NM_145663 NP_663696 Q8NFT6 DBF4B_HUMAN DBF4 homolog B isoform 1 448 cell cycle nucleus nucleic acid binding|zinc ion binding 0 Prostate(33;0.0322) TGTCCCTGCCCAGCCTCCTTT 0.622 NA 27 54 1.7881e-09 2.3708e-09 0.008361 1 0 IGF2BP1 10642 broad.mit.edu 37 17 47075138 47075138 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:47075138G>A uc002iom.2 + 1 365 c.31G>A c.(31-33)GAG>AAG p.E11K IGF2BP1_uc010dbj.2_Missense_Mutation_p.E11K NM_006546 NP_006537 Q9NZI8 IF2B1_HUMAN insulin-like growth factor 2 mRNA binding 11 RRM 1. CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity kidney(1) 1 CAACCTCAACGAGAGCGTGAC 0.637 Esophageal Squamous(198;1041 2123 8248 37119 38268) NA 39 98 0 0 0.00623 0 0 SPAG9 9043 broad.mit.edu 37 17 49072464 49072464 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:49072464C>G uc002itc.2 - 18 2389 c.2180G>C c.(2179-2181)CGA>CCA p.R727P SPAG9_uc002itb.2_Missense_Mutation_p.R713P|SPAG9_uc002itd.2_Missense_Mutation_p.R717P|SPAG9_uc002itf.2_Missense_Mutation_p.R548P|SPAG9_uc002ita.2_Missense_Mutation_p.R570P|SPAG9_uc002ite.2_Missense_Mutation_p.R557P NM_001130528 NP_001124000 O60271 JIP4_HUMAN sperm associated antigen 9 isoform 1 727 Potential. positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm p.L727L(1) lung(4)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(22;4.24e-07) AGAGGCACTTCGCTGTTTACT 0.398 NA 54 120 0 0 0.00361 0 0 C17orf67 339210 broad.mit.edu 37 17 54892331 54892331 + Splice_Site SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:54892331C>T uc010dci.2 - 2 135 c.128_splice c.e2-1 p.E43_splice C17orf67_uc002iuq.2_Splice_Site NM_001085430 NP_001078899 Q0P5P2 CQ067_HUMAN hypothetical protein LOC339210 precursor extracellular region 0 Breast(9;2.49e-06) GGGGAGGTCTCTGGAAAAGTC 0.502 NA 14 506 0 0 0.001855 0 0 MRC2 9902 broad.mit.edu 37 17 60768328 60768328 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:60768328A>T uc002jad.2 + 28 4433 c.4031A>T c.(4030-4032)CAG>CTG p.Q1344L MRC2_uc002jae.2_Missense_Mutation_p.Q415L|MRC2_uc002jaf.2_Missense_Mutation_p.Q210L NM_006039 NP_006030 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 1344 Extracellular (Potential).|C-type lectin 8. endocytosis integral to membrane receptor activity|sugar binding ovary(1)|central_nervous_system(1)|skin(1) 3 CTGGTCTGGCAGGACAACACA 0.607 NA 7 18 0 0 0.004482 0 0 ACE 1636 broad.mit.edu 37 17 61566371 61566371 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:61566371G>C uc002jau.1 + 17 2541 c.2519G>C c.(2518-2520)CGG>CCG p.R840P ACE_uc002jav.1_Missense_Mutation_p.R266P|ACE_uc010ddv.1_Missense_Mutation_p.R67P|ACE_uc010wpj.1_Missense_Mutation_p.R266P|ACE_uc002jaw.1_RNA|ACE_uc010wpk.1_Intron NM_000789 NP_000780 P12821 ACE_HUMAN angiotensin I converting enzyme 1 isoform 1 840 Extracellular (Potential).|Peptidase M2 2. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) GACCTGGAGCGGCTCTTCCAG 0.622 NA 20 46 0 0 0.010504 0 0 LRRC37A3 374819 broad.mit.edu 37 17 62855619 62855619 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:62855619C>G uc002jey.2 - 11 5176 c.4645G>C c.(4645-4647)GAG>CAG p.E1549Q LRRC37A3_uc010wqg.1_Missense_Mutation_p.E667Q|LRRC37A3_uc002jex.1_Missense_Mutation_p.E526Q|LRRC37A3_uc010wqf.1_Missense_Mutation_p.E587Q|LRRC37A3_uc010dek.1_Missense_Mutation_p.E555Q NM_199340 NP_955372 O60309 L37A3_HUMAN leucine rich repeat containing 37, member A3 1549 Extracellular (Potential). integral to membrane 0 ATGTAGTTCTCAGTCTTCCAT 0.488 NA 11 463 0 0 0.00245 0 0 GNA13 10672 broad.mit.edu 37 17 63049634 63049634 + Nonsense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:63049634G>A uc002jfc.2 - 2 705 c.496C>T c.(496-498)CGA>TGA p.R166* GNA13_uc010wqh.1_Nonsense_Mutation_p.R71* NM_006572 NP_006563 Q14344 GNA13_HUMAN guanine nucleotide binding protein (G protein), 166 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction brush border membrane|heterotrimeric G-protein complex|melanosome D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding 0 TGAAATTCTCGACGCCGGTCA 0.333 NA 21 95 0 0 0.010504 0 0 AXIN2 8313 broad.mit.edu 37 17 63554271 63554271 + Nonsense_Mutation SNP G G T rs62640025 TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:63554271G>T uc002jfi.2 - 2 757 c.468C>A c.(466-468)TAC>TAA p.Y156* AXIN2_uc010den.1_Nonsense_Mutation_p.Y156*|AXIN2_uc002jfh.2_Nonsense_Mutation_p.Y156*|AXIN2_uc002jfj.1_Nonsense_Mutation_p.Y156* NM_004655 NP_004646 Q9Y2T1 AXIN2_HUMAN axin 2 156 RGS. cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding central_nervous_system(1)|skin(1) 2 CATCTCTTATGTAGGTCTTGG 0.468 NA Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome 77 128 4.78148e-37 7.89695e-37 0.00361 1 0 PRKCA 5578 broad.mit.edu 37 17 64684432 64684432 + Silent SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:64684432T>C uc002jfp.1 + 7 743 c.699T>C c.(697-699)CCT>CCC p.P233P PRKCA_uc002jfo.1_Silent_p.P104P NM_002737 NP_002728 P17252 KPCA_HUMAN protein kinase C, alpha 233 C2. activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding central_nervous_system(4)|large_intestine(1)|stomach(1)|lung(1)|breast(1)|ovary(1) 9 BRCA - Breast invasive adenocarcinoma(6;4.68e-09) Phosphatidylserine(DB00144)|Vitamin E(DB00163) AATTGAAACCTTCAGACAAAG 0.443 NA 20 137 0 0 0.010504 0 0 ABCA10 10349 broad.mit.edu 37 17 67178860 67178860 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:67178860C>A uc010dfa.1 - 22 3466 c.2587G>T c.(2587-2589)GAT>TAT p.D863Y ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Missense_Mutation_p.D464Y NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A, member 10 863 transport integral to membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;6.95e-12) TAGGAGGGATCATCTGAGCCA 0.353 NA 39 241 5.73237e-09 7.46468e-09 0.00623 1 0 CD300LF 146722 broad.mit.edu 37 17 72700714 72700714 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:72700714C>T uc002jlg.2 - 2 388 c.285G>A c.(283-285)ATG>ATA p.M95I RAB37_uc002jlc.2_Intron|RAB37_uc010dfu.2_Intron|RAB37_uc002jld.2_Intron|CD300LF_uc002jlf.2_Missense_Mutation_p.M98I|CD300LF_uc010dfw.2_RNA|CD300LF_uc002jlh.2_Missense_Mutation_p.M95I|CD300LF_uc002jli.2_Missense_Mutation_p.M98I|CD300LF_uc010wra.1_Missense_Mutation_p.M95I|CD300LF_uc002jlj.1_Missense_Mutation_p.M98I NM_139018 NP_620587 Q8TDQ1 CLM1_HUMAN NK inhibitory receptor precursor 95 Ig-like V-type.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity upper_aerodigestive_tract(1) 1 TGAGATCCTCCATGGTCACAG 0.483 NA 57 277 0 0 0.00361 0 0 GRB2 2885 broad.mit.edu 37 17 73317748 73317748 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:73317748C>A uc002jnx.3 - 5 817 c.460G>T c.(460-462)GTG>TTG p.V154L GRB2_uc002jny.3_Missense_Mutation_p.V113L NM_002086 NP_002077 P62993 GRB2_HUMAN growth factor receptor-bound protein 2 isoform 154 axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation cytosol|Golgi apparatus epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity ovary(3) 3 all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222) all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185) Pegademase bovine(DB00061) ACCTGTGGCACCTGTTCTATG 0.478 NA 13 96 1.3612e-06 1.64594e-06 0.003163 1 0 GALR2 8811 broad.mit.edu 37 17 74071267 74071267 + Silent SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:74071267G>T uc002jqm.1 + 1 384 c.303G>T c.(301-303)GTG>GTT p.V101V SRP68_uc010wsu.1_5'Flank|SRP68_uc002jqk.1_5'Flank|SRP68_uc002jql.1_5'Flank NM_003857 NP_003848 O43603 GALR2_HUMAN galanin receptor 2 101 Helical; Name=3; (Potential). digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction integral to membrane|plasma membrane galanin receptor activity 0 GCAAGGCGGTGCACTTCCTCA 0.657 NA 37 46 5.43694e-19 8.29986e-19 0.005524 1 0 SEC14L1 6397 broad.mit.edu 37 17 75196633 75196633 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:75196633A>G uc002jto.2 + 9 1154 c.887A>G c.(886-888)GAG>GGG p.E296G SEC14L1_uc010dhc.2_Missense_Mutation_p.E296G|SEC14L1_uc010wth.1_Missense_Mutation_p.E296G|SEC14L1_uc002jtm.2_Missense_Mutation_p.E296G|SEC14L1_uc010wti.1_Missense_Mutation_p.E262G NM_003003 NP_002994 Q92503 S14L1_HUMAN SEC14 (S. cerevisiae)-like 1 isoform a 296 transport Golgi apparatus|integral to membrane binding ovary(2) 2 AAAGCCAGAGAGATCATGTGT 0.433 NA 12 292 0 0 0.00245 0 0 P4HB 5034 broad.mit.edu 37 17 79817264 79817264 + Splice_Site SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:79817264C>A uc002kbn.1 - 2 343 c.146_splice c.e2-1 p.Y49_splice P4HB_uc002kbm.1_Splice_Site NM_000918 NP_000909 P07237 PDIA1_HUMAN prolyl 4-hydroxylase, beta subunit precursor cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509) CAAGGGGCATCTGGAAGCGGA 0.542 Colon(49;444 983 1296 7887 42561) NA 21 105 1.2644e-06 1.53281e-06 0.010504 1 0 EPB41L3 23136 broad.mit.edu 37 18 5397266 5397266 + Missense_Mutation SNP C C A rs140662824 TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr18:5397266C>A uc002kmt.1 - 18 2718 c.2632G>T c.(2632-2634)GGG>TGG p.G878W EPB41L3_uc010wzh.1_Missense_Mutation_p.G709W|EPB41L3_uc002kmu.1_Missense_Mutation_p.G656W|EPB41L3_uc010dkq.1_Missense_Mutation_p.G547W|EPB41L3_uc002kms.1_Missense_Mutation_p.G113W|EPB41L3_uc010wze.1_Missense_Mutation_p.G183W|EPB41L3_uc010wzf.1_Missense_Mutation_p.G175W|EPB41L3_uc010wzg.1_Missense_Mutation_p.G150W|EPB41L3_uc010dkr.2_Missense_Mutation_p.G270W NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 878 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 GCAGCATCCCCGCTGTCTCCC 0.617 NA 16 80 1.67942e-08 2.16023e-08 0.006122 1 0 EPB41L3 23136 broad.mit.edu 37 18 5489113 5489113 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr18:5489113C>A uc002kmt.1 - 2 156 c.70G>T c.(70-72)GGG>TGG p.G24W EPB41L3_uc010wzh.1_Missense_Mutation_p.G24W|EPB41L3_uc002kmu.1_Missense_Mutation_p.G24W|EPB41L3_uc010dkq.1_5'UTR|EPB41L3_uc010dks.1_Missense_Mutation_p.G46W|EPB41L3_uc002kmv.1_5'UTR NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 24 cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 ccctgcgcccccgccgccTCC 0.522 NA 12 21 9.16793e-09 1.18248e-08 0.00499 1 0 ROCK1 6093 broad.mit.edu 37 18 18586524 18586524 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr18:18586524G>A uc002kte.2 - 16 2614 c.1673C>T c.(1672-1674)TCG>TTG p.S558L NM_005406 NP_005397 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein 558 Interaction with FHOD1.|Potential. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity lung(2)|breast(2)|central_nervous_system(1) 5 Melanoma(1;0.165) AGCTGTGTCCGATTCTGTCCT 0.358 NA 4 146 0 0 0.009096 0 0 CABLES1 91768 broad.mit.edu 37 18 20716572 20716572 + Splice_Site SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr18:20716572G>T uc002kuc.2 + 1 845 c.845_splice c.e1+1 p.R282_splice CABLES1_uc002kub.2_Intron NM_001100619 NP_001094089 Q8TDN4 CABL1_HUMAN Cdk5 and Abl enzyme substrate 1 isoform 2 blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division cytosol|nucleus cyclin-dependent protein kinase regulator activity|protein binding breast(1) 1 all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127) AGAGGTCCCGGTGAGTATCCG 0.692 NA 5 16 1.23904e-05 1.44656e-05 0.000602 1 0 CELF4 56853 broad.mit.edu 37 18 34854358 34854359 + Missense_Mutation DNP CC CC AA TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr18:34854358_34854359CC>AA uc002lae.2 - 6 1112_1113 c.716_717GG>TT c.(715-717)CGG>CTT p.R239L CELF4_uc010dnd.1_Missense_Mutation_p.R238L|CELF4_uc002lag.2_Missense_Mutation_p.R229L|CELF4_uc002laf.2_Missense_Mutation_p.R234L|CELF4_uc002lai.2_Missense_Mutation_p.R224L|CELF4_uc002lah.1_5'Flank|CELF4_uc002laj.1_Missense_Mutation_p.A75S NM_020180 NP_064565 Q9BZC1 CELF4_HUMAN bruno-like 4, RNA binding protein isoform 1 239 Sufficient for RNA-binding and MSE- dependent splicing activity.|Necessary for TNNT2 exon 5 inclusion. embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding ovary(2) 2 GCTGCATTCGCCGCATCGTGCG 0.673 NA 6 132 0 0 0.004672 0 0 PSTPIP2 9050 broad.mit.edu 37 18 43619913 43619913 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr18:43619913C>A uc002lbp.3 - 2 230 c.134G>T c.(133-135)AGG>ATG p.R45M PSTPIP2_uc002lbq.3_Missense_Mutation_p.R45M NM_024430 NP_077748 Q9H939 PPIP2_HUMAN proline-serine-threonine phosphatase interacting 45 FCH. membrane ovary(1) 1 ATCATCGTACCTTTCTTTTAG 0.428 NA 24 171 2.44723e-14 3.56919e-14 0.004656 1 0 DCC 1630 broad.mit.edu 37 18 50705378 50705378 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr18:50705378G>T uc002lfe.1 + 9 2052 c.1465G>T c.(1465-1467)GTG>TTG p.V489L DCC_uc010xdr.1_Missense_Mutation_p.V337L|DCC_uc010dpf.1_Missense_Mutation_p.V144L NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 489 Extracellular (Potential).|Fibronectin type-III 1. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TCAGCTCACTGTGGGAAACCT 0.478 NA 14 58 0.00316338 0.00337712 0.003163 1 0 WDR7 23335 broad.mit.edu 37 18 54547264 54547264 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr18:54547264G>C uc002lgk.1 + 21 3605 c.3394G>C c.(3394-3396)GTA>CTA p.V1132L WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.V1099L NM_015285 NP_056100 Q9Y4E6 WDR7_HUMAN rabconnectin-3 beta isoform 1 1132 ovary(2)|skin(1) 3 Lung(128;0.0238)|Colorectal(16;0.0296) TTTACTTGGAGTAATAGGAGC 0.423 NA 15 82 0 0 0.004007 0 0 VPS4B 9525 broad.mit.edu 37 18 61077680 61077680 + Splice_Site SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr18:61077680C>G uc002lix.2 - 3 400 c.140_splice c.e3-1 p.Y47_splice VPS4B_uc010dpx.2_Splice_Site_p.Y47_splice|VPS4B_uc010dpy.2_Splice_Site|VPS4B_uc010dpz.1_Splice_Site NM_004869 NP_004860 O75351 VPS4B_HUMAN vacuolar protein sorting factor 4B cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane ATP binding|ATPase activity, coupled|protein C-terminus binding ovary(1) 1 TGTGCTTCATCTATTAAAGGG 0.318 NA 10 190 0 0 0.000978 0 0 SERPINB10 5273 broad.mit.edu 37 18 61587111 61587111 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr18:61587111C>T uc010xev.1 + 5 552 c.462C>T c.(460-462)ATC>ATT p.I154I SERPINB10_uc010xew.1_Silent_p.I154I NM_005024 NP_005015 P48595 SPB10_HUMAN serine (or cysteine) proteinase inhibitor, clade 154 cytoplasm|nucleus serine-type endopeptidase inhibitor activity lung(1)|kidney(1)|skin(1) 3 Esophageal squamous(42;0.131) GAAAGGACATCAACTCTTGGG 0.393 NA 13 95 0 0 0.001368 0 0 STK11 6794 broad.mit.edu 37 19 1219359 1219360 + Nonsense_Mutation DNP GG GG TT TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:1219359_1219360GG>TT uc002lrl.1 + 3 1526_1527 c.411_412GG>TT c.(409-414)CAGGAA>CATTAA p.137_138QE>H* NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 137_138 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(19)|p.E98_G155del(3)|p.?(2)|p.G52_P179del(1)|p.Q137*(1) lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1) 266 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) GTGGCATGCAGGAAATGCTGGA 0.703 14 D|Mis|N|F|S NSCLC|pancreatic jejunal harmartoma|ovarian|testicular|pancreatic Peutz-Jeghers_syndrome TSP Lung(3;<1E-08) 7 3 0 0 0.004672 0 0 C19orf29 58509 broad.mit.edu 37 19 3624101 3624101 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:3624101C>G uc002lyh.2 - 2 280 c.227G>C c.(226-228)CGG>CCG p.R76P C19orf29_uc002lyi.3_Missense_Mutation_p.R76P|C19orf29_uc010dto.2_RNA NM_001080543 NP_001074012 Q8WUQ7 CS029_HUMAN chromosome 19 open reading frame 29 76 catalytic step 2 spliceosome protein binding 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) CCACTTGGGCCGCGGGGGGCT 0.677 NA 4 167 0 0 0.001168 0 0 NDUFA11 126328 broad.mit.edu 37 19 5896936 5896936 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:5896936C>T uc002mdq.1 - 2 476 c.170G>A c.(169-171)GGA>GAA p.G57E FUT5_uc010duo.2_5'UTR|NDUFA11_uc002mdp.1_Missense_Mutation_p.G57E|NDUFA11_uc002mdr.1_RNA NM_175614 NP_783313 Q86Y39 NDUAB_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha 57 respiratory electron transport chain integral to membrane|mitochondrial respiratory chain complex I protein transporter activity central_nervous_system(1) 1 NADH(DB00157) CGTGTATTGTCCAACCTTAGC 0.612 NA 7 143 0 0 0.001984 0 0 SH2D3A 10045 broad.mit.edu 37 19 6755233 6755233 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:6755233C>T uc002mft.2 - 5 784 c.590G>A c.(589-591)AGT>AAT p.S197N SH2D3A_uc010xjg.1_Missense_Mutation_p.S75N NM_005490 NP_005481 Q9BRG2 SH23A_HUMAN SH2 domain containing 3A 197 JNK cascade|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(2) 2 GGCCCTGAGACTGTCGGCAAC 0.637 NA 37 121 0 0 0.005524 0 0 ELAVL1 1994 broad.mit.edu 37 19 8038675 8038675 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:8038675C>G uc002mjb.2 - 4 531 c.364G>C c.(364-366)GTA>CTA p.V122L NM_001419 NP_001410 Q15717 ELAV1_HUMAN ELAV-like 1 122 RRM 2. 3'-UTR-mediated mRNA stabilization|multicellular organismal development cytoplasm|nucleoplasm identical protein binding|mRNA binding|nucleotide binding 0 ATGTCTTCTACGTCCTTCTGG 0.592 NA 15 50 0 0 0.003163 0 0 SMARCA4 6597 broad.mit.edu 37 19 11138617 11138617 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:11138617A>G uc002mqf.3 + 24 3657 c.3373A>G c.(3373-3375)AGG>GGG p.R1125G SMARCA4_uc010dxp.2_Missense_Mutation_p.R1125G|SMARCA4_uc010dxo.2_Missense_Mutation_p.R1125G|SMARCA4_uc002mqg.1_Missense_Mutation_p.R1125G|SMARCA4_uc010dxq.2_Missense_Mutation_p.R1125G|SMARCA4_uc010dxr.2_Missense_Mutation_p.R1125G|SMARCA4_uc002mqj.3_Missense_Mutation_p.R1125G|SMARCA4_uc010dxs.2_Missense_Mutation_p.R1125G|SMARCA4_uc010dxt.1_Missense_Mutation_p.R345G|SMARCA4_uc002mqh.3_Missense_Mutation_p.R248G|SMARCA4_uc002mqi.1_Missense_Mutation_p.R328G NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated 1125 Helicase C-terminal. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(2) lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1) 67 all_lung(6;0.0512)|Lung NSC(9;0.0568) TAAATACCTCAGGCTTGATGG 0.507 NA F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome 48 172 0 0 0.00361 0 0 SMARCA4 6597 broad.mit.edu 37 19 11144113 11144113 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:11144113G>A uc002mqf.3 + 26 3978 c.3694G>A c.(3694-3696)GGC>AGC p.G1232S SMARCA4_uc010dxp.2_Missense_Mutation_p.G1232S|SMARCA4_uc010dxo.2_Missense_Mutation_p.G1232S|SMARCA4_uc010dxq.2_Missense_Mutation_p.G1232S|SMARCA4_uc010dxr.2_Missense_Mutation_p.G1232S|SMARCA4_uc002mqj.3_Missense_Mutation_p.G1232S|SMARCA4_uc010dxs.2_Missense_Mutation_p.G1232S|SMARCA4_uc010dxt.1_Missense_Mutation_p.G452S|SMARCA4_uc002mqh.3_Missense_Mutation_p.G355S|SMARCA4_uc002mqi.1_Missense_Mutation_p.G435S NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated 1232 Helicase C-terminal. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.G1232D(1) lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1) 67 all_lung(6;0.0512)|Lung NSC(9;0.0568) GATCCAGGCCGGCATGTTCGA 0.637 NA F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome 16 77 0 0 0.00499 0 0 OR7A10 390892 broad.mit.edu 37 19 14952213 14952213 + Silent SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:14952213T>C uc002mzx.1 - 1 477 c.477A>G c.(475-477)CAA>CAG p.Q159Q NM_001005190 NP_001005190 O76100 OR7AA_HUMAN olfactory receptor, family 7, subfamily A, 159 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Ovarian(108;0.203) CCATTAAGCTTTGTAACATGG 0.453 NA 47 67 0 0 0.00361 0 0 EPS15L1 58513 broad.mit.edu 37 19 16503150 16503150 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:16503150C>A uc002ndz.1 - 19 2074 c.2068G>T c.(2068-2070)GAT>TAT p.D690Y EPS15L1_uc002ndx.2_Missense_Mutation_p.D690Y|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Missense_Mutation_p.D580Y|EPS15L1_uc010xpf.1_Missense_Mutation_p.D593Y|EPS15L1_uc002nea.1_Missense_Mutation_p.D690Y|EPS15L1_uc010eah.1_Missense_Mutation_p.D692Y NM_021235 NP_067058 Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway 690 9.|15 X 3 AA repeats of D-P-F. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding ovary(3)|skin(2) 5 GTGAATGGATCCGAGGTAAAT 0.532 NA 18 55 9.16793e-09 1.18248e-08 0.00499 1 0 EPS15L1 58513 broad.mit.edu 37 19 16535930 16535930 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:16535930C>A uc002ndz.1 - 9 762 c.756G>T c.(754-756)GGG>GGT p.G252G EPS15L1_uc002ndx.2_Silent_p.G252G|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Silent_p.G142G|EPS15L1_uc010xpf.1_Silent_p.G155G|EPS15L1_uc002nea.1_Silent_p.G252G|EPS15L1_uc010eah.1_Silent_p.G252G|EPS15L1_uc002neb.1_Silent_p.G98G|EPS15L1_uc002nec.1_Silent_p.G252G NM_021235 NP_067058 Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway 252 endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding ovary(3)|skin(2) 5 GGGACAGGCTCCCTGTGCTGT 0.657 NA 21 32 1.57351e-24 2.52829e-24 0.003755 1 0 SIN3B 23309 broad.mit.edu 37 19 16973310 16973310 + Silent SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:16973310G>T uc002ney.1 + 9 1220 c.1206G>T c.(1204-1206)CGG>CGT p.R402R SIN3B_uc002nex.2_Silent_p.R334R|SIN3B_uc002nez.1_Silent_p.R402R|SIN3B_uc010xpi.1_5'Flank NM_015260 NP_056075 O75182 SIN3B_HUMAN SIN3 homolog B, transcription regulator 402 Interaction with SDS3 and HDAC1 (By similarity).|Interaction with NCOR1 (By similarity). cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm protein binding ovary(2) 2 CCAGCTACCGGGCACTCCCCA 0.582 NA 9 29 0.000442599 0.000491316 0.006214 1 0 MAST3 23031 broad.mit.edu 37 19 18245766 18245766 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:18245766A>T uc002nhz.3 + 16 1757 c.1757A>T c.(1756-1758)GAG>GTG p.E586V NM_015016 NP_055831 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 586 Protein kinase. ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity large_intestine(2)|ovary(2)|stomach(1) 5 GATACCCCCGAGGAACTCTTC 0.632 NA 8 72 0 0 0.006214 0 0 FKBP8 23770 broad.mit.edu 37 19 18649233 18649233 + Missense_Mutation SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:18649233T>C uc002njk.1 - 5 675 c.562A>G c.(562-564)ATC>GTC p.I188V FKBP8_uc002nji.1_Missense_Mutation_p.I26V|FKBP8_uc010xqi.1_Missense_Mutation_p.I217V|FKBP8_uc002njj.1_Missense_Mutation_p.I189V|FKBP8_uc002njl.1_Missense_Mutation_p.I189V|FKBP8_uc002njm.1_Missense_Mutation_p.I188V|FKBP8_uc010ebr.1_Missense_Mutation_p.I27V|FKBP8_uc002njn.2_RNA NM_012181 NP_036313 Q14318 FKBP8_HUMAN FK506-binding protein 8 188 PPIase FKBP-type. apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding integral to endoplasmic reticulum membrane|mitochondrial membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding ovary(1) 1 TGCGGGGGGATGTATGGGCTC 0.677 NA 4 24 0 0 0.000602 0 0 SF4 57794 broad.mit.edu 37 19 19389590 19389590 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:19389590A>G uc002nmh.2 - 11 1546 c.1544T>C c.(1543-1545)CTG>CCG p.L515P SF4_uc002nmf.2_Missense_Mutation_p.L65P|SF4_uc002nmg.2_Missense_Mutation_p.L65P|SF4_uc002nmi.2_Missense_Mutation_p.L305P|SF4_uc002nmj.2_Missense_Mutation_p.L305P|SF4_uc002nme.2_Missense_Mutation_p.L65P NM_172231 NP_757386 Q8IWZ8 SUGP1_HUMAN splicing factor 4 515 nuclear mRNA splicing, via spliceosome nucleoplasm|spliceosomal complex RNA binding 0 CATCTTTGTCAGCTGCTCGGC 0.582 NA 11 15 0 0 0.008291 0 0 ZNF253 56242 broad.mit.edu 37 19 20003499 20003499 + Silent SNP A A C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:20003499A>C uc002noj.2 + 4 1535 c.1443A>C c.(1441-1443)ATA>ATC p.I481I ZNF253_uc002nok.2_Silent_p.I405I|ZNF253_uc002nol.2_RNA NM_021047 NP_066385 O75346 ZN253_HUMAN zinc finger protein 253 481 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AACCCTACATAGTGAAGAATG 0.338 NA 4 78 0 0 0.009096 0 0 ZNF737 100129842 broad.mit.edu 37 19 20736525 20736525 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:20736525C>A uc002npa.2 - 2 300 c.120G>T c.(118-120)CTG>CTT p.L40L NM_001159293 NP_001152765 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 40 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding ovary(1) 1 CAAGGAAGACCAGGTTTCTGT 0.348 NA 13 74 9.31168e-06 1.09522e-05 0.001855 1 0 ZNF85 7639 broad.mit.edu 37 19 21116875 21116875 + Nonsense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:21116875G>T uc002npg.3 + 2 176 c.49G>T c.(49-51)GAG>TAG p.E17* ZNF85_uc002npf.2_RNA|ZNF85_uc002nph.1_RNA|ZNF85_uc010ecn.2_5'UTR|ZNF85_uc010eco.2_5'Flank|ZNF85_uc002npi.2_5'Flank NM_003429 NP_003420 Q03923 ZNF85_HUMAN zinc finger protein 85 17 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1) 1 CTCTCTGAAGGAGTGGCAATG 0.333 NA 25 128 1.17739e-12 1.67845e-12 0.005443 1 0 ZNF208 7757 broad.mit.edu 37 19 22155159 22155159 + Nonsense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:22155159C>A uc002nqp.2 - 5 2526 c.2377G>T c.(2377-2379)GAA>TAA p.E793* 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) TTGCCACATTCTTCACATTTG 0.383 NA 5 75 2.0095e-06 2.40531e-06 0.001984 1 0 TSHZ3 57616 broad.mit.edu 37 19 31770490 31770490 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:31770490T>A uc002nsy.3 - 2 274 c.209A>T c.(208-210)CAT>CTT p.H70L NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 70 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) GTCCATTTCATGGCAGGAAAA 0.592 NA 4 29 0 0 0.001168 0 0 KIAA0355 9710 broad.mit.edu 37 19 34821190 34821190 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:34821190C>T uc002nvd.3 + 7 2060 c.1201C>T c.(1201-1203)CCT>TCT p.P401S NM_014686 NP_055501 O15063 K0355_HUMAN hypothetical protein LOC9710 401 ovary(1) 1 Esophageal squamous(110;0.162) CCAGGTTTGCCCTTCCACATG 0.527 NA 4 45 0 0 0.004482 0 0 HAMP 57817 broad.mit.edu 37 19 35775840 35775840 + Splice_Site SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:35775840G>T uc002nyw.2 + 3 222 c.151_splice c.e3-1 p.P51_splice NM_021175 NP_066998 P81172 HEPC_HUMAN hepcidin antimicrobial peptide preproprotein defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism extracellular region hormone activity central_nervous_system(1) 1 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) CCTTCCCACAGCCCATGTTCC 0.587 NA 20 195 2.4624e-09 3.24216e-09 0.008871 1 0 ZFP14 57677 broad.mit.edu 37 19 36831785 36831785 + Missense_Mutation SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:36831785T>C uc002odx.1 - 4 1036 c.943A>G c.(943-945)AAG>GAG p.K315E ZFP14_uc010xtd.1_Missense_Mutation_p.K316E|ZFP14_uc010eex.1_Missense_Mutation_p.K315E NM_020917 NP_065968 Q9HCL3 ZFP14_HUMAN zinc finger protein 14-like 315 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Esophageal squamous(110;0.162) CCACATTCCTTACATTCATAG 0.423 NA 10 152 0 0 0.001368 0 0 ZFP82 284406 broad.mit.edu 37 19 36884792 36884792 + Silent SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:36884792A>G uc002ody.1 - 5 685 c.450T>C c.(448-450)TCT>TCC p.S150S NM_133466 NP_597723 Q8N141 ZFP82_HUMAN zinc finger protein 82 homolog 150 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 GTTTCTGGTAAGAGGACACCT 0.418 NA 35 114 0 0 0.003755 0 0 ZNF585A 199704 broad.mit.edu 37 19 37643891 37643891 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:37643891C>A uc002ofo.1 - 5 1141 c.910G>T c.(910-912)GGC>TGC p.G304C ZNF585A_uc002ofm.1_Missense_Mutation_p.G249C|ZNF585A_uc002ofn.1_Missense_Mutation_p.G249C NM_199126 NP_954577 Q6P3V2 Z585A_HUMAN zinc finger protein 585A 304 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AAGGATTTGCCACAGTTACTG 0.428 NA 48 371 2.27781e-18 3.44946e-18 0.00361 1 0 ZNF607 84775 broad.mit.edu 37 19 38190487 38190487 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:38190487G>C uc002ohc.1 - 5 1141 c.545C>G c.(544-546)CCT>CGT p.P182R ZNF607_uc002ohb.1_Missense_Mutation_p.P181R NM_032689 NP_116078 Q96SK3 ZN607_HUMAN zinc finger protein 607 182 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775) AAGGTTTGCAGGATAACTGAA 0.403 NA 13 159 0 0 0.001855 0 0 PLEKHG2 64857 broad.mit.edu 37 19 39914084 39914084 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:39914084G>A uc010xuz.1 + 18 2715 c.2390G>A c.(2389-2391)GGT>GAT p.G797D PLEKHG2_uc010xuy.1_Missense_Mutation_p.G738D|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Missense_Mutation_p.G575D NM_022835 NP_073746 Q9H7P9 PKHG2_HUMAN common-site lymphoma/leukemia guanine nucleotide 797 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity skin(2)|pancreas(1)|breast(1) 4 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) TCGGATCTGGGTGGAGACAGC 0.652 NA 4 22 0 0 0.001168 0 0 TIMM50 92609 broad.mit.edu 37 19 39978750 39978750 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:39978750G>T uc002olu.1 + 9 1188 c.1055G>T c.(1054-1056)TGC>TTC p.C352F TIMM50_uc002olt.1_RNA|TIMM50_uc002olv.1_Missense_Mutation_p.C51F NM_001001563 NP_001001563 Q3ZCQ8 TIM50_HUMAN translocase of inner mitochondrial membrane 50 249 Mitochondrial intermembrane (Potential).|FCP1 homology. mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding ovary(1) 1 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) GTTGTGGACTGCAAGAAGGAA 0.562 NA 62 328 1.19553e-41 1.98835e-41 0.00361 1 0 FCGBP 8857 broad.mit.edu 37 19 40424077 40424077 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:40424077C>T uc002omp.3 - 4 2134 c.2126G>A c.(2125-2127)GGG>GAG p.G709E NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 709 extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GAGCCGCTCCCCACCGACCAC 0.632 NA 17 146 0 0 0.010504 0 0 BLVRB 645 broad.mit.edu 37 19 40957343 40957343 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:40957343C>T uc002onw.2 - 4 521 c.391G>A c.(391-393)GAC>AAC p.D131N BLVRB_uc010egw.1_RNA NM_000713 NP_000704 P30043 BLVRB_HUMAN biliverdin reductase B (flavin reductase 131 heme catabolic process cytosol biliverdin reductase activity|binding|flavin reductase activity 0 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) NADH(DB00157)|Riboflavin(DB00140) CGGATGTGGTCATCAGTCACA 0.587 NA 4 28 0 0 0.001168 0 0 TGFB1 7040 broad.mit.edu 37 19 41847787 41847787 + Splice_Site SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:41847787C>A uc002oqh.1 - 5 1727 c.860_splice c.e5+1 p.S287_splice CYP2F1_uc010xvw.1_Intron NM_000660 NP_000651 P01137 TGFB1_HUMAN transforming growth factor, beta 1 precursor active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix growth factor activity|type II transforming growth factor beta receptor binding 0 Hyaluronidase(DB00070) ACAAGGCTCACCTGAAGCAAT 0.632 NA 6 54 0.00116845 0.00127467 0.001168 1 0 PSG8 440533 broad.mit.edu 37 19 43258604 43258604 + Nonsense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:43258604G>C uc002ouo.2 - 5 1222 c.1124C>G c.(1123-1125)TCA>TGA p.S375* PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc010eim.2_RNA|PSG8_uc002oui.2_Nonsense_Mutation_p.S214*|PSG8_uc002ouh.2_Nonsense_Mutation_p.S375*|PSG8_uc010ein.2_Nonsense_Mutation_p.S253*|PSG8_uc002ouj.3_Nonsense_Mutation_p.S157*|PSG8_uc002ouk.3_Nonsense_Mutation_p.S214*|PSG8_uc002oul.3_Nonsense_Mutation_p.S375*|PSG8_uc002oum.3_Nonsense_Mutation_p.S282*|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Nonsense_Mutation_p.S282* NM_182707 NP_874366 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 isoform 375 Ig-like C2-type 3. extracellular region 0 Prostate(69;0.00899) CTTTTGTCCTGATAGCTGAAA 0.468 NA 8 464 0 0 0.00308 0 0 PSG9 5678 broad.mit.edu 37 19 43763022 43763022 + Silent SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:43763022G>T uc002owd.3 - 4 1074 c.975C>A c.(973-975)ATC>ATA p.I325I PSG9_uc002owe.3_Intron|PSG9_uc010xwm.1_Silent_p.I232I|PSG9_uc002owf.3_Intron|PSG9_uc002owg.2_Intron|PSG9_uc002owh.2_Intron NM_002784 NP_002775 Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 325 Ig-like C2-type 2. female pregnancy extracellular region ovary(1)|skin(1) 2 Prostate(69;0.00682) GGACATTTAGGATGACTGGGT 0.507 NA 21 125 8.10497e-08 1.01634e-07 0.010504 1 0 KCNN4 3783 broad.mit.edu 37 19 44273613 44273613 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:44273613G>A uc002oxl.2 - 6 1426 c.1030C>T c.(1030-1032)CTG>TTG p.L344L KCNN4_uc010eiz.2_Missense_Mutation_p.A236V NM_002250 NP_002241 O15554 KCNN4_HUMAN intermediate conductance calcium-activated 344 Calmodulin-binding. defense response voltage-gated potassium channel complex calcium-activated potassium channel activity|calmodulin binding ovary(2) 2 Prostate(69;0.0352) Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468) GCGGCCAGCAGCTTGCGCTGA 0.577 NA 5 70 0 0 0.001168 0 0 CEACAM20 125931 broad.mit.edu 37 19 45029229 45029229 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:45029229A>T uc010ejn.1 - 2 117 c.101T>A c.(100-102)CTC>CAC p.L34H CEACAM20_uc010ejo.1_Missense_Mutation_p.L34H|CEACAM20_uc010ejp.1_Missense_Mutation_p.L34H|CEACAM20_uc010ejq.1_Missense_Mutation_p.L34H NM_001102597 NP_001096067 Q6UY09 CEA20_HUMAN carcinoembryonic antigen-related cell adhesion 34 Extracellular (Potential). integral to membrane large_intestine(2) 2 Prostate(69;0.0352) GTTGGCATTGAGGGTGAGCTG 0.577 NA 15 135 0 0 0.00245 0 0 MEIS3 56917 broad.mit.edu 37 19 47920559 47920559 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:47920559G>T uc002pgu.2 - 2 508 c.61C>A c.(61-63)CTG>ATG p.L21M MEIS3_uc002pgp.2_5'Flank|MEIS3_uc002pgq.2_Missense_Mutation_p.L102M|MEIS3_uc002pgr.2_Translation_Start_Site|MEIS3_uc002pgt.2_Missense_Mutation_p.L21M|MEIS3_uc002pgv.2_Missense_Mutation_p.L21M|MEIS3_uc002pgs.2_Missense_Mutation_p.L21M|MEIS3_uc010eld.2_Missense_Mutation_p.L21M|MEIS3_uc002pgw.2_Silent_p.P133P NM_001009813 NP_001009813 Q99687 MEIS3_HUMAN Meis1, myeloid ecotropic viral integration site 21 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223) AAGCTAGCCAGGGCTGCGGGG 0.687 NA 12 77 6.94344e-10 9.32349e-10 0.006122 1 0 PLA2G4C 8605 broad.mit.edu 37 19 48558262 48558262 + Silent SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:48558262G>C uc002phx.2 - 15 1700 c.1302C>G c.(1300-1302)CCC>CCG p.P434P PLA2G4C_uc002phv.2_RNA|PLA2G4C_uc002phw.2_Silent_p.P369P|PLA2G4C_uc010elr.2_Silent_p.P434P|PLA2G4C_uc010xzd.1_Silent_p.P444P NM_003706 NP_003697 Q9UP65 PA24C_HUMAN phospholipase A2, group IVC isoform 1 precursor 434 PLA2c. arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition cytosol|membrane calcium-independent phospholipase A2 activity|phospholipid binding ovary(1)|skin(1) 2 all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717) CTTGGGGAAAGGGGATCTTGT 0.547 NA 49 63 0 0 0.00361 0 0 CYTH2 9266 broad.mit.edu 37 19 48982391 48982391 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:48982391G>T uc002pjj.3 + 13 1427 c.1127G>T c.(1126-1128)AGT>ATT p.S376I CYTH2_uc002pji.2_RNA NM_017457 NP_059431 Q99418 CYH2_HUMAN cytohesin 2 isoform 1 376 PH. actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|membrane fraction|plasma membrane ARF guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 GCGGCTGTGAGTGTGGACCCC 0.408 NA 6 175 0.00198382 0.00213469 0.001984 1 0 RASIP1 54922 broad.mit.edu 37 19 49224084 49224084 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:49224084G>A uc002pki.2 - 12 3060 c.2863C>T c.(2863-2865)CAT>TAT p.H955Y MAMSTR_uc002pkg.2_5'Flank|RASIP1_uc002pkh.2_Missense_Mutation_p.H216Y NM_017805 NP_060275 Q5U651 RAIN_HUMAN Ras-interacting protein 1 955 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) GGAGGCCCATGGCGATAATTG 0.617 NA 29 226 0 0 0.002836 0 0 FGF21 26291 broad.mit.edu 37 19 49260247 49260247 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:49260247G>T uc002pkn.1 + 3 872 c.300G>T c.(298-300)AGG>AGT p.R100S FUT1_uc002pkk.2_5'Flank|FUT1_uc002pkm.1_5'Flank|FGF21_uc002pko.1_Missense_Mutation_p.R100S NM_019113 NP_061986 Q9NSA1 FGF21_HUMAN fibroblast growth factor 21 precursor 100 cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import extracellular region|soluble fraction growth factor activity breast(1) 1 all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022) AGACATCCAGGTTCCTGTGCC 0.562 NA 7 253 1.12685e-05 1.32046e-05 0.004482 1 0 TRPM4 54795 broad.mit.edu 37 19 49671273 49671273 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:49671273G>A uc002pmw.2 + 4 439 c.367G>A c.(367-369)GGG>AGG p.G123R TRPM4_uc010emu.2_Missense_Mutation_p.G123R|TRPM4_uc010yak.1_Intron|TRPM4_uc002pmx.2_Intron|TRPM4_uc010emv.2_Intron|TRPM4_uc010yal.1_Intron NM_017636 NP_060106 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, 123 Cytoplasmic (Potential). dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding ovary(1)|central_nervous_system(1) 2 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) GTCAGTGCTGGGGGGATCGGG 0.672 NA 30 200 0 0 0.009535 0 0 CPT1C 126129 broad.mit.edu 37 19 50214055 50214055 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:50214055C>T uc002ppj.2 + 15 2012 c.1807C>T c.(1807-1809)CGG>TGG p.R603W CPT1C_uc002ppl.3_3'UTR|CPT1C_uc002ppi.2_Missense_Mutation_p.R520W|CPT1C_uc002ppk.2_Missense_Mutation_p.R592W|CPT1C_uc010eng.2_Missense_Mutation_p.R603W|CPT1C_uc010enh.2_Missense_Mutation_p.R603W|CPT1C_uc010ybc.1_3'UTR|CPT1C_uc010eni.1_Missense_Mutation_p.R260W NM_152359 NP_689572 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C isoform 2 603 Cytoplasmic (Potential). fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) GGAGACGGTGCGGTCTTGCAC 0.577 NA 4 68 0 0 0.009096 0 0 SHANK1 50944 broad.mit.edu 37 19 51217450 51217450 + Nonsense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:51217450G>T uc002psx.1 - 4 648 c.629C>A c.(628-630)TCG>TAG p.S210* NM_016148 NP_057232 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 210 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding large_intestine(2) 2 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) TCCCGAATCCGAGTCATGGTA 0.602 NA 5 48 3.59834e-05 4.13983e-05 0.001168 1 0 CLEC11A 6320 broad.mit.edu 37 19 51226833 51226833 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:51226833C>T uc002psy.2 + 1 229 c.51C>T c.(49-51)GGC>GGT p.G17G NM_002975 NP_002966 Q9Y240 CLC11_HUMAN stem cell growth factor precursor 17 positive regulation of cell proliferation cytoplasm|extracellular region growth factor activity|sugar binding ovary(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) AGCTCTTGGGCTTTGGCCATG 0.393 NA 7 93 0 0 0.00308 0 0 CEACAM18 729767 broad.mit.edu 37 19 51983903 51983903 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:51983903C>A uc002pwv.1 + 3 552 c.552C>A c.(550-552)ACC>ACA p.T184T NM_001080405 NP_001073874 A8MTB9 CEA18_HUMAN carcinoembryonic antigen-related cell adhesion 184 integral to membrane skin(1) 1 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) GCAATGAGACCCAAAGAGCAA 0.498 NA 22 113 0.000229342 0.000257602 0.001882 1 0 ZNF577 84765 broad.mit.edu 37 19 52376333 52376333 + Nonsense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:52376333C>A uc010yde.1 - 7 1301 c.910G>T c.(910-912)GGA>TGA p.G304* ZNF577_uc010ydd.1_Intron|ZNF577_uc002pxx.3_Nonsense_Mutation_p.G245*|ZNF577_uc002pxv.2_Nonsense_Mutation_p.G297*|ZNF577_uc002pxw.2_Nonsense_Mutation_p.G238* NM_032679 NP_116068 Q9BSK1 ZN577_HUMAN zinc finger protein 577 isoform a 304 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019) AAGGTTCTTCCACAATCACTG 0.438 NA 33 165 1.36161e-19 2.09208e-19 0.004289 1 0 ZNF649 65251 broad.mit.edu 37 19 52394116 52394116 + Missense_Mutation SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:52394116T>C uc002pxy.2 - 5 1541 c.1273A>G c.(1273-1275)ACG>GCG p.T425A ZNF577_uc010ydd.1_5'Flank|ZNF577_uc002pxx.3_5'Flank|ZNF577_uc002pxv.2_5'Flank|ZNF577_uc002pxw.2_5'Flank|ZNF577_uc010yde.1_5'Flank|ZNF577_uc010ydf.1_RNA NM_023074 NP_075562 Q9BS31 ZN649_HUMAN zinc finger protein 649 425 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185) CTCTCTCCCGTGTGAGTTCTG 0.428 NA 50 309 0 0 0.00361 0 0 ZNF614 80110 broad.mit.edu 37 19 52520455 52520455 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:52520455C>A uc002pyj.2 - 5 798 c.396G>T c.(394-396)TTG>TTT p.L132F ZNF614_uc002pyi.3_Missense_Mutation_p.L132F|ZNF614_uc010epj.2_5'UTR NM_025040 NP_079316 Q8N883 ZN614_HUMAN zinc finger protein 614 132 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 5 all_neural(266;0.0505) GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) TTTTTCTGTACAAGTCAAATG 0.338 NA 10 81 0.000442599 0.000491316 0.006214 1 0 ZNF701 55762 broad.mit.edu 37 19 53086276 53086276 + Nonsense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:53086276G>T uc002pzs.1 + 4 1091 c.964G>T c.(964-966)GGA>TGA p.G322* ZNF701_uc010ydn.1_Nonsense_Mutation_p.G388* NM_018260 NP_060730 Q9NV72 ZN701_HUMAN zinc finger protein 701 322 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402) AGTTCATACTGGAGAGAAACC 0.378 NSCLC(89;451 1475 9611 20673 52284) NA 4 121 0.00909568 0.00959144 0.009096 1 0 ZNF415 55786 broad.mit.edu 37 19 53612346 53612346 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:53612346G>T uc002qax.2 - 7 1445 c.1096C>A c.(1096-1098)CAT>AAT p.H366N ZNF415_uc002qat.2_Missense_Mutation_p.H330N|ZNF415_uc002qaw.2_Missense_Mutation_p.H318N|ZNF415_uc010yds.1_Missense_Mutation_p.H318N|ZNF415_uc010ydt.1_Missense_Mutation_p.H318N|ZNF415_uc002qau.2_Missense_Mutation_p.H305N|ZNF415_uc002qav.2_Missense_Mutation_p.H330N|ZNF415_uc002qba.2_Missense_Mutation_p.H88N|ZNF415_uc002qay.2_Missense_Mutation_p.H305N|ZNF415_uc002qaz.2_Missense_Mutation_p.H366N NR_028343 Q09FC8 ZN415_HUMAN RecName: Full=Zinc finger protein 415; 366 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleolus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.0191) GTTTTCTGATGTAGTGCAAGG 0.418 NA 9 93 0.00448238 0.00477449 0.004482 1 0 VN1R4 317703 broad.mit.edu 37 19 53770147 53770147 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:53770147G>T uc010ydu.1 - 1 772 c.772C>A c.(772-774)CTT>ATT p.L258I NM_173857 NP_776256 Q7Z5H5 VN1R4_HUMAN vomeronasal 1 receptor 4 258 Extracellular (Potential). response to pheromone actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane pheromone receptor activity ovary(2) 2 GBM - Glioblastoma multiforme(134;0.00294) TTATCCAAAAGAGCCATACAA 0.478 NA HNSCC(26;0.072) 21 48 2.89027e-11 4.01756e-11 0.002299 1 0 CACNG7 59284 broad.mit.edu 37 19 54444824 54444824 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:54444824C>T uc002qcr.1 + 4 540 c.525C>T c.(523-525)TAC>TAT p.Y175Y CACNG7_uc010era.1_Silent_p.Y175Y NM_031896 NP_114102 P62955 CCG7_HUMAN voltage-dependent calcium channel gamma-7 175 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(1) 1 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0711) ATTATCGCTACGGGTGGTCTT 0.537 NA 27 165 0 0 0.00632 0 0 SYT5 6861 broad.mit.edu 37 19 55687098 55687098 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:55687098A>T uc002qjm.1 - 4 1579 c.519T>A c.(517-519)TTT>TTA p.F173L SYT5_uc002qjp.2_Missense_Mutation_p.F170L|SYT5_uc002qjn.1_Missense_Mutation_p.F173L|SYT5_uc002qjo.1_Missense_Mutation_p.F173L NM_003180 NP_003171 O00445 SYT5_HUMAN synaptotagmin V 173 Cytoplasmic (Potential).|C2 1. energy reserve metabolic process|regulation of insulin secretion|synaptic transmission cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane metal ion binding|transporter activity 0 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) AGGTCTCCCCAAAGTGAGGGT 0.622 NA 15 110 0 0 0.003163 0 0 SYT5 6861 broad.mit.edu 37 19 55689649 55689649 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:55689649C>T uc002qjm.1 - 2 1227 c.167G>A c.(166-168)CGG>CAG p.R56Q SYT5_uc002qjp.2_Intron|SYT5_uc002qjn.1_Missense_Mutation_p.R56Q|SYT5_uc002qjo.1_Missense_Mutation_p.R56Q NM_003180 NP_003171 O00445 SYT5_HUMAN synaptotagmin V 56 Cytoplasmic (Potential). energy reserve metabolic process|regulation of insulin secretion|synaptic transmission cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane metal ion binding|transporter activity 0 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) TGTCCGCCTCCGACAGCTCTT 0.627 NA 11 9 0 0 0.001368 0 0 BRSK1 84446 broad.mit.edu 37 19 55817686 55817686 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:55817686G>T uc002qkg.2 + 17 2234 c.1957G>T c.(1957-1959)GGC>TGC p.G653C BRSK1_uc002qkf.2_Missense_Mutation_p.G669C|BRSK1_uc002qkh.2_Missense_Mutation_p.G348C NM_032430 NP_115806 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 653 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) GGCCAGTGGCGGCCCCTCCGT 0.652 NA 31 31 1.04594e-18 1.59157e-18 0.00623 1 0 NLRP11 204801 broad.mit.edu 37 19 56303674 56303674 + Nonsense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:56303674C>A uc010ygf.1 - 9 3217 c.2506G>T c.(2506-2508)GAG>TAG p.E836* NLRP11_uc002qlz.2_Nonsense_Mutation_p.E683*|NLRP11_uc002qmb.2_Nonsense_Mutation_p.E737*|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA NM_145007 NP_659444 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 836 ATP binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) TACTGAAGCTCCTCTAACTGA 0.483 NA 69 84 8.13855e-26 1.32112e-25 0.00361 1 0 ZNF71 58491 broad.mit.edu 37 19 57132930 57132930 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:57132930G>T uc002qnm.3 + 3 513 c.275G>T c.(274-276)CGG>CTG p.R92L NM_021216 NP_067039 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 92 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) GTCCCACCACGGCTGGACGAC 0.587 NA 22 33 9.62636e-23 1.53117e-22 0.002299 1 0 USP29 57663 broad.mit.edu 37 19 57640419 57640419 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:57640419C>A uc002qny.2 + 4 732 c.376C>A c.(376-378)CTG>ATG p.L126M NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 126 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(6)|ovary(2)|breast(2)|pancreas(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CAGGAATATGCTGAAGGAAAT 0.348 NA 14 107 2.23348e-06 2.66668e-06 0.004007 1 0 ZNF543 125919 broad.mit.edu 37 19 57839579 57839579 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:57839579C>A uc002qoi.1 + 4 1094 c.749C>A c.(748-750)ACT>AAT p.T250N NM_213598 NP_998763 Q08ER8 ZN543_HUMAN zinc finger protein 543 250 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1)|pancreas(1) 2 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;0.0257) ATCATCCACACTGGGGAGAAG 0.502 NA 19 95 3.99206e-14 5.8044e-14 0.007413 1 0 ZNF543 125919 broad.mit.edu 37 19 57839594 57839594 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:57839594A>G uc002qoi.1 + 4 1109 c.764A>G c.(763-765)TAT>TGT p.Y255C NM_213598 NP_998763 Q08ER8 ZN543_HUMAN zinc finger protein 543 255 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1)|pancreas(1) 2 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;0.0257) GAGAAGCCCTATAAGTGCATG 0.498 NA 3 101 0 0 0.004672 0 0 ZNF8 7554 broad.mit.edu 37 19 58805952 58805952 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:58805952A>G uc002qry.1 + 4 908 c.778A>G c.(778-780)ACT>GCT p.T260A ZNF8_uc002qrz.2_RNA NM_021089 NP_066575 P17098 ZNF8_HUMAN zinc finger protein 8 260 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619) CTACAAATGTACTGACTGTGG 0.483 NA 13 42 0 0 0.00245 0 0 SLC27A5 10998 broad.mit.edu 37 19 59021298 59021298 + Missense_Mutation SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:59021298T>C uc002qtc.2 - 3 1083 c.973A>G c.(973-975)ACA>GCA p.T325A NM_012254 NP_036386 Q9Y2P5 S27A5_HUMAN solute carrier family 27 (fatty acid 325 Cytoplasmic (Probable). bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process endoplasmic reticulum membrane|integral to membrane ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity 0 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181) TCATCAGCTGTGGCCCCAGAT 0.567 NA 31 37 0 0 0.002836 0 0 KCNS3 3790 broad.mit.edu 37 2 18112296 18112296 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:18112296C>T uc002rcv.2 + 3 472 c.21C>T c.(19-21)TTC>TTT p.F7F KCNS3_uc002rcw.2_Silent_p.F7F NM_002252 NP_002243 Q9BQ31 KCNS3_HUMAN potassium voltage-gated channel 7 Cytoplasmic (Potential). energy reserve metabolic process|regulation of insulin secretion Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity ovary(4) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GTGAGTTTTTCCATCGCCCTG 0.527 NA 33 69 0 0 0.005524 0 0 APOB 338 broad.mit.edu 37 2 21227177 21227177 + Silent SNP G G A rs12713501 byFrequency TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:21227177G>A uc002red.2 - 28 12179 c.12051C>T c.(12049-12051)GAC>GAT p.D4017D NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 4017 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TAGAAAAGTCGTCATCTTCAT 0.512 NA 25 64 0 0 0.007291 0 0 APOB 338 broad.mit.edu 37 2 21233898 21233898 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:21233898C>A uc002red.2 - 26 5970 c.5842G>T c.(5842-5844)GGC>TGC p.G1948C NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 1948 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CTTGTGGAGCCTTTGTAATCA 0.483 NA 10 309 2.74318e-10 3.74717e-10 0.006214 1 0 PPM1G 5496 broad.mit.edu 37 2 27608704 27608704 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:27608704T>A uc002rkl.2 - 5 426 c.319A>T c.(319-321)ACT>TCT p.T107S PPM1G_uc002rkm.2_5'UTR NM_002707 NP_002698 O15355 PPM1G_HUMAN protein phosphatase 1G 107 cell cycle arrest|protein dephosphorylation cytoplasm|nucleus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity ovary(1) 1 Acute lymphoblastic leukemia(172;0.155) ACTTCTTCAGTGGTCAATTTG 0.408 NA 12 69 0 0 0.000978 0 0 ALK 238 broad.mit.edu 37 2 29917880 29917881 + Splice_Site DNP CC CC AT TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:29917880_29917881CC>AT uc002rmy.2 - 3 1695 c.788_splice c.e3-1 p.G263_splice NM_004304 NP_004295 Q9UM73 ALK_HUMAN anaplastic lymphoma kinase precursor protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2) haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1) 1218 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) GCACTCCAGACCTGCAATAATA 0.554 NA T|Mis|A NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4 ALCL|NSCLC|Neuroblastoma neuroblastoma Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome 23 84 0 0 0.004672 0 0 SLC8A1 6546 broad.mit.edu 37 2 40657101 40657101 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:40657101G>A uc002rrx.2 - 1 344 c.320C>T c.(319-321)ACA>ATA p.T107I SLC8A1_uc002rry.2_Missense_Mutation_p.T107I|SLC8A1_uc002rrz.2_Missense_Mutation_p.T107I|SLC8A1_uc002rsa.2_Missense_Mutation_p.T107I|SLC8A1_uc002rsd.3_Missense_Mutation_p.T107I|SLC8A1_uc002rsb.1_Missense_Mutation_p.T107I|SLC8A1_uc010fan.1_Missense_Mutation_p.T107I|SLC8A1_uc002rsc.1_Missense_Mutation_p.T107I NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 107 Cytoplasmic (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) TTCTTGAGATGTGATGACTTC 0.398 NA 31 187 0 0 0.008361 0 0 NRXN1 9378 broad.mit.edu 37 2 50765619 50765619 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:50765619C>T uc010fbq.2 - 10 3512 c.2035G>A c.(2035-2037)GGC>AGC p.G679S NRXN1_uc002rxb.3_Missense_Mutation_p.G311S|NRXN1_uc002rxe.3_Missense_Mutation_p.G639S|NRXN1_uc002rxc.1_RNA NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor Error:Variant_position_missing_in_P58400_after_alignment angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CCCACGTAGCCATAGTTGAGC 0.522 NA 51 177 0 0 0.00361 0 0 BCL11A 53335 broad.mit.edu 37 2 60687791 60687791 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:60687791C>T uc002sae.1 - 4 2484 c.2256G>A c.(2254-2256)AAG>AAA p.K752K BCL11A_uc002sab.2_Intron|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Intron|BCL11A_uc010ypj.1_Silent_p.K718K|BCL11A_uc002sad.1_Silent_p.K600K|BCL11A_uc002saf.1_Silent_p.K718K NM_022893 NP_075044 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A isoform 1 752 C2H2-type 4. negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|cytoplasm|nucleus|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding central_nervous_system(6)|breast(3)|ovary(2)|skin(2) 13 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) TGCTACAGTTCTTGAAGACTT 0.562 NA T IGH@ B-CLL 50 96 0 0 0.00361 0 0 OTX1 5013 broad.mit.edu 37 2 63283009 63283009 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:63283009G>A uc002scd.2 + 5 871 c.623G>A c.(622-624)CGC>CAC p.R208H OTX1_uc010ypt.1_Missense_Mutation_p.R142H NM_014562 NP_055377 P32242 OTX1_HUMAN orthodenticle homeobox 1 208 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity pancreas(2) 2 Lung NSC(7;0.121)|all_lung(7;0.211) TGTATGCAGCGCTCCGTAGCT 0.682 NA 3 7 0 0 0.004672 0 0 DYSF 8291 broad.mit.edu 37 2 71766288 71766288 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:71766288G>T uc002sie.2 + 16 1775 c.1399G>T c.(1399-1401)GAC>TAC p.D467Y DYSF_uc010feg.2_Missense_Mutation_p.D498Y|DYSF_uc010feh.2_Missense_Mutation_p.D467Y|DYSF_uc002sig.3_Missense_Mutation_p.D467Y|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.D467Y|DYSF_uc010fef.2_Missense_Mutation_p.D498Y|DYSF_uc010fei.2_Missense_Mutation_p.D498Y|DYSF_uc010fek.2_Missense_Mutation_p.D499Y|DYSF_uc010fej.2_Missense_Mutation_p.D468Y|DYSF_uc010fel.2_Missense_Mutation_p.D468Y|DYSF_uc010feo.2_Missense_Mutation_p.D499Y|DYSF_uc010fem.2_Missense_Mutation_p.D468Y|DYSF_uc010fen.2_Missense_Mutation_p.D499Y|DYSF_uc002sif.2_Missense_Mutation_p.D468Y NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 467 Cytoplasmic (Potential).|C2 3. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 TTGCTCTAGGGACCGCCTGAC 0.557 NA 9 91 6.40141e-05 7.33801e-05 0.000978 1 0 SMYD5 10322 broad.mit.edu 37 2 73449044 73449044 + Nonsense_Mutation SNP G G T rs140745382 byFrequency TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:73449044G>T uc002siw.2 + 6 657 c.628G>T c.(628-630)GGA>TGA p.G210* SMYD5_uc010yre.1_Nonsense_Mutation_p.G94*|SMYD5_uc002six.1_5'Flank NM_006062 NP_006053 Q6GMV2 SMYD5_HUMAN SMYD family member 5 210 metal ion binding 0 TAAACTTCTGGGAGACAAATT 0.473 NA 12 108 2.48551e-13 3.59186e-13 0.00499 1 0 NAT8B 51471 broad.mit.edu 37 2 73927988 73927988 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:73927988G>T uc002sjk.1 - 2 480 c.445C>A c.(445-447)CGT>AGT p.R149S NM_016347 NP_057431 Q9UHF3 NAT8B_HUMAN N-acetyltransferase 8B 149 N-acetyltransferase. gastrulation with mouth forming second integral to membrane N-acetyltransferase activity 0 CCCTGACCACGGTGCTCATTG 0.562 NA 5 79 0.000157383 0.000176986 0.00308 1 0 LRRTM4 80059 broad.mit.edu 37 2 77746271 77746271 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:77746271G>T uc002snr.2 - 3 1139 c.724C>A c.(724-726)CGC>AGC p.R242S LRRTM4_uc002snq.2_Missense_Mutation_p.R242S|LRRTM4_uc002sns.2_Missense_Mutation_p.R242S|LRRTM4_uc002snt.2_Missense_Mutation_p.R243S NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 242 LRR 8.|Extracellular (Potential). integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) CTAATGGAGCGAATCCTGTTC 0.448 NA 5 30 1.024e-07 1.27899e-07 0.000602 1 0 REG3G 130120 broad.mit.edu 37 2 79254299 79254299 + Splice_Site SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:79254299T>A uc002snw.2 + 4 418 c.333_splice c.e4+2 p.Q111_splice REG3G_uc002snx.2_Splice_Site_p.Q111_splice|REG3G_uc010ffu.2_Intron NM_198448 NP_940850 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma precursor acute-phase response extracellular region sugar binding 0 CCCACACAGGTGCGAGTATAT 0.557 NA 10 98 0 0 0.004007 0 0 REG3A 5068 broad.mit.edu 37 2 79384785 79384785 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:79384785T>A uc002sod.1 - 4 628 c.373A>T c.(373-375)AGT>TGT p.S125C REG3A_uc002soe.1_Missense_Mutation_p.S125C|REG3A_uc002sof.1_Missense_Mutation_p.S125C NM_138938 NP_620355 Q06141 REG3A_HUMAN pancreatitis-associated protein precursor 125 C-type lectin. acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding skin(1) 1 ATCACATCACTGCTACTCCAC 0.542 NA 7 133 0 0 0.001984 0 0 CTNNA2 1496 broad.mit.edu 37 2 80136743 80136743 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:80136743G>C uc010ysh.1 + 6 881 c.876G>C c.(874-876)ATG>ATC p.M292I CTNNA2_uc010yse.1_Missense_Mutation_p.M292I|CTNNA2_uc010ysf.1_Missense_Mutation_p.M292I|CTNNA2_uc010ysg.1_Missense_Mutation_p.M292I NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 292 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 TGGACCCCATGACGTTCAGCG 0.562 NA 21 167 0 0 0.00632 0 0 ASTL 431705 broad.mit.edu 37 2 96799710 96799710 + Missense_Mutation SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:96799710T>C uc010yui.1 - 4 331 c.331A>G c.(331-333)AAG>GAG p.K111E NM_001002036 NP_001002036 Q6HA08 ASTL_HUMAN astacin-like metalloendopeptidase precursor 111 proteolysis metalloendopeptidase activity|zinc ion binding 0 TCACCGTACTTGCTGGAGAGC 0.582 NA 21 36 0 0 0.004656 0 0 ITPRIPL1 150771 broad.mit.edu 37 2 96993504 96993504 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:96993504C>T uc002svx.2 + 3 1470 c.1135C>T c.(1135-1137)CTG>TTG p.L379L ITPRIPL1_uc010yuk.1_Silent_p.L371L|ITPRIPL1_uc002svy.2_Silent_p.L387L|ITPRIPL1_uc010yul.1_Silent_p.L371L NM_001008949 NP_001008949 Q6GPH6 IPIL1_HUMAN inositol 1,4,5-triphosphate receptor interacting 379 Cytoplasmic (Potential). integral to membrane central_nervous_system(2)|ovary(1) 3 CTTGGTCTACCTGGTGAGTCA 0.597 NA 14 112 0 0 0.004007 0 0 CNNM4 26504 broad.mit.edu 37 2 97427550 97427550 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:97427550G>T uc002swx.2 + 1 912 c.814G>T c.(814-816)GTG>TTG p.V272L NM_020184 NP_064569 Q6P4Q7 CNNM4_HUMAN cyclin M4 272 Helical; (Potential).|DUF21. biomineral tissue development|ion transport|response to stimulus|visual perception integral to membrane|plasma membrane breast(2)|ovary(1) 3 CCTCATGGCGGTGGCCTCCTC 0.587 NA 9 124 0.000274275 0.000305179 0.004482 1 0 RGPD3 653489 broad.mit.edu 37 2 107032375 107032375 + Missense_Mutation SNP A A C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:107032375A>C uc010ywi.1 - 21 5052 c.4995T>G c.(4993-4995)AGT>AGG p.S1665R NM_001144013 NP_001137485 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 1665 intracellular transport binding ovary(1) 1 AGTGATCTGCACTTTTTGTGG 0.403 NA 33 210 0 0 0.004878 0 0 SEPT10 151011 broad.mit.edu 37 2 110310790 110310790 + Silent SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:110310790T>C uc002tew.2 - 9 1414 c.1035A>G c.(1033-1035)CAA>CAG p.Q345Q SEPT10_uc010ywu.1_Silent_p.Q178Q|SEPT10_uc002tex.2_Silent_p.Q322Q|SEPT10_uc002tey.2_Silent_p.Q345Q|SEPT10_uc010ywv.1_Silent_p.Q211Q|SEPT10_uc002tev.1_Silent_p.Q152Q|SEPT10_uc010fjo.2_Intron NM_144710 NP_653311 Q9P0V9 SEP10_HUMAN septin 10 isoform 1 345 cell cycle|cell division septin complex GTP binding 0 CATAGGTCTCTTGAACACTAA 0.284 NA 23 129 0 0 0.002299 0 0 CKAP2L 150468 broad.mit.edu 37 2 113513676 113513676 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:113513676C>A uc002tie.2 - 4 1351 c.1272G>T c.(1270-1272)AAG>AAT p.K424N CKAP2L_uc002tif.2_Missense_Mutation_p.K13N|CKAP2L_uc010yxp.1_Missense_Mutation_p.K259N|CKAP2L_uc010yxq.1_Missense_Mutation_p.K259N NM_152515 NP_689728 Q8IYA6 CKP2L_HUMAN cytoskeleton associated protein 2-like 424 centrosome 0 GGGGAACAGCCTTTTTCAACT 0.408 NA 73 479 3.4887e-51 5.8227e-51 0.00361 1 0 DDX11L2 84771 broad.mit.edu 37 2 114357557 114357557 + Nonstop_Mutation SNP A A G rs115341812 by1000genomes TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:114357557A>G uc010yxx.1 - 3 709 c.382T>C c.(382-384)TAG>CAG p.*128Q SubName: Full=DEAD/H box polypeptide 11 like 2; 0 GCCTACTTCTAGTGAAACTGG 0.567 NA 4 26 0 0 0.009096 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125175123 125175123 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:125175123G>A uc002tno.2 + 4 849 c.485G>A c.(484-486)AGT>AAT p.S162N CNTNAP5_uc010flu.2_Missense_Mutation_p.S162N NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 162 F5/8 type C.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) TGGAATCCCAGTGGGAAGATT 0.502 NA 16 26 0 0 0.004007 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125284984 125284984 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:125284984C>A uc002tno.2 + 10 1961 c.1597C>A c.(1597-1599)CTG>ATG p.L533M CNTNAP5_uc010flu.2_Missense_Mutation_p.L534M NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 533 Laminin G-like 2.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) GCAAGGTTCCCTGGGGAATTT 0.428 NA 41 76 1.62957e-23 2.61393e-23 0.00874 1 0 CCDC74B 91409 broad.mit.edu 37 2 130897872 130897872 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:130897872C>T uc002tqm.1 - 5 818 c.756G>A c.(754-756)ATG>ATA p.M252I CCDC74B_uc010yzw.1_Missense_Mutation_p.M354I|CCDC74B_uc002tqn.1_Missense_Mutation_p.M186I NM_207310 NP_997193 Q96LY2 CC74B_HUMAN coiled-coil domain containing 74B 252 0 Colorectal(110;0.1) CCGCCGCCCCCATCTGCCTGC 0.607 NA 68 123 0 0 0.00361 0 0 LOC401010 401010 broad.mit.edu 37 2 132201617 132201617 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:132201617C>T uc002tst.2 - 1 851 c.385G>A c.(385-387)GTG>ATG p.V129M NR_002826 SubName: Full=cDNA FLJ12694 fis, clone NT2RP1000358, highly similar to Homo sapiens mRNA; cDNA DKFZp564C186 (from clone DKFZp564C186); 0 AAGCAGGGCACTAGCACGCTG 0.592 NA 3 42 0 0 0.004672 0 0 MCM6 4175 broad.mit.edu 37 2 136633884 136633884 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:136633884C>T uc002tuw.2 - 1 128 c.52G>A c.(52-54)GTC>ATC p.V18I NM_005915 NP_005906 Q14566 MCM6_HUMAN minichromosome maintenance complex component 6 18 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|identical protein binding 0 BRCA - Breast invasive adenocarcinoma(221;0.166) Atorvastatin(DB01076) TCGTCGCGGACCTCCAGGTGC 0.692 Ovarian(196;141 2104 8848 24991 25939) NA 4 32 0 0 0.000602 0 0 LRP1B 53353 broad.mit.edu 37 2 141528458 141528458 + Nonsense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:141528458G>T uc002tvj.1 - 34 6590 c.5618C>A c.(5617-5619)TCA>TAA p.S1873* NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1873 Extracellular (Potential).|EGF-like 4. 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) ACCTTGACATGACATACGGTT 0.373 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 36 95 6.53348e-20 1.00711e-19 0.003755 1 0 ARHGAP15 55843 broad.mit.edu 37 2 143913162 143913162 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:143913162C>G uc002tvm.3 + 2 254 c.103C>G c.(103-105)CAT>GAT p.H35D ARHGAP15_uc010zbl.1_Missense_Mutation_p.H35D NM_018460 NP_060930 Q53QZ3 RHG15_HUMAN ARHGAP15 35 regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(221;0.151) CAACAGCCACCATGACAGGCT 0.458 NA 10 71 0 0 0.006214 0 0 LYPD6B 130576 broad.mit.edu 37 2 150061878 150061878 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:150061878C>A uc002twv.1 + 4 590 c.189C>A c.(187-189)GCC>GCA p.A63A LYPD6B_uc002tww.1_Silent_p.A25A|LYPD6B_uc002twx.1_Silent_p.A25A NM_177964 NP_808879 Q8NI32 LPD6B_HUMAN LY6/PLAUR domain containing 6B 39 anchored to membrane|plasma membrane 0 GGGCATTTGCCAAGAACATCA 0.512 NA 123 264 3.97618e-41 6.60144e-41 0.00361 1 0 PLA2R1 22925 broad.mit.edu 37 2 160862202 160862202 + Nonsense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:160862202C>A uc002ube.1 - 11 2002 c.1795G>T c.(1795-1797)GAG>TAG p.E599* PLA2R1_uc010zcp.1_Nonsense_Mutation_p.E599*|PLA2R1_uc002ubf.2_Nonsense_Mutation_p.E599* NM_007366 NP_031392 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1 isoform 1 precursor 599 Extracellular (Potential).|C-type lectin 3. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding skin(2)|ovary(1) 3 TGCACCGGCTCGGGTTTCTGC 0.483 NA 20 37 6.70999e-13 9.59437e-13 0.004289 1 0 TBR1 10716 broad.mit.edu 37 2 162274732 162274732 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:162274732C>A uc002ubw.1 + 3 1170 c.868C>A c.(868-870)CCG>ACG p.P290T TBR1_uc010foy.2_Missense_Mutation_p.P3T NM_006593 NP_006584 Q16650 TBR1_HUMAN T-box, brain, 1 290 T-box. nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 CTATATGCATCCGGATTCCCC 0.438 NA 17 63 2.94398e-08 3.7512e-08 0.007413 1 0 KCNH7 90134 broad.mit.edu 37 2 163292062 163292062 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:163292062G>T uc002uch.1 - 8 1812 c.1600C>A c.(1600-1602)CTT>ATT p.L534I KCNH7_uc002uci.2_Missense_Mutation_p.L527I NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H, 534 Helical; Voltage-sensor; Name=Segment S4; (Potential). regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity ovary(3)|skin(2) 5 Ibutilide(DB00308) ACGCGCACAAGACGGAGGAGT 0.453 GBM(196;1492 2208 17507 24132 45496) NA 6 71 0.00116845 0.00127467 0.001168 1 0 KCNH7 90134 broad.mit.edu 37 2 163361078 163361078 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:163361078G>C uc002uch.1 - 6 1215 c.1003C>G c.(1003-1005)CTC>GTC p.L335V KCNH7_uc002uci.2_Missense_Mutation_p.L328V NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H, 335 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity ovary(3)|skin(2) 5 Ibutilide(DB00308) TTCAGAGTGAGCTGTGGAATC 0.378 GBM(196;1492 2208 17507 24132 45496) NA 67 150 0 0 0.00361 0 0 LRP2 4036 broad.mit.edu 37 2 170009461 170009461 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:170009461G>A uc002ues.2 - 67 12522 c.12309C>T c.(12307-12309)TAC>TAT p.Y4103Y NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 4103 Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CTCGCACAGTGTAATACACAA 0.478 NA 77 230 0 0 0.00361 0 0 FASTKD1 79675 broad.mit.edu 37 2 170403036 170403036 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:170403036C>A uc002uev.3 - 8 1781 c.1393G>T c.(1393-1395)GAT>TAT p.D465Y FASTKD1_uc002uew.3_RNA|FASTKD1_uc002uex.3_Missense_Mutation_p.D451Y NM_024622 NP_078898 Q53R41 FAKD1_HUMAN FAST kinase domains 1 465 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity ovary(4) 4 TACATGTGATCATGCTGAATC 0.398 NA 17 118 4.14922e-12 5.85336e-12 0.004007 1 0 PDE11A 50940 broad.mit.edu 37 2 178704991 178704991 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:178704991C>T uc002ulq.2 - 6 1805 c.1487G>A c.(1486-1488)CGC>CAC p.R496H PDE11A_uc002ulp.2_Missense_Mutation_p.R52H|PDE11A_uc002ulr.2_Missense_Mutation_p.R246H|PDE11A_uc002uls.1_Missense_Mutation_p.R138H|PDE11A_uc002ult.1_Missense_Mutation_p.R246H|PDE11A_uc002ulu.1_Missense_Mutation_p.R138H NM_016953 NP_058649 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A isoform 4 496 GAF 2. 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) TGCATCAAAGCGCGGATCCTG 0.453 NA Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial 4 72 0 0 0.000602 0 0 PDE11A 50940 broad.mit.edu 37 2 178936786 178936786 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:178936786G>A uc002ulq.2 - 1 697 c.379C>T c.(379-381)CGC>TGC p.R127C PDE11A_uc002ulr.2_Intron|PDE11A_uc002ult.1_Intron NM_016953 NP_058649 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A isoform 4 127 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) GCCTTGGAGCGGGCAAAACTC 0.607 NA Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial 5 144 0 0 0.001168 0 0 TTN 7273 broad.mit.edu 37 2 179429980 179429980 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:179429980G>C uc010zfg.1 - 275 73399 c.73175C>G c.(73174-73176)ACA>AGA p.T24392R uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T18087R|TTN_uc010zfi.1_Missense_Mutation_p.T18020R|TTN_uc010zfj.1_Missense_Mutation_p.T17895R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 25319 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTCTGTTGCTGTGCCTGCACT 0.408 NA 34 155 0 0 0.002836 0 0 TTN 7273 broad.mit.edu 37 2 179432976 179432976 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:179432976G>A uc010zfg.1 - 275 70403 c.70179C>T c.(70177-70179)TAC>TAT p.Y23393Y uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.Y17088Y|TTN_uc010zfi.1_Silent_p.Y17021Y|TTN_uc010zfj.1_Silent_p.Y16896Y NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 24320 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTCTAAATTGGTATTCTGTAC 0.403 NA 21 147 0 0 0.002299 0 0 TTN 7273 broad.mit.edu 37 2 179440938 179440938 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:179440938C>A uc010zfg.1 - 275 62441 c.62217G>T c.(62215-62217)CAG>CAT p.Q20739H uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Q14434H|TTN_uc010zfi.1_Missense_Mutation_p.Q14367H|TTN_uc010zfj.1_Missense_Mutation_p.Q14242H|uc002umv.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 21666 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTCTTTAGTCTGAAGATCAG 0.473 NA 11 90 0.00010058 0.000114465 0.001368 1 0 TTN 7273 broad.mit.edu 37 2 179446708 179446708 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:179446708C>G uc010zfg.1 - 264 58908 c.58684G>C c.(58684-58686)GTT>CTT p.V19562L uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V13257L|TTN_uc010zfi.1_Missense_Mutation_p.V13190L|TTN_uc010zfj.1_Missense_Mutation_p.V13065L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 20489 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATAGCTGTAACACGGAACTCA 0.443 NA 5 198 0 0 0.000602 0 0 TTN 7273 broad.mit.edu 37 2 179468621 179468621 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:179468621C>A uc010zfg.1 - 231 47313 c.47089G>T c.(47089-47091)GTT>TTT p.V15697F uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V9392F|TTN_uc010zfi.1_Missense_Mutation_p.V9325F|TTN_uc010zfj.1_Missense_Mutation_p.V9200F NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 16624 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCTCCTGCAACCTCTGGATCT 0.408 NA 27 88 9.90768e-06 1.16388e-05 0.004656 1 0 TTN 7273 broad.mit.edu 37 2 179579781 179579781 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:179579781C>T uc010zfg.1 - 87 22624 c.22400G>A c.(22399-22401)GGG>GAG p.G7467E TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G4128E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 8394 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTGATATTCCCCAATGTCTGC 0.448 NA 5 294 0 0 0.000602 0 0 TTN 7273 broad.mit.edu 37 2 179584410 179584410 + Missense_Mutation SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:179584410T>C uc010zfg.1 - 79 20301 c.20077A>G c.(20077-20079)ATT>GTT p.I6693V TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.I3354V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 7620 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATGAATGTAATGTGATGTTTG 0.398 NA 20 175 0 0 0.007413 0 0 TTN 7273 broad.mit.edu 37 2 179616645 179616645 + Silent SNP A A C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:179616645A>C uc002unb.2 - 46 10706 c.10482T>G c.(10480-10482)TCT>TCG p.S3494S TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 3496 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGGAGCTTGTAGATGATATTC 0.368 NA 15 328 0 0 0.003163 0 0 TTN 7273 broad.mit.edu 37 2 179650683 179650683 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:179650683G>A uc010zfg.1 - 14 2486 c.2262C>T c.(2260-2262)GCC>GCT p.A754A TTN_uc010zfh.1_Silent_p.A708A|TTN_uc010zfi.1_Silent_p.A708A|TTN_uc010zfj.1_Silent_p.A708A|TTN_uc002unb.2_Silent_p.A754A|TTN_uc010frg.1_Silent_p.A336A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 754 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGGGTTCTGAGGCTGGACGTT 0.488 NA 5 112 0 0 0.001168 0 0 TTN 7273 broad.mit.edu 37 2 179659835 179659835 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:179659835G>A uc010zfg.1 - 7 1283 c.1059C>T c.(1057-1059)TCC>TCT p.S353S TTN_uc010zfh.1_Silent_p.S353S|TTN_uc010zfi.1_Silent_p.S353S|TTN_uc010zfj.1_Silent_p.S353S|TTN_uc002unb.2_Silent_p.S353S|TTN_uc010frg.1_Silent_p.S27S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 353 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCTCAGATGAGGAGGCCACGT 0.552 NA 11 87 0 0 0.001368 0 0 ITGA4 3676 broad.mit.edu 37 2 182339715 182339715 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:182339715G>T uc002unu.2 + 3 1111 c.348G>T c.(346-348)AAG>AAT p.K116N ITGA4_uc010zfl.1_Missense_Mutation_p.K116N NM_000885 NP_000876 P13612 ITA4_HUMAN integrin alpha 4 precursor 116 FG-GAP 2.|Extracellular (Potential). blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) CTTGTGGAAAGACTTGTTTGG 0.418 NA 12 43 0.000151284 0.000171758 0.001855 1 0 ITGA4 3676 broad.mit.edu 37 2 182395301 182395301 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:182395301A>T uc002unu.2 + 24 3352 c.2589A>T c.(2587-2589)TTA>TTT p.L863F ITGA4_uc002unv.2_Missense_Mutation_p.L108F NM_000885 NP_000876 P13612 ITA4_HUMAN integrin alpha 4 precursor 863 Extracellular (Potential). blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) TGTGTGCATTAGAGCAGCAAA 0.383 NA 5 154 0 0 0.000602 0 0 ZNF804A 91752 broad.mit.edu 37 2 185803479 185803479 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:185803479C>A uc002uph.2 + 4 3950 c.3356C>A c.(3355-3357)GCA>GAA p.A1119E NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 1119 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 gccgcagctgcagGAACCTTT 0.343 NA 29 38 6.32628e-17 9.50446e-17 0.00361 1 0 COL3A1 1281 broad.mit.edu 37 2 189862452 189862452 + Silent SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:189862452A>G uc002uqj.1 + 27 2013 c.1896A>G c.(1894-1896)ACA>ACG p.T632T NM_000090 NP_000081 P02461 CO3A1_HUMAN collagen type III alpha 1 preproprotein 632 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding central_nervous_system(7)|ovary(4)|large_intestine(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) AAGGAGACACAGGACCCCCTG 0.373 NA 6 54 0 0 0.001168 0 0 PLCL1 5334 broad.mit.edu 37 2 198949581 198949581 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:198949581G>T uc010fsp.2 + 2 1631 c.1340G>T c.(1339-1341)AGT>ATT p.S447I PLCL1_uc002uuv.3_Missense_Mutation_p.S368I NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 447 PI-PLC X-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) CTCGATGTAAGTGATGGTTCA 0.393 NA 4 79 0.00909568 0.00959144 0.009096 1 0 ZDBF2 57683 broad.mit.edu 37 2 207173670 207173670 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:207173670A>T uc002vbp.2 + 5 4668 c.4418A>T c.(4417-4419)TAC>TTC p.Y1473F NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1473 nucleic acid binding|zinc ion binding ovary(3) 3 CAAGTGTCTTACAAAGAGGCA 0.373 NA 6 52 0 0 0.001984 0 0 CPS1 1373 broad.mit.edu 37 2 211421526 211421526 + Silent SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:211421526G>T uc002vee.3 + 1 201 c.69G>T c.(67-69)GTG>GTT p.V23V CPS1_uc010fur.2_Silent_p.V29V NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 23 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) TTACCAATGTGACTGCACACC 0.373 NA 25 116 3.28513e-13 4.74018e-13 0.003954 1 0 CPS1 1373 broad.mit.edu 37 2 211504752 211504752 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:211504752G>A uc002vee.3 + 24 3060 c.2928G>A c.(2926-2928)ATG>ATA p.M976I CPS1_uc010fur.2_Missense_Mutation_p.M982I|CPS1_uc010fus.2_Missense_Mutation_p.M525I NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 976 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) ACCATGGAATGATGGTGCTAG 0.234 NA 10 101 0 0 0.00245 0 0 ERBB4 2066 broad.mit.edu 37 2 212248650 212248650 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:212248650G>A uc002veg.1 - 28 3715 c.3617C>T c.(3616-3618)CCA>CTA p.P1206L ERBB4_uc002veh.1_Missense_Mutation_p.P1190L|ERBB4_uc010zji.1_Missense_Mutation_p.P1196L|ERBB4_uc010zjj.1_Missense_Mutation_p.P1180L NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 1206 Cytoplasmic (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) GAGGTACAGTGGCTCATTCAC 0.463 NA TSP Lung(8;0.080) 40 321 0 0 0.007835 0 0 SPAG16 79582 broad.mit.edu 37 2 214794784 214794784 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:214794784G>T uc002veq.2 + 12 1407 c.1315G>T c.(1315-1317)GTG>TTG p.V439L SPAG16_uc010fuz.1_Missense_Mutation_p.V290L|SPAG16_uc002ver.2_Missense_Mutation_p.V385L|SPAG16_uc010zjk.1_Missense_Mutation_p.V345L NM_024532 NP_078808 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 isoform 1 439 WD 3. cilium assembly cilium axoneme|flagellar axoneme ovary(1)|skin(1) 2 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) CAGCCGCGCAGTGTGGTCCTG 0.438 NA 18 153 3.73808e-20 5.78092e-20 0.005443 1 0 PRKAG3 53632 broad.mit.edu 37 2 219692035 219692035 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:219692035G>A uc002vjb.1 - 9 956 c.937C>T c.(937-939)CCG>TCG p.P313S PRKAG3_uc010zkn.1_RNA|PRKAG3_uc010fvy.1_Silent_p.T354T NM_017431 NP_059127 Q9UGI9 AAKG3_HUMAN AMP-activated protein kinase, non-catalytic 313 CBS 2. cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation cytosol AMP-activated protein kinase activity|protein kinase binding ovary(1)|lung(1) 2 Renal(207;0.0474) Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCTGACACCGGGTCAAGAACA 0.582 NA 6 54 0 0 0.001984 0 0 ACCN4 55515 broad.mit.edu 37 2 220379622 220379622 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:220379622G>T uc002vma.2 + 1 571 c.557G>T c.(556-558)GGC>GTC p.G186V ACCN4_uc010fwi.1_Missense_Mutation_p.G186V|ACCN4_uc010fwj.1_Missense_Mutation_p.G186V|ACCN4_uc002vly.1_Missense_Mutation_p.G186V|ACCN4_uc002vlz.2_Missense_Mutation_p.G186V|ACCN4_uc002vmb.2_5'Flank NM_182847 NP_878267 Q96FT7 ACCN4_HUMAN amiloride-sensitive cation channel 4 isoform 2 186 Cytoplasmic (Potential). integral to plasma membrane sodium channel activity|sodium ion transmembrane transporter activity ovary(2) 2 Renal(207;0.0183) Epithelial(149;5.47e-10)|all cancers(144;9e-08)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.0086)|READ - Rectum adenocarcinoma(5;0.156) CGGGCCTGTGGCCCAGGCCCC 0.716 NA 29 90 7.11191e-15 1.04528e-14 0.002836 1 0 EPHA4 2043 broad.mit.edu 37 2 222291250 222291250 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:222291250C>A uc002vmq.2 - 16 2822 c.2780G>T c.(2779-2781)CGG>CTG p.R927L EPHA4_uc002vmr.2_Missense_Mutation_p.R927L|EPHA4_uc010zlm.1_Missense_Mutation_p.R868L|EPHA4_uc010zln.1_Missense_Mutation_p.R927L NM_004438 NP_004429 P54764 EPHA4_HUMAN ephrin receptor EphA4 precursor 927 Cytoplasmic (Potential).|SAM. integral to plasma membrane ATP binding|ephrin receptor activity lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1) 12 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) ATCCTTATACCGGTCCATTTT 0.478 NA 6 75 8.12818e-05 9.27259e-05 0.001984 1 0 SCG2 7857 broad.mit.edu 37 2 224462854 224462854 + Missense_Mutation SNP G G A rs149957287 TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:224462854G>A uc002vnm.2 - 2 1280 c.1147C>T c.(1147-1149)CGG>TGG p.R383W NM_003469 NP_003460 P13521 SCG2_HUMAN secretogranin II precursor 383 angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity ovary(1) 1 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) TCAAGCTCCCGCTCCGGTTCC 0.483 NA 35 105 0 0 0.005524 0 0 IRS1 3667 broad.mit.edu 37 2 227660130 227660130 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:227660130T>A uc002voh.3 - 1 3377 c.3325A>T c.(3325-3327)AGT>TGT p.S1109C NM_005544 NP_005535 P35568 IRS1_HUMAN insulin receptor substrate 1 1109 fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1) 12 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) CGGGTGGCACTGGGTGTTGAG 0.632 NA 20 85 0 0 0.008871 0 0 COL4A4 1286 broad.mit.edu 37 2 227983373 227983373 + Silent SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:227983373T>A uc010zlt.1 - 7 1131 c.477A>T c.(475-477)CCA>CCT p.P159P NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor 159 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1) 11 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) GGGGGCCTCCTGGGCCAAGAG 0.398 NA 8 136 0 0 0.00308 0 0 COL4A3 1285 broad.mit.edu 37 2 228157957 228157957 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:228157957A>T uc002vom.1 + 38 3423 c.3261A>T c.(3259-3261)CAA>CAT p.Q1087H COL4A3_uc002von.1_Missense_Mutation_p.Q1087H|COL4A3_uc002voo.1_Missense_Mutation_p.Q1087H|COL4A3_uc002vop.1_Missense_Mutation_p.Q1087H|uc002voq.1_Intron|uc002vor.1_Intron NM_000091 NP_000082 Q01955 CO4A3_HUMAN alpha 3 type IV collagen isoform 1 precursor 1087 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity skin(2)|ovary(1) 3 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) AAATGGGGCAACCTGGCCCAC 0.502 NA 4 53 0 0 0.009096 0 0 PID1 55022 broad.mit.edu 37 2 229890500 229890500 + Nonsense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:229890500C>A uc002vpr.3 - 3 639 c.601G>T c.(601-603)GAG>TAG p.E201* PID1_uc002vps.3_Nonsense_Mutation_p.E199*|PID1_uc002vpt.3_Nonsense_Mutation_p.E168*|PID1_uc002vpu.3_Nonsense_Mutation_p.E119* NM_001100818 NP_001094288 Q7Z2X4 PCLI1_HUMAN phosphotyrosine interaction domain containing 1 201 PID. cytoplasm breast(3)|skin(1) 4 Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171) Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189) CTCTCGCACTCCACGGCGTGG 0.587 NA 15 150 1.49906e-05 1.74798e-05 0.00245 1 0 SP110 3431 broad.mit.edu 37 2 231036855 231036855 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:231036855C>A uc002vqh.3 - 16 1982 c.1742G>T c.(1741-1743)AGG>ATG p.R581M SP110_uc002vqg.3_Missense_Mutation_p.R581M NM_004509 NP_004500 Q9HB58 SP110_HUMAN SP110 nuclear body protein isoform a 581 Bromo. interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|signal transducer activity|zinc ion binding ovary(2)|breast(2) 4 Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169) Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097) TCCTGAAGACCTCTTCATCCT 0.547 NA 67 127 1.76847e-28 2.89054e-28 0.00361 1 0 SP140 11262 broad.mit.edu 37 2 231177387 231177387 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:231177387T>A uc002vql.2 + 27 2707 c.2592T>A c.(2590-2592)AAT>AAA p.N864K SP140_uc010zma.1_Intron|SP140_uc002vqn.2_Missense_Mutation_p.N750K|SP140_uc002vqm.2_Missense_Mutation_p.N804K|SP140_uc010fxl.2_Missense_Mutation_p.N837K NM_007237 NP_009168 Q13342 LY10_HUMAN SP140 nuclear body protein isoform 1 864 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) AGGAAACAAATGGGAACAATT 0.239 NA 17 154 0 0 0.004007 0 0 CHRND 1144 broad.mit.edu 37 2 233399022 233399022 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:233399022C>A uc002vsw.2 + 11 1345 c.1341C>A c.(1339-1341)AAC>AAA p.N447K CHRND_uc010zmg.1_Missense_Mutation_p.N432K|CHRND_uc010fyc.2_Missense_Mutation_p.N320K|CHRND_uc010zmh.1_Missense_Mutation_p.N253K NM_000751 NP_000742 Q07001 ACHD_HUMAN nicotinic acetylcholine receptor delta 447 Cytoplasmic (Potential). muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity ovary(1)|breast(1)|skin(1) 3 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) TCATTGTTAACCACATGAGGG 0.502 NA 21 55 1.10923e-09 1.47898e-09 0.00278 1 0 SH3BP4 23677 broad.mit.edu 37 2 235951690 235951690 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:235951690G>T uc002vvp.2 + 4 2670 c.2277G>T c.(2275-2277)AGG>AGT p.R759S SH3BP4_uc010fym.2_Missense_Mutation_p.R759S|SH3BP4_uc002vvq.2_Missense_Mutation_p.R759S NM_014521 NP_055336 Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 759 endocytosis clathrin-coated vesicle|coated pit|nucleus protein binding skin(3)|ovary(1) 4 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) CCTCCGTGAGGACCCTGCTCA 0.632 NA 12 56 2.62699e-14 3.82548e-14 0.003163 1 0 LRRFIP1 9208 broad.mit.edu 37 2 238672084 238672084 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:238672084C>T uc002vxe.2 + 11 2020 c.1728C>T c.(1726-1728)AAC>AAT p.N576N LRRFIP1_uc002vxc.2_Intron|LRRFIP1_uc010znm.1_Intron|LRRFIP1_uc002vxd.2_Silent_p.N552N|LRRFIP1_uc002vxf.2_Silent_p.N520N NM_001137552 NP_001131024 Q32MZ4 LRRF1_HUMAN leucine rich repeat (in FLII) interacting 576 DNA-binding.|Lys-rich. negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|cytoskeleton|nucleus DNA binding|double-stranded RNA binding|protein binding breast(3) 3 Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228) aaaagaaaaacaagaagaaaa 0.323 NA 12 76 0 0 0.001368 0 0 HDAC4 9759 broad.mit.edu 37 2 239974820 239974820 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:239974820C>A uc002vyk.3 - 27 4020 c.3228G>T c.(3226-3228)GAG>GAT p.E1076D HDAC4_uc010fyy.2_Missense_Mutation_p.E1033D NM_006037 NP_006028 P56524 HDAC4_HUMAN histone deacetylase 4 1076 Nuclear export signal (By similarity).|Histone deacetylase. B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding breast(3)|skin(2)|ovary(1) 6 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) CTTCCATGGGCTCCTCATCTG 0.567 NA 17 79 1.99824e-07 2.46017e-07 0.00499 1 0 KIF1A 547 broad.mit.edu 37 2 241727624 241727624 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:241727624C>A uc002vzy.2 - 4 353 c.207G>T c.(205-207)TCG>TCT p.S69S KIF1A_uc010fzk.2_Silent_p.S69S|KIF1A_uc002vzz.1_Silent_p.S69S NM_004321 NP_004312 Q12756 KIF1A_HUMAN axonal transport of synaptic vesicles 69 Kinesin-motor. anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity lung(1) 1 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) CCTGCTTCTGCGACGCGTAGT 0.602 NA 7 21 0.000157383 0.000176986 0.00308 1 0 ANO7 50636 broad.mit.edu 37 2 242142826 242142826 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:242142826C>A uc002wax.2 + 9 1067 c.964C>A c.(964-966)CGC>AGC p.R322S NM_001001891 NP_001001891 Q6IWH7 ANO7_HUMAN transmembrane protein 16G isoform NGEP long 322 Cytoplasmic (Potential). cell junction|chloride channel complex|cytosol chloride channel activity pancreas(2)|central_nervous_system(1) 3 GCACTGGGCGCGCTGGGGCAA 0.687 NA 8 6 0.000274275 0.000305179 0.004482 1 0 SRXN1 140809 broad.mit.edu 37 20 629553 629553 + Silent SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:629553T>A uc002wea.2 - 2 280 c.219A>T c.(217-219)CCA>CCT p.P73P SRXN1_uc002web.2_RNA NM_080725 NP_542763 Q9BYN0 SRXN1_HUMAN sulfiredoxin 1 homolog 73 response to oxidative stress cytosol antioxidant activity|ATP binding|DNA binding|sulfiredoxin activity ovary(1) 1 GCACGCTGTCTGGGTCCTCCT 0.562 NA 4 48 0 0 0.009096 0 0 TGM6 343641 broad.mit.edu 37 20 2375141 2375141 + Silent SNP C C G rs147506152 by1000genomes TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:2375141C>G uc002wfy.1 + 2 112 c.51C>G c.(49-51)GGC>GGG p.G17G TGM6_uc010gal.1_Silent_p.G17G NM_198994 NP_945345 O95932 TGM3L_HUMAN transglutaminase 6 17 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(3)|skin(1) 4 L-Glutamine(DB00130) CGAGGAATGGCGCTGCCCACC 0.647 NA 4 30 0 0 0.009096 0 0 ADAM33 80332 broad.mit.edu 37 20 3652889 3652889 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:3652889G>T uc002wit.2 - 14 1576 c.1489C>A c.(1489-1491)CCA>ACA p.P497T ADAM33_uc002wiq.1_5'Flank|ADAM33_uc002wir.1_Missense_Mutation_p.P497T|ADAM33_uc002wis.2_Missense_Mutation_p.P19T|ADAM33_uc002wiu.2_Missense_Mutation_p.P497T|uc002wiv.1_5'Flank|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron NM_025220 NP_079496 Q9BZ11 ADA33_HUMAN ADAM metallopeptidase domain 33 isoform alpha 497 Extracellular (Potential).|Disintegrin. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding large_intestine(2)|ovary(1)|skin(1) 4 TAAACGTCTGGGGGACAGTGG 0.657 NA 15 93 2.32078e-09 3.06421e-09 0.003163 1 0 ADRA1D 146 broad.mit.edu 37 20 4202311 4202311 + Silent SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:4202311C>G uc002wkr.2 - 2 1633 c.1578G>C c.(1576-1578)GCG>GCC p.A526A NM_000678 NP_000669 P25100 ADA1D_HUMAN alpha-1D-adrenergic receptor 526 Cytoplasmic (By similarity). KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1). cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation integral to plasma membrane alpha1-adrenergic receptor activity 0 Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162) CTGCGCGCTGCGCGCCCCCGG 0.726 NA 8 32 0 0 0.001368 0 0 RASSF2 9770 broad.mit.edu 37 20 4770302 4770302 + Silent SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:4770302G>T uc002wld.2 - 7 633 c.579C>A c.(577-579)GTC>GTA p.V193V RASSF2_uc002wlc.2_RNA|RASSF2_uc002wle.2_RNA|RASSF2_uc002wlf.2_Silent_p.V193V|RASSF2_uc010gbh.2_5'Flank NM_170774 NP_739580 P50749 RASF2_HUMAN Ras association domain family 2 193 Ras-associating. cell cycle|signal transduction nucleus protein binding ovary(3)|lung(2)|large_intestine(1) 6 TGTTGATGCGGACGTTGGTGA 0.542 Melanoma(158;1891 3343 50738) NA 15 49 6.31663e-08 7.95241e-08 0.003163 1 0 C20orf30 29058 broad.mit.edu 37 20 5081562 5081562 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:5081562C>A uc002wll.2 - 5 704 c.238G>T c.(238-240)GTT>TTT p.V80F C20orf30_uc010gbi.2_Intron|C20orf30_uc002wlk.2_Missense_Mutation_p.V143F|C20orf30_uc002wlm.2_Missense_Mutation_p.V80F|C20orf30_uc002wln.2_Missense_Mutation_p.V80F|C20orf30_uc002wlo.2_RNA NM_001009924 NP_001009924 Q96A57 CT030_HUMAN hypothetical protein LOC29058 isoform 2 80 Helical; (Potential). integral to membrane 0 AGCACTGGAACGGCCCGGTCT 0.478 NA OREG0025754 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 41 2.44723e-14 3.56919e-14 0.004656 1 0 TMX4 56255 broad.mit.edu 37 20 7963259 7963259 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:7963259C>T uc002wmx.1 - 8 822 c.689G>A c.(688-690)CGG>CAG p.R230Q NM_021156 NP_066979 Q9H1E5 TMX4_HUMAN thioredoxin-related transmembrane protein 4 230 Glu-rich. cell redox homeostasis|electron transport chain|transport integral to membrane 0 CTCTGATCTCCGATTCTGCTC 0.294 NA 8 72 0 0 0.008291 0 0 PAK7 57144 broad.mit.edu 37 20 9546831 9546831 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:9546831C>A uc002wnl.2 - 6 1736 c.1191G>T c.(1189-1191)ACG>ACT p.T397T PAK7_uc002wnk.2_Silent_p.T397T|PAK7_uc002wnj.2_Silent_p.T397T|PAK7_uc010gby.1_Silent_p.T397T NM_020341 NP_065074 Q9P286 PAK7_HUMAN p21-activated kinase 7 397 Linker. ATP binding|protein binding|protein serine/threonine kinase activity p.T397K(2) lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1) 23 COAD - Colon adenocarcinoma(9;0.194) GGTAGGAAGCCGTGGAGATGT 0.622 NA 6 165 0.00116845 0.00127467 0.001168 1 0 ANKRD5 63926 broad.mit.edu 37 20 10033801 10033801 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:10033801A>G uc002wno.2 + 9 2305 c.1912A>G c.(1912-1914)AGA>GGA p.R638G uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Missense_Mutation_p.R638G|ANKRD5_uc010gbz.2_Missense_Mutation_p.R449G NM_022096 NP_071379 Q9NU02 ANKR5_HUMAN ankyrin repeat domain protein 5 638 ANK 8. calcium ion binding ovary(1)|breast(1) 2 TGCTGATTATAGAATAATTGA 0.348 NA 5 210 0 0 0.001168 0 0 KIF16B 55614 broad.mit.edu 37 20 16488723 16488723 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:16488723C>A uc002wpg.1 - 7 737 c.579G>T c.(577-579)CAG>CAT p.Q193H KIF16B_uc010gch.1_Missense_Mutation_p.Q193H|KIF16B_uc010gci.1_Missense_Mutation_p.Q193H|KIF16B_uc010gcj.1_Missense_Mutation_p.Q193H NM_024704 NP_078980 Q96L93 KI16B_HUMAN kinesin-like motor protein C20orf23 193 Kinesin-motor. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1) 8 CACCATAATTCTGTACTAAAT 0.413 NA 6 291 8.12818e-05 9.27259e-05 0.001984 1 0 PLAGL2 5326 broad.mit.edu 37 20 30784356 30784356 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:30784356C>G uc002wxn.2 - 3 1607 c.1390G>C c.(1390-1392)GGG>CGG p.G464R NM_002657 NP_002648 Q9UPG8 PLAL2_HUMAN pleiomorphic adenoma gene-like 2 464 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) AGTGGTCCCCCAGCTCCTGGG 0.597 Colon(163;15 1893 11280 16306 47518) NA 10 100 0 0 0.008291 0 0 CEP250 11190 broad.mit.edu 37 20 34060658 34060658 + Splice_Site SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:34060658T>A uc002xcm.2 + 13 1880 c.1209_splice c.e13+2 p.Q403_splice CEP250_uc010zve.1_Splice_Site|CEP250_uc010zvd.1_Splice_Site NM_007186 NP_009117 Q9BV73 CP250_HUMAN centrosomal protein 2 centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding ovary(4)|central_nervous_system(1) 5 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) GCTGTGCAGGTAGGAACCCTC 0.512 NA 31 177 0 0 0.007291 0 0 RBM12 10137 broad.mit.edu 37 20 34241207 34241207 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:34241207A>G uc002xdq.2 - 3 2270 c.2038T>C c.(2038-2040)TCA>CCA p.S680P CPNE1_uc010zvj.1_Intron|CPNE1_uc002xde.2_Intron|CPNE1_uc002xdf.2_Intron|CPNE1_uc002xdg.2_Intron|CPNE1_uc010gfi.2_Intron|CPNE1_uc010gfj.2_Intron|CPNE1_uc002xdh.2_Intron|CPNE1_uc002xdi.2_Intron|CPNE1_uc002xdj.2_Intron|CPNE1_uc002xdk.2_Intron|CPNE1_uc002xdl.2_Intron|CPNE1_uc002xdm.2_Intron|CPNE1_uc010gfk.1_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdr.2_Missense_Mutation_p.S680P|RBM12_uc002xds.2_Missense_Mutation_p.S680P NM_152838 NP_690051 Q9NTZ6 RBM12_HUMAN RNA binding motif protein 12 680 Gly-rich.|Pro-rich. nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) GTTATTGCTGAACCAGGCAGT 0.597 NA 32 69 0 0 0.009535 0 0 RBM12 10137 broad.mit.edu 37 20 34242230 34242230 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:34242230C>A uc002xdq.2 - 3 1247 c.1015G>T c.(1015-1017)GTA>TTA p.V339L CPNE1_uc010zvj.1_5'Flank|CPNE1_uc002xde.2_Intron|CPNE1_uc002xdf.2_Intron|CPNE1_uc002xdg.2_Intron|CPNE1_uc010gfi.2_Intron|CPNE1_uc010gfj.2_Intron|CPNE1_uc002xdh.2_Intron|CPNE1_uc002xdi.2_Intron|CPNE1_uc002xdj.2_Intron|CPNE1_uc002xdk.2_Intron|CPNE1_uc002xdl.2_Intron|CPNE1_uc002xdm.2_Intron|CPNE1_uc010gfk.1_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdr.2_Missense_Mutation_p.V339L|RBM12_uc002xds.2_Missense_Mutation_p.V339L NM_152838 NP_690051 Q9NTZ6 RBM12_HUMAN RNA binding motif protein 12 339 RRM 1. nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) TTTCGACCTACATGATCTTTC 0.398 NA 42 291 9.88483e-10 1.32356e-09 0.007835 1 0 C20orf152 140894 broad.mit.edu 37 20 34596240 34596240 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:34596240T>A uc002xes.1 + 9 1148 c.992T>A c.(991-993)TTT>TAT p.F331Y C20orf152_uc002xer.1_Missense_Mutation_p.F331Y|C20orf152_uc010gfp.1_RNA Q96M20 CT152_HUMAN SubName: Full=C20orf152 protein; 331 0 Breast(12;0.00631) ATGGAAAGATTTAAGGAATTC 0.398 NA 7 264 0 0 0.001984 0 0 C20orf24 55969 broad.mit.edu 37 20 35236149 35236149 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:35236149G>T uc002xfq.2 + 2 334 c.146G>T c.(145-147)CGA>CTA p.R49L C20orf24_uc002xfo.2_Missense_Mutation_p.R75L|C20orf24_uc002xfp.2_Missense_Mutation_p.R49L|C20orf24_uc002xft.2_RNA|C20orf24_uc002xfr.2_Missense_Mutation_p.R49L|C20orf24_uc002xfs.2_Missense_Mutation_p.R49L NM_018840 NP_061328 Q9BUV8 CT024_HUMAN RAB5-interacting protein isoform a 49 protein binding 0 Breast(12;0.114) Myeloproliferative disorder(115;0.00878) TACTGGTTCCGACAGATCATT 0.423 NA 20 170 1.10923e-09 1.47898e-09 0.00278 1 0 C20orf132 140699 broad.mit.edu 37 20 35783522 35783522 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:35783522C>G uc010zvu.1 - 11 1139 c.1048G>C c.(1048-1050)GCC>CCC p.A350P C20orf132_uc002xgk.2_Intron|C20orf132_uc002xgm.2_Missense_Mutation_p.A350P|C20orf132_uc002xgn.2_Intron NM_152503 NP_689716 Q9H579 CT132_HUMAN hypothetical protein LOC140699 isoform 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 0 Myeloproliferative disorder(115;0.00878) CTGGCCGTGGCCCGTTCCCGC 0.502 NA 9 157 0 0 0.008291 0 0 JPH2 57158 broad.mit.edu 37 20 42747215 42747215 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:42747215C>T uc002xli.1 - 3 2091 c.1218G>A c.(1216-1218)CTG>CTA p.L406L NM_020433 NP_065166 Q9BR39 JPH2_HUMAN junctophilin 2 isoform 1 406 Ala-rich.|Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane 0 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GGTTGGCAGCCAGGGCGGCCT 0.612 NA 20 182 0 0 0.00278 0 0 SLC2A10 81031 broad.mit.edu 37 20 45353679 45353679 + Splice_Site SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:45353679G>T uc002xsl.2 + 2 102 c.5_splice c.e2-1 p.G2_splice NM_030777 NP_110404 O95528 GTR10_HUMAN solute carrier family 2 member 10 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity ovary(1) 1 Myeloproliferative disorder(115;0.0122) TTGTTTTTTAGGCCACTCCCC 0.378 NA 14 136 0.00185496 0.00201663 0.001855 1 0 SLC2A10 81031 broad.mit.edu 37 20 45358027 45358027 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:45358027G>C uc002xsl.2 + 4 1544 c.1447G>C c.(1447-1449)GGA>CGA p.G483R NM_030777 NP_110404 O95528 GTR10_HUMAN solute carrier family 2 member 10 483 Helical; Name=12; (Potential). endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity ovary(1) 1 Myeloproliferative disorder(115;0.0122) CCTGCTCTACGGACTGACCGC 0.582 NA 11 123 0 0 0.000978 0 0 SULF2 55959 broad.mit.edu 37 20 46305851 46305851 + Silent SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:46305851G>T uc002xto.2 - 9 1551 c.1221C>A c.(1219-1221)GTC>GTA p.V407V SULF2_uc002xtr.2_Silent_p.V407V|SULF2_uc002xtq.2_Silent_p.V407V NM_018837 NP_061325 Q8IWU5 SULF2_HUMAN sulfatase 2 isoform a precursor 407 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding ovary(2)|breast(2)|pancreas(1)|skin(1) 6 AGTCCCGCCAGACCCTCATCT 0.612 NA 26 99 1.4374e-25 2.32932e-25 0.00361 1 0 SALL4 57167 broad.mit.edu 37 20 50408003 50408003 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:50408003C>T uc002xwh.3 - 2 1120 c.1019G>A c.(1018-1020)GGC>GAC p.G340D SALL4_uc010gii.2_Missense_Mutation_p.G340D|SALL4_uc002xwi.3_Intron NM_020436 NP_065169 Q9UJQ4 SALL4_HUMAN sal-like 4 340 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GAGCACCGAGCCCGGGGCCTG 0.637 NA 5 108 0 0 0.000602 0 0 ZNF831 128611 broad.mit.edu 37 20 57766576 57766576 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:57766576G>T uc002yan.2 + 1 502 c.502G>T c.(502-504)GGT>TGT p.G168C NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 168 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) GTCCCACACGGGTGAGAGGCC 0.617 NA 19 264 4.96729e-08 6.27865e-08 0.008871 1 0 DIDO1 11083 broad.mit.edu 37 20 61542867 61542867 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:61542867G>A uc002ydr.1 - 3 362 c.98C>T c.(97-99)ACT>ATT p.T33I DIDO1_uc002yds.1_Missense_Mutation_p.T33I|DIDO1_uc002ydt.1_Missense_Mutation_p.T33I|DIDO1_uc002ydu.1_Missense_Mutation_p.T33I|DIDO1_uc002ydv.1_Missense_Mutation_p.T33I|DIDO1_uc002ydw.1_Missense_Mutation_p.T33I|DIDO1_uc002ydx.1_Missense_Mutation_p.T33I|DIDO1_uc011aao.1_Missense_Mutation_p.T33I NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 33 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) CTTGGCGATAGTGGTCCTTCG 0.632 Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095) NA 4 27 0 0 0.000602 0 0 CHRNA4 1137 broad.mit.edu 37 20 61990962 61990962 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:61990962C>A uc002yes.2 - 2 344 c.166G>T c.(166-168)GCC>TCC p.A56S CHRNA4_uc002yet.1_Intron|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_5'UTR|CHRNA4_uc002yev.1_5'UTR|CHRNA4_uc010gkf.1_5'UTR NM_000744 NP_000735 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 subunit 56 Extracellular (Potential). B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(1)|skin(1) 2 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) GAGATGTTGGCCACGGGTCGG 0.637 NA 14 90 0.000151284 0.000171758 0.001855 1 0 CHRNA4 1137 broad.mit.edu 37 20 61991018 61991018 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:61991018T>A uc002yes.2 - 2 288 c.110A>T c.(109-111)GAG>GTG p.E37V CHRNA4_uc002yet.1_Intron|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_5'UTR|CHRNA4_uc002yev.1_5'UTR|CHRNA4_uc010gkf.1_5'UTR NM_000744 NP_000735 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 subunit 37 Extracellular (Potential). B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(1)|skin(1) 2 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) GAGCCGCTCCTCGGCGTGGGC 0.667 NA 8 61 0 0 0.000978 0 0 ZBTB46 140685 broad.mit.edu 37 20 62421331 62421331 + Silent SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:62421331A>T uc002ygv.1 - 2 981 c.780T>A c.(778-780)GCT>GCA p.A260A ZBTB46_uc002ygu.2_RNA NM_025224 NP_079500 Q86UZ6 ZBT46_HUMAN zinc finger and BTB domain containing 46 260 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding large_intestine(1)|ovary(1) 2 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) AGGCATCACCAGCACTCTGCT 0.577 NA 12 114 0 0 0.001368 0 0 TPTE 7179 broad.mit.edu 37 21 10920156 10920156 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr21:10920156C>A uc002yip.1 - 19 1466 c.1098G>T c.(1096-1098)CTG>CTT p.L366L TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Silent_p.L348L|TPTE_uc002yir.1_Silent_p.L328L|TPTE_uc010gkv.1_Silent_p.L228L NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 366 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CAAAATAATACAGGCTTTCCT 0.383 NA 6 94 0.00116845 0.00127467 0.001168 1 0 TMPRSS15 5651 broad.mit.edu 37 21 19685299 19685299 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr21:19685299G>T uc002ykw.2 - 18 2159 c.2128C>A c.(2128-2130)CAG>AAG p.Q710K NM_002772 NP_002763 P98073 ENTK_HUMAN enterokinase precursor 710 Extracellular (Potential).|SRCR. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 8 TTTGAAATCTGGGTGGTCCAG 0.338 NA 23 60 9.57634e-11 1.31762e-10 0.00333 1 0 KRTAP15-1 254950 broad.mit.edu 37 21 31813044 31813044 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr21:31813044G>T uc002yod.2 + 1 399 c.399G>T c.(397-399)CAG>CAT p.Q133H NM_181623 NP_853654 Q3LI76 KR151_HUMAN keratin associated protein 15-1 133 intermediate filament 0 GGAATTTCCAGGCAACTTGTT 0.458 NA 34 88 9.8876e-21 1.54168e-20 0.004878 1 0 IL10RB 3588 broad.mit.edu 37 21 34640770 34640770 + Nonsense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr21:34640770G>T uc002yrk.1 + 2 220 c.121G>T c.(121-123)GAG>TAG p.E41* IL10RB_uc002yrh.1_Nonsense_Mutation_p.E111*|IL10RB_uc002yri.1_Intron|uc002yrj.1_5'Flank|IL10RB_uc002yrl.1_Nonsense_Mutation_p.E43* NM_000628 NP_000619 Q08334 I10R2_HUMAN interleukin 10 receptor, beta precursor 41 Extracellular (Potential). immune response|inflammatory response interleukin-28 receptor complex protein binding|receptor activity 0 TCTACAGTGGGAGTCACCTGC 0.458 Melanoma(67;315 1275 21667 21943 44564) NA 13 53 5.50884e-06 6.51169e-06 0.001368 1 0 DYRK1A 1859 broad.mit.edu 37 21 38853123 38853123 + Nonsense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr21:38853123G>T uc002ywk.2 + 4 586 c.511G>T c.(511-513)GGA>TGA p.G171* DYRK1A_uc002ywh.1_Nonsense_Mutation_p.G133*|DYRK1A_uc002ywi.2_Nonsense_Mutation_p.G171*|DYRK1A_uc002ywj.2_Nonsense_Mutation_p.G162*|DYRK1A_uc002ywl.2_Nonsense_Mutation_p.G171*|DYRK1A_uc002ywm.2_Nonsense_Mutation_p.G171* NM_001396 NP_001387 Q13627 DYR1A_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 171 ATP (By similarity).|Protein kinase. nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation nuclear speck ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity ovary(2)|lung(1)|breast(1) 4 AGGTTCCTTTGGACAGGTAAT 0.333 Melanoma(114;464 1602 31203 43785 45765) NA 15 42 1.99824e-07 2.46017e-07 0.00499 1 0 TRPM2 7226 broad.mit.edu 37 21 45833845 45833845 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr21:45833845G>T uc002zet.1 + 21 3247 c.3034G>T c.(3034-3036)GAC>TAC p.D1012Y TRPM2_uc002zeu.1_Missense_Mutation_p.D1012Y|TRPM2_uc002zew.1_Missense_Mutation_p.D1012Y|TRPM2_uc010gpt.1_Missense_Mutation_p.D1012Y|TRPM2_uc002zex.1_Missense_Mutation_p.D798Y|TRPM2_uc002zey.1_Missense_Mutation_p.D525Y NM_003307 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, 1012 Extracellular (Potential). integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 CCCCGAGAGCGACGCGACGCA 0.627 NA 45 324 2.76378e-25 4.4711e-25 0.00361 1 0 COL6A1 1291 broad.mit.edu 37 21 47421898 47421898 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr21:47421898G>A uc002zhu.1 + 31 2082 c.1980G>A c.(1978-1980)GCG>GCA p.A660A COL6A1_uc010gqd.1_5'UTR|COL6A1_uc002zhv.1_5'UTR|COL6A1_uc002zhw.1_5'Flank NM_001848 NP_001839 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 precursor 660 VWFA 2.|C-terminal globular domain. axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding ovary(1) 1 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) AGTCGTACGCGGGTGTGGTGC 0.652 NA 3 19 0 0 0.000602 0 0 KLHL22 84861 broad.mit.edu 37 22 20819222 20819222 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr22:20819222C>A uc002zsl.1 - 4 1144 c.1035G>T c.(1033-1035)GCG>GCT p.A345A KLHL22_uc011ahr.1_Silent_p.A202A|KLHL22_uc002zsm.1_Silent_p.A345A NM_032775 NP_116164 Q53GT1 KLH22_HUMAN kelch-like 345 Kelch 1. cell division Cul3-RING ubiquitin ligase complex lung(1) 1 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) TGTTGAGCACCGCGATGCCCT 0.567 NA 42 143 5.34276e-22 8.44155e-22 0.00361 1 0 SMTN 6525 broad.mit.edu 37 22 31484883 31484883 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr22:31484883C>T uc003ajl.1 + 6 617 c.399C>T c.(397-399)TAC>TAT p.Y133Y SMTN_uc003ajk.1_Silent_p.Y133Y|SMTN_uc003ajm.1_Silent_p.Y133Y|SMTN_uc011ale.1_Silent_p.Y187Y|SMTN_uc011alf.1_Silent_p.Y189Y|SMTN_uc003ajn.1_Silent_p.Y125Y|SMTN_uc011alg.1_5'Flank NM_006932 NP_008863 P53814 SMTN_HUMAN smoothelin isoform c 133 muscle organ development|smooth muscle contraction actin cytoskeleton|cytoplasm actin binding|structural constituent of muscle large_intestine(2)|pancreas(1) 3 GGAGGTTGTACAGCGGGCGTC 0.632 NA OREG0026472 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 35 0 0 0.000978 0 0 SYN3 8224 broad.mit.edu 37 22 33260911 33260911 + Silent SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr22:33260911A>G uc003amx.2 - 5 861 c.702T>C c.(700-702)CAT>CAC p.H234H SYN3_uc003amy.2_Silent_p.H234H|SYN3_uc003amz.2_Silent_p.H233H NM_003490 NP_003481 O14994 SYN3_HUMAN synapsin III isoform IIIa 234 C; actin-binding and synaptic-vesicle binding. neurotransmitter secretion cell junction|synaptic vesicle membrane ATP binding|ligase activity skin(1) 1 CCATTGGCTTATGGTTGGGGA 0.463 NA 50 224 0 0 0.00361 0 0 HMOX1 3162 broad.mit.edu 37 22 35779116 35779116 + Nonsense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr22:35779116C>A uc003ant.1 + 2 121 c.41C>A c.(40-42)TCA>TAA p.S14* NM_002133 NP_002124 P09601 HMOX1_HUMAN heme oxygenase (decyclizing) 1 14 angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of chemokine biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response endoplasmic reticulum membrane|extracellular space|microsome enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity ovary(1) 1 NADH(DB00157) CAGGATTTGTCAGAGGCCCTG 0.592 NA 11 68 0.00010058 0.000114465 0.001368 1 0 CSF2RB 1439 broad.mit.edu 37 22 37326508 37326508 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr22:37326508C>A uc003aqa.3 + 7 1027 c.810C>A c.(808-810)AGC>AGA p.S270R CSF2RB_uc003aqc.3_Missense_Mutation_p.S270R NM_000395 NP_000386 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta 270 Extracellular (Potential). respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity skin(2)|pancreas(1) 3 Sargramostim(DB00020) AGGTGGCCAGCTCGGTCTCCT 0.617 NA 6 160 0.00198382 0.00213469 0.001984 1 0 TAB1 10454 broad.mit.edu 37 22 39822870 39822870 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr22:39822870G>T uc003axt.2 + 9 1133 c.1084G>T c.(1084-1086)GTG>TTG p.V362L TAB1_uc003axr.2_Missense_Mutation_p.V438L|TAB1_uc011aok.1_Missense_Mutation_p.V196L|TAB1_uc003axu.1_Missense_Mutation_p.V362L NM_006116 NP_006107 Q15750 TAB1_HUMAN mitogen-activated protein kinase kinase kinase 7 362 PP2C-like. activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane catalytic activity|protein binding breast(1) 1 GACCCTGCTAGTGAGGAACTT 0.662 NA 4 107 1.024e-07 1.27899e-07 0.000602 1 0 ENTHD1 150350 broad.mit.edu 37 22 40283548 40283548 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr22:40283548G>A uc003ayg.2 - 2 456 c.205C>T c.(205-207)CGC>TGC p.R69C NM_152512 NP_689725 Q8IYW4 ENTD1_HUMAN ENTH domain containing 1 69 ENTH. ovary(2)|skin(1) 3 Melanoma(58;0.0749) TACACGTGGCGCCAGTTCTTC 0.403 NA 6 248 0 0 0.001984 0 0 PKDREJ 10343 broad.mit.edu 37 22 46656286 46656286 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr22:46656286C>T uc003bhh.2 - 1 2934 c.2934G>A c.(2932-2934)TTG>TTA p.L978L NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN receptor for egg jelly-like protein precursor 978 Extracellular (Potential). acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity breast(3)|ovary(2) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) TCGTCTTCTTCAAGGACCCAT 0.483 NA 40 134 0 0 0.00623 0 0 GTSE1 51512 broad.mit.edu 37 22 46708079 46708079 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr22:46708079C>T uc011aqy.1 + 5 1016 c.804C>T c.(802-804)ATC>ATT p.I268I GTSE1_uc011aqz.1_Silent_p.I115I NM_016426 NP_057510 Q9NYZ3 GTSE1_HUMAN G-2 and S-phase expressed 1 249 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process cytoplasmic microtubule ovary(1) 1 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00462) GGACAAAAATCCCAGCTGAGA 0.512 GBM(153;542 1915 12487 29016 50495) NA 12 37 0 0 0.001368 0 0 BRPF1 7862 broad.mit.edu 37 3 9788023 9788023 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:9788023C>T uc003bse.2 + 13 3745 c.3346C>T c.(3346-3348)CAT>TAT p.H1116Y BRPF1_uc003bsf.2_Missense_Mutation_p.H1122Y|BRPF1_uc003bsg.2_Missense_Mutation_p.H1115Y|BRPF1_uc011ati.1_Missense_Mutation_p.H1021Y NM_004634 NP_004625 P55201 BRPF1_HUMAN bromodomain and PHD finger-containing protein 1 1116 PWWP. histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane DNA binding|zinc ion binding ovary(2)|central_nervous_system(1) 3 Medulloblastoma(99;0.227) TATGTTCCACCATGGGGTTCC 0.527 NA 33 116 0 0 0.003755 0 0 HDAC11 79885 broad.mit.edu 37 3 13545601 13545601 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:13545601C>G uc003bxy.2 + 9 790 c.657C>G c.(655-657)ATC>ATG p.I219M HDAC11_uc010heb.2_Nonsense_Mutation_p.S177*|HDAC11_uc011aux.1_Missense_Mutation_p.I27M|HDAC11_uc011auy.1_Missense_Mutation_p.I168M NM_024827 NP_079103 Q96DB2 HDA11_HUMAN histone deacetylase 11 isoform 1 219 Histone deacetylase. regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex|plasma membrane histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding ovary(2) 2 cagagGCCATCAGGCGGAAGG 0.318 NA 3 19 0 0 0.009096 0 0 DCLK3 85443 broad.mit.edu 37 3 36763072 36763072 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:36763072A>G uc003cgi.2 - 3 2022 c.1531T>C c.(1531-1533)TTT>CTT p.F511L NM_033403 NP_208382 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 511 Protein kinase. cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1) 9 CACACAGTAAATATAGGTCTC 0.428 NA 5 126 0 0 0.000602 0 0 SLC22A13 9390 broad.mit.edu 37 3 38307398 38307398 + Missense_Mutation SNP G G C rs72542450 byFrequency TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:38307398G>C uc003chz.3 + 1 101 c.47G>C c.(46-48)CGC>CCC p.R16P SLC22A13_uc011aym.1_RNA|SLC22A13_uc011ayn.1_Missense_Mutation_p.R16P NM_004256 NP_004247 Q9Y226 S22AD_HUMAN solute carrier family 22 (organic anion 16 Cytoplasmic (Potential). integral to plasma membrane organic cation transmembrane transporter activity skin(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067) GACTTTGGTCGCTTCCAGATA 0.507 NA 5 79 0 0 0.000602 0 0 CCR8 1237 broad.mit.edu 37 3 39374243 39374244 + Missense_Mutation DNP GC GC AA TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 GC GC - - GC GC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:39374243_39374244GC>AA uc010hhr.2 + 2 559_560 c.421_422GC>AA c.(421-423)GCC>AAC p.A141N CCR8_uc003cjm.2_Missense_Mutation_p.A58N NM_005201 NP_005192 P51685 CCR8_HUMAN chemokine (C-C motif) receptor 8 141 Cytoplasmic (Potential). cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane coreceptor activity ovary(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635) TGCCGTGTATGCCCTAAAGGTG 0.5 NA 37 251 0 0 0.004672 0 0 ZNF501 115560 broad.mit.edu 37 3 44776034 44776034 + Nonsense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:44776034C>T uc003cnu.1 + 3 522 c.121C>T c.(121-123)CAG>TAG p.Q41* ZNF501_uc003cnv.1_Nonsense_Mutation_p.Q41* NM_145044 NP_659481 Q96CX3 ZN501_HUMAN zinc finger protein 501 41 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579) TACCCAGCACCAGAGGATTCA 0.423 NA 11 61 0 0 0.000978 0 0 TGM4 7047 broad.mit.edu 37 3 44951615 44951615 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:44951615C>T uc003coc.3 + 11 1434 c.1361C>T c.(1360-1362)GCC>GTC p.A454V NM_003241 NP_003232 P49221 TGM4_HUMAN transglutaminase 4 (prostate) 454 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) ATGGATCATGCCTTCCTCCTT 0.507 NA 9 40 0 0 0.006214 0 0 PTH1R 5745 broad.mit.edu 37 3 46945140 46945140 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:46945140C>A uc003cqm.2 + 16 1979 c.1776C>A c.(1774-1776)GTC>GTA p.V592V PTH1R_uc003cqn.2_Silent_p.V592V NM_000316 NP_000307 Q03431 PTH1R_HUMAN parathyroid hormone receptor 1 precursor 592 Cytoplasmic (Potential). cytoplasm|integral to plasma membrane|nucleus parathyroid hormone receptor activity|peptide hormone binding|protein self-association breast(1) 1 GGGAGACAGTCATGTGACCAG 0.612 NA Ollier_disease_/_Maffucsyndrome 22 107 3.6726e-16 5.47426e-16 0.003954 1 0 QARS 5859 broad.mit.edu 37 3 49138082 49138082 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:49138082C>T uc003cvx.2 - 11 907 c.902G>A c.(901-903)CGT>CAT p.R301H QARS_uc011bcc.1_5'Flank|QARS_uc011bcd.1_Missense_Mutation_p.R156H|QARS_uc003cvy.2_Missense_Mutation_p.R156H|QARS_uc011bce.1_Missense_Mutation_p.R290H|QARS_uc011bcf.1_3'UTR NM_005051 NP_005042 P47897 SYQ_HUMAN glutaminyl-tRNA synthetase 301 glutaminyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|glutamine-tRNA ligase activity|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) L-Glutamine(DB00130) GTCATCAAAACGCAGAAAACA 0.478 NA 4 101 0 0 0.009096 0 0 NISCH 11188 broad.mit.edu 37 3 52505828 52505828 + Splice_Site SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:52505828A>G uc011beg.1 + 6 482 c.410_splice c.e6-2 p.G137_splice NISCH_uc003ded.3_Splice_Site_p.G137_splice|NISCH_uc003dec.1_Splice_Site_p.G137_splice NM_007184 NP_009115 Q9Y2I1 NISCH_HUMAN nischarin apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity ovary(3)|central_nervous_system(1) 4 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) TGGCTCTTGCAGGAGAACAGC 0.617 NA 8 23 0 0 0.006214 0 0 LMOD3 56203 broad.mit.edu 37 3 69168667 69168667 + Missense_Mutation SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:69168667T>C uc003dns.2 - 2 1048 c.839A>G c.(838-840)AAA>AGA p.K280R LMOD3_uc003dnt.2_Missense_Mutation_p.K280R NM_198271 NP_938012 Q0VAK6 LMOD3_HUMAN leiomodin 3 (fetal) 280 cytoplasm|cytoskeleton tropomyosin binding ovary(1) 1 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24) GTGCTTGTTTTTCTTCATTGC 0.388 NA 21 127 0 0 0.001882 0 0 POU1F1 5449 broad.mit.edu 37 3 87325585 87325585 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:87325585C>A uc003dqq.1 - 1 153 c.28G>T c.(28-30)GAT>TAT p.D10Y POU1F1_uc010hoj.1_Missense_Mutation_p.D10Y NM_000306 NP_000297 P28069 PIT1_HUMAN pituitary specific transcription factor 1 10 negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|skin(1) 2 all_cancers(8;0.104)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677) ATAAAGGTATCAGCCGAAGTA 0.448 NA 10 56 1.76689e-08 2.2666e-08 0.006214 1 0 C3orf38 285237 broad.mit.edu 37 3 88202561 88202561 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:88202561G>A uc003dqw.2 + 3 626 c.315G>A c.(313-315)CTG>CTA p.L105L NM_173824 NP_776185 Q5JPI3 CC038_HUMAN hypothetical protein LOC285237 105 apoptosis 0 Lung NSC(201;0.17) UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661) AACCACAACTGAAATTGAAGG 0.383 NA 62 90 0 0 0.00361 0 0 EPHA6 285220 broad.mit.edu 37 3 96963115 96963115 + Silent SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:96963115G>T uc010how.1 + 5 1633 c.1590G>T c.(1588-1590)GTG>GTT p.V530V EPHA6_uc003drp.1_Silent_p.V530V NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a 435 Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity p.V436V(1) stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 CTATTACAGTGACCACGGATC 0.388 NA 8 64 9.70103e-10 1.30079e-09 0.008291 1 0 OR5H14 403273 broad.mit.edu 37 3 97868307 97868308 + Silent DNP CC CC AT rs146669592 TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:97868307_97868308CC>AT uc003dsg.1 + 1 78_79 c.78_79CC>AT c.(76-81)CCCCTG>CCATTG p.26_27PL>PL NM_001005514 NP_001005514 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, 26_27 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 GGAAAATACCCCTGTTCCTGGC 0.416 NA 43 270 0 0 0.004672 0 0 OR5H15 403274 broad.mit.edu 37 3 97887756 97887756 + Silent SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:97887756T>C uc011bgu.1 + 1 213 c.213T>C c.(211-213)GCT>GCC p.A71A NM_001005515 NP_001005515 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, 71 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TTGTGGATGCTTGGATATCAT 0.403 NA 39 152 0 0 0.00361 0 0 NIT2 56954 broad.mit.edu 37 3 100058049 100058049 + Silent SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:100058049G>T uc003dtv.2 + 2 200 c.126G>T c.(124-126)CCG>CCT p.P42P NIT2_uc011bha.1_Silent_p.P42P NM_020202 NP_064587 Q9NQR4 NIT2_HUMAN nitrilase family, member 2 42 CN hydrolase. nitrogen compound metabolic process omega-amidase activity ovary(1) 1 TTTCTTTGCCGGTCAGTATGG 0.507 NA 17 99 9.16793e-09 1.18248e-08 0.00499 1 0 CEP97 79598 broad.mit.edu 37 3 101446312 101446312 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:101446312G>A uc003dvk.1 + 3 299 c.272G>A c.(271-273)AGC>AAC p.S91N CEP97_uc010hpm.1_Missense_Mutation_p.S91N|CEP97_uc011bhf.1_Missense_Mutation_p.S91N|CEP97_uc003dvl.1_5'UTR NM_024548 NP_078824 Q8IW35 CEP97_HUMAN centrosomal protein 97kDa 91 LRR 3. centrosome|nucleus protein binding ovary(2) 2 CCTCATAATAGCATTGGCTGT 0.398 NA 17 166 0 0 0.006122 0 0 CBLB 868 broad.mit.edu 37 3 105464841 105464841 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:105464841C>A uc003dwc.2 - 6 1087 c.765G>T c.(763-765)GTG>GTT p.V255V CBLB_uc011bhi.1_Silent_p.V277V|CBLB_uc003dwd.1_Silent_p.V255V|CBLB_uc003dwe.1_Silent_p.V255V|CBLB_uc011bhj.1_RNA NM_170662 NP_733762 Q13191 CBLB_HUMAN Cas-Br-M (murine) ecotropic retroviral 255 Cbl-PTB.|SH2-like. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding lung(4)|ovary(3)|breast(1)|skin(1) 9 CTGGATGTGTCACAGCTAAGA 0.333 GBM(93;588 1337 9788 29341 43499) NA Mis S AML 21 164 8.10497e-08 1.01634e-07 0.010504 1 0 MORC1 27136 broad.mit.edu 37 3 108778676 108778676 + Silent SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:108778676T>C uc003dxl.2 - 12 1095 c.1008A>G c.(1006-1008)CAA>CAG p.Q336Q MORC1_uc011bhn.1_Silent_p.Q336Q NM_014429 NP_055244 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 336 Potential. cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding ovary(3)|skin(3)|breast(2) 8 TAAGATTCTTTTGCTTTGCTT 0.368 NA 20 45 0 0 0.001882 0 0 ZBTB20 26137 broad.mit.edu 37 3 114070473 114070473 + Missense_Mutation SNP A A C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:114070473A>C uc003ebi.2 - 4 632 c.452T>G c.(451-453)GTG>GGG p.V151G ZBTB20_uc003ebj.2_Missense_Mutation_p.V78G|ZBTB20_uc010hqp.2_Missense_Mutation_p.V78G|ZBTB20_uc003ebk.2_Missense_Mutation_p.V78G|ZBTB20_uc003ebl.2_Missense_Mutation_p.V78G|ZBTB20_uc003ebm.2_Missense_Mutation_p.V78G|ZBTB20_uc003ebn.2_Missense_Mutation_p.V78G|uc003ebo.1_5'Flank NM_015642 NP_056457 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 isoform 151 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(1) 5 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) GAGCTTTTGCACTGACTGCAC 0.592 NSCLC(69;748 1344 9802 11203 30933) NA 6 49 0 0 0.001168 0 0 GPR156 165829 broad.mit.edu 37 3 119886498 119886498 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:119886498C>A uc011bjf.1 - 9 1826 c.1826G>T c.(1825-1827)CGC>CTC p.R609L GPR156_uc011bjg.1_Missense_Mutation_p.R605L NM_153002 NP_694547 Q8NFN8 GP156_HUMAN G protein-coupled receptor 156 609 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(114;0.19) AAAGTGTGAGCGGGCCCGCTG 0.602 NA 30 60 1.61788e-16 2.41916e-16 0.002445 1 0 CASR 846 broad.mit.edu 37 3 121980969 121980969 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:121980969G>T uc003eev.3 + 4 1459 c.1087G>T c.(1087-1089)GGT>TGT p.G363C CASR_uc003eew.3_Missense_Mutation_p.G363C NM_000388 NP_000379 P41180 CASR_HUMAN calcium-sensing receptor precursor 363 Extracellular (Potential). anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(2)|upper_aerodigestive_tract(1) 7 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) CCTCCAAGAAGGTGCAAAAGG 0.502 NA 33 49 2.48696e-23 3.97578e-23 0.003271 1 0 ADCY5 111 broad.mit.edu 37 3 123066664 123066664 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:123066664G>C uc003egh.1 - 3 1371 c.1371C>G c.(1369-1371)TTC>TTG p.F457L ADCY5_uc003egg.1_Missense_Mutation_p.F90L|ADCY5_uc003egi.1_Missense_Mutation_p.F16L NM_183357 NP_899200 O95622 ADCY5_HUMAN adenylate cyclase 5 457 Cytoplasmic (Potential). activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding ovary(4) 4 GBM - Glioblastoma multiforme(114;0.0342) AAATCTTATGGAACATCATAT 0.547 NA 36 265 0 0 0.004878 0 0 MYLK 4638 broad.mit.edu 37 3 123456371 123456371 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:123456371G>A uc003ego.2 - 8 890 c.608C>T c.(607-609)CCG>CTG p.P203L MYLK_uc011bjw.1_Missense_Mutation_p.P203L|MYLK_uc003egp.2_Missense_Mutation_p.P203L|MYLK_uc003egq.2_Missense_Mutation_p.P203L|MYLK_uc003egr.2_Missense_Mutation_p.P203L|MYLK_uc003egs.2_Missense_Mutation_p.P27L|MYLK_uc010hrs.1_Missense_Mutation_p.P203L NM_053025 NP_444253 Q15746 MYLK_HUMAN myosin light chain kinase isoform 1 203 Ig-like C2-type 2. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity ovary(6)|skin(2)|stomach(1) 9 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) ACGGGCACTCGGCTGCAGTGG 0.542 NA 7 211 0 0 0.001984 0 0 C3orf58 205428 broad.mit.edu 37 3 143704422 143704422 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:143704422A>G uc003evo.2 + 2 1230 c.695A>G c.(694-696)TAT>TGT p.Y232C C3orf58_uc011bnl.1_Missense_Mutation_p.Y23C NM_173552 NP_775823 Q8NDZ4 CC058_HUMAN hypothetical protein LOC205428 isoform a 232 COPI vesicle coat|extracellular region ovary(1) 1 TTTGCAAAGTATCTTGGAGCT 0.393 NA 11 259 0 0 0.000978 0 0 SI 6476 broad.mit.edu 37 3 164767613 164767613 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:164767613A>T uc003fei.2 - 14 1625 c.1563T>A c.(1561-1563)AAT>AAA p.N521K NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 521 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) ATTTGTTTACATTACATCCTT 0.279 NA HNSCC(35;0.089) 8 45 0 0 0.006214 0 0 WDR49 151790 broad.mit.edu 37 3 167322097 167322097 + Missense_Mutation SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:167322097T>C uc003fev.1 - 2 401 c.95A>G c.(94-96)AAT>AGT p.N32S WDR49_uc011bpd.1_Missense_Mutation_p.N85S|WDR49_uc003few.1_Missense_Mutation_p.N373S NM_178824 NP_849146 Q8IV35 WDR49_HUMAN WD repeat domain 49 32 WD 1. large_intestine(1)|ovary(1)|skin(1) 3 ACCAATTAAATTGAGCCGAGA 0.393 NA 25 73 0 0 0.005443 0 0 GOLIM4 27333 broad.mit.edu 37 3 167728076 167728076 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:167728076T>A uc003ffe.2 - 16 2416 c.2072A>T c.(2071-2073)CAT>CTT p.H691L GOLIM4_uc011bpe.1_Missense_Mutation_p.H692L|GOLIM4_uc011bpf.1_Missense_Mutation_p.H664L|GOLIM4_uc011bpg.1_Missense_Mutation_p.H663L NM_014498 NP_055313 O00461 GOLI4_HUMAN golgi integral membrane protein 4 691 Lumenal (Potential). transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(4)|skin(1) 5 AGCTCTTCGATGTGATTTCTC 0.428 NA 54 130 0 0 0.00361 0 0 ABCC5 10057 broad.mit.edu 37 3 183682981 183682981 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:183682981G>A uc003fmg.2 - 14 2188 c.2023C>T c.(2023-2025)CTG>TTG p.L675L ABCC5_uc011bqt.1_Silent_p.L203L|ABCC5_uc010hxl.2_Silent_p.L675L NM_005688 NP_005679 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C, member 5 675 ABC transporter 1. 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) ACCTCCGTCAGGTCGCTGCTG 0.597 NA 15 53 0 0 0.006122 0 0 MASP1 5648 broad.mit.edu 37 3 186961390 186961390 + Silent SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:186961390T>A uc003frh.1 - 9 1442 c.1110A>T c.(1108-1110)CCA>CCT p.P370P MASP1_uc003fri.2_Silent_p.P370P|MASP1_uc003frj.2_Silent_p.P339P NM_001879 NP_001870 P48740 MASP1_HUMAN mannan-binding lectin serine protease 1 isoform 370 Sushi 2. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity ovary(2)|breast(1)|liver(1) 4 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) CCAGCTCTCCTGGGGCTCTAC 0.458 NA 11 158 0 0 0.000978 0 0 MUC4 4585 broad.mit.edu 37 3 195511959 195511959 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:195511959G>A uc011bto.1 - 2 6952 c.6492C>T c.(6490-6492)ACC>ACT p.T2164T MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 45 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) AGGAAGTGTCGGTGACAGGAA 0.577 NA 3 4 0 0 0.009096 0 0 ZNF732 654254 broad.mit.edu 37 4 265785 265785 + Silent SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:265785A>T uc011buu.1 - 3 872 c.858T>A c.(856-858)ATT>ATA p.I286I ZNF732_uc010ibb.1_Intron NM_001137608 NP_001131080 B4DXR9 ZN732_HUMAN zinc finger protein 732 287 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AGGATGAGGTAATGATTTTGC 0.393 NA 3 32 0 0 0.004672 0 0 HGFAC 3083 broad.mit.edu 37 4 3451122 3451122 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:3451122C>T uc003ghc.2 + 14 1947 c.1944C>T c.(1942-1944)CCC>CCT p.P648P HGFAC_uc010icw.2_Silent_p.P655P NM_001528 NP_001519 Q04756 HGFA_HUMAN HGF activator preproprotein 648 proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(2) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) TACGGCCTCCCAGGCGGCTTG 0.627 NA 5 59 0 0 0.001984 0 0 SLIT2 9353 broad.mit.edu 37 4 20619258 20619258 + Missense_Mutation SNP G G C rs141897818 byFrequency TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:20619258G>C uc003gpr.1 + 36 4537 c.4333G>C c.(4333-4335)GAC>CAC p.D1445H SLIT2_uc003gps.1_Missense_Mutation_p.D1437H NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 1445 apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 ATACACGGGGGACAGCTGTGA 0.498 NA 6 28 0 0 0.004482 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23814671 23814671 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:23814671G>A uc003gqs.2 - 9 1991 c.1871C>T c.(1870-1872)TCA>TTA p.S624L PPARGC1A_uc003gqt.2_RNA NM_013261 NP_037393 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor 624 Arg/Ser-rich. androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding ovary(2)|lung(2)|kidney(2)|skin(2) 8 Breast(46;0.0503) GGGCGATCTTGAACGTGATCT 0.493 Esophageal Squamous(29;694 744 13796 34866 44181) NA 6 248 0 0 0.001984 0 0 ARAP2 116984 broad.mit.edu 37 4 36212324 36212324 + Missense_Mutation SNP A A C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:36212324A>C uc003gsq.1 - 6 1513 c.1175T>G c.(1174-1176)GTG>GGG p.V392G ARAP2_uc003gsr.1_Missense_Mutation_p.V392G NM_015230 NP_056045 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 392 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 AATATCTTCCACCTTGTCCTC 0.343 NA 6 218 0 0 0.001168 0 0 GABRG1 2565 broad.mit.edu 37 4 46067560 46067560 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:46067560G>A uc003gxb.2 - 4 515 c.363C>T c.(361-363)GAC>GAT p.D121D NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid A receptor, gamma 1 121 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(2) 2 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TTAAACGACTGTCAAACCAGG 0.294 NA 13 27 0 0 0.00499 0 0 GABRA2 2555 broad.mit.edu 37 4 46252443 46252443 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:46252443C>A uc003gxc.3 - 9 1911 c.1238G>T c.(1237-1239)AGT>ATT p.S413I GABRA2_uc010igc.2_Missense_Mutation_p.S413I|GABRA2_uc011bzc.1_Missense_Mutation_p.S418I NM_001114175 NP_001107647 P47869 GBRA2_HUMAN gamma-aminobutyric acid A receptor, alpha 2 413 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|skin(2) 4 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TTTGCTAACACTGTTGAAAGT 0.393 NA 27 208 2.48779e-11 3.47851e-11 0.005443 1 0 ATP10D 57205 broad.mit.edu 37 4 47570994 47570994 + Silent SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:47570994T>A uc003gxk.1 + 16 3158 c.2994T>A c.(2992-2994)ATT>ATA p.I998I ATP10D_uc003gxl.1_Silent_p.I246I NM_020453 NP_065186 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 998 Cytoplasmic (Potential).|ATP (Potential). ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|pancreas(1) 3 CTGGACTCATTATCACTGGGA 0.512 NA 26 126 0 0 0.005443 0 0 CORIN 10699 broad.mit.edu 37 4 47663813 47663813 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:47663813C>A uc003gxm.2 - 12 1743 c.1650G>T c.(1648-1650)CAG>CAT p.Q550H CORIN_uc011bzf.1_Missense_Mutation_p.Q411H|CORIN_uc011bzg.1_Missense_Mutation_p.Q483H|CORIN_uc011bzh.1_Missense_Mutation_p.Q513H|CORIN_uc011bzi.1_Missense_Mutation_p.Q513H NM_006587 NP_006578 Q9Y5Q5 CORIN_HUMAN corin 550 Extracellular (Potential).|FZ 2. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity ovary(1)|central_nervous_system(1) 2 CTTCAGGCCACTGTAGGCCCA 0.398 NA 14 47 3.27435e-08 4.16656e-08 0.00245 1 0 TEC 7006 broad.mit.edu 37 4 48158716 48158716 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:48158716T>A uc003gxz.2 - 9 864 c.773A>T c.(772-774)GAG>GTG p.E258V NM_003215 NP_003206 P42680 TEC_HUMAN tec protein tyrosine kinase 258 SH2. intracellular protein kinase cascade cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(4)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1) 9 GAGGAGTTGCTCTGCCTTGCT 0.353 NA 11 173 0 0 0.001368 0 0 SCFD2 152579 broad.mit.edu 37 4 54231430 54231430 + Missense_Mutation SNP A A C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:54231430A>C uc003gzu.2 - 1 813 c.679T>G c.(679-681)TGT>GGT p.C227G SCFD2_uc010igm.2_Missense_Mutation_p.C227G NM_152540 NP_689753 Q8WU76 SCFD2_HUMAN sec1 family domain containing 2 227 protein transport|vesicle docking involved in exocytosis ovary(2)|pancreas(1) 3 GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134) AAATGTTCACACAGAGAACTG 0.527 NA 12 113 0 0 0.001855 0 0 LPHN3 23284 broad.mit.edu 37 4 62775373 62775373 + Silent SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:62775373G>T uc010ihh.2 + 9 1952 c.1779G>T c.(1777-1779)CGG>CGT p.R593R LPHN3_uc003hcq.3_Silent_p.R593R|LPHN3_uc003hct.2_5'UTR|LPHN3_uc003hcs.1_Silent_p.R422R NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 593 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 ACTCTGTCCGGGCCATGGACC 0.507 NA 8 13 4.68919e-08 5.93505e-08 0.008291 1 0 TECRL 253017 broad.mit.edu 37 4 65146765 65146765 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:65146765G>T uc003hcv.2 - 11 1067 c.958C>A c.(958-960)CTG>ATG p.L320M TECRL_uc010ihi.2_Intron NM_001010874 NP_001010874 Q5HYJ1 TECRL_HUMAN steroid 5 alpha-reductase 2-like 2 320 Helical; (Potential). lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors 0 TTACCTGGCAGTGTTTGTGTC 0.279 NA 12 23 4.75885e-15 7.02709e-15 0.00499 1 0 UBA6 55236 broad.mit.edu 37 4 68499973 68499973 + Missense_Mutation SNP T T G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:68499973T>G uc003hdg.3 - 22 2052 c.2000A>C c.(1999-2001)GAA>GCA p.E667A NM_018227 NP_060697 A0AVT1 UBA6_HUMAN ubiquitin-activating enzyme E1-like 2 667 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding 0 TAAGACTTCTTCTGCAGATGA 0.279 NA 14 43 0 0 0.003163 0 0 UGT2A3 79799 broad.mit.edu 37 4 69796477 69796477 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:69796477G>T uc003hef.2 - 5 1122 c.1091C>A c.(1090-1092)CCC>CAC p.P364H UGT2A3_uc010ihp.1_RNA NM_024743 NP_079019 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, 364 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(1)|skin(1) 2 TTTGGTTTTGGGATGACCTAG 0.358 NA 9 44 1.11149e-13 1.61115e-13 0.008291 1 0 UGT2B10 7365 broad.mit.edu 37 4 69874726 69874726 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:69874726C>T uc011cao.1 - 8 1181 c.1045G>A c.(1045-1047)GGG>AGG p.G349R UGT2B10_uc011can.1_Missense_Mutation_p.G265R P36537 UDB10_HUMAN RecName: Full=UDP-glucuronosyltransferase 2B28; Short=UDPGT 2B28; EC=2.4.1.17; Flags: Precursor; 386 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(3)|ovary(2) 5 ATAGGGATCCCATGGTAGATT 0.413 Melanoma(133;755 1763 25578 26334 46021) NA 55 167 0 0 0.00361 0 0 UGT2B10 7365 broad.mit.edu 37 4 69879759 69879759 + Silent SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:69879759A>T uc011cao.1 - 6 1006 c.870T>A c.(868-870)CTT>CTA p.L290L UGT2B10_uc011can.1_Silent_p.L206L P36537 UDB10_HUMAN RecName: Full=UDP-glucuronosyltransferase 2B28; Short=UDPGT 2B28; EC=2.4.1.17; Flags: Precursor; 327 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(3)|ovary(2) 5 GGATCTTGGCAAGGGCTGTTG 0.413 Melanoma(133;755 1763 25578 26334 46021) NA 14 167 0 0 0.004007 0 0 UGT2B28 54490 broad.mit.edu 37 4 70160485 70160485 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:70160485C>T uc003hej.2 + 6 1550 c.1548C>T c.(1546-1548)TTC>TTT p.F516F UGT2B28_uc010ihr.2_3'UTR NM_053039 NP_444267 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, 516 Helical; (Potential). xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(1) 1 Flunitrazepam(DB01544) TGTTTTGTTTCTGGAAGTTTG 0.413 NA 6 102 0 0 0.00308 0 0 UGT2A1 10941 broad.mit.edu 37 4 70460881 70460881 + Silent SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:70460881A>G uc003hem.3 - 4 1146 c.1083T>C c.(1081-1083)CTT>CTC p.L361L UGT2A1_uc011caq.1_Silent_p.L527L|UGT2A1_uc010ihu.2_Silent_p.L361L|UGT2A1_uc010iht.2_Silent_p.L317L|UGT2A1_uc010ihs.2_Silent_p.L362L NM_006798 NP_006789 Q9Y4X1 UD2A1_HUMAN UDP glucuronosyltransferase 2 family, 361 Extracellular (Potential). detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity|glucuronosyltransferase activity ovary(1) 1 CAGTCTTACCAAGAAGATCAT 0.338 NA 25 95 0 0 0.005443 0 0 ANKRD17 26057 broad.mit.edu 37 4 74008402 74008402 + Silent SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:74008402C>G uc003hgp.2 - 12 2157 c.2040G>C c.(2038-2040)GTG>GTC p.V680V ANKRD17_uc003hgo.2_Silent_p.V567V|ANKRD17_uc003hgq.2_Silent_p.V680V|ANKRD17_uc003hgr.2_Silent_p.V680V|ANKRD17_uc011cbd.1_Silent_p.V245V NM_032217 NP_115593 O75179 ANR17_HUMAN ankyrin repeat domain protein 17 isoform a 680 ANK 14. interspecies interaction between organisms cytoplasm|nucleus RNA binding ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1) 10 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) AAAGTAGTTCCACCACTGCCA 0.433 NA 7 136 0 0 0.00308 0 0 CXCL1 2919 broad.mit.edu 37 4 74735400 74735400 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:74735400A>G uc003hhh.1 + 2 194 c.115A>G c.(115-117)ACT>GCT p.T39A NM_001511 NP_001502 P09341 GROA_HUMAN chemokine (C-X-C motif) ligand 1 39 actin cytoskeleton organization|cell proliferation|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|intracellular signal transduction|negative regulation of cell proliferation|nervous system development extracellular space|intracellular chemokine activity|enzyme activator activity|growth factor activity 0 Breast(15;0.00102) all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) GTCCGTGGCCACTGAACTGCG 0.652 NA 18 142 0 0 0.010504 0 0 BMP3 651 broad.mit.edu 37 4 81967195 81967195 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:81967195G>T uc003hmg.3 + 2 940 c.620G>T c.(619-621)AGG>ATG p.R207M NM_001201 NP_001192 P12645 BMP3_HUMAN bone morphogenetic protein 3 preproprotein 207 cartilage development|cell differentiation|cell-cell signaling|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity ovary(4)|central_nervous_system(1) 5 CAACTCTTGAGGAAGGCCAAA 0.438 NA 35 304 9.17885e-22 1.44785e-21 0.003271 1 0 FAM175A 84142 broad.mit.edu 37 4 84391519 84391519 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:84391519G>C uc003hou.2 - 5 378 c.313C>G c.(313-315)CAT>GAT p.H105D FAM175A_uc003hot.2_5'Flank|FAM175A_uc003hov.2_5'UTR NM_139076 NP_620775 Q6UWZ7 F175A_HUMAN coiled-coil domain containing 98 105 MPN-like. chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation BRCA1-A complex polyubiquitin binding kidney(1) 1 TGATCTGAATGACGACGGAAT 0.333 NA 5 155 0 0 0.001168 0 0 GRID2 2895 broad.mit.edu 37 4 94343933 94343933 + Silent SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:94343933T>C uc011cdt.1 + 10 1617 c.1359T>C c.(1357-1359)TTT>TTC p.F453F GRID2_uc011cdu.1_Silent_p.F358F NM_001510 NP_001501 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 453 Extracellular (Potential). glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(3)|skin(2)|large_intestine(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) AAGAACCTTTTGTGATGGTCT 0.358 NA 22 42 0 0 0.00278 0 0 PDHA2 5161 broad.mit.edu 37 4 96762021 96762021 + Nonsense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:96762021C>G uc003htr.3 + 1 783 c.720C>G c.(718-720)TAC>TAG p.Y240* NM_005390 NP_005381 P29803 ODPAT_HUMAN pyruvate dehydrogenase E1 alpha 2 precursor 240 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity central_nervous_system(1) 1 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) GCCCTGATTACTACAAGAGGG 0.428 NA 8 57 0 0 0.006214 0 0 ADH1B 125 broad.mit.edu 37 4 100237263 100237263 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:100237263G>T uc003hus.3 - 5 443 c.359C>A c.(358-360)CCT>CAT p.P120H ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Missense_Mutation_p.P80H|ADH1B_uc011ceh.1_Intron|ADH1B_uc011cei.1_Missense_Mutation_p.P80H NM_000668 NP_000659 P00325 ADH1B_HUMAN class I alcohol dehydrogenase, beta subunit 120 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding ovary(1)|breast(1) 2 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) GGTCCCCCGAGGATTGCCTAG 0.547 NA 27 37 7.41945e-09 9.6088e-09 0.005443 1 0 NPNT 255743 broad.mit.edu 37 4 106861316 106861316 + Missense_Mutation SNP G G C rs144069851 byFrequency TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:106861316G>C uc003hya.2 + 6 795 c.590G>C c.(589-591)TGT>TCT p.C197S NPNT_uc011cfc.1_Missense_Mutation_p.C214S|NPNT_uc011cfd.1_Missense_Mutation_p.C227S|NPNT_uc011cfe.1_Missense_Mutation_p.C227S|NPNT_uc010ilt.1_Missense_Mutation_p.C197S|NPNT_uc011cff.1_Missense_Mutation_p.C197S|NPNT_uc010ilu.1_Missense_Mutation_p.C93S NM_001033047 NP_001028219 Q6UXI9 NPNT_HUMAN nephronectin precursor 197 EGF-like 4; calcium-binding (Potential). cell differentiation membrane calcium ion binding skin(1) 1 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.41e-07) ATCTGCAAGTGTCATAAAGGC 0.408 NA 25 130 0 0 0.004656 0 0 PAPSS1 9061 broad.mit.edu 37 4 108552980 108552980 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:108552980C>A uc003hyk.2 - 11 1627 c.1543G>T c.(1543-1545)GCC>TCC p.A515S NM_005443 NP_005434 O43252 PAPS1_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 515 Adenylyl-sulfate kinase. 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity ovary(1) 1 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.49e-05) TAAAAGTTGGCTCCTGCAACC 0.433 NA 6 40 0.00198382 0.00213469 0.001984 1 0 AGXT2L1 64850 broad.mit.edu 37 4 109672168 109672168 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:109672168C>A uc003hzc.2 - 7 806 c.625G>T c.(625-627)GCC>TCC p.A209S AGXT2L1_uc010imc.2_Missense_Mutation_p.A203S|AGXT2L1_uc011cfm.1_Missense_Mutation_p.A169S|AGXT2L1_uc011cfn.1_Missense_Mutation_p.A136S|AGXT2L1_uc011cfo.1_Missense_Mutation_p.A151S NM_031279 NP_112569 Q8TBG4 AT2L1_HUMAN alanine-glyoxylate aminotransferase 2-like 1 209 cellular amino acid metabolic process mitochondrion alanine-glyoxylate transaminase activity|pyridoxal phosphate binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(123;0.000281) GCAATAAAGGCAGCAATCTAT 0.433 NA 59 94 6.12789e-21 9.5862e-21 0.00361 1 0 NDST4 64579 broad.mit.edu 37 4 115760594 115760594 + Silent SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:115760594T>C uc003ibu.2 - 11 2905 c.2226A>G c.(2224-2226)CTA>CTG p.L742L NDST4_uc010imw.2_RNA NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN heparan sulfate N-deacetylase/N-sulfotransferase 742 Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity skin(3)|ovary(1) 4 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) ATCCAGGTACTAGGCATCTTC 0.378 NA 8 120 0 0 0.008291 0 0 KIAA1109 84162 broad.mit.edu 37 4 123155942 123155942 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:123155942G>T uc003ieh.2 + 25 3383 c.3338G>T c.(3337-3339)TGG>TTG p.W1113L KIAA1109_uc003iei.1_Missense_Mutation_p.W866L|KIAA1109_uc010ins.1_Missense_Mutation_p.W456L NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 1113 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 TGGTTTTTATGGCCAGATGAT 0.343 NA 19 107 1.64113e-05 1.9113e-05 0.010504 1 0 FAT4 79633 broad.mit.edu 37 4 126412916 126412916 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:126412916A>G uc003ifj.3 + 17 14939 c.14939A>G c.(14938-14940)TAT>TGT p.Y4980C FAT4_uc011cgp.1_Missense_Mutation_p.Y3221C|FAT4_uc003ifi.1_Missense_Mutation_p.Y2457C NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 4980 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GCAGAACAGTATGTGTGAAGT 0.373 NA 3 21 0 0 0.009096 0 0 PCDH10 57575 broad.mit.edu 37 4 134072018 134072018 + Silent SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:134072018G>T uc003iha.2 + 1 1549 c.723G>T c.(721-723)CTG>CTT p.L241L uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.L241L NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 241 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) TCCGAGTGCTGGACTCCAATG 0.483 NA 10 77 5.50884e-06 6.51169e-06 0.001368 1 0 PCDH10 57575 broad.mit.edu 37 4 134072783 134072783 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:134072783C>A uc003iha.2 + 1 2314 c.1488C>A c.(1486-1488)GCC>GCA p.A496A uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.A496A NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 496 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) GCGCCAACGCCCAGCTTGCCT 0.587 NA 11 61 5.16669e-11 7.16085e-11 0.000978 1 0 PCDH10 57575 broad.mit.edu 37 4 134073068 134073068 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:134073068C>A uc003iha.2 + 1 2599 c.1773C>A c.(1771-1773)CCC>CCA p.P591P uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.P591P NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 591 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) AGGTGCTGCCCCGCTCGGCGG 0.667 NA 20 23 3.62473e-10 4.91595e-10 0.001882 1 0 ELF2 1998 broad.mit.edu 37 4 139981626 139981626 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:139981626C>A uc003ihp.1 - 8 1179 c.973G>T c.(973-975)GTT>TTT p.V325F ELF2_uc003ihm.1_Missense_Mutation_p.V277F|ELF2_uc003ihn.1_Missense_Mutation_p.V265F|ELF2_uc003iho.1_Missense_Mutation_p.V248F|ELF2_uc011chc.1_Missense_Mutation_p.V140F NM_201999 NP_973728 Q15723 ELF2_HUMAN E74-like factor 2 (ets domain transcription 337 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) CCACTGCGAACAGAGGATGCT 0.438 NA 22 129 6.44725e-10 8.6695e-10 0.002299 1 0 NR3C2 4306 broad.mit.edu 37 4 149357469 149357469 + Nonsense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:149357469T>A uc003ilj.3 - 2 878 c.544A>T c.(544-546)AAA>TAA p.K182* NR3C2_uc003ilk.3_Nonsense_Mutation_p.K182*|NR3C2_uc010iph.2_RNA NM_000901 NP_000892 P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 182 Modulating. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding large_intestine(1) 1 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) ATAGGGCTTTTAACAACGGCG 0.512 Melanoma(27;428 957 40335 51025 51111) NA 5 114 0 0 0.000602 0 0 MAB21L2 10586 broad.mit.edu 37 4 151504393 151504393 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:151504393C>A uc003ilw.2 + 1 1317 c.212C>A c.(211-213)CCC>CAC p.P71H LRBA_uc003ils.3_5'Flank|LRBA_uc003ilt.3_Intron|LRBA_uc003ilu.3_Intron|LRBA_uc010ipj.2_Intron NM_006439 NP_006430 Q9Y586 MB212_HUMAN mab-21-like protein 2 71 nervous system development nucleus ovary(1) 1 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.159) GTCATTTCGCCCACCGAATTT 0.597 NA 23 34 2.44723e-14 3.56919e-14 0.004656 1 0 NPY2R 4887 broad.mit.edu 37 4 156135336 156135336 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:156135336G>C uc003ioq.2 + 2 740 c.245G>C c.(244-246)CGC>CCC p.R82P NPY2R_uc003ior.2_Missense_Mutation_p.R82P NM_000910 NP_000901 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 82 Cytoplasmic (Potential). cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity lung(2)|skin(1) 3 all_hematologic(180;0.24) Renal(120;0.0854) AAGAGCATGCGCACAGTAACC 0.453 NA 6 53 0 0 0.001168 0 0 MORF4 10934 broad.mit.edu 37 4 174537438 174537438 + Silent SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:174537438T>A uc011cke.1 - 1 357 c.357A>T c.(355-357)ACA>ACT p.T119T NM_006792 NP_006783 mortality factor 4 0 Prostate(90;0.00201)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0765)|all_hematologic(60;0.107) all cancers(43;1.88e-18)|Epithelial(43;1.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) CCTTATTATCTGTGTTTCCAT 0.393 NA 15 247 0 0 0.003163 0 0 SPCS3 60559 broad.mit.edu 37 4 177241368 177241368 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:177241368G>C uc003iur.3 + 1 279 c.141G>C c.(139-141)ATG>ATC p.M47I NM_021928 NP_068747 P61009 SPCS3_HUMAN signal peptidase complex subunit 3 47 Lumenal (Potential). energy reserve metabolic process|regulation of insulin secretion|signal peptide processing integral to membrane|microsome|signal peptidase complex peptidase activity ovary(1) 1 Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124) all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319) CGCGGATCATGCTGTGAGTGA 0.348 NA 13 28 0 0 0.001855 0 0 ANKRD37 353322 broad.mit.edu 37 4 186320857 186320857 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:186320857T>A uc003ixm.2 + 4 644 c.406T>A c.(406-408)TGT>AGT p.C136S ANKRD37_uc011cks.1_Missense_Mutation_p.C136S|UFSP2_uc003ixn.2_3'UTR|UFSP2_uc003ixo.2_3'UTR|UFSP2_uc003ixq.2_3'UTR|UFSP2_uc003ixp.2_RNA NM_181726 NP_859077 Q7Z713 ANR37_HUMAN ankyrin repeat domain 37 136 cytoplasm|nucleus 0 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;1.27e-25)|Epithelial(43;1.02e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.14e-11)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000118)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|COAD - Colon adenocarcinoma(29;0.00939)|READ - Rectum adenocarcinoma(43;0.155) CAGGAATGATTGTGTTGCCGT 0.438 NA 14 105 0 0 0.00499 0 0 ZFP42 132625 broad.mit.edu 37 4 188924650 188924650 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:188924650C>T uc003izg.1 + 3 934 c.689C>T c.(688-690)TCA>TTA p.S230L ZFP42_uc003izh.1_Missense_Mutation_p.S230L|ZFP42_uc003izi.1_Missense_Mutation_p.S230L NM_174900 NP_777560 Q96MM3 ZFP42_HUMAN zinc finger protein 42 230 C2H2-type 2. female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) GTTGAGAGCTCAAAACTAAAG 0.493 NA 6 78 0 0 0.001984 0 0 SLC9A3 6550 broad.mit.edu 37 5 482784 482784 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:482784C>T uc003jbe.2 - 7 1347 c.1235G>A c.(1234-1236)GGG>GAG p.G412E SLC9A3_uc011clx.1_Missense_Mutation_p.G412E NM_004174 NP_004165 P48764 SL9A3_HUMAN solute carrier family 9 (sodium/hydrogen 412 cell surface|integral to membrane sodium:hydrogen antiporter activity 0 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) GCGCAGGCCCCCGTAGGACAG 0.627 NA 7 24 0 0 0.00308 0 0 ZDHHC11 79844 broad.mit.edu 37 5 850557 850557 + Missense_Mutation SNP G G A rs145802626 TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:850557G>A uc011cma.1 - 1 545 c.161C>T c.(160-162)TCG>TTG p.S54L ZDHHC11_uc003jbj.2_5'Flank NM_024786 NP_079062 Q9H8X9 ZDH11_HUMAN zinc finger, DHHC-type containing 11 54 Helical; (Potential). integral to membrane acyltransferase activity|zinc ion binding skin(1)|pancreas(1) 2 Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) GAAGGTGGCCGAGGAAAGGCC 0.582 NA 9 48 0 0 0.004482 0 0 BRD9 65980 broad.mit.edu 37 5 870664 870664 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:870664G>A uc003jbq.2 - 14 1616 c.1449C>T c.(1447-1449)AGC>AGT p.S483S BRD9_uc003jbl.2_Silent_p.S367S|BRD9_uc003jbm.2_RNA|BRD9_uc003jbn.2_RNA|BRD9_uc011cmb.1_Silent_p.S430S|BRD9_uc003jbo.2_Silent_p.S387S|BRD9_uc003jbp.2_Silent_p.S144S NM_023924 NP_076413 Q9H8M2 BRD9_HUMAN bromodomain containing 9 isoform 1 483 nucleic acid binding 0 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) GAACAGAGCTGCTGCTGTCTC 0.478 NA 15 38 0 0 0.003163 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5190192 5190192 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:5190192C>A uc003jdl.2 + 7 1294 c.1156C>A c.(1156-1158)CTG>ATG p.L386M ADAMTS16_uc003jdk.1_Missense_Mutation_p.L386M|ADAMTS16_uc003jdj.1_Missense_Mutation_p.L386M NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 386 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 CGCCATCTTACTGACTGGTCT 0.527 NA 17 88 0.00498961 0.00529692 0.00499 1 0 SEMA5A 9037 broad.mit.edu 37 5 9122842 9122842 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:9122842G>A uc003jek.2 - 14 2419 c.1707C>T c.(1705-1707)TCC>TCT p.S569S NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 569 Extracellular (Potential).|TSP type-1 1. cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 GGCTGTCGCAGGAGCGGGTTC 0.652 NA 12 75 0 0 0.005443 0 0 DNAH5 1767 broad.mit.edu 37 5 13824339 13824339 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:13824339C>A uc003jfd.2 - 39 6590 c.6548G>T c.(6547-6549)CGT>CTT p.R2183L NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2183 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) CCGTAGTACACGCATGACAAT 0.448 NA Kartagener_syndrome 21 67 5.26018e-13 7.55553e-13 0.001882 1 0 FBXL7 23194 broad.mit.edu 37 5 15928063 15928063 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:15928063C>A uc003jfn.1 + 3 673 c.192C>A c.(190-192)CTC>CTA p.L64L NM_012304 NP_036436 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 64 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(1) 3 CACCGAATCTCCCAGGATTTC 0.607 NA 7 100 4.68919e-08 5.93505e-08 0.008291 1 0 NIPBL 25836 broad.mit.edu 37 5 36985213 36985213 + Missense_Mutation SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:36985213T>C uc003jkl.3 + 10 2430 c.1931T>C c.(1930-1932)GTT>GCT p.V644A NIPBL_uc003jkk.3_Missense_Mutation_p.V644A|NIPBL_uc003jkm.1_Missense_Mutation_p.V523A NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN delangin isoform A 644 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1) 9 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) GAAACTAAAGTTGAGACCCAA 0.338 NA 17 89 0 0 0.004007 0 0 EGFLAM 133584 broad.mit.edu 37 5 38370435 38370435 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:38370435C>T uc003jlc.1 + 6 907 c.583C>T c.(583-585)CGG>TGG p.R195W EGFLAM_uc003jlb.1_Missense_Mutation_p.R195W NM_152403 NP_689616 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G 195 Fibronectin type-III 2. cell junction|proteinaceous extracellular matrix|synapse pancreas(3)|skin(3)|ovary(1) 7 all_lung(31;0.000385) AATCCATGAGCGGATCCAGAT 0.498 Colon(62;485 1295 3347 17454) NA 10 71 0 0 0.008291 0 0 EGFLAM 133584 broad.mit.edu 37 5 38445800 38445800 + Silent SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:38445800C>G uc003jlc.1 + 18 2808 c.2484C>G c.(2482-2484)CTC>CTG p.L828L EGFLAM_uc003jlb.1_Intron|EGFLAM_uc003jle.1_Intron|EGFLAM_uc003jlf.1_Intron|EGFLAM_uc003jlg.1_5'UTR NM_152403 NP_689616 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G 828 cell junction|proteinaceous extracellular matrix|synapse pancreas(3)|skin(3)|ovary(1) 7 all_lung(31;0.000385) ACTACTGCCTCAATAGTAAGT 0.567 Colon(62;485 1295 3347 17454) NA 28 158 0 0 0.007291 0 0 FAM81B 153643 broad.mit.edu 37 5 94727200 94727200 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:94727200C>A uc003kla.1 + 1 153 c.107C>A c.(106-108)GCA>GAA p.A36E FAM81B_uc010jbe.1_5'Flank NM_152548 NP_689761 Q96LP2 FA81B_HUMAN hypothetical protein LOC153643 36 ovary(1)|skin(1) 2 all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473) all cancers(79;1.04e-16) GCTGGAAAAGCAAGCATCATG 0.299 NA 13 95 2.32078e-09 3.06421e-09 0.003163 1 0 PDLIM4 8572 broad.mit.edu 37 5 131606626 131606626 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:131606626A>T uc003kwn.2 + 4 423 c.346A>T c.(346-348)AGC>TGC p.S116C uc003kwm.3_Intron|PDLIM4_uc003kwp.2_Missense_Mutation_p.S116C|PDLIM4_uc003kwo.2_Missense_Mutation_p.S116C NM_003687 NP_003678 P50479 PDLI4_HUMAN PDZ and LIM domain 4 isoform 1 116 protein binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCCAACAACCAGCAGGCGGCC 0.622 NA 25 100 0 0 0.002096 0 0 PSD2 84249 broad.mit.edu 37 5 139216500 139216500 + Missense_Mutation SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:139216500T>C uc003leu.1 + 10 1713 c.1508T>C c.(1507-1509)CTG>CCG p.L503P NM_032289 NP_115665 Q9BQI7 PSD2_HUMAN pleckstrin and Sec7 domain containing 2 503 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACCCCTTCCTGGATGTCCCA 0.592 NA 39 138 0 0 0.002522 0 0 PCDHA3 56145 broad.mit.edu 37 5 140181570 140181570 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:140181570C>T uc003lhf.2 + 1 788 c.788C>T c.(787-789)ACC>ATC p.T263I PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.T263I NM_018906 NP_061729 Q9Y5H8 PCDA3_HUMAN protocadherin alpha 3 isoform 1 precursor 263 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(6)|skin(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTAGTGGTGACCGTTAACGCC 0.408 NA 25 83 0 0 0.00333 0 0 PCDHA6 56142 broad.mit.edu 37 5 140207847 140207847 + Silent SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:140207847G>T uc003lho.2 + 1 198 c.171G>T c.(169-171)GCG>GCT p.A57A PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Silent_p.A57A|PCDHA6_uc011dab.1_Silent_p.A57A NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 57 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGAGCTGGCGGAGCTGGTGC 0.622 NA 10 105 2.27111e-07 2.78527e-07 0.001368 1 0 PCDHA7 56141 broad.mit.edu 37 5 140215062 140215062 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:140215062C>A uc003lhq.2 + 1 1094 c.1094C>A c.(1093-1095)CCA>CAA p.P365Q PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.P365Q NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 365 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACGCCCAACCAGGTACCGTC 0.507 NSCLC(160;258 2013 5070 22440 28951) NA 27 144 2.12542e-12 3.02083e-12 0.00632 1 0 PCDHB4 56131 broad.mit.edu 37 5 140503432 140503432 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:140503432G>C uc003lip.1 + 1 1852 c.1852G>C c.(1852-1854)GCG>CCG p.A618P NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN protocadherin beta 4 precursor 618 Cadherin 6.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGGCGTGTGGGCGCACAATGG 0.687 NA 11 75 0 0 0.001368 0 0 PCDHB7 56129 broad.mit.edu 37 5 140552708 140552708 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:140552708C>A uc003lit.2 + 1 466 c.292C>A c.(292-294)CCC>ACC p.P98T NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 98 Extracellular (Potential).|Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACTGTGTGGCCCCAGAGAGCC 0.443 NA 10 139 1.58986e-06 1.91511e-06 0.008291 1 0 PCDHB9 56127 broad.mit.edu 37 5 140567414 140567414 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:140567414C>A uc003liw.1 + 1 522 c.522C>A c.(520-522)TCC>TCA p.S174S NM_019119 NP_061992 Q9Y5E1 PCDB9_HUMAN protocadherin beta 9 precursor 174 Extracellular (Potential).|Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGATCAGCTCCAACTCTTTTT 0.418 NA 30 242 3.61848e-18 5.471e-18 0.007835 1 0 PCDHB9 56127 broad.mit.edu 37 5 140567665 140567665 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:140567665G>A uc003liw.1 + 1 773 c.773G>A c.(772-774)GGG>GAG p.G258E NM_019119 NP_061992 Q9Y5E1 PCDB9_HUMAN protocadherin beta 9 precursor 258 Extracellular (Potential).|Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGTCCAGTAGGGTCCCTTATT 0.448 NA 3 24 0 0 0.004672 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140710430 140710430 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:140710430C>A uc003lji.1 + 1 179 c.179C>A c.(178-180)GCA>GAA p.A60E PCDHGA1_uc011dan.1_Missense_Mutation_p.A60E NM_018912 NP_061735 Q9Y5H4 PCDG1_HUMAN protocadherin gamma subfamily A, 1 isoform 1 60 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|breast(1)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGGAGCTGGCAGATGGCGGA 0.582 NA 23 140 3.01185e-09 3.94915e-09 0.003954 1 0 PCDHGA3 56112 broad.mit.edu 37 5 140725293 140725293 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:140725293C>T uc003ljm.1 + 1 1693 c.1693C>T c.(1693-1695)CCC>TCC p.P565S PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Missense_Mutation_p.P325S|PCDHGA3_uc011dap.1_Missense_Mutation_p.P565S NM_018916 NP_061739 Q9Y5H0 PCDG3_HUMAN protocadherin gamma subfamily A, 3 isoform 1 565 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) GATCCTGTACCCCGCCCTCCC 0.662 NA 31 194 0 0 0.003755 0 0 PCDHGB2 56103 broad.mit.edu 37 5 140740422 140740422 + Silent SNP A A C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:140740422A>C uc003ljs.1 + 1 720 c.720A>C c.(718-720)CCA>CCC p.P240P 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_uc011dar.1_Silent_p.P240P NM_018923 NP_061746 Q9Y5G2 PCDGE_HUMAN protocadherin gamma subfamily B, 2 isoform 1 240 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATAACCCTCCAGTGTTCAGCC 0.562 NA 20 62 0 0 0.001882 0 0 PCDHGA5 56110 broad.mit.edu 37 5 140745978 140745978 + Missense_Mutation SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:140745978T>C uc003lju.1 + 1 2081 c.2081T>C c.(2080-2082)GTG>GCG p.V694A 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_uc011das.1_Missense_Mutation_p.V694A NM_018918 NP_061741 Q9Y5G8 PCDG5_HUMAN protocadherin gamma subfamily A, 5 isoform 1 694 Helical; (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCTATCTTGTGGTGGCAGTG 0.597 NA 14 370 0 0 0.008871 0 0 ARHGAP26 23092 broad.mit.edu 37 5 142586820 142586820 + Silent SNP G G A rs79503222 TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:142586820G>A uc011dbj.1 + 21 2081 c.2046G>A c.(2044-2046)GCG>GCA p.A682A ARHGAP26_uc003lmt.2_Silent_p.A682A|ARHGAP26_uc003lmw.2_Intron NM_015071 NP_055886 Q9UNA1 RHG26_HUMAN GTPase regulator associated with the focal 682 Ser-rich. actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding ovary(1) 1 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGTTCTCGGCGCCATCCAGCC 0.557 NA 6 109 0 0 0.00308 0 0 FBXO38 81545 broad.mit.edu 37 5 147818033 147818033 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:147818033G>A uc003lpf.1 + 18 3116 c.2996G>A c.(2995-2997)CGC>CAC p.R999H FBXO38_uc003lpg.1_Missense_Mutation_p.R924H|FBXO38_uc003lph.2_Missense_Mutation_p.R754H NM_205836 NP_995308 Q6PIJ6 FBX38_HUMAN F-box protein 38 isoform b 999 cytoplasm|nucleus ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGAGAAACCGCATCATATAC 0.408 NA 23 71 0 0 0.00333 0 0 PPARGC1B 133522 broad.mit.edu 37 5 149216497 149216497 + Missense_Mutation SNP G G A rs45628534 byFrequency TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:149216497G>A uc003lrc.2 + 8 2521 c.2479G>A c.(2479-2481)GTC>ATC p.V827I PPARGC1B_uc003lrb.1_Missense_Mutation_p.V827I|PPARGC1B_uc003lrd.2_Missense_Mutation_p.V788I|PPARGC1B_uc003lrf.2_Missense_Mutation_p.V806I|PPARGC1B_uc003lre.1_Missense_Mutation_p.V806I NM_133263 NP_573570 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor 827 estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) ggaCTCAGGGGTCAGCCCCAC 0.478 NA 5 99 0 0 0.000602 0 0 FAT2 2196 broad.mit.edu 37 5 150947284 150947284 + Silent SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:150947284A>G uc003lue.3 - 1 1222 c.1209T>C c.(1207-1209)AAT>AAC p.N403N GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Silent_p.N403N NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 403 Extracellular (Potential).|Cadherin 3. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TAAATCCTACATTCTCTGAAG 0.502 NA 14 77 0 0 0.00245 0 0 G3BP1 10146 broad.mit.edu 37 5 151173720 151173720 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:151173720G>T uc003lun.2 + 5 523 c.352G>T c.(352-354)GGG>TGG p.G118W G3BP1_uc003lum.2_Missense_Mutation_p.G118W|G3BP1_uc011dcu.1_Intron|G3BP1_uc010jhz.2_Intron|G3BP1_uc003luq.2_5'Flank NM_005754 NP_005745 Q13283 G3BP1_HUMAN Ras-GTPase-activating protein SH3-domain-binding 118 NTF2. Ras protein signal transduction|transport cytosol|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding skin(3)|ovary(1) 4 all_hematologic(541;0.0338)|Medulloblastoma(196;0.091) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) GGCATTGCAGGGGTCTGTTGC 0.343 NA 6 106 0.00198382 0.00213469 0.001984 1 0 SGCD 6444 broad.mit.edu 37 5 156186354 156186354 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:156186354G>T uc003lwd.3 + 8 1299 c.823G>T c.(823-825)GCA>TCA p.A275S SGCD_uc003lwc.3_Missense_Mutation_p.A276S NM_001128209 NP_001121681 Q92629 SGCD_HUMAN delta-sarcoglycan isoform 3 275 Extracellular (Potential). cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma 0 Renal(175;0.00488) Medulloblastoma(196;0.0378)|all_neural(177;0.106) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CCTGTCTCAGGCAGGAGCTGG 0.498 NA 13 100 6.31663e-08 7.95241e-08 0.003163 1 0 CPEB4 80315 broad.mit.edu 37 5 173376573 173376573 + Nonsense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:173376573G>T uc003mcs.3 + 6 2925 c.1519G>T c.(1519-1521)GAG>TAG p.E507* CPEB4_uc010jju.1_Nonsense_Mutation_p.E482*|CPEB4_uc010jjv.2_Nonsense_Mutation_p.E490*|CPEB4_uc011dfg.1_Nonsense_Mutation_p.E482*|CPEB4_uc003mct.3_Nonsense_Mutation_p.E117*|CPEB4_uc003mcu.3_Nonsense_Mutation_p.E100* NM_030627 NP_085130 Q17RY0 CPEB4_HUMAN cytoplasmic polyadenylation element binding 507 RRM 1. nucleotide binding|RNA binding 0 Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) TCATAAAGCTGAGAGCAAATC 0.323 NA 6 79 0.00198382 0.00213469 0.001984 1 0 SNCB 6620 broad.mit.edu 37 5 176053505 176053505 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:176053505G>T uc003mep.2 - 5 619 c.176C>A c.(175-177)ACC>AAC p.T59N SNCB_uc003meq.2_Missense_Mutation_p.T59N|SNCB_uc010jke.1_Missense_Mutation_p.P127T NM_001001502 NP_001001502 Q16143 SYUB_HUMAN beta-synuclein 59 4.|4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4). calcium ion binding|phospholipase inhibitor activity ovary(1) 1 all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.00498)|all_neural(177;0.0212) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTGTTCCTTGGTTTTTTCAGC 0.592 NA 4 63 0.00909568 0.00959144 0.009096 1 0 TRIM52 84851 broad.mit.edu 37 5 180687616 180687616 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:180687616C>T uc003mnp.2 - 1 504 c.199G>A c.(199-201)GAG>AAG p.E67K uc003mnq.2_5'Flank NM_032765 NP_116154 Q96A61 TRI52_HUMAN tripartite motif-containing 52 67 Glu-rich. intracellular zinc ion binding 0 all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654) all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.232) tcctcgtcctcctcctcctcc 0.403 NA 4 104 0 0 0.009096 0 0 SSR1 6745 broad.mit.edu 37 6 7301605 7301605 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:7301605C>G uc003mxf.3 - 4 669 c.481G>C c.(481-483)GCA>CCA p.A161P SSR1_uc003mxg.3_Intron|SSR1_uc010jny.2_Missense_Mutation_p.A161P NM_003144 NP_003135 P43307 SSRA_HUMAN signal sequence receptor, alpha precursor 161 Lumenal (Potential). cotranslational protein targeting to membrane|positive regulation of cell proliferation endoplasmic reticulum membrane|integral to membrane signal sequence binding 0 Ovarian(93;0.0398) ATGGGCTCTGCAGGAATGAAA 0.428 NA 3 73 0 0 0.004672 0 0 TFAP2A 7020 broad.mit.edu 37 6 10398916 10398916 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:10398916C>A uc003myr.2 - 7 1300 c.1048G>T c.(1048-1050)GAC>TAC p.D350Y TFAP2A_uc003myq.2_Missense_Mutation_p.D344Y|TFAP2A_uc003mys.2_RNA|TFAP2A_uc011dih.1_Silent_p.P302P|TFAP2A_uc003myt.2_Missense_Mutation_p.D346Y NM_003220 NP_003211 P05549 AP2A_HUMAN transcription factor AP-2 alpha isoform a 350 H-S-H (helix-span-helix), dimerization. ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter centrosome|Golgi apparatus|nucleus chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding ovary(1) 1 Breast(50;0.0427)|Ovarian(93;0.0991) all_hematologic(90;0.107) GCCAGCAGGTCGGTGAACTCT 0.567 NA 50 244 3.28156e-27 5.34521e-27 0.00361 1 0 PHACTR1 221692 broad.mit.edu 37 6 13206311 13206311 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:13206311G>A uc010jpc.2 + 8 1261 c.929G>A c.(928-930)TGC>TAC p.C310Y PHACTR1_uc011dir.1_Missense_Mutation_p.C379Y|PHACTR1_uc003nag.1_Missense_Mutation_p.C310Y|PHACTR1_uc003nah.1_Missense_Mutation_p.C310Y NM_030948 NP_112210 Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 310 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity 0 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) CCCTCGGGCTGCAGAATGATA 0.637 NA 4 25 0 0 0.000602 0 0 KDM1B 221656 broad.mit.edu 37 6 18166609 18166609 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:18166609G>T uc003ncn.1 + 6 658 c.417G>T c.(415-417)TGG>TGT p.W139C NM_153042 NP_694587 Q8NB78 KDM1B_HUMAN amine oxidase (flavin containing) domain 1 139 CW-type. multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding skin(1) 1 TCCCCTACTGGGTAAGGAGAG 0.408 NA 11 54 2.27111e-07 2.78527e-07 0.001368 1 0 DCDC2 51473 broad.mit.edu 37 6 24357729 24357729 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:24357729C>A uc003ndx.2 - 1 552 c.250G>T c.(250-252)GGC>TGC p.G84C DCDC2_uc003ndy.2_Missense_Mutation_p.G84C|KAAG1_uc003ndz.1_5'UTR NM_016356 NP_057440 Q9UHG0 DCDC2_HUMAN doublecortin domain containing 2 84 Doublecortin 1. cellular defense response|intracellular signal transduction|neuron migration ovary(1) 1 Ovarian(999;0.101) ACGTAATTGCCCCCGCTCTGG 0.612 NA 13 61 1.05317e-09 1.40819e-09 0.00245 1 0 HIST1H1B 3009 broad.mit.edu 37 6 27835161 27835161 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:27835161C>A uc003njx.2 - 1 199 c.147G>T c.(145-147)AAG>AAT p.K49N NM_005322 NP_005313 P16401 H15_HUMAN histone cluster 1, H1b 49 H15. nucleosome assembly nucleosome|nucleus DNA binding large_intestine(2)|lung(1) 3 CAGCCACAGCCTTGGTGATCA 0.592 NA 7 159 0.00307968 0.00329147 0.00308 1 0 ZFP57 346171 broad.mit.edu 37 6 29643264 29643264 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:29643264G>A uc011dlw.1 - 3 402 c.251C>T c.(250-252)GCC>GTC p.A84V ZFP57_uc003nnl.3_Missense_Mutation_p.A64V NM_001109809 NP_001103279 Q9NU63 ZFP57_HUMAN zinc finger protein 57 homolog 56 KRAB. DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding ovary(3)|skin(2) 5 AAAGATTCTGGCTGATGTGTG 0.478 NA 19 187 0 0 0.006122 0 0 PPP1R10 5514 broad.mit.edu 37 6 30571379 30571379 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:30571379G>T uc003nqn.1 - 16 2189 c.1637C>A c.(1636-1638)CCT>CAT p.P546H PPP1R10_uc010jsc.1_Missense_Mutation_p.P200H NM_002714 NP_002705 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 546 Gly-rich.|Interaction with WDR82 (By similarity). protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding ovary(2)|lung(1)|kidney(1) 4 TGCCCCATCAGGTGAGCCACC 0.537 NA 33 224 6.03168e-27 9.80795e-27 0.004878 1 0 PPT2 9374 broad.mit.edu 37 6 32125471 32125471 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:32125471G>C uc003nzx.2 + 6 1167 c.599G>C c.(598-600)GGG>GCG p.G200A PPT2_uc003nzw.2_Missense_Mutation_p.G206A|PPT2_uc011dpi.1_RNA|PPT2_uc003nzy.1_RNA|PPT2_uc003nzz.2_Missense_Mutation_p.G200A|PPT2_uc003oaa.2_Missense_Mutation_p.G200A|PPT2_uc010jtu.1_Missense_Mutation_p.G200A NM_005155 NP_005146 Q9UMR5 PPT2_HUMAN palmitoyl-protein thioesterase 2 isoform a 200 protein modification process lysosome palmitoyl-(protein) hydrolase activity 0 CTGATCAATGGGGAAAGAGAC 0.507 NA 3 77 0 0 0.009096 0 0 NOTCH4 4855 broad.mit.edu 37 6 32169153 32169153 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:32169153C>G uc003obb.2 - 22 4019 c.3880G>C c.(3880-3882)GGG>CGG p.G1294R NOTCH4_uc003oba.2_5'UTR|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA NM_004557 NP_004548 Q99466 NOTC4_HUMAN notch4 preproprotein 1294 LNR 3.|Extracellular (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1) 22 AGGGAGGGCCCCCACTCTGGG 0.632 NA 16 46 0 0 0.001882 0 0 C6orf222 389384 broad.mit.edu 37 6 36285159 36285159 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:36285159T>A uc003oly.2 - 12 2111 c.1933A>T c.(1933-1935)AGT>TGT p.S645C NM_001010903 NP_001010903 P0C671 CF222_HUMAN hypothetical protein LOC389384 645 skin(2)|ovary(1)|breast(1) 4 ACCTTAGGACTTGTGATGTTC 0.423 NA 7 156 0 0 0.00308 0 0 DNAH8 1769 broad.mit.edu 37 6 38775449 38775449 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:38775449C>T uc003ooe.1 + 22 3163 c.2563C>T c.(2563-2565)CGG>TGG p.R855W NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 AAAAGCTACACGGTTATCTCT 0.328 NA 20 108 0 0 0.010504 0 0 DNAH8 1769 broad.mit.edu 37 6 38850818 38850818 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:38850818A>G uc003ooe.1 + 52 7940 c.7340A>G c.(7339-7341)AAA>AGA p.K2447R NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 ACCATTGCAAAACAACATAAA 0.323 NA 4 107 0 0 0.000602 0 0 HSP90AB1 3326 broad.mit.edu 37 6 44221076 44221076 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:44221076C>T uc003oxa.1 + 11 2110 c.2026C>T c.(2026-2028)CAC>TAC p.H676Y HSP90AB1_uc011dvr.1_Missense_Mutation_p.H666Y|HSP90AB1_uc003oxb.1_Missense_Mutation_p.H676Y|HSP90AB1_uc011dvs.1_Missense_Mutation_p.H496Y|HSP90AB1_uc003oxc.1_Missense_Mutation_p.H314Y NM_007355 NP_031381 P08238 HS90B_HUMAN heat shock 90kDa protein 1, beta 676 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding lung(3)|breast(1) 4 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TCCCCAGACCCACTCCAACCG 0.502 NA 75 466 0 0 0.00361 0 0 TCTE1 202500 broad.mit.edu 37 6 44255481 44255481 + Nonsense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:44255481C>A uc003oxi.2 - 2 238 c.82G>T c.(82-84)GGA>TGA p.G28* SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron NM_182539 NP_872345 Q5JU00 TCTE1_HUMAN t-complex-associated testis expressed 1 28 ovary(2)|skin(2) 4 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GAAGTGTGTCCTCCAGTGGAG 0.552 NA 13 70 7.03913e-09 9.14122e-09 0.001368 1 0 GPR115 221393 broad.mit.edu 37 6 47676002 47676002 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:47676002G>A uc003oza.1 + 3 394 c.136G>A c.(136-138)GGA>AGA p.G46R GPR115_uc003oyz.1_Missense_Mutation_p.G103R|GPR115_uc003ozb.1_Missense_Mutation_p.G44R NM_153838 NP_722580 Q8IZF3 GP115_HUMAN G-protein coupled receptor 115 precursor 46 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1) 8 ACCCAAGACTGGAAGGATCCA 0.458 GBM(22;431 510 9010 26644 32828) NA 16 41 0 0 0.010504 0 0 MUT 4594 broad.mit.edu 37 6 49403211 49403211 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:49403211C>T uc003ozg.3 - 12 2337 c.2082G>A c.(2080-2082)CGG>CGA p.R694R NM_000255 NP_000246 P22033 MUTA_HUMAN methylmalonyl Coenzyme A mutase precursor 694 B12-binding. R -> W (in MMAM; mut- and mut0). fatty acid beta-oxidation mitochondrial matrix cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity 0 Lung NSC(77;0.0376) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GAATATCTGGCCGTCCAAGGG 0.448 NA 4 56 0 0 0.009096 0 0 TINAG 27283 broad.mit.edu 37 6 54185441 54185441 + Splice_Site SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:54185441G>T uc003pcj.2 + 2 565 c.419_splice c.e2+1 p.C140_splice TINAG_uc003pci.2_Missense_Mutation_p.W140C|TINAG_uc010jzt.2_Intron NM_014464 NP_055279 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity ovary(3)|central_nervous_system(1) 4 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) GCAACTCCTGGTAATAAATTT 0.308 NA 29 54 2.81731e-10 3.83738e-10 0.002096 1 0 COL9A1 1297 broad.mit.edu 37 6 70961991 70961991 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:70961991C>A uc003pfg.3 - 27 1951 c.1792G>T c.(1792-1794)GGT>TGT p.G598C COL9A1_uc003pfe.3_Missense_Mutation_p.G171C|COL9A1_uc003pff.3_Missense_Mutation_p.G355C NM_001851 NP_001842 P20849 CO9A1_HUMAN alpha 1 type IX collagen isoform 1 precursor 598 Triple-helical region (COL2). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding ovary(4) 4 CCCATCTGACCAGGCTTCCCT 0.428 NA 7 85 0.00307968 0.00329147 0.00308 1 0 CD109 135228 broad.mit.edu 37 6 74407145 74407145 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:74407145C>A uc003php.2 + 2 522 c.97C>A c.(97-99)CCA>ACA p.P33T CD109_uc010kaz.2_Missense_Mutation_p.P33T|CD109_uc003phq.2_Missense_Mutation_p.P33T|CD109_uc010kba.2_Missense_Mutation_p.P33T|uc003pho.1_5'Flank NM_133493 NP_598000 Q6YHK3 CD109_HUMAN CD109 antigen isoform 1 precursor 33 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity large_intestine(2)|ovary(2) 4 GGTGACAGCCCCAGGGATCAT 0.507 NA 22 133 7.33628e-21 1.14576e-20 0.002299 1 0 TMEM30A 55754 broad.mit.edu 37 6 75969072 75969072 + Nonsense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:75969072G>A uc003phw.2 - 5 954 c.676C>T c.(676-678)CGA>TGA p.R226* TMEM30A_uc003phx.2_Nonsense_Mutation_p.R190* NM_018247 NP_060717 Q9NV96 CC50A_HUMAN transmembrane protein 30A isoform 1 226 integral to membrane 0 CCTTTAAATCGTTCTTCCAGG 0.308 NA 42 112 0 0 0.00361 0 0 IMPG1 3617 broad.mit.edu 37 6 76751728 76751728 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:76751728G>T uc003pik.1 - 2 313 c.183C>A c.(181-183)TTC>TTA p.F61L NM_001563 NP_001554 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 61 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) TTGCCAAATCGAATATTCGTC 0.368 Pancreas(37;839 1141 2599 26037) NA 54 85 2.31418e-15 3.43325e-15 0.00361 1 0 SPACA1 81833 broad.mit.edu 37 6 88773939 88773939 + Splice_Site SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:88773939T>A uc003pmn.2 + 6 848 c.731_splice c.e6+2 p.W244_splice NM_030960 NP_112222 Q9HBV2 SACA1_HUMAN sperm acrosome associated 1 precursor integral to membrane 0 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.11) CATAAATTGGTAGGTGAATAG 0.413 NA 11 101 0 0 0.001855 0 0 CASP8AP2 9994 broad.mit.edu 37 6 90577282 90577282 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:90577282G>T uc003pnr.2 + 8 4469 c.4273G>T c.(4273-4275)GTA>TTA p.V1425L CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.V1425L|CASP8AP2_uc011dzz.1_Missense_Mutation_p.V1425L NM_001137667 NP_001131139 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 1425 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity ovary(2) 2 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) TGTGTGTAGTGTAGAAAAGAG 0.408 Colon(187;1656 2025 17045 31481 39901) NA 36 75 4.11147e-13 5.92352e-13 0.003755 1 0 FHL5 9457 broad.mit.edu 37 6 97058635 97058635 + Splice_Site SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:97058635G>T uc003pos.1 + 6 1096 c.691_splice c.e6+1 p.G231_splice FHL5_uc003pot.1_Splice_Site_p.G231_splice NM_020482 NP_065228 Q5TD97 FHL5_HUMAN activator of cAMP-responsive element modulator nucleus zinc ion binding ovary(2) 2 all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204) BRCA - Breast invasive adenocarcinoma(108;0.0948) CCCATTAGTGGTGAGTTCTTC 0.388 NA 22 115 5.35356e-11 7.40901e-11 0.00278 1 0 ASCC3 10973 broad.mit.edu 37 6 101053528 101053528 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:101053528T>A uc003pqk.2 - 33 5422 c.5093A>T c.(5092-5094)CAA>CTA p.Q1698L NM_006828 NP_006819 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 1698 Helicase C-terminal 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(5)|skin(1) 6 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) AGCTTTGCCTTGGTCATCGAA 0.373 NA 8 32 0 0 0.00308 0 0 HDAC2 3066 broad.mit.edu 37 6 114281153 114281153 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:114281153C>G uc003pwd.1 - 2 364 c.364G>C c.(364-366)GGT>CGT p.G122R HDAC2_uc003pwc.1_5'UTR|HDAC2_uc003pwe.1_5'UTR NM_001527 NP_001518 Q92769 HDAC2_HUMAN histone deacetylase 2 28 Histone deacetylase. blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding skin(2)|ovary(1)|central_nervous_system(1) 4 all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24) all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832) Vorinostat(DB02546) ATGGGATGACCCTGTCCATAA 0.323 NA 4 100 0 0 0.001168 0 0 HS3ST5 222537 broad.mit.edu 37 6 114378677 114378677 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:114378677G>T uc003pwg.3 - 2 817 c.785C>A c.(784-786)CCT>CAT p.P262H uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Missense_Mutation_p.P262H NM_153612 NP_705840 Q8IZT8 HS3S5_HUMAN heparan sulfate (glucosamine) 262 Lumenal (Potential). heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding ovary(1)|pancreas(1) 2 all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154) OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143) TTCTGGCAGAGGTTCCGTGAT 0.433 NA 43 118 1.22674e-20 1.90961e-20 0.00874 1 0 GPRC6A 222545 broad.mit.edu 37 6 117114013 117114013 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:117114013A>T uc003pxj.1 - 6 2095 c.2073T>A c.(2071-2073)GAT>GAA p.D691E GPRC6A_uc003pxk.1_Missense_Mutation_p.D516E|GPRC6A_uc003pxl.1_Missense_Mutation_p.D620E NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, 691 Cytoplasmic (Potential). response to amino acid stimulus G-protein coupled receptor activity ovary(4)|skin(2) 6 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) GTAATTTGGGATCAAAGCTGA 0.418 NA 22 66 0 0 0.001882 0 0 SLC35F1 222553 broad.mit.edu 37 6 118475609 118475609 + Nonsense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:118475609G>T uc003pxx.3 + 2 376 c.175G>T c.(175-177)GAG>TAG p.E59* NM_001029858 NP_001025029 Q5T1Q4 S35F1_HUMAN solute carrier family 35, member F1 59 transport integral to membrane breast(1) 1 GBM - Glioblastoma multiforme(226;0.217) ATTTCTCAGGGAGATGTTAAT 0.338 NA 17 183 5.3912e-06 6.39657e-06 0.006122 1 0 LAMA2 3908 broad.mit.edu 37 6 129571288 129571289 + Missense_Mutation DNP CC CC AA rs112388307 byFrequency TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:129571288_129571289CC>AA uc003qbn.2 + 13 1919_1920 c.1814_1815CC>AA c.(1813-1815)ACC>AAA p.T605K LAMA2_uc003qbo.2_Missense_Mutation_p.T605K NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 605 Laminin IV type A 1. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TTGACATTTACCATATCATATG 0.401 NA 56 100 0 0 0.004672 0 0 LAMA2 3908 broad.mit.edu 37 6 129833584 129833584 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:129833584G>A uc003qbn.2 + 62 9039 c.8934G>A c.(8932-8934)CTG>CTA p.L2978L LAMA2_uc003qbo.2_Silent_p.L2974L|uc003qbq.2_Intron NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 2978 Laminin G-like 5. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GAGTTCTTCTGGGGATCAGTA 0.358 NA 21 225 0 0 0.003954 0 0 TAAR6 319100 broad.mit.edu 37 6 132891677 132891677 + Missense_Mutation SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:132891677T>C uc011eck.1 + 1 217 c.217T>C c.(217-219)TCT>CCT p.S73P NM_175067 NP_778237 Q96RI8 TAAR6_HUMAN trace amine associated receptor 6 73 Helical; Name=2; (Potential). plasma membrane G-protein coupled receptor activity ovary(2)|skin(1) 3 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792) TCTCGTTGCCTCTCTGGCCTG 0.522 NA 39 157 0 0 0.002522 0 0 ALDH8A1 64577 broad.mit.edu 37 6 135253996 135253996 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:135253996C>T uc003qew.2 - 5 820 c.767G>A c.(766-768)GGC>GAC p.G256D ALDH8A1_uc003qex.2_Missense_Mutation_p.G256D|ALDH8A1_uc010kgh.2_Missense_Mutation_p.G88D|ALDH8A1_uc011ecx.1_Missense_Mutation_p.G206D NM_022568 NP_072090 Q9H2A2 AL8A1_HUMAN aldehyde dehydrogenase 8A1 isoform 1 256 retinal metabolic process cytoplasm retinal dehydrogenase activity ovary(2)|pancreas(1)|skin(1) 4 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058) AGGATTCTTGCCCCCCAGCTC 0.622 NA 5 135 0 0 0.000602 0 0 BCLAF1 9774 broad.mit.edu 37 6 136597009 136597009 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:136597009C>A uc003qgx.1 - 5 1907 c.1654G>T c.(1654-1656)GCA>TCA p.A552S BCLAF1_uc003qgw.1_Missense_Mutation_p.A379S|BCLAF1_uc003qgy.1_Missense_Mutation_p.A550S|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.A550S NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 552 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) GGAACAGGTGCCATTTTGAGT 0.403 Colon(142;1534 1789 5427 7063 28491) NA 17 281 2.94398e-08 3.7512e-08 0.007413 1 0 HIVEP2 3097 broad.mit.edu 37 6 143091689 143091690 + Missense_Mutation DNP CC CC AA TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:143091689_143091690CC>AA uc003qjd.2 - 5 4929_4930 c.4186_4187GG>TT c.(4186-4188)GGG>TTG p.G1396L NM_006734 NP_006725 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer 1396 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) CGCATGCTGCCCCAGCACCTGG 0.52 Esophageal Squamous(107;843 1510 13293 16805 42198) NA 11 80 0 0 0.004672 0 0 UTRN 7402 broad.mit.edu 37 6 144863971 144863971 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:144863971A>T uc003qkt.2 + 45 6652 c.6560A>T c.(6559-6561)CAG>CTG p.Q2187L NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 2187 muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) GAATGCATCCAGGAGCCCAGT 0.368 NA 3 38 0 0 0.009096 0 0 GRM1 2911 broad.mit.edu 37 6 146720216 146720216 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:146720216C>G uc010khw.1 + 8 2511 c.2041C>G c.(2041-2043)CGT>GGT p.R681G GRM1_uc010khv.1_Missense_Mutation_p.R681G|GRM1_uc003qll.2_Missense_Mutation_p.R681G|GRM1_uc011edz.1_Missense_Mutation_p.R681G|GRM1_uc011eea.1_Missense_Mutation_p.R681G NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 681 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) TAAAACCAATCGTATTGCACG 0.527 NA 5 376 0 0 0.000602 0 0 SASH1 23328 broad.mit.edu 37 6 148855994 148855994 + Missense_Mutation SNP A A C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:148855994A>C uc003qme.1 + 16 2527 c.2052A>C c.(2050-2052)AGA>AGC p.R684S SASH1_uc011eeb.1_Missense_Mutation_p.R445S|SASH1_uc003qmf.1_Missense_Mutation_p.R94S NM_015278 NP_056093 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 684 SAM 1. protein binding central_nervous_system(1) 1 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) CGGAACACAGAGCTGTTCTCT 0.498 NA 31 101 0 0 0.002096 0 0 TAB2 23118 broad.mit.edu 37 6 149700627 149700627 + Nonsense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:149700627G>T uc003qmj.2 + 3 1754 c.1576G>T c.(1576-1578)GGA>TGA p.G526* TAB2_uc011eec.1_Nonsense_Mutation_p.G494*|TAB2_uc010kia.1_Nonsense_Mutation_p.G526*|TAB2_uc010kib.1_Nonsense_Mutation_p.G526*|TAB2_uc003qmk.3_RNA NM_015093 NP_055908 Q9NYJ8 TAB2_HUMAN mitogen-activated protein kinase kinase kinase 7 526 activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane K63-linked polyubiquitin binding|zinc ion binding 0 ACTGAGTATGGGATCTGATGA 0.418 NA 49 107 6.23363e-37 1.02774e-36 0.00361 1 0 TTLL2 83887 broad.mit.edu 37 6 167754801 167754801 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:167754801G>A uc003qvs.1 + 3 1501 c.1413G>A c.(1411-1413)GTG>GTA p.V471V TTLL2_uc011egr.1_RNA NM_031949 NP_114155 Q9BWV7 TTLL2_HUMAN tubulin tyrosine ligase-like family, member 2 471 protein modification process ATP binding|tubulin-tyrosine ligase activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) ATGACTCTGTGGTGGAGAAAG 0.507 NA 13 99 0 0 0.004007 0 0 SDK1 221935 broad.mit.edu 37 7 4153888 4153888 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:4153888G>T uc003smx.2 + 25 3944 c.3805G>T c.(3805-3807)GGC>TGC p.G1269C SDK1_uc010kso.2_Missense_Mutation_p.G545C NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 1269 Fibronectin type-III 6. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GGTGGTGCGGGGCCGGACGCG 0.637 NA 6 18 2.0095e-06 2.40531e-06 0.001984 1 0 WIPI2 26100 broad.mit.edu 37 7 5239290 5239290 + Splice_Site SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:5239290G>A uc003snv.2 + 3 427 c.211_splice c.e3+1 p.T71_splice WIPI2_uc003snw.2_Splice_Site_p.T71_splice|WIPI2_uc003snx.2_Splice_Site_p.T53_splice|WIPI2_uc003sny.2_Splice_Site_p.T53_splice|WIPI2_uc010ksv.2_Splice_Site NM_015610 NP_056425 Q9Y4P8 WIPI2_HUMAN WD repeat domain, phosphoinositide interacting 2 autophagic vacuole assembly cytosol|PAS complex|pre-autophagosomal structure membrane phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding ovary(2) 2 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14) TATGAATGCAGTAAGTGTTTG 0.363 NA 5 174 0 0 0.001168 0 0 NDUFA4 4697 broad.mit.edu 37 7 10978447 10978447 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:10978447T>A uc003srx.1 - 2 248 c.119A>T c.(118-120)AAT>ATT p.N40I NM_002489 NP_002480 O00483 NDUA4_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha 40 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity 0 UCEC - Uterine corpus endometrioid carcinoma (126;0.177) NADH(DB00157) AACATCTGGATTGAACAATGC 0.343 NA 3 68 0 0 0.004672 0 0 ETV1 2115 broad.mit.edu 37 7 13971169 13971169 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:13971169G>A uc011jxq.1 - 9 1499 c.760C>T c.(760-762)CTG>TTG p.L254L ETV1_uc011jxn.1_Silent_p.L214L|ETV1_uc011jxo.1_Silent_p.L151L|ETV1_uc011jxp.1_Silent_p.L196L|ETV1_uc003ssw.3_Silent_p.L254L|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Silent_p.L236L|ETV1_uc011jxs.1_Silent_p.L236L|ETV1_uc010ktv.2_Silent_p.L123L NM_004956 NP_004947 P50549 ETV1_HUMAN ets variant gene 1 isoform a 254 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(24)|EWSR1/ETV1(7) prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1) 35 TTAATCATCAGAGGAGGGGGA 0.512 NA T EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3 Ewing sarcoma|prostate 7 67 0 0 0.00308 0 0 HOXA7 3204 broad.mit.edu 37 7 27196009 27196009 + Silent SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:27196009C>G uc003sys.2 - 1 288 c.156G>C c.(154-156)CCG>CCC p.P52P NM_006896 NP_008827 P31268 HXA7_HUMAN homeobox A7 52 angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter sequence-specific DNA binding|transcription factor binding 0 TGTATAAGCCCGGAACGGTCG 0.642 NA 8 90 0 0 0.004482 0 0 HOXA10 3206 broad.mit.edu 37 7 27213858 27213858 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:27213858C>A uc011jzm.1 - 1 98 c.68G>T c.(67-69)AGC>ATC p.S23I HOXA10_uc003syw.3_Intron NM_018951 NP_061824 P31260 HXA10_HUMAN homeobox A10 isoform a 23 spermatogenesis protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CGCGGCGGGGCTCTCCGAGCA 0.413 NA 8 25 0.000673444 0.000742355 0.008291 1 0 EVX1 2128 broad.mit.edu 37 7 27284799 27284799 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:27284799G>T uc003szd.1 + 2 1046 c.560G>T c.(559-561)CGC>CTC p.R187L EVX1_uc011jzn.1_Missense_Mutation_p.R5L|EVX1_uc010kuy.1_Missense_Mutation_p.A169S NM_001989 NP_001980 P49640 EVX1_HUMAN even-skipped homeobox 1 187 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 CGTCGTTACCGCACCGCCTTC 0.662 NA 22 84 1.55469e-16 2.32836e-16 0.00333 1 0 HECW1 23072 broad.mit.edu 37 7 43484383 43484383 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:43484383C>A uc003tid.1 + 11 2217 c.1612C>A c.(1612-1614)CCT>ACT p.P538T HECW1_uc011kbi.1_Missense_Mutation_p.P538T NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 538 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 CTGCTCCTTGCCTGTGTCCGA 0.597 NA 14 48 1.15088e-07 1.42432e-07 0.004007 1 0 CCM2 83605 broad.mit.edu 37 7 45108125 45108125 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:45108125G>A uc003tmo.2 + 5 702 c.556G>A c.(556-558)GCA>ACA p.A186T CCM2_uc003tmn.2_RNA|CCM2_uc003tmp.2_Missense_Mutation_p.A128T|CCM2_uc003tmq.2_RNA|CCM2_uc003tmr.2_Intron|CCM2_uc011kcb.1_Missense_Mutation_p.A149T|CCM2_uc011kcc.1_Intron|CCM2_uc003tms.2_Missense_Mutation_p.A207T NM_031443 NP_113631 Q9BSQ5 CCM2_HUMAN cerebral cavernous malformation 2 isoform 2 186 PID. endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis cytoplasm protein binding 0 GTCGGAGAGTGCAGTTGGGCC 0.612 NA Familial_Cerebral_Cavernous_Angioma 4 91 0 0 0.000602 0 0 UPP1 7378 broad.mit.edu 37 7 48142902 48142902 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:48142902G>T uc003toj.2 + 7 859 c.330G>T c.(328-330)ATG>ATT p.M110I UPP1_uc003tok.2_Missense_Mutation_p.M110I|UPP1_uc003tol.2_Missense_Mutation_p.M110I|UPP1_uc011kcg.1_Missense_Mutation_p.M110I|UPP1_uc011kch.1_Intron|UPP1_uc003ton.2_Intron|UPP1_uc003too.2_Intron NM_181597 NP_853628 Q16831 UPP1_HUMAN uridine phosphorylase 1 110 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage cytosol uridine phosphorylase activity 0 AGCATGGTATGGGCATTCCTT 0.453 NA 11 71 5.50884e-06 6.51169e-06 0.001368 1 0 ABCA13 154664 broad.mit.edu 37 7 48390351 48390351 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:48390351T>A uc003toq.2 + 30 10341 c.10316T>A c.(10315-10317)CTG>CAG p.L3439Q ABCA13_uc010kys.1_Missense_Mutation_p.L513Q|ABCA13_uc003tos.1_Missense_Mutation_p.L265Q NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 3439 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 TTCCAGGCTCTGCAGTCTGTC 0.488 NA 22 93 0 0 0.002299 0 0 CROT 54677 broad.mit.edu 37 7 87022321 87022321 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:87022321G>T uc003uit.2 + 17 1901 c.1656G>T c.(1654-1656)CAG>CAT p.Q552H CROT_uc003uiu.2_Missense_Mutation_p.Q580H NM_021151 NP_066974 Q9UKG9 OCTC_HUMAN peroxisomal carnitine O-octanoyltransferase 552 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport peroxisomal matrix carnitine O-octanoyltransferase activity ovary(2)|lung(1) 3 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) L-Carnitine(DB00583) TACGAGTCCAGGGAGTGGTAG 0.418 NA 68 262 2.40655e-23 3.85374e-23 0.00361 1 0 ABCB4 5244 broad.mit.edu 37 7 87032462 87032462 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:87032462C>T uc003uiv.1 - 27 3719 c.3643G>A c.(3643-3645)GAA>AAA p.E1215K ABCB4_uc003uiw.1_Missense_Mutation_p.E1208K|ABCB4_uc003uix.1_Missense_Mutation_p.E1161K NM_018849 NP_061337 P21439 MDR3_HUMAN ATP-binding cassette, subfamily B, member 4 1215 ABC transporter 2.|Cytoplasmic (By similarity). cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity ovary(4)|skin(1)|pancreas(1) 6 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) TTTTCACTTTCAGTATCCAGA 0.428 NA 46 218 0 0 0.00361 0 0 ABCB1 5243 broad.mit.edu 37 7 87179872 87179872 + Nonsense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:87179872G>T uc003uiz.1 - 12 1554 c.1136C>A c.(1135-1137)TCG>TAG p.S379* ABCB1_uc011khc.1_Nonsense_Mutation_p.S315* NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 379 Cytoplasmic (Potential). G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) CCCACTCTTCGAATAGCTGTC 0.333 NA 18 90 1.99824e-07 2.46017e-07 0.00499 1 0 ZNF804B 219578 broad.mit.edu 37 7 88962744 88962744 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:88962744A>T uc011khi.1 + 4 986 c.448A>T c.(448-450)ATT>TTT p.I150F NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 150 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) CCAGCAAGGAATTTTCCCCAT 0.393 NA HNSCC(36;0.09) 18 52 0 0 0.007413 0 0 ZNF804B 219578 broad.mit.edu 37 7 88966056 88966056 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:88966056A>G uc011khi.1 + 4 4298 c.3760A>G c.(3760-3762)ACC>GCC p.T1254A NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1254 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TCTGACTCCAACCATTATCCC 0.478 NA HNSCC(36;0.09) 8 211 0 0 0.001368 0 0 STEAP1 26872 broad.mit.edu 37 7 89790136 89790136 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:89790136G>C uc003ujx.2 + 3 302 c.102G>C c.(100-102)GAG>GAC p.E34D STEAP1_uc010lem.2_Missense_Mutation_p.E34D NM_012449 NP_036581 Q9UHE8 STEA1_HUMAN six transmembrane epithelial antigen of the 34 electron transport chain|ion transport|iron ion homeostasis cell-cell junction|endosome membrane|integral to plasma membrane channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity 0 all_hematologic(106;0.112) ACACGGGAGAGACCAGCATGC 0.388 NA 19 154 0 0 0.010504 0 0 SAMD9 54809 broad.mit.edu 37 7 92733059 92733059 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:92733059C>A uc003umf.2 - 3 2608 c.2352G>T c.(2350-2352)GGG>GGT p.G784G SAMD9_uc003umg.2_Silent_p.G784G NM_017654 NP_060124 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 784 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) GGTTCATTGCCCCATAGGTGA 0.388 NA 37 168 2.52637e-11 3.52206e-11 0.005524 1 0 TRRAP 8295 broad.mit.edu 37 7 98574387 98574387 + Silent SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:98574387G>T uc003upp.2 + 54 8429 c.8220G>T c.(8218-8220)CCG>CCT p.P2740P TRRAP_uc011kis.1_Silent_p.P2722P|TRRAP_uc003upr.2_Silent_p.P2439P NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 2740 FAT. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TCACCCCGCCGCAGCAGGTGA 0.478 NA 10 84 1.58986e-06 1.91511e-06 0.008291 1 0 AZGP1 563 broad.mit.edu 37 7 99565973 99565973 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:99565973C>T uc003ush.2 - 3 462 c.418G>A c.(418-420)GAT>AAT p.D140N NM_001185 NP_001176 P25311 ZA2G_HUMAN alpha-2-glycoprotein 1, zinc 140 antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation extracellular region|MHC class I protein complex fatty acid binding|protein transmembrane transporter activity|ribonuclease activity ovary(1)|central_nervous_system(1) 2 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) TCCTTTCCATCATAGTAATAT 0.498 NA 8 474 0 0 0.004482 0 0 MUC17 140453 broad.mit.edu 37 7 100685732 100685733 + Missense_Mutation DNP CC CC AA TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:100685732_100685733CC>AA uc003uxp.1 + 3 11088_11089 c.11035_11036CC>AA c.(11035-11037)CCT>AAT p.P3679N MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 3679 Extracellular (Potential).|59.|59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) TCCTGTGACTCCTGAAGGTACC 0.52 NA 6 239 0 0 0.004672 0 0 SLC26A3 1811 broad.mit.edu 37 7 107431513 107431513 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:107431513C>A uc003ver.2 - 5 761 c.550G>T c.(550-552)GTG>TTG p.V184L SLC26A3_uc003ves.2_Missense_Mutation_p.V149L NM_000111 NP_000102 P40879 S26A3_HUMAN solute carrier family 26, member 3 184 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 CCAGAAAGCACTGTGACTGAT 0.488 NA 5 41 0.00116845 0.00127467 0.001168 1 0 PTPRZ1 5803 broad.mit.edu 37 7 121668644 121668644 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:121668644G>T uc003vjy.2 + 14 5422 c.5027G>T c.(5026-5028)AGT>ATT p.S1676I PTPRZ1_uc003vjz.2_Missense_Mutation_p.S816I|PTPRZ1_uc011knt.1_Missense_Mutation_p.S266I NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 1676 Cytoplasmic (Potential). central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 TTAGAGGACAGTACATCCCCT 0.378 NA 39 112 1.07121e-22 1.69817e-22 0.006999 1 0 AASS 10157 broad.mit.edu 37 7 121738539 121738539 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:121738539C>T uc003vka.2 - 14 1716 c.1620G>A c.(1618-1620)CTG>CTA p.L540L AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Silent_p.L540L|AASS_uc011knw.1_Silent_p.L28L NM_005763 NP_005754 Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase precursor 540 Saccharopine dehydrogenase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity upper_aerodigestive_tract(1)|ovary(1) 2 L-Glutamic Acid(DB00142)|NADH(DB00157) CCAAGAAGCCCAGCTTCTCTT 0.338 NA 6 72 0 0 0.001984 0 0 WASL 8976 broad.mit.edu 37 7 123346396 123346396 + Missense_Mutation SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:123346396T>C uc003vkz.2 - 4 699 c.371A>G c.(370-372)GAA>GGA p.E124G NM_003941 NP_003932 O00401 WASL_HUMAN Wiskott-Aldrich syndrome gene-like protein 124 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 TGCTTCTTCTTCATTGGCAAA 0.303 NA 6 38 0 0 0.001984 0 0 SPAM1 6677 broad.mit.edu 37 7 123594227 123594227 + Silent SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:123594227A>G uc003vld.2 + 4 1005 c.603A>G c.(601-603)GTA>GTG p.V201V SPAM1_uc003vle.2_Silent_p.V201V|SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vlf.3_Silent_p.V201V|SPAM1_uc010lku.2_Silent_p.V201V NM_153189 NP_694859 P38567 HYALP_HUMAN sperm adhesion molecule 1 isoform 2 201 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity ovary(3)|kidney(1) 4 Hyaluronidase(DB00070) ATTTCCTGGTAGAGACTATAA 0.383 NA 14 103 0 0 0.00245 0 0 GCC1 79571 broad.mit.edu 37 7 127225205 127225205 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:127225205C>T uc003vma.2 - 1 450 c.32G>A c.(31-33)GGC>GAC p.G11D NM_024523 NP_078799 Q96CN9 GCC1_HUMAN Golgi coiled-coil protein 1 11 Golgi membrane|plasma membrane protein binding ovary(2) 2 CTTGCTCGGGCCGCCCCCGAA 0.572 NA OREG0003808 type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 14 115 0 0 0.004007 0 0 FSCN3 29999 broad.mit.edu 37 7 127236391 127236391 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:127236391T>A uc003vmd.1 + 3 1070 c.851T>A c.(850-852)GTG>GAG p.V284E FSCN3_uc011koh.1_Missense_Mutation_p.V150E|FSCN3_uc010llc.1_Missense_Mutation_p.V284E NM_020369 NP_065102 Q9NQT6 FSCN3_HUMAN fascin 3 284 actin cytoskeleton|cytoplasm actin filament binding|protein binding, bridging ovary(1) 1 GATGGTGAGGTGCGTGCTGCT 0.552 NA 32 235 0 0 0.009535 0 0 PLXNA4 91584 broad.mit.edu 37 7 131908336 131908336 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:131908336G>A uc003vra.3 - 9 2276 c.2047C>T c.(2047-2049)CAT>TAT p.H683Y NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 683 PSI 2.|Extracellular (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 TTGGGGTCATGGGTGCAGACA 0.592 NA 4 36 0 0 0.001168 0 0 PLXNA4 91584 broad.mit.edu 37 7 132174174 132174174 + Silent SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:132174174G>T uc003vra.3 - 3 1477 c.1248C>A c.(1246-1248)TCC>TCA p.S416S PLXNA4_uc003vrc.2_Silent_p.S416S|PLXNA4_uc003vrb.2_Silent_p.S416S NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 416 Extracellular (Potential).|Sema. integral to membrane|intracellular|plasma membrane ovary(1) 1 GCACCATGTCGGACACTCCCA 0.493 NA 15 31 4.7546e-09 6.20849e-09 0.004007 1 0 AKR1B15 441282 broad.mit.edu 37 7 134252977 134252977 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:134252977G>C uc011kpr.1 + 4 517 c.218G>C c.(217-219)TGT>TCT p.C73S AKR1B15_uc003vrt.2_Missense_Mutation_p.C45S|AKR1B15_uc011kps.1_Missense_Mutation_p.C45S NM_001080538 NP_001074007 C9JRZ8 AK1BF_HUMAN aldo-keto reductase family 1, member B15 73 oxidoreductase activity ovary(1) 1 CACATTGACTGTGCCTATTTC 0.473 NA 11 116 0 0 0.000978 0 0 TBXAS1 6916 broad.mit.edu 37 7 139655295 139655295 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:139655295G>C uc011kqv.1 + 8 882 c.718G>C c.(718-720)GTC>CTC p.V240L TBXAS1_uc003vvh.2_Missense_Mutation_p.V194L|TBXAS1_uc010lne.2_Missense_Mutation_p.V126L|TBXAS1_uc011kqu.1_Missense_Mutation_p.V145L|TBXAS1_uc003vvi.2_Missense_Mutation_p.V194L|TBXAS1_uc003vvj.2_Missense_Mutation_p.V194L|TBXAS1_uc011kqw.1_Missense_Mutation_p.V174L NM_001130966 NP_001124438 P24557 THAS_HUMAN thromboxane A synthase 1, platelet isoform 193 Cytoplasmic (Potential). hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity ovary(2)|breast(1) 3 Melanoma(164;0.0142) GGTTGCCAGCGTCGCCTTTGG 0.572 NA 29 133 0 0 0.003271 0 0 MKRN1 23608 broad.mit.edu 37 7 140154936 140154936 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:140154936C>G uc003vvt.2 - 7 1420 c.1195G>C c.(1195-1197)GAG>CAG p.E399Q MKRN1_uc003vvs.2_Missense_Mutation_p.E335Q|MKRN1_uc011krd.1_Missense_Mutation_p.E133Q NM_013446 NP_038474 Q9UHC7 MKRN1_HUMAN makorin ring finger protein 1 isoform 1 399 ligase activity|nucleic acid binding|protein binding|zinc ion binding ovary(1) 1 Melanoma(164;0.00956) CTCTGTGGCTCCTCTCTACGG 0.488 NA 19 162 0 0 0.003271 0 0 OR9A4 130075 broad.mit.edu 37 7 141619029 141619029 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:141619029G>T uc003vwu.1 + 1 354 c.354G>T c.(352-354)ATG>ATT p.M118I NM_001001656 NP_001001656 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, 118 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Melanoma(164;0.0171) TTGGAGCAATGGCTGTGGACC 0.478 NA 83 152 2.13431e-38 3.5311e-38 0.00361 1 0 EPHA1 2041 broad.mit.edu 37 7 143096454 143096454 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:143096454C>T uc003wcz.2 - 5 975 c.888G>A c.(886-888)ACG>ACA p.T296T NM_005232 NP_005223 P21709 EPHA1_HUMAN ephrin receptor EphA1 precursor 296 Extracellular (Potential).|Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity ovary(3)|lung(1)|breast(1) 5 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) GCTGGGGGCACGTGAGACAAT 0.602 NA 6 58 0 0 0.001984 0 0 OR2A5 393046 broad.mit.edu 37 7 143747932 143747932 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:143747932C>T uc011ktw.1 + 1 438 c.438C>T c.(436-438)GTC>GTT p.V146V NM_012365 NP_036497 Q96R48 OR2A5_HUMAN olfactory receptor, family 2, subfamily A, 146 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 Melanoma(164;0.0783) TCCTGGCTGTCACTTCTTGGG 0.522 NA 13 307 0 0 0.001855 0 0 WDR60 55112 broad.mit.edu 37 7 158683963 158683963 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:158683963A>G uc003woe.3 + 8 1156 c.998A>G c.(997-999)CAC>CGC p.H333R WDR60_uc010lqv.2_RNA|WDR60_uc010lqw.2_5'UTR NM_018051 NP_060521 Q8WVS4 WDR60_HUMAN WD repeat domain 60 333 ovary(2)|breast(1)|central_nervous_system(1) 4 Ovarian(565;0.152) all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18) TAGCATGGCCACGAGGAAGGC 0.607 NA 69 144 0 0 0.00361 0 0 ARHGEF10 9639 broad.mit.edu 37 8 1857512 1857512 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:1857512G>T uc003wpr.2 + 18 2197 c.2019G>T c.(2017-2019)TGG>TGT p.W673C ARHGEF10_uc003wpq.1_Missense_Mutation_p.W697C|ARHGEF10_uc003wps.2_Missense_Mutation_p.W635C|ARHGEF10_uc003wpv.2_Missense_Mutation_p.W406C|ARHGEF10_uc010lre.2_Missense_Mutation_p.W353C NM_014629 NP_055444 O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor 10 698 centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity large_intestine(1) 1 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) TGCTGAAGTGGAGCGTTCCAC 0.567 NA 36 182 1.90571e-15 2.83168e-15 0.004289 1 0 CSMD1 64478 broad.mit.edu 37 8 2820078 2820078 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:2820078G>T uc011kwk.1 - 61 9931 c.9541C>A c.(9541-9543)CAG>AAG p.Q3181K CSMD1_uc011kwj.1_Missense_Mutation_p.Q2510K|CSMD1_uc010lrg.2_Missense_Mutation_p.Q1072K NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 3181 Extracellular (Potential).|Sushi 26. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GATTTGCACTGGAAGAAGACT 0.502 NA 12 57 2.68362e-12 3.79146e-12 0.001368 1 0 CSMD1 64478 broad.mit.edu 37 8 2857502 2857502 + Silent SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:2857502A>G uc011kwk.1 - 53 8574 c.8184T>C c.(8182-8184)TCT>TCC p.S2728S CSMD1_uc011kwj.1_Silent_p.S2057S|CSMD1_uc010lrg.2_Silent_p.S738S NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2728 Extracellular (Potential).|Sushi 18. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GCGTTTGTCCAGACCACTTGT 0.473 NA 8 277 0 0 0.006214 0 0 CSMD1 64478 broad.mit.edu 37 8 2965290 2965290 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:2965290G>T uc011kwk.1 - 45 7178 c.6788C>A c.(6787-6789)CCA>CAA p.P2263Q CSMD1_uc011kwj.1_Missense_Mutation_p.P1655Q|CSMD1_uc010lrg.2_Missense_Mutation_p.P331Q NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2263 Extracellular (Potential).|Sushi 13. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TGGAACCGCTGGGGGAGGTTG 0.333 NA 13 165 9.31168e-06 1.09522e-05 0.001855 1 0 CSMD1 64478 broad.mit.edu 37 8 3008972 3008972 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:3008972G>T uc011kwk.1 - 40 6371 c.5981C>A c.(5980-5982)TCT>TAT p.S1994Y CSMD1_uc011kwj.1_Missense_Mutation_p.S1386Y|CSMD1_uc003wqe.2_Missense_Mutation_p.S1150Y|CSMD1_uc010lrg.2_Missense_Mutation_p.S62Y NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 1994 Extracellular (Potential).|CUB 12. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GTTGGGGTAAGAACCTGGGAA 0.488 NA 9 40 2.17888e-05 2.53445e-05 0.006214 1 0 CSMD1 64478 broad.mit.edu 37 8 3205575 3205575 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:3205575G>T uc011kwk.1 - 22 3806 c.3416C>A c.(3415-3417)GCC>GAC p.A1139D CSMD1_uc011kwj.1_Missense_Mutation_p.A531D|CSMD1_uc003wqe.2_Missense_Mutation_p.A295D NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 1139 Extracellular (Potential).|CUB 7. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GCCCTTGCCGGCTTCTGTTTC 0.383 NA 3 22 0.004672 0.00496531 0.004672 1 0 CSMD1 64478 broad.mit.edu 37 8 3253859 3253859 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:3253859C>A uc011kwk.1 - 17 2843 c.2453G>T c.(2452-2454)GGG>GTG p.G818V CSMD1_uc011kwj.1_Missense_Mutation_p.G210V|CSMD1_uc003wqe.2_5'UTR NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 818 Extracellular (Potential).|CUB 5. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ACTGGCTGGCCCATCTCTGAC 0.522 NA 4 18 0.00024832 0.000278259 0.009096 1 0 CSMD1 64478 broad.mit.edu 37 8 3265427 3265427 + Missense_Mutation SNP A A C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:3265427A>C uc011kwk.1 - 14 2458 c.2068T>G c.(2068-2070)TAC>GAC p.Y690D CSMD1_uc011kwj.1_Missense_Mutation_p.Y82D NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 690 Extracellular (Potential).|CUB 4. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TTACTGGTGTAAGTGATGTTG 0.443 NA 3 20 0 0 0.004672 0 0 SGCZ 137868 broad.mit.edu 37 8 14181709 14181710 + Missense_Mutation DNP CC CC AA TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:14181709_14181710CC>AA uc003wwq.2 - 3 898_899 c.238_239GG>TT c.(238-240)GGT>TTT p.G80F SGCZ_uc010lss.2_Intron NM_139167 NP_631906 Q96LD1 SGCZ_HUMAN sarcoglycan zeta 67 Extracellular (Potential). cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma ovary(2)|central_nervous_system(1) 3 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) ATTTCCCATACCATCCTACAAG 0.361 NA 6 84 0 0 0.004672 0 0 SORBS3 10174 broad.mit.edu 37 8 22414373 22414373 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:22414373G>A uc003xbv.2 + 4 706 c.366G>A c.(364-366)GAG>GAA p.E122E SORBS3_uc011kzk.1_RNA NM_005775 NP_005766 O60504 VINEX_HUMAN sorbin and SH3 domain containing 3 isoform 1 122 SoHo. muscle contraction|positive regulation of stress fiber assembly cytoskeleton|cytosol|nucleus protein binding|structural constituent of cytoskeleton|vinculin binding 0 Prostate(55;0.0421)|Breast(100;0.102) BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061) TCAAGTACGAGGGAATCGGGC 0.652 NA 6 72 0 0 0.006214 0 0 SCARA3 51435 broad.mit.edu 37 8 27517030 27517030 + Missense_Mutation SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:27517030T>C uc003xga.1 + 5 1484 c.1343T>C c.(1342-1344)ATC>ACC p.I448T SCARA3_uc003xgb.1_Missense_Mutation_p.I448T NM_016240 NP_057324 Q6AZY7 SCAR3_HUMAN scavenger receptor class A, member 3 isoform 1 448 Extracellular (Potential). response to oxidative stress|UV protection collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane scavenger receptor activity skin(2)|ovary(1)|breast(1) 4 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148) CATGGAGAAATCCTTCGCAAT 0.557 NA 8 18 0 0 0.006214 0 0 C8orf80 389643 broad.mit.edu 37 8 27898648 27898648 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:27898648C>T uc003xgm.3 - 13 1674 c.1531G>A c.(1531-1533)GCC>ACC p.A511T NM_001010906 NP_001010906 Q68CJ6 SLIP_HUMAN speckled-like pattern in the germinal center 511 nucleus GTP binding|GTPase activity ovary(1)|central_nervous_system(1) 2 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181) TCCATGCAGGCGAAGCACTGT 0.567 NA 3 7 0 0 0.004672 0 0 TEX15 56154 broad.mit.edu 37 8 30695247 30695247 + Silent SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:30695247T>C uc003xil.2 - 3 7404 c.7404A>G c.(7402-7404)ACA>ACG p.T2468T NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 2468 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) CTGGTGAAAATGTGCCATGTA 0.383 NA 16 347 0 0 0.003163 0 0 UNC5D 137970 broad.mit.edu 37 8 35583678 35583678 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:35583678C>T uc003xjr.1 + 10 1640 c.1312C>T c.(1312-1314)CTG>TTG p.L438L UNC5D_uc003xjs.1_Silent_p.L433L|UNC5D_uc003xju.1_Silent_p.L14L|UNC5D_uc003xjt.1_Silent_p.L196L NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 438 Cytoplasmic (Potential). apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) AGGTAACTCCCTGCTCCTGAA 0.507 NA 21 99 0 0 0.00278 0 0 PLAT 5327 broad.mit.edu 37 8 42044933 42044933 + Silent SNP C C T rs115361478 byFrequency TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:42044933C>T uc003xos.2 - 6 731 c.522G>A c.(520-522)GGG>GGA p.G174G PLAT_uc010lxf.1_Silent_p.G91G|PLAT_uc010lxg.1_Intron|PLAT_uc003xot.2_Silent_p.G128G|PLAT_uc011lcm.1_Intron|PLAT_uc011lcn.1_Intron NM_000930 NP_000921 P00750 TPA_HUMAN plasminogen activator, tissue isoform 1 174 Kringle 1. blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis cell surface|cytoplasm|extracellular space protein binding|serine-type endopeptidase activity breast(1)|skin(1) 2 all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013) AGTTGTGGTTCCCCAGGCCCA 0.572 NA 5 33 0 0 0.00308 0 0 PLAT 5327 broad.mit.edu 37 8 42046539 42046539 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:42046539A>G uc003xos.2 - 4 375 c.166T>C c.(166-168)TGG>CGG p.W56R PLAT_uc010lxf.1_Intron|PLAT_uc010lxg.1_Missense_Mutation_p.W56R|PLAT_uc003xot.2_Intron|PLAT_uc011lcm.1_Missense_Mutation_p.W56R|PLAT_uc011lcn.1_Missense_Mutation_p.W56R NM_000930 NP_000921 P00750 TPA_HUMAN plasminogen activator, tissue isoform 1 56 Fibronectin type-I. blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis cell surface|cytoplasm|extracellular space protein binding|serine-type endopeptidase activity breast(1)|skin(1) 2 all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013) GGGCGCAGCCATGACTGATGT 0.473 NA 7 309 0 0 0.006214 0 0 RNF170 81790 broad.mit.edu 37 8 42725241 42725241 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:42725241G>A uc003xpo.2 - 4 705 c.228C>T c.(226-228)GCC>GCT p.A76A RNF170_uc011lcx.1_Silent_p.A76A|RNF170_uc010lxp.2_5'UTR|RNF170_uc003xpm.2_Silent_p.A76A|RNF170_uc003xpp.2_Missense_Mutation_p.P5L|RNF170_uc003xpn.2_Missense_Mutation_p.P5L|RNF170_uc003xpq.3_Silent_p.A76A NM_001160223 NP_001153695 Q96K19 RN170_HUMAN ring finger protein 170 isoform a 76 integral to membrane zinc ion binding 0 all_lung(13;1.25e-11)|Lung NSC(13;3.55e-10)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00645)|Lung NSC(58;0.0176)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114) GCTGTCGAGTGGCAGCAGGTG 0.473 NA 6 43 0 0 0.001984 0 0 SNTG1 54212 broad.mit.edu 37 8 51621445 51621445 + Splice_Site SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:51621445G>T uc010lxy.1 + 18 1563 c.1192_splice c.e18-1 p.C398_splice SNTG1_uc003xqs.1_Splice_Site_p.C398_splice|SNTG1_uc010lxz.1_Splice_Site_p.C398_splice|SNTG1_uc011ldl.1_Splice_Site NM_018967 NP_061840 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding ovary(5) 5 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) GTTCTACCTAGTGCAAGACCT 0.279 NA 39 87 3.33393e-15 4.93069e-15 0.004878 1 0 PXDNL 137902 broad.mit.edu 37 8 52321066 52321066 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:52321066C>A uc003xqu.3 - 17 3219 c.3118G>T c.(3118-3120)GTG>TTG p.V1040L PXDNL_uc003xqt.3_RNA NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 1040 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) CCTGCATTCACGTTGGGGTTG 0.522 NA 4 42 0.000602214 0.000665384 0.000602 1 0 ST18 9705 broad.mit.edu 37 8 53084677 53084677 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:53084677G>C uc003xqz.2 - 5 900 c.744C>G c.(742-744)AAC>AAG p.N248K ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.N213K|ST18_uc011lds.1_Missense_Mutation_p.N153K|ST18_uc003xra.2_Missense_Mutation_p.N248K|ST18_uc003xrb.2_Missense_Mutation_p.N248K NM_014682 NP_055497 O60284 ST18_HUMAN suppression of tumorigenicity 18 248 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(1) 5 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) AATCACACCTGTTCTCACAAG 0.443 NA 29 144 0 0 0.009535 0 0 PTTG3P 26255 broad.mit.edu 37 8 67679693 67679693 + Nonsense_Mutation SNP A A C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:67679693A>C uc011leu.1 - 1 548 c.548T>G c.(547-549)TTA>TGA p.L183* SGK3_uc003xwp.2_Intron|SGK3_uc003xwr.2_Intron NR_002734 RecName: Full=Securin-3; AltName: Full=Pituitary tumor transforming gene 3 protein; Short=hPTTG3; AltName: Full=rcPTTG1; 0 CAGAATGCTTAAAGGAGACTG 0.418 NA 60 146 0 0 0.00361 0 0 ZFHX4 79776 broad.mit.edu 37 8 77765002 77765002 + Nonsense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:77765002G>T uc003yav.2 + 10 6097 c.5710G>T c.(5710-5712)GGA>TGA p.G1904* ZFHX4_uc003yau.1_Nonsense_Mutation_p.G1949*|ZFHX4_uc003yaw.1_Nonsense_Mutation_p.G1904* NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1904 C2H2-type 14. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) ACTAGAATGTGGAACATGTGG 0.378 NA HNSCC(33;0.089) 25 85 2.21704e-12 3.14633e-12 0.00278 1 0 ZFHX4 79776 broad.mit.edu 37 8 77768314 77768314 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:77768314A>T uc003yav.2 + 10 9409 c.9022A>T c.(9022-9024)ACC>TCC p.T3008S ZFHX4_uc003yau.1_Missense_Mutation_p.T3053S|ZFHX4_uc003yaw.1_Missense_Mutation_p.T3008S NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 3008 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) CTTGGCTCCGACCACGGTTCG 0.507 NA HNSCC(33;0.089) 53 86 0 0 0.00361 0 0 ZFHX4 79776 broad.mit.edu 37 8 77768330 77768330 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:77768330T>A uc003yav.2 + 10 9425 c.9038T>A c.(9037-9039)CTG>CAG p.L3013Q ZFHX4_uc003yau.1_Missense_Mutation_p.L3058Q|ZFHX4_uc003yaw.1_Missense_Mutation_p.L3013Q NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 3013 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) GTTCGGCAGCTGATGGCACAG 0.522 NA HNSCC(33;0.089) 5 140 0 0 0.001168 0 0 CA1 759 broad.mit.edu 37 8 86240888 86240888 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:86240888G>T uc003ydh.2 - 9 887 c.687C>A c.(685-687)AGC>AGA p.S229R CA13_uc003ydf.1_Intron|CA1_uc010mae.1_Missense_Mutation_p.S229R|CA1_uc003ydi.2_Missense_Mutation_p.S229R NM_001738 NP_001729 P00915 CAH1_HUMAN carbonic anhydrase I 229 one-carbon metabolic process Golgi apparatus carbonate dehydratase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_lung(136;4.89e-06) Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909) TTGATAGAAGGCTGCGGAATT 0.383 NA 18 113 5.3912e-06 6.39657e-06 0.006122 1 0 Unknown 0 broad.mit.edu 37 8 86567347 86567347 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:86567347G>T uc003ydl.1 - 1 559 c.472C>A c.(472-474)CTG>ATG p.L158M NM_172239 NP_758439 exonuclease GOR NA GTCAGCTCCAGGCCATGCGTG 0.567 NA 8 118 0.000274275 0.000305179 0.004482 1 0 MMP16 4325 broad.mit.edu 37 8 89053712 89053712 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:89053712G>A uc003yeb.3 - 10 2083 c.1801C>T c.(1801-1803)CGC>TGC p.R601C NM_005941 NP_005932 P51512 MMP16_HUMAN matrix metalloproteinase 16 isoform 1 601 Cytoplasmic (Potential). collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1) 8 TGCATAGAGCGTTTACAGTAC 0.438 NA 46 97 0 0 0.00361 0 0 MATN2 4147 broad.mit.edu 37 8 98973692 98973692 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:98973692C>T uc003yic.2 + 5 1123 c.892C>T c.(892-894)CCG>TCG p.P298S MATN2_uc003yib.1_Missense_Mutation_p.P298S|MATN2_uc010mbh.1_Missense_Mutation_p.P298S|MATN2_uc003yid.2_Missense_Mutation_p.P298S|MATN2_uc003yie.1_Missense_Mutation_p.P298S|MATN2_uc010mbi.1_Intron NM_002380 NP_002371 O00339 MATN2_HUMAN matrilin 2 isoform a precursor 298 EGF-like 2. proteinaceous extracellular matrix calcium ion binding ovary(2) 2 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) TGTGAATGTGCCGGGCTCCTT 0.572 NA 26 63 0 0 0.002096 0 0 VPS13B 157680 broad.mit.edu 37 8 100832227 100832227 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:100832227G>T uc003yiv.2 + 49 9057 c.8946G>T c.(8944-8946)TTG>TTT p.L2982F VPS13B_uc003yiw.2_Missense_Mutation_p.L2957F NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 2982 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) GAACTTTGTTGATAGAACTTC 0.443 Colon(161;2205 2542 7338 31318) NA 19 153 2.39187e-15 3.54296e-15 0.008871 1 0 DPYS 1807 broad.mit.edu 37 8 105456612 105456612 + Silent SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:105456612C>G uc003yly.3 - 4 786 c.657G>C c.(655-657)CTG>CTC p.L219L NM_001385 NP_001376 Q14117 DPYS_HUMAN dihydropyrimidinase 219 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) CTGGGCGGCACAGCTCGTGGC 0.532 NA 7 47 0 0 0.004482 0 0 CSMD3 114788 broad.mit.edu 37 8 113323244 113323244 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:113323244C>A uc003ynu.2 - 50 8007 c.7848G>T c.(7846-7848)GGG>GGT p.G2616G CSMD3_uc003yns.2_Silent_p.G1818G|CSMD3_uc003ynt.2_Silent_p.G2576G|CSMD3_uc011lhx.1_Silent_p.G2512G|CSMD3_uc003ynw.1_Silent_p.G327G NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2616 Extracellular (Potential).|Sushi 14. 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 ATGCATGATACCCATAGGAAG 0.463 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 43 81 1.68508e-10 2.31181e-10 0.009718 1 0 CSMD3 114788 broad.mit.edu 37 8 113516125 113516125 + Silent SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:113516125T>C uc003ynu.2 - 30 5136 c.4977A>G c.(4975-4977)CAA>CAG p.Q1659Q CSMD3_uc003yns.2_Silent_p.Q931Q|CSMD3_uc003ynt.2_Silent_p.Q1619Q|CSMD3_uc011lhx.1_Silent_p.Q1555Q NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1659 Extracellular (Potential).|CUB 9. 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 ACTTGCTGTCTTGAAAACTTC 0.348 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 27 85 0 0 0.005443 0 0 CSMD3 114788 broad.mit.edu 37 8 113988189 113988189 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:113988189C>A uc003ynu.2 - 7 1378 c.1219G>T c.(1219-1221)GAC>TAC p.D407Y CSMD3_uc003ynt.2_Missense_Mutation_p.D367Y|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 407 Extracellular (Potential). 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 GTGTTGGGGTCCAGACCTGAA 0.478 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 9 162 3.86212e-05 4.43255e-05 0.008291 1 0 CSMD3 114788 broad.mit.edu 37 8 114111174 114111174 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:114111174C>T uc003ynu.2 - 5 887 c.728G>A c.(727-729)GGA>GAA p.G243E CSMD3_uc003ynt.2_Missense_Mutation_p.G203E|CSMD3_uc011lhx.1_Missense_Mutation_p.G243E|CSMD3_uc010mcx.1_Missense_Mutation_p.G243E NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 243 Extracellular (Potential).|CUB 2. 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 TCTCATTGTTCCTCCACAAGC 0.388 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 10 56 0 0 0.008291 0 0 TG 7038 broad.mit.edu 37 8 133941335 133941335 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:133941335G>C uc003ytw.2 + 23 4755 c.4714G>C c.(4714-4716)GAG>CAG p.E1572Q TG_uc010mdw.2_Missense_Mutation_p.E331Q|TG_uc011ljb.1_Missense_Mutation_p.E5Q|TG_uc003ytx.1_RNA NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 1572 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GCAGAAGTTTGAGAAGGTTCC 0.453 NA 4 130 0 0 0.000602 0 0 GPAA1 8733 broad.mit.edu 37 8 145138042 145138042 + Silent SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:145138042G>T uc003zax.2 + 2 200 c.90G>T c.(88-90)GTG>GTT p.V30V GPAA1_uc003zav.1_5'UTR|GPAA1_uc003zaw.1_Intron NM_003801 NP_003792 O43292 GPAA1_HUMAN glycosylphosphatidylinositol anchor attachment 30 Helical; (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen GPI-anchor transamidase complex tubulin binding 0 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TGAGCTACGTGGCGGGCATCG 0.672 NA 4 31 2.56e-06 3.05268e-06 0.009096 1 0 PTPRD 5789 broad.mit.edu 37 9 8485784 8485784 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr9:8485784G>A uc003zkk.2 - 27 3744 c.3033C>T c.(3031-3033)TTC>TTT p.F1011F PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Silent_p.F1002F|PTPRD_uc003zkm.2_Silent_p.F998F|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1011 Fibronectin type-III 7.|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) GCAGTGTCCTGAACTGGACAC 0.448 NA TSP Lung(15;0.13) 4 15 0 0 0.001984 0 0 BNC2 54796 broad.mit.edu 37 9 16435569 16435569 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr9:16435569G>A uc003zml.2 - 6 2763 c.2623C>T c.(2623-2625)CGC>TGC p.R875C BNC2_uc011lmw.1_Missense_Mutation_p.R780C|BNC2_uc003zmm.2_Missense_Mutation_p.R833C|BNC2_uc003zmq.1_Missense_Mutation_p.R889C|BNC2_uc003zmr.1_Missense_Mutation_p.R912C|BNC2_uc003zmp.1_Missense_Mutation_p.R903C|BNC2_uc010mij.1_Missense_Mutation_p.R797C|BNC2_uc011lmv.1_Missense_Mutation_p.R701C|BNC2_uc003zmo.1_Missense_Mutation_p.R797C|BNC2_uc003zmj.2_Missense_Mutation_p.R640C|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.R640C|BNC2_uc003zmn.1_Missense_Mutation_p.R640C NM_017637 NP_060107 Q6ZN30 BNC2_HUMAN basonuclin 2 875 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(50;9.01e-08) CGGCTTCGGCGAGAGGGGAAT 0.498 NA 4 32 0 0 0.009096 0 0 BNC2 54796 broad.mit.edu 37 9 16552765 16552765 + Splice_Site SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr9:16552765T>A uc003zml.2 - 5 574 c.434_splice c.e5-1 p.A145_splice BNC2_uc011lmw.1_Splice_Site_p.A50_splice|BNC2_uc003zmm.2_Splice_Site_p.A103_splice|BNC2_uc003zmq.1_Splice_Site_p.A159_splice|BNC2_uc003zmr.1_Splice_Site_p.A182_splice|BNC2_uc003zmp.1_Splice_Site_p.A173_splice|BNC2_uc010mij.1_Splice_Site_p.A67_splice|BNC2_uc011lmv.1_Splice_Site|BNC2_uc003zmo.1_Splice_Site_p.A67_splice NM_017637 NP_060107 Q6ZN30 BNC2_HUMAN basonuclin 2 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(50;9.01e-08) TATCCAAGGCTGTGGTGGTCC 0.512 NA 13 43 0 0 0.001855 0 0 CNTFR 1271 broad.mit.edu 37 9 34564690 34564690 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr9:34564690G>T uc003zup.1 - 4 507 c.226C>A c.(226-228)CTC>ATC p.L76I CNTFR_uc003zuq.1_Missense_Mutation_p.L76I NM_147164 NP_671693 P26992 CNTFR_HUMAN ciliary neurotrophic factor receptor 76 Ig-like C2-type. nervous system development anchored to membrane|extrinsic to membrane|plasma membrane ciliary neurotrophic factor receptor activity|receptor binding ovary(3)|central_nervous_system(1)|skin(1) 5 all_epithelial(49;0.0899) STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.00494) AGGCCATGGAGCACCAGCTGA 0.627 NA 10 46 7.48243e-07 9.1057e-07 0.006214 1 0 ARID3C 138715 broad.mit.edu 37 9 34623453 34623454 + Nonsense_Mutation DNP GC GC TT TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 GC GC - - GC GC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr9:34623453_34623454GC>TT uc011lon.1 - 4 833_834 c.833_834GC>AA c.(832-834)TGC>TAA p.C278* DCTN3_uc003zuw.1_5'Flank|DCTN3_uc003zux.1_5'Flank NM_001017363 NP_001017363 A6NKF2 ARI3C_HUMAN AT rich interactive domain 3C (BRIGHT- like) 278 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.175) TCAGCTGAGCGCATGCATGCGC 0.639 NA 57 221 0 0 0.004672 0 0 ZNF658 26149 broad.mit.edu 37 9 40773112 40773112 + Silent SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr9:40773112T>C uc004abs.2 - 5 2315 c.2163A>G c.(2161-2163)AAA>AAG p.K721K ZNF658_uc010mmm.1_Intron|ZNF658_uc010mmn.1_Silent_p.K721K NM_033160 NP_149350 Q5TYW1 ZN658_HUMAN zinc finger protein 658 721 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GGGCAAATGTTTTCTCACATT 0.393 NA 9 375 0 0 0.001855 0 0 FAM75A6 389730 broad.mit.edu 37 9 43627756 43627756 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr9:43627756G>T uc011lrb.1 - 4 960 c.931C>A c.(931-933)CAG>AAG p.Q311K NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN hypothetical protein LOC389730 311 integral to membrane 0 GCTTCCATCTGACAGGTCTCT 0.532 NA 9 366 0.000274275 0.000305179 0.004482 1 0 PGM5 5239 broad.mit.edu 37 9 71006565 71006565 + Silent SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr9:71006565G>C uc004agr.2 + 5 1042 c.813G>C c.(811-813)CTG>CTC p.L271L NM_021965 NP_068800 Q15124 PGM5_HUMAN phosphoglucomutase 5 271 cell adhesion|cellular calcium ion homeostasis|glucose metabolic process costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity ovary(1)|pancreas(1) 2 ACCCAAACCTGACATATGCAA 0.493 NA 15 74 0 0 0.007413 0 0 Unknown 0 broad.mit.edu 37 9 90747437 90747437 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr9:90747437G>T uc011lti.1 - 4 544 c.515C>A c.(514-516)GCC>GAC p.A172D SubName: Full=cDNA FLJ59639; NA TGGGGTGGAGGCCAGATCCTG 0.612 NA 18 144 4.31634e-10 5.84555e-10 0.002445 1 0 NOL8 55035 broad.mit.edu 37 9 95080959 95080959 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr9:95080959C>G uc004arv.2 - 6 764 c.427G>C c.(427-429)GTG>CTG p.V143L NOL8_uc010mqw.2_5'Flank|NOL8_uc004arw.2_Intron|NOL8_uc011ltw.1_Missense_Mutation_p.V75L|NOL8_uc004arx.2_Missense_Mutation_p.V143L NM_017948 NP_060418 Q76FK4 NOL8_HUMAN nucleolar protein 8 143 DNA replication|positive regulation of cell growth nucleolus nucleotide binding|protein binding|RNA binding ovary(1) 1 AATTTGCTCACAACCCAATTC 0.279 NA 3 20 0 0 0.004672 0 0 SVEP1 79987 broad.mit.edu 37 9 113151817 113151817 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr9:113151817C>T uc010mtz.2 - 41 10210 c.9873G>A c.(9871-9873)GTG>GTA p.V3291V SVEP1_uc010mty.2_Silent_p.V1217V NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 3291 Sushi 31. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 TGCATATTGCCACCCCTCCAC 0.433 NA 26 54 0 0 0.008361 0 0 DAB2IP 153090 broad.mit.edu 37 9 124544669 124544669 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr9:124544669G>A uc004bln.2 + 16 3447 c.3378G>A c.(3376-3378)CAG>CAA p.Q1126Q DAB2IP_uc004blo.2_Silent_p.Q1030Q|DAB2IP_uc004blp.2_Silent_p.Q559Q NM_032552 NP_115941 Q5VWQ8 DAB2P_HUMAN disabled homolog 2 interacting protein isoform 1154 Potential. activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter cytoplasm|intrinsic to internal side of plasma membrane 14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity ovary(1)|central_nervous_system(1) 2 CCCTGACCCAGCTGAAAGAGA 0.582 NA 4 126 0 0 0.009096 0 0 LRRC8A 56262 broad.mit.edu 37 9 131669876 131669876 + Nonsense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr9:131669876A>T uc004bwl.3 + 3 687 c.433A>T c.(433-435)AAA>TAA p.K145* LRRC8A_uc010myp.2_Nonsense_Mutation_p.K145*|LRRC8A_uc010myq.2_Nonsense_Mutation_p.K145* NM_019594 NP_062540 Q8IWT6 LRC8A_HUMAN leucine rich repeat containing 8 family, member 145 Helical; (Potential). pre-B cell differentiation integral to membrane 0 CTTCTGGTTCAAATTCCCGCG 0.567 NA 31 41 0 0 0.003755 0 0 CAMSAP1 157922 broad.mit.edu 37 9 138715101 138715101 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr9:138715101G>A uc004cgr.3 - 11 1406 c.1406C>T c.(1405-1407)GCG>GTG p.A469V CAMSAP1_uc004cgq.3_Missense_Mutation_p.A359V|CAMSAP1_uc010nbg.2_Missense_Mutation_p.A191V NM_015447 NP_056262 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 469 cytoplasm|microtubule ovary(1)|central_nervous_system(1)|pancreas(1) 3 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) TGGCTGGGACGCAGGCCTGAA 0.587 NA 9 54 0 0 0.004482 0 0 MAMDC4 158056 broad.mit.edu 37 9 139749013 139749013 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr9:139749013T>A uc004cjs.2 + 8 869 c.819T>A c.(817-819)TTT>TTA p.F273L MAMDC4_uc011mej.1_5'UTR NM_206920 NP_996803 Q6UXC1 AEGP_HUMAN apical early endosomal glycoprotein precursor 273 MAM 2.|Extracellular (Potential). protein transport integral to membrane breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1) 7 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) CCACCGACTTTGAGACAGGCC 0.701 NA 10 6 0 0 0.001368 0 0 PLCXD1 55344 broad.mit.edu 37 X 215875 215875 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:215875C>T uc004cpc.2 + 7 1157 c.845C>T c.(844-846)GCG>GTG p.A282V PLCXD1_uc011mgx.1_RNA NM_018390 NP_060860 Q9NUJ7 PLCX1_HUMAN phosphatidylinositol-specific phospholipase C, X 282 intracellular signal transduction|lipid metabolic process phospholipase C activity 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CGGCTGAGCGCGTGGGTCCGA 0.662 NA 16 22 0 0 0.007413 0 0 PTCHD1 139411 broad.mit.edu 37 X 23412154 23412154 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:23412154C>A uc004dal.3 + 3 2527 c.2519C>A c.(2518-2520)GCC>GAC p.A840D NM_173495 NP_775766 Q96NR3 PTHD1_HUMAN patched domain containing 1 840 Helical; (Potential). cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity ovary(4)|kidney(1)|skin(1) 6 CACTGCTTTGCCATTTTACCT 0.418 NA 8 185 0.000157383 0.000176986 0.00308 1 0 CXorf21 80231 broad.mit.edu 37 X 30578175 30578175 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:30578175C>A uc004dcg.1 - 3 574 c.298G>T c.(298-300)GTT>TTT p.V100F NM_025159 NP_079435 Q9HAI6 CX021_HUMAN hypothetical protein LOC80231 100 ovary(1) 1 CATATTTCAACTGCAGCCAAG 0.443 NA 7 222 0.00198382 0.00213469 0.001984 1 0 DMD 1756 broad.mit.edu 37 X 32305789 32305789 + Silent SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:32305789T>A uc004dda.1 - 43 6391 c.6147A>T c.(6145-6147)TCA>TCT p.S2049S DMD_uc004dcw.2_Silent_p.S705S|DMD_uc004dcx.2_Silent_p.S708S|DMD_uc004dcz.2_Silent_p.S1926S|DMD_uc004dcy.1_Silent_p.S2045S|DMD_uc004ddb.1_Silent_p.S2041S|DMD_uc010ngo.1_Intron|DMD_uc010ngn.1_RNA NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 2049 Spectrin 14. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CAATCCGACCTGAGCTTTGTT 0.338 NA 5 26 0 0 0.000602 0 0 FAM47B 170062 broad.mit.edu 37 X 34961456 34961456 + Nonsense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:34961456G>T uc004ddi.1 + 1 526 c.508G>T c.(508-510)GAG>TAG p.E170* NM_152631 NP_689844 Q8NA70 FA47B_HUMAN hypothetical protein LOC170062 170 ovary(3)|breast(1) 4 TGAGGCCCGGGAGAAGACAAC 0.597 NA 23 15 2.89027e-11 4.01756e-11 0.002299 1 0 CXorf22 170063 broad.mit.edu 37 X 35993266 35993266 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:35993266C>A uc004ddj.2 + 14 2316 c.2257C>A c.(2257-2259)CCT>ACT p.P753T CXorf22_uc010ngv.2_Intron NM_152632 NP_689845 Q6ZTR5 CX022_HUMAN hypothetical protein LOC170063 753 large_intestine(1)|lung(1)|ovary(1) 3 TTTTTCAGGGCCTTCTGTCCT 0.289 NA 13 32 4.36969e-10 5.90095e-10 0.001855 1 0 FAM47C 442444 broad.mit.edu 37 X 37026518 37026518 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:37026518C>A uc004ddl.1 + 1 49 c.35C>A c.(34-36)TCC>TAC p.S12Y NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 12 ovary(3) 3 CGGCCCAGTTCCCCGGGCATG 0.662 NA 5 19 0.000602214 0.000665384 0.000602 1 0 SYTL5 94122 broad.mit.edu 37 X 37984667 37984667 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:37984667T>A uc004ddu.2 + 17 2492 c.1958T>A c.(1957-1959)ATA>AAA p.I653K SYTL5_uc004ddv.2_Missense_Mutation_p.I653K|SYTL5_uc004ddx.2_Missense_Mutation_p.I675K NM_001163335 NP_001156807 Q8TDW5 SYTL5_HUMAN synaptotagmin-like 5 isoform 1 653 C2 2. intracellular protein transport membrane metal ion binding|Rab GTPase binding skin(1) 1 CCCCAGGATATAAAGAATGTT 0.433 NA 27 68 0 0 0.00632 0 0 SRPX 8406 broad.mit.edu 37 X 38033550 38033550 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:38033550G>A uc004ddy.1 - 3 298 c.212C>T c.(211-213)GCC>GTC p.A71V SRPX_uc004ddz.1_Missense_Mutation_p.A51V|SRPX_uc011mkh.1_Missense_Mutation_p.A71V|SRPX_uc011mki.1_Missense_Mutation_p.A71V NM_006307 NP_006298 P78539 SRPX_HUMAN sushi-repeat-containing protein, X-linked 71 Sushi 1. cell adhesion cell surface|membrane 0 TCCTTGAGGGGCCCTGCAGTA 0.517 NA 21 14 0 0 0.001882 0 0 GRIPAP1 56850 broad.mit.edu 37 X 48832429 48832429 + Splice_Site SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:48832429C>A uc004dly.1 - 24 2313 c.2278_splice c.e24+1 p.D760_splice NM_020137 NP_064522 Q4V328 GRAP1_HUMAN GRIP1 associated protein 1 isoform 1 early endosome breast(2)|kidney(1) 3 GGGACACTGACCGATCCGGCT 0.617 NA 6 20 0.000157383 0.000176986 0.00308 1 0 DGKK 139189 broad.mit.edu 37 X 50133404 50133405 + Missense_Mutation DNP CC CC AA TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:50133404_50133405CC>AA uc010njr.1 - 12 1907_1908 c.1847_1848GG>TT c.(1846-1848)TGG>TTT p.W616F NM_001013742 NP_001013764 Q5KSL6 DGKK_HUMAN diacylglycerol kinase kappa 616 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1) 2 Ovarian(276;0.236) TCATCACACTCCATCTGAAATG 0.391 NA 23 82 0 0 0.004672 0 0 HUWE1 10075 broad.mit.edu 37 X 53675171 53675171 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:53675171G>A uc004dsp.2 - 5 530 c.128C>T c.(127-129)ACA>ATA p.T43I NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 43 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 AATGTTCCATGTTTTGATCTG 0.388 NA 30 19 0 0 0.008361 0 0 EFNB1 1947 broad.mit.edu 37 X 68060320 68060320 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:68060320C>T uc004dxd.3 + 5 1644 c.864C>T c.(862-864)CCC>CCT p.P288P EFNB1_uc004dxe.2_Silent_p.P288P NM_004429 NP_004420 P98172 EFNB1_HUMAN ephrin-B1 precursor 288 Cytoplasmic (Potential). cell adhesion|cell-cell signaling integral to plasma membrane|soluble fraction|synapse ephrin receptor binding 0 TGGCCAGTCCCAAGGGGGGCA 0.607 NA 4 18 0 0 0.009096 0 0 KIAA2022 340533 broad.mit.edu 37 X 73960665 73960665 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:73960665G>A uc004eby.2 - 3 4344 c.3727C>T c.(3727-3729)CGT>TGT p.R1243C NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 1243 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 CTTCCCCCACGGCCAATGCCA 0.493 NA 21 15 0 0 0.003954 0 0 P2RY10 27334 broad.mit.edu 37 X 78216969 78216969 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:78216969C>T uc004ede.2 + 4 1321 c.952C>T c.(952-954)CGC>TGC p.R318C P2RY10_uc004edf.2_Missense_Mutation_p.R318C NM_014499 NP_055314 O00398 P2Y10_HUMAN G-protein coupled purinergic receptor P2Y10 318 Cytoplasmic (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(2)|lung(2)|breast(1) 5 CCAACTATCCCGCCATGGCAG 0.443 NA 57 37 0 0 0.00361 0 0 PABPC5 140886 broad.mit.edu 37 X 90691098 90691098 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:90691098G>A uc004efg.2 + 2 962 c.522G>A c.(520-522)CAG>CAA p.Q174Q PABPC5_uc004eff.1_Silent_p.Q10Q NM_080832 NP_543022 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 174 RRM 2. cytoplasm nucleotide binding|RNA binding ovary(1)|lung(1)|pancreas(1) 3 ACAACCGCCAGGTGTATGTTG 0.502 NA 19 45 0 0 0.006122 0 0 BTK 695 broad.mit.edu 37 X 100630242 100630242 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:100630242G>C uc004ehg.2 - 2 224 c.31C>G c.(31-33)CTG>GTG p.L11V BTK_uc010nnn.2_Missense_Mutation_p.L11V|BTK_uc010nno.2_Missense_Mutation_p.L45V|BTK_uc004ehi.2_Missense_Mutation_p.L11V NM_000061 NP_000052 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 11 PH. L -> P (in XLA). calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding lung(3)|central_nervous_system(2)|ovary(1) 6 GATCGCTTCAGAAAGATGCTC 0.438 NA Agammaglobulinemia_X-linked 44 110 0 0 0.002522 0 0 ZMAT1 84460 broad.mit.edu 37 X 101138621 101138621 + Missense_Mutation SNP A A C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:101138621A>C uc004eim.2 - 2 4763 c.1265T>G c.(1264-1266)CTT>CGT p.L422R ZMAT1_uc011mrl.1_Missense_Mutation_p.L593R|ZMAT1_uc004ein.2_Missense_Mutation_p.L422R|ZMAT1_uc011mrm.1_Missense_Mutation_p.L422R NM_032441 NP_115817 Q5H9K5 ZMAT1_HUMAN zinc finger, matrin type 1 isoform 3 422 nucleus zinc ion binding ovary(1) 1 TCGATGCTTAAGCTTTCCTGA 0.373 NA 6 122 0 0 0.006214 0 0 COL4A5 1287 broad.mit.edu 37 X 107938500 107938500 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:107938500A>T uc004enz.1 + 51 5027 c.4825A>T c.(4825-4827)ACA>TCA p.T1609S COL4A5_uc011mso.1_Missense_Mutation_p.T1606S|COL4A5_uc011msp.1_Missense_Mutation_p.T285S NM_033380 NP_203699 P29400 CO4A5_HUMAN type IV collagen alpha 5 isoform 2 precursor 1603 Collagen IV NC1. Missing (in APSX). axon guidance collagen type IV extracellular matrix structural constituent|protein binding ovary(3)|central_nervous_system(1) 4 TTTATAGCATACAAGTGCAGG 0.483 NA Alport_syndrome_with_Diffuse_Leiomyomatosis 23 93 0 0 0.00632 0 0 CHRDL1 91851 broad.mit.edu 37 X 109931883 109931883 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:109931883G>A uc004eou.3 - 9 1276 c.927C>T c.(925-927)TGC>TGT p.C309C CHRDL1_uc004eov.2_Silent_p.C303C|CHRDL1_uc004eow.2_Silent_p.C308C|CHRDL1_uc010nps.2_Silent_p.C308C|CHRDL1_uc004eot.2_Silent_p.C229C|CHRDL1_uc011mss.1_Silent_p.C223C NM_001143981 NP_001137453 Q9BU40 CRDL1_HUMAN chordin-like 1 isoform 1 precursor 302 VWFC 3. BMP signaling pathway|cell differentiation|nervous system development|ossification extracellular region 0 GAGGATACTTGCAGGGGTATC 0.463 NA 43 135 0 0 0.00874 0 0 LAMP2 3920 broad.mit.edu 37 X 119575734 119575734 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:119575734T>A uc004est.3 - 8 1124 c.944A>T c.(943-945)AAT>ATT p.N315I LAMP2_uc004ess.3_Missense_Mutation_p.N315I|LAMP2_uc011mtz.1_Missense_Mutation_p.N204I|LAMP2_uc011mua.1_Missense_Mutation_p.N268I|LAMP2_uc010nqp.1_Missense_Mutation_p.N315I NM_002294 NP_002285 P13473 LAMP2_HUMAN lysosomal-associated membrane protein 2 isoform 315 Lumenal (Potential).|Second lumenal domain. platelet activation|platelet degranulation endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane ovary(1) 1 GAGATTGTTATTTGCAATGCT 0.333 NA 24 87 0 0 0.004656 0 0 IGSF1 3547 broad.mit.edu 37 X 130409258 130409258 + Missense_Mutation SNP A A C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:130409258A>C uc004ewd.2 - 17 3425 c.3187T>G c.(3187-3189)TTA>GTA p.L1063V IGSF1_uc004ewe.3_Missense_Mutation_p.L1057V|IGSF1_uc004ewf.2_Missense_Mutation_p.L1043V NM_001555 NP_001546 Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 isoform 1 1063 Extracellular (Potential). 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 TTGGGGAGTAAGCCTGGAAGA 0.517 NA 7 150 0 0 0.00308 0 0 GPR112 139378 broad.mit.edu 37 X 135427278 135427278 + Silent SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:135427278T>A uc004ezu.1 + 6 1704 c.1413T>A c.(1411-1413)CCT>CCA p.P471P GPR112_uc010nsb.1_Silent_p.P266P|GPR112_uc010nsc.1_Silent_p.P238P NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 471 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) CACCTGAGCCTGTGCTCATCT 0.448 NA 5 78 0 0 0.000602 0 0 GPR112 139378 broad.mit.edu 37 X 135431636 135431637 + Missense_Mutation DNP CC CC AA TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:135431636_135431637CC>AA uc004ezu.1 + 6 6062_6063 c.5771_5772CC>AA c.(5770-5772)GCC>GAA p.A1924E GPR112_uc010nsb.1_Missense_Mutation_p.A1719E|GPR112_uc010nsc.1_Missense_Mutation_p.A1691E NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 1924 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) ACATTCACAGCCTCTCAGACTG 0.416 NA 5 142 0 0 0.004672 0 0 MAGEC1 9947 broad.mit.edu 37 X 140996176 140996176 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:140996176C>A uc004fbt.2 + 4 3272 c.2986C>A c.(2986-2988)CAG>AAG p.Q996K MAGEC1_uc010nsl.1_Missense_Mutation_p.Q63K NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 996 MAGE. protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) GGGCATGTCCCAGAACCGCCT 0.502 NA HNSCC(15;0.026) 48 109 2.64894e-19 4.06343e-19 0.00361 1 0 PDZD4 57595 broad.mit.edu 37 X 153069795 153069795 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:153069795G>A uc004fiz.1 - 8 1573 c.1323C>T c.(1321-1323)TAC>TAT p.Y441Y PDZD4_uc004fiy.1_Silent_p.Y366Y|PDZD4_uc004fix.2_Silent_p.Y345Y|PDZD4_uc004fja.1_Silent_p.Y447Y|PDZD4_uc011mze.1_Silent_p.Y332Y NM_032512 NP_115901 Q76G19 PDZD4_HUMAN PDZ domain containing 4 441 cell cortex breast(1) 1 all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCGCCAGGTCGTAGAGGCTCT 0.627 NA 4 32 0 0 0.001984 0 0 RPS4Y1 6192 broad.mit.edu 37 Y 2712266 2712266 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrY:2712266G>T uc004fqi.2 + 3 273 c.230G>T c.(229-231)CGA>CTA p.R77L NM_001008 NP_000999 P22090 RS4Y1_HUMAN ribosomal protein S4, Y-linked 1 Y isoform 77 S4 RNA-binding. endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|polysome rRNA binding|structural constituent of ribosome 0 GGCAAGGTTCGAGTGGATGTC 0.423 Melanoma(193;1927 2965 17170 18413) NA 59 101 2.44918e-20 3.79383e-20 0.00361 1 0 GRIK3 2899 broad.mit.edu 37 1 37356618 37356619 + Frame_Shift_Ins INS - - A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:37356618_37356619insA uc001caz.2 - 2 329_330 c.194_195insT c.(193-195)AACfs p.N65fs GRIK3_uc001cba.1_Frame_Shift_Ins_p.N65fs NM_000831 NP_000822 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 65 Extracellular (Potential). negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity ovary(3)|skin(2)|large_intestine(1)|breast(1) 7 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) TGTTGATGATGTTGGCAGAAAA 0.5 NA 35 306 --- --- --- --- NA NA NA NA NA RHBG 57127 broad.mit.edu 37 1 156351938 156351938 + Frame_Shift_Del DEL C C - TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:156351938delC uc010pho.1 + 7 1096 c.1058delC c.(1057-1059)GCCfs p.A353fs RHBG_uc010phm.1_Frame_Shift_Del_p.P186fs|RHBG_uc010phn.1_RNA|RHBG_uc001fos.2_Frame_Shift_Del_p.A284fs|RHBG_uc009wrz.2_Frame_Shift_Del_p.A321fs|RHBG_uc001for.2_Frame_Shift_Del_p.A323fs NM_020407 NP_065140 Q9H310 RHBG_HUMAN Rhesus blood group, B glycoprotein 353 Helical; (Potential). transepithelial ammonium transport anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding ovary(2) 2 Hepatocellular(266;0.158) GTCCTGGGGGCCCTCCTGGGG 0.557 NA 42 201 --- --- --- --- NA NA NA NA NA MYO3A 53904 broad.mit.edu 37 10 26463295 26463295 + Frame_Shift_Del DEL A A - TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:26463295delA uc001isn.2 + 30 4462 c.4102delA c.(4102-4104)AAGfs p.K1368fs MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN myosin IIIA 1368 IQ 3. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 18 GCAGTTGAGGAAGGACAAGAT 0.433 NA 76 160 --- --- --- --- NA NA NA NA NA CPNE8 144402 broad.mit.edu 37 12 39087640 39087640 + Frame_Shift_Del DEL C C - TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:39087640delC uc001rls.1 - 15 1046 c.962delG c.(961-963)GGCfs p.G321fs CPNE8_uc001rlr.1_5'UTR NM_153634 NP_705898 Q86YQ8 CPNE8_HUMAN copine VIII 321 VWFA. pancreas(1) 1 Esophageal squamous(101;0.187) Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157) AGCAGGGTTGCCTGATGACAG 0.348 NA 31 80 --- --- --- --- NA NA NA NA NA DNAJC14 85406 broad.mit.edu 37 12 56221691 56221699 + In_Frame_Del DEL CCTGCCTGT CCTGCCTGT - TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 CCTGCCTGT CCTGCCTGT - - CCTGCCTGT CCTGCCTGT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:56221691_56221699delCCTGCCTGT uc001shx.1 - 2 948_956 c.744_752delACAGGCAGG c.(742-753)GGACAGGCAGGC>GGC p.248_251GQAG>G DNAJC14_uc001shu.1_In_Frame_Del_p.248_251GQAG>G|DNAJC14_uc009zob.1_In_Frame_Del_p.248_251GQAG>G|DNAJC14_uc001shy.1_In_Frame_Del_p.248_251GQAG>G NM_032364 NP_115740 Q6Y2X3 DJC14_HUMAN dopamine receptor interacting protein 248_251 Helical; (Potential). protein folding|protein transport endoplasmic reticulum membrane|integral to membrane heat shock protein binding|unfolded protein binding ovary(3)|large_intestine(1) 4 CCACCAAAAGCCTGCCTGTCCAAGTTGAC 0.536 NA 9 111 --- --- --- --- NA NA NA NA NA OR4Q3 441669 broad.mit.edu 37 14 20216093 20216094 + Frame_Shift_Ins INS - - T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr14:20216093_20216094insT uc010tkt.1 + 1 507_508 c.507_508insT c.(505-510)TTCTGTfs p.F169fs NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, 169_170 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AGCTGCCTTTCTGTGGGCCCAA 0.51 NA 13 98 --- --- --- --- NA NA NA NA NA CLEC14A 161198 broad.mit.edu 37 14 38724524 38724525 + Frame_Shift_Ins INS - - A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr14:38724524_38724525insA uc001wum.1 - 1 1050_1051 c.703_704insT c.(703-705)TGGfs p.W235fs NM_175060 NP_778230 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 235 Extracellular (Potential). integral to membrane sugar binding ovary(3)|skin(1) 4 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) GAGTTTGTCCCAGCGAGCGCCG 0.629 NA 24 929 --- --- --- --- NA NA NA NA NA CDH11 1009 broad.mit.edu 37 16 64984878 64984878 + Frame_Shift_Del DEL C C - TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr16:64984878delC uc002eoi.2 - 12 2120 c.1686delG c.(1684-1686)CGGfs p.R562fs CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Frame_Shift_Del_p.R562fs|CDH11_uc010vin.1_Frame_Shift_Del_p.R436fs NM_001797 NP_001788 P55287 CAD11_HUMAN cadherin 11, type 2 preproprotein 562 Cadherin 5.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding lung(10)|ovary(3)|skin(1) 14 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) CCTGCTTCTGCCGACTGAACC 0.597 NA T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 15 41 --- --- --- --- NA NA NA NA NA JPH3 57338 broad.mit.edu 37 16 87678356 87678356 + Frame_Shift_Del DEL G G - TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr16:87678356delG uc002fkd.2 + 2 1129 c.875delG c.(874-876)TGGfs p.W292fs JPH3_uc010vou.1_RNA NM_020655 NP_065706 Q8WXH2 JPH3_HUMAN junctophilin 3 292 Cytoplasmic (Potential).|MORN 7. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane protein binding ovary(1)|pancreas(1) 2 BRCA - Breast invasive adenocarcinoma(80;0.0287) GTGGGCGAGTGGAAGAACGAC 0.672 NA 17 93 --- --- --- --- NA NA NA NA NA GAS2L2 246176 broad.mit.edu 37 17 34079564 34079564 + Frame_Shift_Del DEL G G - TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:34079564delG uc002hjv.1 - 1 334 c.306delC c.(304-306)GCCfs p.A102fs NM_139285 NP_644814 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 102 CH. cell cycle arrest cytoplasm|cytoskeleton ovary(1)|skin(1) 2 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CTGGCTGGGCGGCCCCATTGC 0.617 NA 54 159 --- --- --- --- NA NA NA NA NA ACACA 31 broad.mit.edu 37 17 35615290 35615290 + Frame_Shift_Del DEL G G - TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:35615290delG uc002hnm.2 - 13 1586 c.1395delC c.(1393-1395)GCCfs p.A465fs ACACA_uc002hnk.2_Frame_Shift_Del_p.A387fs|ACACA_uc002hnl.2_Frame_Shift_Del_p.A407fs|ACACA_uc002hnn.2_Frame_Shift_Del_p.A465fs|ACACA_uc002hno.2_Frame_Shift_Del_p.A502fs|ACACA_uc010cuz.2_Frame_Shift_Del_p.A465fs NM_198836 NP_942133 Q13085 ACACA_HUMAN acetyl-Coenzyme A carboxylase alpha isoform 2 465 Biotin carboxylation.|ATP-grasp. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding large_intestine(1)|ovary(1) 2 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) GAATCCCCATGGCAATCTGAA 0.363 Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249) NA 26 76 --- --- --- --- NA NA NA NA NA HOXB3 3213 broad.mit.edu 37 17 46628126 46628126 + Frame_Shift_Del DEL G G - TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:46628126delG uc002inn.2 - 2 1266 c.866delC c.(865-867)CCGfs p.P289fs HOXB3_uc010wlm.1_Frame_Shift_Del_p.P216fs|HOXB3_uc010dbf.2_Frame_Shift_Del_p.P289fs|HOXB3_uc010dbg.2_Frame_Shift_Del_p.P289fs|HOXB3_uc002ino.2_Frame_Shift_Del_p.P289fs|HOXB3_uc010wlk.1_Frame_Shift_Del_p.P157fs|HOXB3_uc010wll.1_Frame_Shift_Del_p.P216fs NM_002146 NP_002137 P14651 HXB3_HUMAN homeobox B3 289 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GGGTGGGGACGGGCTCTCGTA 0.677 NA OREG0024516 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 63 161 --- --- --- --- NA NA NA NA NA ALPK2 115701 broad.mit.edu 37 18 56204617 56204617 + Frame_Shift_Del DEL G G - TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr18:56204617delG uc002lhj.3 - 5 3016 c.2802delC c.(2800-2802)CCCfs p.P934fs ALPK2_uc002lhk.1_Frame_Shift_Del_p.P265fs NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 934 ATP binding|protein serine/threonine kinase activity ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 CTGAGTTGCTGGGGCTTGGCT 0.517 NA 10 47 --- --- --- --- NA NA NA NA NA C20orf186 149954 broad.mit.edu 37 20 31671619 31671619 + Frame_Shift_Del DEL G G - rs2424943 byFrequency TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:31671619delG uc010zue.1 + 3 631 c.616delG c.(616-618)GGGfs p.G206fs NM_182519 NP_872325 P59827 LPLC4_HUMAN antimicrobial peptide RY2G5 precursor 206 Gly-rich. cytoplasm|extracellular region lipid binding 0 TCTTGGAGGAGGGGGTGTCCT 0.652 NA 10 152 --- --- --- --- NA NA NA NA NA PXK 54899 broad.mit.edu 37 3 58383335 58383335 + Frame_Shift_Del DEL T T - TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:58383335delT uc003djz.1 + 11 1087 c.988delT c.(988-990)TTGfs p.L330fs PXK_uc003djx.1_Frame_Shift_Del_p.L330fs|PXK_uc003djy.1_Frame_Shift_Del_p.L313fs|PXK_uc003dka.1_Frame_Shift_Del_p.L330fs|PXK_uc003dkb.1_Frame_Shift_Del_p.L247fs|PXK_uc003dkc.1_Frame_Shift_Del_p.L313fs|PXK_uc011bfe.1_Frame_Shift_Del_p.L297fs|PXK_uc010hnj.1_Frame_Shift_Del_p.L297fs|PXK_uc003dkd.1_Frame_Shift_Del_p.L193fs|PXK_uc010hnk.1_Frame_Shift_Del_p.L104fs NM_017771 NP_060241 Q7Z7A4 PXK_HUMAN PX domain containing serine/threonine kinase 330 Protein kinase. cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission centrosome|cytoplasm|nucleus|plasma membrane actin binding|ATP binding|phosphatidylinositol binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22) TCCACAGACATTGGAAAGTGT 0.547 NA 28 173 --- --- --- --- NA NA NA NA NA GPR27 2850 broad.mit.edu 37 3 71804249 71804249 + Frame_Shift_Del DEL G G - TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:71804249delG uc011bge.1 + 1 1049 c.1049delG c.(1048-1050)AGGfs p.R350fs EIF4E3_uc003dox.2_5'Flank|EIF4E3_uc011bgd.1_5'Flank|EIF4E3_uc010hoc.2_5'Flank NM_018971 NP_061844 Q9NS67 GPR27_HUMAN G protein-coupled receptor 27 350 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1) 1 Prostate(10;0.00899) BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156) GACTGCTTCAGGGCCCAGTTC 0.652 NA 7 17 --- --- --- --- NA NA NA NA NA VGLL3 389136 broad.mit.edu 37 3 87039828 87039828 + Frame_Shift_Del DEL G G - TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:87039828delG uc003dqn.2 - 1 430 c.66delC c.(64-66)CCCfs p.P22fs NM_016206 NP_057290 A8MV65 VGLL3_HUMAN colon carcinoma related protein 22 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) TCGCTGCCATGGGGTTGGGCA 0.657 NA 8 36 --- --- --- --- NA NA NA NA NA DBR1 51163 broad.mit.edu 37 3 137880741 137880743 + In_Frame_Del DEL TCG TCG - rs150114751 byFrequency TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 TCG TCG - - TCG TCG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:137880741_137880743delTCG uc003erv.2 - 8 1759_1761 c.1623_1625delCGA c.(1621-1626)GATGAT>GAT p.541_542DD>D DBR1_uc003eru.2_In_Frame_Del_p.490_491DD>D|DBR1_uc003ert.2_In_Frame_Del_p.309_310DD>D NM_016216 NP_057300 Q9UK59 DBR1_HUMAN debranching enzyme homolog 1 541_542 nucleus metal ion binding|RNA lariat debranching enzyme activity 0 TTAAGCTGCATCGTCATCATCAT 0.251 NA 7 222 --- --- --- --- NA NA NA NA NA TXK 7294 broad.mit.edu 37 4 48073614 48073614 + Frame_Shift_Del DEL T T - TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:48073614delT uc003gxx.3 - 14 1521 c.1435delA c.(1435-1437)ATTfs p.I479fs TXK_uc010igj.2_RNA|TXK_uc011bzj.1_Frame_Shift_Del_p.I166fs NM_003328 NP_003319 P42681 TXK_HUMAN TXK tyrosine kinase 479 Protein kinase. cytoplasm ATP binding|non-membrane spanning protein tyrosine kinase activity 0 CCTTCAGAAATAGCTTCCACG 0.398 NA 63 182 --- --- --- --- NA NA NA NA NA OTUD4 54726 broad.mit.edu 37 4 146059084 146059085 + Frame_Shift_Ins INS - - T rs138021807 by1000genomes TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:146059084_146059085insT uc003ika.3 - 21 2785_2786 c.2647_2648insA c.(2647-2649)ACGfs p.T883fs OTUD4_uc003ijz.3_Frame_Shift_Ins_p.T882fs NM_001102653 NP_001096123 Q01804 OTUD4_HUMAN OTU domain containing 4 protein isoform 3 947 protein binding ovary(2)|breast(1) 3 all_hematologic(180;0.151) AGCCAATGCCGTATCTGCCTTT 0.52 NA 33 194 --- --- --- --- NA NA NA NA NA ROPN1L 83853 broad.mit.edu 37 5 10442407 10442408 + Frame_Shift_Ins INS - - G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:10442407_10442408insG uc003jex.3 + 1 399_400 c.128_129insG c.(127-129)GCGfs p.A43fs NM_031916 NP_114122 Q96C74 ROP1L_HUMAN ropporin 1-like 43 RIIa. ciliary or flagellar motility|signal transduction cytoplasm|motile cilium cAMP-dependent protein kinase regulator activity|protein binding ovary(1) 1 CGGTGGTCCGCGGGGTAAGCGC 0.683 NA 9 67 --- --- --- --- NA NA NA NA NA EYS 346007 broad.mit.edu 37 6 66112422 66112422 + Frame_Shift_Del DEL G G - TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:66112422delG uc011dxu.1 - 7 1671 c.1133delC c.(1132-1134)CCTfs p.P378fs EYS_uc003peq.2_Frame_Shift_Del_p.P378fs|EYS_uc003per.1_Frame_Shift_Del_p.P378fs NM_001142800 NP_001136272 Q5T1H1 EYS_HUMAN eyes shut homolog isoform 1 378 EGF-like 5. response to stimulus|visual perception extracellular region calcium ion binding lung(4)|ovary(1)|skin(1) 6 ATTCCTCAAAGGAAATGACTC 0.279 NA 7 29 --- --- --- --- NA NA NA NA NA ZNF679 168417 broad.mit.edu 37 7 63727024 63727024 + Frame_Shift_Del DEL C C - rs111583875 TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:63727024delC uc003tsx.2 + 5 1282 c.1013delC c.(1012-1014)ACCfs p.T338fs NM_153363 NP_699194 Q8IYX0 ZN679_HUMAN zinc finger protein 679 338 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 TGCTCCTCAACCCTTAAGAAA 0.393 NA 7 39 --- --- --- --- NA NA NA NA NA AKR1B1 231 broad.mit.edu 37 7 134134483 134134483 + Frame_Shift_Del DEL C C - TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:134134483delC uc003vrp.1 - 4 492 c.418delG c.(418-420)GACfs p.D140fs AKR1B1_uc003vrq.1_RNA NM_001628 NP_001619 P15121 ALDR_HUMAN aldo-keto reductase family 1, member B1 140 C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress cytosol|extracellular space|nucleus alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding ovary(3) 3 NADH(DB00157)|Sulindac(DB00605) GCCCACGTGTCCAGAATGTTG 0.458 NA 9 327 --- --- --- --- NA NA NA NA NA DLGAP2 9228 broad.mit.edu 37 8 1616835 1616835 + Frame_Shift_Del DEL C C - TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:1616835delC uc003wpl.2 + 6 2008 c.1911delC c.(1909-1911)ATCfs p.I637fs DLGAP2_uc003wpm.2_Frame_Shift_Del_p.I637fs NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN discs large-associated protein 2 716 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding 0 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) GCTCCTCCATCGGGATTCAGG 0.632 NA 2 4 --- --- --- --- NA NA NA NA NA