Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut RERE 473 broad.mit.edu 37 1 8674637 8674637 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:8674637C>T uc001ape.2 - 5 1315 c.505G>A c.(505-507)GGG>AGG p.G169R RERE_uc001apf.2_Missense_Mutation_p.G169R|RERE_uc001aph.1_Missense_Mutation_p.G169R NM_012102 NP_036234 Q9P2R6 RERE_HUMAN atrophin-1 like protein isoform a 169 BAH. multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) GGCCCTCTCCCGGCTTCAGAA 0.507 NA 13 183 0 0 0 0 PEX14 5195 broad.mit.edu 37 1 10659377 10659377 + Silent SNP A A C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:10659377A>C uc001arn.2 + 4 273 c.252A>C c.(250-252)ACA>ACC p.T84T PEX14_uc009vmu.1_Intron|PEX14_uc009vmv.2_Silent_p.T20T|PEX14_uc010oam.1_Silent_p.T20T|PEX14_uc010oan.1_Intron|PEX14_uc009vmw.2_Silent_p.T20T NM_004565 NP_004556 O75381 PEX14_HUMAN peroxisomal biogenesis factor 14 84 negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport integral to membrane|nucleus|peroxisomal membrane|protein complex protein N-terminus binding|transcription corepressor activity breast(1) 1 Ovarian(185;0.203) all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419) GCCCAGCCACACAGGTGGTTC 0.557 NA 10 157 0 0 0 0 TARDBP 23435 broad.mit.edu 37 1 11073908 11073908 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:11073908C>T uc001art.2 + 2 258 c.124C>T c.(124-126)CGC>TGC p.R42C TARDBP_uc010oap.1_5'UTR NM_007375 NP_031401 Q13148 TADBP_HUMAN TAR DNA binding protein 42 3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter nucleus double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 Ovarian(185;0.249) Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0578) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487) GTGTGGGCTTCGCTACAGGAA 0.542 NA 11 90 0 0 0 0 AADACL3 126767 broad.mit.edu 37 1 12785336 12785336 + Silent SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:12785336C>A uc009vnn.1 + 4 659 c.426C>A c.(424-426)GCC>GCA p.A142A AADACL3_uc001aug.1_Silent_p.A72A NM_001103170 NP_001096640 Q5VUY0 ADCL3_HUMAN arylacetamide deacetylase-like 3 isoform 1 142 hydrolase activity 0 Ovarian(185;0.249) Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) GGGCAATAGCCGCAGTGGTTT 0.567 NA 12 154 7.04e-09 7.57e-09 1 0 NIPAL3 57185 broad.mit.edu 37 1 24779986 24779986 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:24779986C>T uc001bjh.2 + 7 1036 c.629C>T c.(628-630)GCG>GTG p.A210V NIPAL3_uc010oek.1_Missense_Mutation_p.A210V|NIPAL3_uc001bjg.2_Missense_Mutation_p.A210V|NIPAL3_uc009vrc.2_Missense_Mutation_p.A128V|NIPAL3_uc001bji.2_5'Flank NM_020448 NP_065181 Q6P499 NPAL3_HUMAN NIPA-like domain containing 3 210 Helical; (Potential). integral to membrane 0 CTCTTGGTGGCGTTACTTGGT 0.483 NA 6 56 0 0 0 0 CATSPER4 378807 broad.mit.edu 37 1 26520297 26520297 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:26520297C>T uc010oez.1 + 3 377 c.377C>T c.(376-378)TCT>TTT p.S126F CATSPER4_uc010oey.1_5'UTR|CATSPER4_uc009vsf.2_RNA NM_198137 NP_937770 Q7RTX7 CTSR4_HUMAN cation channel, sperm associated 4 126 Extracellular (Potential). cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity ovary(1) 1 all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649) GAGTTGTTCTCTACCATAGAT 0.507 NA 27 227 0 0 0 0 WDTC1 23038 broad.mit.edu 37 1 27614167 27614167 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:27614167C>G uc009vst.2 + 6 829 c.294C>G c.(292-294)TTC>TTG p.F98L WDTC1_uc001bno.2_Missense_Mutation_p.F98L|WDTC1_uc001bnp.1_RNA NM_015023 NP_055838 Q8N5D0 WDTC1_HUMAN WD and tetratricopeptide repeats 1 98 WD 2. protein binding ovary(1)|central_nervous_system(1) 2 all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476) CTATATAGTTCCTGCCTCACG 0.542 NA 3 31 0 0 0 0 AHDC1 27245 broad.mit.edu 37 1 27874901 27874901 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:27874901G>A uc009vsy.2 - 6 4695 c.3726C>T c.(3724-3726)TTC>TTT p.F1242F AHDC1_uc009vsz.1_Silent_p.F1242F NM_001029882 NP_001025053 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 1242 DNA binding central_nervous_system(1) 1 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) GTGAGGCCTCGAACAGGTCCA 0.652 NA 8 59 0 0 0 0 SDC3 9672 broad.mit.edu 37 1 31347180 31347180 + Nonsense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:31347180G>A uc001bse.2 - 4 1173 c.1126C>T c.(1126-1128)CAG>TAG p.Q376* SDC3_uc001bsd.2_Nonsense_Mutation_p.Q318* NM_014654 NP_055469 O75056 SDC3_HUMAN syndecan 3 376 Extracellular (Potential). integral to membrane cytoskeletal protein binding ovary(1)|central_nervous_system(1) 2 Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151) STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649) ATACTCTTCTGAGGCAGCTGA 0.652 NA 7 52 0 0 0 0 HCRTR1 3061 broad.mit.edu 37 1 32085276 32085276 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:32085276G>A uc009vtx.2 + 4 728 c.343G>A c.(343-345)GGC>AGC p.G115S HCRTR1_uc001btb.2_Intron|HCRTR1_uc001btc.3_Intron|HCRTR1_uc001btd.2_Missense_Mutation_p.G115S|HCRTR1_uc010ogl.1_Missense_Mutation_p.G115S NM_001525 NP_001516 O43613 OX1R_HUMAN orexin receptor 1 115 Extracellular (Potential). feeding behavior|neuropeptide signaling pathway|synaptic transmission integral to plasma membrane ovary(1) 1 Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.053) CTGGCTGTTCGGCCATGCCCT 0.582 NA 7 52 0 0 0 0 EIF2C3 192669 broad.mit.edu 37 1 36520550 36520550 + Missense_Mutation SNP A A G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:36520550A>G uc001bzp.2 + 18 2534 c.2278A>G c.(2278-2280)ACC>GCC p.T760A EIF2C3_uc001bzq.2_Missense_Mutation_p.T526A NM_024852 NP_079128 Q9H9G7 AGO3_HUMAN eukaryotic translation initiation factor 2C, 3 760 Piwi. mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|cytosol protein binding|RNA binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TCTATAGGGTACCAGTCGTCC 0.308 NA 10 149 0 0 0 0 FOXJ3 22887 broad.mit.edu 37 1 42655054 42655054 + Missense_Mutation SNP G G A rs61753350 TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:42655054G>A uc001che.2 - 12 1685 c.1373C>T c.(1372-1374)GCG>GTG p.A458V FOXJ3_uc001chf.2_Missense_Mutation_p.A458V|FOXJ3_uc001chg.2_Missense_Mutation_p.A458V NM_014947 NP_055762 Q9UPW0 FOXJ3_HUMAN forkhead box J3 458 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(2) 2 Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) ATCAAGTGTCGCATACCAATC 0.403 NA 7 67 0 0 0 0 EIF2B3 8891 broad.mit.edu 37 1 45341334 45341334 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:45341334C>G uc001cmt.1 - 9 1136 c.1009G>C c.(1009-1011)GAA>CAA p.E337Q EIF2B3_uc001cmu.1_Missense_Mutation_p.E337Q|EIF2B3_uc001cmv.1_Intron|EIF2B3_uc001cmw.2_Missense_Mutation_p.E337Q NM_020365 NP_065098 Q9NR50 EI2BG_HUMAN eukaryotic translation initiation factor 2B, 337 negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex nucleotidyltransferase activity|protein binding|translation initiation factor activity ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) ACTGGTGGTTCTTCTGGACAG 0.448 NA 5 80 0 0 0 0 POMGNT1 55624 broad.mit.edu 37 1 46655573 46655573 + Nonsense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:46655573G>A uc001cpe.2 - 20 1902 c.1738C>T c.(1738-1740)CGA>TGA p.R580* POMGNT1_uc010olx.1_Nonsense_Mutation_p.R558*|POMGNT1_uc010oly.1_RNA|POMGNT1_uc010olz.1_Nonsense_Mutation_p.R437*|POMGNT1_uc001cpg.2_Nonsense_Mutation_p.R580*|POMGNT1_uc001cpf.2_Nonsense_Mutation_p.R247* NM_017739 NP_060209 Q8WZA1 PMGT1_HUMAN O-linked mannose 580 Lumenal (Potential). protein N-linked glycosylation|protein O-linked glycosylation Golgi membrane|integral to membrane|microsome alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) TTCTCCATTCGAATAAAGGCC 0.547 NA 6 56 0 0 0 0 SLC5A9 200010 broad.mit.edu 37 1 48703350 48703350 + Splice_Site SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:48703350G>A uc001cro.2 + 11 1345 c.1293_splice c.e11-1 p.R431_splice SLC5A9_uc010oms.1_Splice_Site|SLC5A9_uc001crn.2_Splice_Site_p.R456_splice|SLC5A9_uc010omt.1_Splice_Site_p.R445_splice|SLC5A9_uc001crp.2_Splice_Site_p.R98_splice|SLC5A9_uc010omu.1_Splice_Site_p.R98_splice|SLC5A9_uc009vyt.1_5'Flank NM_001011547 NP_001011547 Q2M3M2 SC5A9_HUMAN solute carrier family 5 (sodium/glucose integral to membrane|plasma membrane low-affinity glucose:sodium symporter activity ovary(3) 3 CTCTCTGGCAGAGTGTTTGTG 0.567 NA 6 98 0 0 0 0 MRPL37 51253 broad.mit.edu 37 1 54681872 54681872 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:54681872G>A uc001cxa.3 + 6 1126 c.1049G>A c.(1048-1050)CGT>CAT p.R350H MRPL37_uc009vzp.2_Missense_Mutation_p.R219H|MRPL37_uc001cxb.1_Missense_Mutation_p.R350H|MRPL37_uc001cxc.3_Missense_Mutation_p.R38H|MRPL37_uc010oob.1_RNA NM_016491 NP_057575 Q9BZE1 RM37_HUMAN mitochondrial ribosomal protein L37 precursor 350 translation mitochondrial ribosome structural constituent of ribosome 0 ACGGATGGACGTGTCTTCCAT 0.517 NA 22 206 0 0 0 0 USP24 23358 broad.mit.edu 37 1 55561055 55561055 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:55561055C>T uc001cyg.3 - 48 5596 c.5596G>A c.(5596-5598)GAT>AAT p.D1866N NM_015306 NP_056121 Q9UPU5 UBP24_HUMAN ubiquitin specific protease 24 2026 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(6)|kidney(6)|breast(1) 13 CGGCGCACATCAGTGTATGGG 0.388 NA 4 39 0 0 0 0 PDE4B 5142 broad.mit.edu 37 1 66827446 66827446 + Silent SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:66827446C>G uc001dcn.2 + 10 1181 c.990C>G c.(988-990)GTC>GTG p.V330V PDE4B_uc009war.2_Silent_p.V238V|PDE4B_uc001dco.2_Silent_p.V330V|PDE4B_uc001dcp.2_Silent_p.V315V|PDE4B_uc001dcq.2_Silent_p.V158V|PDE4B_uc009was.2_Silent_p.V97V NM_001037341 NP_001032418 Q07343 PDE4B_HUMAN phosphodiesterase 4B isoform 1 330 signal transduction cytosol|insoluble fraction|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding ovary(2)|central_nervous_system(1) 3 Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277) GCTTTGGAGTCAACACTGAAA 0.418 NA 7 84 0 0 0 0 SH3GLB1 51100 broad.mit.edu 37 1 87200333 87200333 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:87200333G>A uc001dlw.2 + 6 945 c.619G>A c.(619-621)GAG>AAG p.E207K SH3GLB1_uc001dlx.2_Missense_Mutation_p.E228K|SH3GLB1_uc001dly.2_Missense_Mutation_p.E236K|SH3GLB1_uc001dlz.2_Missense_Mutation_p.E107K NM_016009 NP_057093 Q9Y371 SHLB1_HUMAN SH3-containing protein SH3GLB1 207 BAR. anti-apoptosis|filopodium assembly|signal transduction Golgi membrane|mitochondrial outer membrane cytoskeletal adaptor activity|protein homodimerization activity|SH3 domain binding 0 Lung NSC(277;0.209) all cancers(265;0.0136)|Epithelial(280;0.0414) TCGTCAAGCAGAGATTACCAG 0.353 NA 7 74 0 0 0 0 ATXN7L2 127002 broad.mit.edu 37 1 110030321 110030321 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:110030321G>A uc001dxr.2 + 5 610 c.595G>A c.(595-597)GAG>AAG p.E199K ATXN7L2_uc001dxs.2_5'Flank NM_153340 NP_699171 Q5T6C5 AT7L2_HUMAN ataxin 7-like 2 199 ovary(2) 2 all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453) Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228) AGAGAACATCGAGATCATCCC 0.597 NA 21 182 0 0 0 0 EPS8L3 79574 broad.mit.edu 37 1 110301152 110301152 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:110301152C>T uc001dyr.1 - 7 740 c.595G>A c.(595-597)GAG>AAG p.E199K EPS8L3_uc001dys.1_Missense_Mutation_p.E199K|EPS8L3_uc001dyq.1_Missense_Mutation_p.E200K|EPS8L3_uc009wfm.1_Missense_Mutation_p.E166K|EPS8L3_uc009wfn.1_Missense_Mutation_p.E166K|EPS8L3_uc009wfo.1_Missense_Mutation_p.E146K NM_133181 NP_573444 Q8TE67 ES8L3_HUMAN epidermal growth factor receptor pathway 199 Pro-rich. cytoplasm protein binding ovary(2)|skin(1) 3 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141) TTACTGTGCTCTAGGGTCCTC 0.577 NA 12 144 0 0 0 0 KCNC4 3749 broad.mit.edu 37 1 110765834 110765834 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:110765834C>T uc001dzh.2 + 2 984 c.927C>T c.(925-927)TTC>TTT p.F309F KCNC4_uc001dzf.2_Silent_p.F309F|KCNC4_uc009wfr.2_Silent_p.F309F|KCNC4_uc001dzg.2_Silent_p.F309F|KCNC4_uc001dzi.2_RNA NM_004978 NP_004969 Q03721 KCNC4_HUMAN Shaw-related voltage-gated potassium channel 309 Cytoplasmic (Potential). synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135) CGCTGGACTTCGTCAAGAACC 0.607 NA 8 92 0 0 0 0 KCNA3 3738 broad.mit.edu 37 1 111216030 111216030 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:111216030C>T uc001dzv.1 - 1 1626 c.1402G>A c.(1402-1404)GGT>AGT p.G468S NM_002232 NP_002223 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related 468 Helical; Name=Segment S6; (Potential). voltage-gated potassium channel complex delayed rectifier potassium channel activity p.G468S(1) ovary(4)|pancreas(1) 5 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) GTCAAGACACCGGCGATGGCA 0.527 NA 9 98 0 0 0 0 SPAG17 200162 broad.mit.edu 37 1 118530499 118530499 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:118530499G>A uc001ehk.2 - 40 5695 c.5627C>T c.(5626-5628)ACA>ATA p.T1876I NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1876 Potential. cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TGAGGATGCTGTGTGTCTATG 0.388 NA 5 75 0 0 0 0 C1orf56 54964 broad.mit.edu 37 1 151020330 151020330 + Missense_Mutation SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:151020330C>A uc001ewn.2 + 1 72 c.7C>A c.(7-9)CCC>ACC p.P3T NM_017860 NP_060330 Q9BUN1 CA056_HUMAN hypothetical protein LOC54964 precursor 3 extracellular region 0 Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CCCCATGGTCCCCGCCGCCGG 0.711 NA 4 28 2.56e-06 2.7e-06 1 0 C1orf104 284618 broad.mit.edu 37 1 155290588 155290588 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:155290588C>G uc001fki.2 - 2 969 c.692G>C c.(691-693)AGA>ACA p.R231T RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_Intron|RUSC1_uc001fkj.2_5'Flank|RUSC1_uc001fkk.2_5'Flank|RUSC1_uc009wqn.1_5'Flank|RUSC1_uc009wqo.1_5'Flank NM_001039517 NP_001034606 Q66K80 RUAS1_HUMAN hypothetical protein LOC284618 231 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;1.32e-10)|all cancers(21;3.51e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) ATCAAACCCTCTAGGTGGGTG 0.612 NA 5 52 0 0 0 0 GON4L 54856 broad.mit.edu 37 1 155735586 155735586 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:155735586G>A uc001flz.2 - 21 3775 c.3678C>T c.(3676-3678)CAC>CAT p.H1226H GON4L_uc009wrg.1_RNA|GON4L_uc001fly.1_Silent_p.H1226H|GON4L_uc009wrh.1_Silent_p.H1226H|GON4L_uc001fma.1_Silent_p.H1226H|GON4L_uc001fmb.3_Silent_p.H422H|GON4L_uc001fmc.2_Silent_p.H1226H|GON4L_uc001fmd.3_Silent_p.H1226H|GON4L_uc009wri.2_Silent_p.H812H NM_001037533 NP_001032622 Q3T8J9 GON4L_HUMAN gon-4-like isoform a 1226 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(3) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) CCACATTCACGTGGGCCTTAT 0.493 NA 10 103 0 0 0 0 BCAN 63827 broad.mit.edu 37 1 156617318 156617318 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:156617318G>A uc001fpp.2 + 4 821 c.485G>A c.(484-486)CGA>CAA p.R162Q BCAN_uc001fpo.2_Missense_Mutation_p.R162Q NM_021948 NP_068767 Q96GW7 PGCB_HUMAN brevican isoform 1 162 Link 1. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding ovary(1)|pancreas(1) 2 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TTTCTCTACCGAGAGGGCTCT 0.622 NA 10 86 0 0 0 0 BCAN 63827 broad.mit.edu 37 1 156617836 156617836 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:156617836C>T uc001fpp.2 + 5 1039 c.703C>T c.(703-705)CGG>TGG p.R235W BCAN_uc001fpo.2_Missense_Mutation_p.R235W NM_021948 NP_068767 Q96GW7 PGCB_HUMAN brevican isoform 1 235 Link 1. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding ovary(1)|pancreas(1) 2 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CCCCGGGGTCCGGAACTATGG 0.517 NA 20 191 0 0 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156914199 156914199 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:156914199C>T uc001fqo.2 - 30 3938 c.2898G>A c.(2896-2898)ATG>ATA p.M966I ARHGEF11_uc010phu.1_Missense_Mutation_p.M382I|ARHGEF11_uc001fqn.2_Missense_Mutation_p.M1006I NM_014784 NP_055599 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 966 PH. actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1) 9 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CCTCATGGATCATTTTTCTGG 0.393 NA 11 118 0 0 0 0 KCNJ10 3766 broad.mit.edu 37 1 160012273 160012273 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:160012273C>T uc001fuw.1 - 2 200 c.50G>A c.(49-51)AGC>AAC p.S17N NM_002241 NP_002232 P78508 IRK10_HUMAN potassium inwardly-rectifying channel, subfamily 17 Cytoplasmic (By similarity). integral to plasma membrane ATP binding|ATP-activated inward rectifier potassium channel activity ovary(1) 1 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TAGGGGCCGGCTTTCTGTCTG 0.537 NA 7 106 0 0 0 0 KCNJ9 3765 broad.mit.edu 37 1 160053931 160053931 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:160053931C>T uc001fuy.1 + 2 353 c.111C>T c.(109-111)AAC>AAT p.N37N NM_004983 NP_004974 Q92806 IRK9_HUMAN potassium inwardly-rectifying channel subfamily 37 Cytoplasmic (By similarity). synaptic transmission integral to membrane|plasma membrane G-protein activated inward rectifier potassium channel activity|protein binding ovary(1)|skin(1) 2 all_cancers(52;5.86e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) AGCAGGGCAACGTGCGCGAGA 0.572 NA 3 8 0 0 0 0 USF1 7391 broad.mit.edu 37 1 161012411 161012411 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:161012411G>C uc001fxi.2 - 4 303 c.108C>G c.(106-108)ATC>ATG p.I36M USF1_uc001fxj.2_Translation_Start_Site NM_007122 NP_009053 P22415 USF1_HUMAN upstream stimulatory factor 1 isoform 1 36 cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV transcription factor complex bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) CAGCTGACTGGATGCTGGCAA 0.537 NA 4 49 0 0 0 0 FCGR2B 2213 broad.mit.edu 37 1 161647336 161647336 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:161647336G>A uc001gaz.1 + 8 1018 c.926G>A c.(925-927)CGT>CAT p.R309H FCGR2B_uc001gay.1_Missense_Mutation_p.R308H|FCGR2B_uc001gba.1_Missense_Mutation_p.R289H|FCGR2B_uc001gbb.1_Missense_Mutation_p.R290H|FCGR2B_uc009wun.1_Missense_Mutation_p.R302H NM_004001 NP_003992 P31994 FCG2B_HUMAN Fc fragment of IgG, low affinity IIb, receptor 309 Cytoplasmic (Potential). immune response|interspecies interaction between organisms|regulation of immune response integral to membrane|plasma membrane IgG binding|receptor activity 0 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) GACCAGAACCGTATTTAGTCT 0.478 NA T ? ALL 9 199 0 0 0 0 OLFML2B 25903 broad.mit.edu 37 1 161993108 161993108 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:161993108G>A uc001gbu.2 - 1 537 c.113C>T c.(112-114)GCG>GTG p.A38V OLFML2B_uc010pkq.1_Missense_Mutation_p.A38V NM_015441 NP_056256 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B precursor 38 skin(1) 1 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) CTCCGCAGGCGCCACTGTCTG 0.597 NA 9 81 0 0 0 0 UCK2 7371 broad.mit.edu 37 1 165860506 165860506 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:165860506C>G uc001gdp.2 + 3 484 c.303C>G c.(301-303)ATC>ATG p.I101M UCK2_uc010plb.1_Nonsense_Mutation_p.S11* NM_012474 NP_036606 Q9BZX2 UCK2_HUMAN uridine-cytidine kinase 2 101 pyrimidine base metabolic process|pyrimidine nucleoside salvage cytosol ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity ovary(1) 1 all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155) TCAAAGAAATCACTGAAGGGA 0.413 NA 6 62 0 0 0 0 ADCY10 55811 broad.mit.edu 37 1 167817662 167817662 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:167817662C>G uc001ger.2 - 19 2672 c.2374G>C c.(2374-2376)GAA>CAA p.E792Q ADCY10_uc009wvk.2_Missense_Mutation_p.E700Q|ADCY10_uc010plj.1_Missense_Mutation_p.E639Q|ADCY10_uc009wvl.2_Missense_Mutation_p.E791Q NM_018417 NP_060887 Q96PN6 ADCYA_HUMAN adenylate cyclase 10 792 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding central_nervous_system(2)|ovary(1) 3 TGACAGACTTCTTCACTTTCC 0.338 NA 9 168 0 0 0 0 DNM3 26052 broad.mit.edu 37 1 172011177 172011177 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:172011177G>C uc001gie.2 + 8 1197 c.1021G>C c.(1021-1023)GAG>CAG p.E341Q DNM3_uc001gid.3_Missense_Mutation_p.E341Q|DNM3_uc009wwb.2_Missense_Mutation_p.E341Q|DNM3_uc001gif.2_Missense_Mutation_p.E341Q NM_015569 NP_056384 Q9UQ16 DYN3_HUMAN dynamin 3 isoform a 341 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding breast(1) 1 TGTGGACTTTGAGAAGAGAAT 0.378 NA 14 147 0 0 0 0 RASAL2 9462 broad.mit.edu 37 1 178414790 178414790 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:178414790C>T uc001glr.2 + 7 1301 c.1176C>T c.(1174-1176)GAC>GAT p.D392D RASAL2_uc001glq.2_Silent_p.D540D NM_004841 NP_004832 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 isoform 1 392 Ras-GAP. 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 ATCTTCATGACGCACTGGGTA 0.388 NA 10 120 0 0 0 0 KIAA1614 57710 broad.mit.edu 37 1 180885980 180885980 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:180885980C>T uc001gok.2 + 2 808 c.741C>T c.(739-741)GGC>GGT p.G247G NM_020950 NP_066001 Q5VZ46 K1614_HUMAN hypothetical protein LOC57710 247 ovary(3)|skin(1) 4 TTCCAGATGGCGTGGTGACAG 0.587 NA 26 323 0 0 0 0 CACNA1E 777 broad.mit.edu 37 1 181689432 181689432 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:181689432C>G uc001gow.2 + 14 2007 c.1842C>G c.(1840-1842)ATC>ATG p.I614M CACNA1E_uc009wxs.2_Missense_Mutation_p.I521M NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 614 Helical; Name=S5 of repeat II.|II. 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 TCCTCTTCATCGTTGTCTTTG 0.468 NA 4 42 0 0 0 0 C1orf14 81626 broad.mit.edu 37 1 182873548 182873548 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:182873548C>G uc001gpu.2 - 8 1639 c.1354G>C c.(1354-1356)GAA>CAA p.E452Q C1orf14_uc001gpv.2_Missense_Mutation_p.E333Q|C1orf14_uc010pnz.1_Missense_Mutation_p.E310Q|C1orf14_uc001gpw.2_Missense_Mutation_p.E172Q NM_030933 NP_112195 Q9BZQ2 SHP1L_HUMAN chromosome 1 open reading frame 14 524 0 Colorectal(1306;1.64e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00267) ATCATAATTTCCTCTCTCTTT 0.363 NA 8 131 0 0 0 0 ASPM 259266 broad.mit.edu 37 1 197111586 197111586 + Missense_Mutation SNP A A G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:197111586A>G uc001gtu.2 - 3 2053 c.1796T>C c.(1795-1797)ATC>ACC p.I599T ASPM_uc001gtv.2_Missense_Mutation_p.I599T|ASPM_uc001gtw.3_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 599 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 GATTCTTTTGATTTCTCGCAC 0.398 NA 17 358 0 0 0 0 CRB1 23418 broad.mit.edu 37 1 197390409 197390409 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:197390409C>T uc001gtz.2 + 6 1586 c.1451C>T c.(1450-1452)ACC>ATC p.T484I CRB1_uc010poz.1_Missense_Mutation_p.T415I|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.T372I|CRB1_uc010ppb.1_Missense_Mutation_p.T484I|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_5'UTR|CRB1_uc001gub.1_Missense_Mutation_p.T133I NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 484 Extracellular (Potential). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 GAAATCGCAACCACACTTTCA 0.498 NA 10 92 0 0 0 0 TNNT2 7139 broad.mit.edu 37 1 201333480 201333480 + Silent SNP G G T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:201333480G>T uc001gwf.2 - 11 504 c.435C>A c.(433-435)GCC>GCA p.A145A TNNT2_uc009wzn.2_5'Flank|TNNT2_uc009wzo.2_5'Flank|TNNT2_uc009wzp.2_5'Flank|TNNT2_uc001gwg.2_Silent_p.A135A|TNNT2_uc001gwh.2_Silent_p.A130A|TNNT2_uc001gwi.2_Silent_p.A105A|TNNT2_uc009wzr.2_Silent_p.A76A|TNNT2_uc001gwj.1_5'Flank|TNNT2_uc009wzs.1_Silent_p.A110A|TNNT2_uc001gwk.1_Silent_p.A76A|TNNT2_uc009wzt.1_Silent_p.A135A NM_000364 NP_000355 P45379 TNNT2_HUMAN troponin T type 2, cardiac isoform 1 145 ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|response to calcium ion|ventricular cardiac muscle tissue morphogenesis cytosol|troponin complex actin binding|tropomyosin binding|troponin C binding|troponin I binding 0 GCTGCTGCTCGGCCCGCTCTG 0.642 NA 5 49 1.24e-05 1.3e-05 1 0 PPFIA4 8497 broad.mit.edu 37 1 203025986 203025986 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:203025986G>A uc001gyz.2 + 6 1390 c.797G>A c.(796-798)CGC>CAC p.R266H PPFIA4_uc009xaj.2_Missense_Mutation_p.R897H|PPFIA4_uc010pqf.1_Missense_Mutation_p.R479H|PPFIA4_uc001gza.2_Missense_Mutation_p.R266H|PPFIA4_uc001gzb.1_5'UTR NM_015053 NP_055868 O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f 266 cell communication cell surface|cytoplasm protein binding ovary(4)|skin(1) 5 GGCGCCAAGCGCAAGGGCATC 0.592 NA 7 55 0 0 0 0 USH2A 7399 broad.mit.edu 37 1 215960129 215960129 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:215960129T>C uc001hku.1 - 52 10657 c.10270A>G c.(10270-10272)ATT>GTT p.I3424V NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 3424 Fibronectin type-III 19.|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) ACAGTGCAAATGTGGCTGGTA 0.463 NA HNSCC(13;0.011) 5 43 0 0 0 0 ITPKB 3707 broad.mit.edu 37 1 226829801 226829801 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:226829801T>C uc010pvo.1 - 5 2612 c.2272A>G c.(2272-2274)AAG>GAG p.K758E NM_002221 NP_002212 P27987 IP3KB_HUMAN 1D-myo-inositol-trisphosphate 3-kinase B 758 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity ovary(4)|central_nervous_system(1) 5 Prostate(94;0.0773) TTCCGGGCCTTCGTGAGCTCC 0.647 NA 20 238 0 0 0 0 ITPKB 3707 broad.mit.edu 37 1 226924442 226924442 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:226924442G>A uc010pvo.1 - 2 1058 c.718C>T c.(718-720)CGG>TGG p.R240W ITPKB_uc001hqh.2_Missense_Mutation_p.R240W NM_002221 NP_002212 P27987 IP3KB_HUMAN 1D-myo-inositol-trisphosphate 3-kinase B 240 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity ovary(4)|central_nervous_system(1) 5 Prostate(94;0.0773) GGGGCAGCCCGGCCGGGAAGA 0.602 NA 20 223 0 0 0 0 LYST 1130 broad.mit.edu 37 1 235969573 235969573 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:235969573C>T uc001hxj.2 - 6 3038 c.2863G>A c.(2863-2865)GAA>AAA p.E955K LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.E955K NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 955 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TGCATATGTTCAGGAGAAGGC 0.458 NA Chediak-Higashi_syndrome 9 130 0 0 0 0 CUBN 8029 broad.mit.edu 37 10 16957109 16957109 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr10:16957109T>C uc001ioo.2 - 47 7325 c.7273A>G c.(7273-7275)ACT>GCT p.T2425A NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 2425 CUB 17. 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) ACCACAGCAGTATTGCTAGAA 0.413 NA 15 115 0 0 0 0 ZNF438 220929 broad.mit.edu 37 10 31137576 31137576 + Silent SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr10:31137576C>A uc010qdz.1 - 7 2193 c.1758G>T c.(1756-1758)CTG>CTT p.L586L ZNF438_uc001ivn.2_Silent_p.L537L|ZNF438_uc010qdy.1_Silent_p.L576L|ZNF438_uc001ivo.3_Silent_p.L150L|ZNF438_uc009xlg.2_Silent_p.L586L|ZNF438_uc001ivp.3_Silent_p.L576L|ZNF438_uc010qea.1_Silent_p.L586L|ZNF438_uc010qeb.1_Silent_p.L586L|ZNF438_uc010qec.1_Silent_p.L150L NM_182755 NP_877432 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 isoform a 586 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1) 2 Prostate(175;0.0587) GCACTTCTTTCAGATGGCCAA 0.478 NA 22 151 3.6e-14 3.97e-14 1 0 PCDH15 65217 broad.mit.edu 37 10 55566511 55566511 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr10:55566511G>A uc010qhq.1 - 36 5272 c.4877C>T c.(4876-4878)GCG>GTG p.A1626V PCDH15_uc010qhr.1_Missense_Mutation_p.A1621V NM_001142771 NP_001136243 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD3-1 precursor Error:Variant_position_missing_in_Q96QU1_after_alignment equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) TGGCTTCACCGCTGTATTGTC 0.448 NA HNSCC(58;0.16) 21 270 0 0 0 0 DNMBP 23268 broad.mit.edu 37 10 101715777 101715777 + Nonsense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr10:101715777G>C uc001kqj.2 - 4 1546 c.1454C>G c.(1453-1455)TCA>TGA p.S485* NCRNA00093_uc001kqk.1_Intron NM_015221 NP_056036 Q6XZF7 DNMBP_HUMAN dynamin binding protein 485 intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity ovary(5)|skin(1) 6 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) CCTTGAAGCTGAAACAGAAGA 0.463 NA 12 260 0 0 0 0 PDCD11 22984 broad.mit.edu 37 10 105172995 105172995 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr10:105172995G>A uc001kwy.1 + 9 1188 c.1101G>A c.(1099-1101)GTG>GTA p.V367V NM_014976 NP_055791 Q14690 RRP5_HUMAN programmed cell death 11 367 S1 motif 4. mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding ovary(2)|breast(2)|skin(2)|central_nervous_system(1) 7 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) TTGGAGCAGTGCTGGATGATG 0.572 NA 16 137 0 0 0 0 KCNK18 338567 broad.mit.edu 37 10 118969745 118969745 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr10:118969745G>A uc010qsr.1 + 3 1090 c.1090G>A c.(1090-1092)GAC>AAC p.D364N NM_181840 NP_862823 Q7Z418 KCNKI_HUMAN potassium channel, subfamily K, member 18 364 Cytoplasmic (Potential). integral to membrane|plasma membrane upper_aerodigestive_tract(1) 1 Colorectal(252;0.19) all cancers(201;0.0211) CAGGCTGATTGACATATACAA 0.368 NA 10 210 0 0 0 0 JAKMIP3 282973 broad.mit.edu 37 10 133950586 133950586 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr10:133950586G>A uc001lkx.3 + 6 1180 c.1180G>A c.(1180-1182)GAG>AAG p.E394K NM_001105521 NP_001098991 Janus kinase and microtubule interacting protein breast(1) 1 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) AAGTCAGGATGAGAGAGAAGT 0.512 NA 13 84 0 0 0 0 STIM1 6786 broad.mit.edu 37 11 4112527 4112527 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:4112527C>T uc001lyv.2 + 12 2125 c.1557C>T c.(1555-1557)TCC>TCT p.S519S STIM1_uc009yef.2_Nonsense_Mutation_p.R532*|STIM1_uc009yeg.2_Silent_p.S346S NM_003156 NP_003147 Q13586 STIM1_HUMAN stromal interaction molecule 1 precursor 519 Cytoplasmic (Potential). activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule calcium ion binding|microtubule plus-end binding pancreas(1) 1 Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233) BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141) TGACCCATTCCGATTCGGAGT 0.463 NA 13 159 0 0 0 0 OR52R1 119695 broad.mit.edu 37 11 4825751 4825751 + Missense_Mutation SNP G G C rs112773148 byFrequency TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:4825751G>C uc010qym.1 - 1 97 c.97C>G c.(97-99)CTA>GTA p.L33V NM_001005177 NP_001005177 Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, Error:Variant_position_missing_in_Q8NGF1_after_alignment sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) TTATAAACTAGAATAATTTCA 0.303 NA 9 100 0 0 0 0 OR52A4 390053 broad.mit.edu 37 11 5142588 5142588 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:5142588T>C uc001lzz.1 - 1 221 c.221A>G c.(220-222)GAC>GGC p.D74G OR52A4_uc001maa.2_RNA NM_001005222 NP_001005222 olfactory receptor, family 52, subfamily A, ovary(2) 2 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) AAGTGAAATGTCTGTGGCTCC 0.423 NA 9 67 0 0 0 0 OR51B6 390058 broad.mit.edu 37 11 5373628 5373628 + Silent SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:5373628T>C uc010qzb.1 + 1 891 c.891T>C c.(889-891)ATT>ATC p.I297I HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004750 NP_001004750 Q9H340 O51B6_HUMAN olfactory receptor, family 51, subfamily B, 297 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTAAGCAGATTCAGAGTGGCA 0.423 NA 14 171 0 0 0 0 UBQLN3 50613 broad.mit.edu 37 11 5530434 5530434 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:5530434G>C uc001may.1 - 2 441 c.355C>G c.(355-357)CAG>GAG p.Q119E HBG2_uc001mak.1_Intron NM_017481 NP_059509 Q9H347 UBQL3_HUMAN ubiquilin 3 119 ovary(3) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAGCTTGGCTGAGGGAGTGAT 0.607 NA 6 78 0 0 0 0 CNGA4 1262 broad.mit.edu 37 11 6262839 6262839 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:6262839C>T uc001mco.2 + 5 1203 c.1096C>T c.(1096-1098)CCC>TCC p.P366S CNGA4_uc010raa.1_Missense_Mutation_p.P135S|CNGA4_uc001mcn.2_Missense_Mutation_p.P326S NM_001037329 NP_001032406 Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 366 cNMP.|Cytoplasmic (Potential). response to stimulus|sensory perception of smell cAMP binding skin(1) 1 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAAGCTGCAGCCCCAGACCTA 0.562 NA 24 215 0 0 0 0 ZNF214 7761 broad.mit.edu 37 11 7021140 7021140 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:7021140C>G uc001mfa.2 - 3 2077 c.1774G>C c.(1774-1776)GAT>CAT p.D592H ZNF214_uc010ray.1_Missense_Mutation_p.D592H|ZNF214_uc009yfh.1_Missense_Mutation_p.D592H NM_013249 NP_037381 Q9UL59 ZN214_HUMAN zinc finger protein 214 592 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081) GAATTATGATCAAATCCCTTA 0.333 NA 8 69 0 0 0 0 NLRP14 338323 broad.mit.edu 37 11 7064475 7064475 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:7064475C>T uc001mfb.1 + 4 1541 c.1218C>T c.(1216-1218)AGC>AGT p.S406S NM_176822 NP_789792 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 406 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) ATATTTCTAGCTTGTTCACAC 0.493 NA 20 199 0 0 0 0 ALX4 60529 broad.mit.edu 37 11 44286446 44286446 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:44286446C>T uc001myb.2 - 4 1298 c.1194G>A c.(1192-1194)ATG>ATA p.M398I NM_021926 NP_068745 Q9H161 ALX4_HUMAN aristaless-like homeobox 4 398 OAR. hair follicle development 0 CCTTGGCCTTCATGCGGAGGG 0.667 NA 9 70 0 0 0 0 SPRYD5 84767 broad.mit.edu 37 11 55652963 55652963 + Missense_Mutation SNP A A G rs2063276 by1000genomes TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:55652963A>G uc010rip.1 + 2 151 c.59A>G c.(58-60)AAC>AGC p.N20S SPRYD5_uc010riq.1_5'Flank NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN SPRY domain containing 5 20 RING-type. intracellular zinc ion binding 0 all_epithelial(135;0.226) ATCTGCATGAACTACTTCCTA 0.502 NA 7 138 0 0 0 0 GLYAT 10249 broad.mit.edu 37 11 58480325 58480325 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:58480325G>A uc001nnb.2 - 4 379 c.224C>T c.(223-225)ACT>ATT p.T75I GLYAT_uc001nnc.2_Missense_Mutation_p.T75I NM_201648 NP_964011 Q6IB77 GLYAT_HUMAN glycine-N-acyltransferase isoform a 75 acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process mitochondrial matrix glycine N-acyltransferase activity|glycine N-benzoyltransferase activity 0 Breast(21;0.0044)|all_epithelial(135;0.0157) Glycine(DB00145) GATTTGGTAAGTATTGGTATA 0.318 NA 12 137 0 0 0 0 OR4D11 219986 broad.mit.edu 37 11 59271520 59271520 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:59271520G>A uc001noa.1 + 1 472 c.472G>A c.(472-474)GTG>ATG p.V158M NM_001004706 NP_001004706 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, 158 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 CCACTCCATCGTGCAGATCTC 0.547 NA 26 252 0 0 0 0 DAK 26007 broad.mit.edu 37 11 61106642 61106642 + Missense_Mutation SNP G G A rs112242971 TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:61106642G>A uc001nre.2 + 4 555 c.298G>A c.(298-300)GGC>AGC p.G100S DDB1_uc010rlf.1_Intron|DAK_uc009ynm.1_Missense_Mutation_p.G30S NM_015533 NP_056348 Q3LXA3 DHAK_HUMAN dihydroxyacetone kinase 2 100 DhaK. glycerol metabolic process cytosol ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding 0 GGCCCAGGCCGGCACAGGTAA 0.672 NA 12 76 0 0 0 0 C11orf9 745 broad.mit.edu 37 11 61539102 61539102 + Nonsense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:61539102C>T uc001nsc.1 + 6 967 c.871C>T c.(871-873)CGA>TGA p.R291* C11orf9_uc001nse.1_Nonsense_Mutation_p.R282* NM_001127392 NP_001120864 Q9Y2G1 MRF_HUMAN myelin gene regulatory factor isoform 2 291 NDT80.|Pro-rich. central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent integral to membrane|nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 GCACCCCACTCGAGCCCCATC 0.657 NA 18 189 0 0 0 0 DPP3 10072 broad.mit.edu 37 11 66276553 66276553 + Nonsense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:66276553C>G uc001oig.1 + 18 2107 c.2045C>G c.(2044-2046)TCA>TGA p.S682* DPP3_uc001oif.1_Nonsense_Mutation_p.S682*|DPP3_uc010rpe.1_Nonsense_Mutation_p.S671*|DPP3_uc001oih.1_Missense_Mutation_p.Q50E|BBS1_uc001oii.1_5'UTR|BBS1_uc010rpf.1_5'Flank|BBS1_uc010rpg.1_5'Flank|BBS1_uc001oij.1_5'Flank|BBS1_uc001oik.1_5'Flank|BBS1_uc001oil.1_5'Flank NM_005700 NP_005691 Q9NY33 DPP3_HUMAN dipeptidyl peptidase III 682 proteolysis cytoplasm aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity ovary(1)|skin(1) 2 TCCCCAGGCTCAGACGTGCAG 0.502 NA 13 156 0 0 0 0 RBM4 5936 broad.mit.edu 37 11 66411036 66411036 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:66411036G>A uc009yrj.2 + 3 1016 c.528G>A c.(526-528)CCG>CCA p.P176P RBM4_uc009yrk.2_Silent_p.P151P|RBM4_uc001oiw.1_Silent_p.P176P|RBM4_uc001oix.1_Intron|RBM4_uc010rpj.1_Intron|RBM4_uc001oiy.1_Silent_p.P176P|RBM4_uc001oiz.1_Silent_p.P176P NM_002896 NP_002887 Q9BWF3 RBM4_HUMAN RNA binding motif protein 4 176 CCHC-type. circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade nuclear speck|nucleolus|stress granule miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding ovary(1) 1 Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266) AAGAGTGTCCGATAGATCGTT 0.572 NA 7 98 0 0 0 0 PITPNM1 9600 broad.mit.edu 37 11 67262398 67262398 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:67262398C>T uc001olx.2 - 17 2850 c.2661G>A c.(2659-2661)GCG>GCA p.A887A PITPNM1_uc001olw.2_Silent_p.A169A|PITPNM1_uc001oly.2_Silent_p.A887A|PITPNM1_uc001olz.2_Silent_p.A886A NM_004910 NP_004901 O00562 PITM1_HUMAN phosphatidylinositol transfer protein, 887 brain development|lipid metabolic process|phototransduction|protein transport cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity lung(2)|central_nervous_system(1) 3 CCTCGCATTCCGCCAGCTGTG 0.677 NA 12 132 0 0 0 0 TPCN2 219931 broad.mit.edu 37 11 68846367 68846367 + Missense_Mutation SNP A A G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:68846367A>G uc001oos.2 + 16 1534 c.1418A>G c.(1417-1419)AAC>AGC p.N473S TPCN2_uc001oor.2_Missense_Mutation_p.N388S|TPCN2_uc010rqg.1_Missense_Mutation_p.N473S|TPCN2_uc001oot.2_RNA NM_139075 NP_620714 Q8NHX9 TPC2_HUMAN two pore segment channel 2 473 Helical; Name=S2 of repeat II; (Potential). cellular calcium ion homeostasis|smooth muscle contraction endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) CAGATTCTCAACTGCGTCTTC 0.597 NA 20 123 0 0 0 0 KRTAP5-8 57830 broad.mit.edu 37 11 71249137 71249137 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:71249137C>T uc001oqr.1 + 1 67 c.36C>T c.(34-36)TCC>TCT p.S12S NM_021046 NP_066384 O75690 KRA58_HUMAN keratin associated protein 5-8 12 extracellular region|keratin filament structural constituent of epidermis 0 GCTGTGGCTCCGGCTGTGGGG 0.647 NA 18 123 0 0 0 0 MTNR1B 4544 broad.mit.edu 37 11 92715107 92715107 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:92715107C>T uc001pdk.1 + 2 821 c.718C>T c.(718-720)CTG>TTG p.L240L NM_005959 NP_005950 P49286 MTR1B_HUMAN melatonin receptor 1B 240 Cytoplasmic (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission integral to plasma membrane melatonin receptor activity ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Ramelteon(DB00980) AGAGAGCAGGCTGTGCCTGAA 0.577 NA 7 105 0 0 0 0 GPR83 10888 broad.mit.edu 37 11 94113678 94113678 + Silent SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:94113678G>C uc001pet.2 - 4 1081 c.909C>G c.(907-909)CTC>CTG p.L303L NM_016540 NP_057624 Q9NYM4 GPR83_HUMAN G protein-coupled receptor 83 precursor 303 Helical; Name=6; (Potential). integral to membrane|plasma membrane neuropeptide Y receptor activity central_nervous_system(2)|ovary(1) 3 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) GGAACCAGCAGAGGGCAAAGA 0.527 NA 9 110 0 0 0 0 PDGFD 80310 broad.mit.edu 37 11 103814225 103814225 + Missense_Mutation SNP T T A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:103814225T>A uc001phq.2 - 5 1099 c.727A>T c.(727-729)ACC>TCC p.T243S PDGFD_uc001php.2_Missense_Mutation_p.T237S NM_025208 NP_079484 Q9GZP0 PDGFD_HUMAN platelet derived growth factor D isoform 1 243 positive regulation of cell division endoplasmic reticulum lumen|extracellular region|Golgi membrane growth factor activity upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165) BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111) TACCGAGGGGTGTCCAGATAC 0.403 NA 5 54 0 0 0 0 PDGFD 80310 broad.mit.edu 37 11 103814353 103814353 + Missense_Mutation SNP A A G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:103814353A>G uc001phq.2 - 5 971 c.599T>C c.(598-600)GTA>GCA p.V200A PDGFD_uc001php.2_Missense_Mutation_p.V194A NM_025208 NP_079484 Q9GZP0 PDGFD_HUMAN platelet derived growth factor D isoform 1 200 positive regulation of cell division endoplasmic reticulum lumen|extracellular region|Golgi membrane growth factor activity upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165) BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111) GGGATCCGTTACTGATGGAGA 0.418 NA 5 43 0 0 0 0 KBTBD3 143879 broad.mit.edu 37 11 105924129 105924129 + Silent SNP A A G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:105924129A>G uc001pja.2 - 4 1927 c.1287T>C c.(1285-1287)CCT>CCC p.P429P KBTBD3_uc001pjb.2_Silent_p.P429P|KBTBD3_uc009yxm.2_Silent_p.P350P NM_198439 NP_940841 Q8NAB2 KBTB3_HUMAN BTB and kelch domain containing 3 425 Kelch 3. ovary(1)|central_nervous_system(1) 2 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299) CTTTGGAAAGAGGATTGTAAG 0.383 NA 14 97 0 0 0 0 AASDHPPT 60496 broad.mit.edu 37 11 105962080 105962080 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:105962080G>A uc001pjc.1 + 4 715 c.569G>A c.(568-570)GGA>GAA p.G190E AASDHPPT_uc010rvn.1_RNA|AASDHPPT_uc001pjd.1_Missense_Mutation_p.G43E NM_015423 NP_056238 Q9NRN7 ADPPT_HUMAN aminoadipate-semialdehyde 190 macromolecule biosynthetic process|pantothenate metabolic process cytosol holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding 0 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041) ATTGGTGTTGGACTAGGATTT 0.353 NA 18 202 0 0 0 0 EXPH5 23086 broad.mit.edu 37 11 108384641 108384641 + Missense_Mutation SNP T T A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:108384641T>A uc001pkk.2 - 6 1704 c.1593A>T c.(1591-1593)GAA>GAT p.E531D EXPH5_uc010rvy.1_Missense_Mutation_p.E343D|EXPH5_uc010rvz.1_Missense_Mutation_p.E375D|EXPH5_uc010rwa.1_Missense_Mutation_p.E455D NM_015065 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 isoform a 531 intracellular protein transport Rab GTPase binding skin(3)|ovary(2) 5 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) AAGAAAATGATTCCCAGTGTT 0.413 NA 9 133 0 0 0 0 SIK3 23387 broad.mit.edu 37 11 116730111 116730111 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:116730111G>A uc001ppy.2 - 19 2353 c.2317C>T c.(2317-2319)CGC>TGC p.R773C SIK3_uc001ppz.2_Missense_Mutation_p.R672C|SIK3_uc001pqa.2_Missense_Mutation_p.R773C|SIK3_uc001ppw.2_Missense_Mutation_p.R190C|SIK3_uc001ppx.2_Missense_Mutation_p.R211C|SIK3_uc001pqb.2_Missense_Mutation_p.R76C NM_025164 NP_079440 Q9Y2K2 SIK3_HUMAN serine/threonine-protein kinase QSK 773 Gln-rich. cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity p.L773F(1) ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1) 12 GAGATGCCGCGCCCACTGGAG 0.597 NA OREG0003491 type=REGULATORY REGION|Gene=AK022302|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 5 77 0 0 0 0 MLL 4297 broad.mit.edu 37 11 118352585 118352585 + Nonsense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:118352585C>T uc001pta.2 + 7 3813 c.3790C>T c.(3790-3792)CGA>TGA p.R1264* MLL_uc001ptb.2_Nonsense_Mutation_p.R1264*|MLL_uc001pte.1_RNA|MLL_uc009zab.1_Translation_Start_Site NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 1264 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) GCCTCCTCCACGAAAGCCCGT 0.542 NA T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL 9 87 0 0 0 0 TTC36 143941 broad.mit.edu 37 11 118398294 118398294 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:118398294G>A uc001ptg.1 + 1 85 c.85G>A c.(85-87)GGA>AGA p.G29R TTC36_uc010ryb.1_RNA|TTC36_uc010ryc.1_5'UTR NM_001080441 NP_001073910 A6NLP5 TTC36_HUMAN tetratricopeptide repeat domain 36 29 binding 0 ATTGGACCTCGGAGAGGAAGC 0.537 NA 24 291 0 0 0 0 CCDC77 84318 broad.mit.edu 37 12 551063 551063 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:551063G>C uc001qig.2 + 13 1624 c.1444G>C c.(1444-1446)GAG>CAG p.E482Q CCDC77_uc009zdk.2_Missense_Mutation_p.E450Q|CCDC77_uc010sdp.1_Missense_Mutation_p.E450Q|CCDC77_uc010sdq.1_Missense_Mutation_p.E450Q NM_032358 NP_115734 Q9BR77 CCD77_HUMAN coiled-coil domain containing 77 isoform a 482 Potential. centrosome ovary(1) 1 all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156) OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033) GTTTGGTCTGGAGAATGAACT 0.458 NA 16 295 0 0 0 0 LAG3 3902 broad.mit.edu 37 12 6886563 6886563 + Nonsense_Mutation SNP G G A rs61731925 TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:6886563G>A uc001qqt.3 + 6 1540 c.1191G>A c.(1189-1191)TGG>TGA p.W397* LAG3_uc001qqu.2_Nonsense_Mutation_p.W227* NM_002286 NP_002277 P18627 LAG3_HUMAN lymphocyte-activation protein 3 precursor 397 Extracellular (Potential).|Ig-like C2-type 3. integral to membrane antigen binding|MHC class II protein binding 0 CAGGACCTTGGCTGGAGGCAC 0.572 NA 16 167 0 0 0 0 PRH2 5555 broad.mit.edu 37 12 11083308 11083308 + Missense_Mutation SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:11083308C>A uc009zhr.2 + 3 186 c.148C>A c.(148-150)CCT>ACT p.P50T PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH2_uc001qzh.2_Missense_Mutation_p.P50T|PRH2_uc001qzi.3_Missense_Mutation_p.P50T NM_001110213 NP_001103683 P02810 PRPC_HUMAN proline-rich protein HaeIII subfamily 2 50 extracellular space protein binding 0 TCAGGGACCACCTTTGGGAGG 0.547 NA 20 232 5.04e-11 5.49e-11 1 0 TAS2R46 259292 broad.mit.edu 37 12 11214111 11214111 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:11214111G>A uc001qzp.1 - 1 783 c.783C>T c.(781-783)TTC>TTT p.F261F 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 46 261 Helical; Name=7; (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) CGCAGAACATGAAGACAGGTT 0.408 NA 34 285 0 0 0 0 TAS2R46 259292 broad.mit.edu 37 12 11214216 11214216 + Missense_Mutation SNP T T G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:11214216T>G uc001qzp.1 - 1 678 c.678A>C c.(676-678)AAA>AAC p.K226N 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 46 226 Cytoplasmic (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) TTTGCAAAGCTTTTATGTGGA 0.403 NA 23 303 0 0 0 0 LRP6 4040 broad.mit.edu 37 12 12274078 12274078 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:12274078G>A uc001rah.3 - 23 4966 c.4824C>T c.(4822-4824)CCC>CCT p.P1608P BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Silent_p.P1563P NM_002336 NP_002327 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 1608 Cytoplasmic (Potential).|PPPSP motif E. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1) 12 Prostate(47;0.0865) AGTCTGTACAGGGAGAGGGTG 0.527 NA 5 54 0 0 0 0 KRAS 3845 broad.mit.edu 37 12 25368473 25368473 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:25368473T>C uc001rgp.1 - 5 653 c.472A>G c.(472-474)ACA>GCA p.T158A KRAS_uc001rgq.1_Intron NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 158 activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CTCACCAATGTATAAAAAGCA 0.353 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 10 128 0 0 0 0 KIF21A 55605 broad.mit.edu 37 12 39735313 39735313 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:39735313C>G uc001rly.2 - 14 2061 c.1915G>C c.(1915-1917)GAA>CAA p.E639Q KIF21A_uc001rlw.2_5'Flank|KIF21A_uc001rlx.2_Missense_Mutation_p.E626Q|KIF21A_uc001rlz.2_Missense_Mutation_p.E626Q|KIF21A_uc010skl.1_Missense_Mutation_p.E626Q NM_017641 NP_060111 Q7Z4S6 KI21A_HUMAN kinesin family member 21A 639 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) GTACCTTTTTCATCTGATTCA 0.289 NA 7 104 0 0 0 0 SFRS2IP 9169 broad.mit.edu 37 12 46322292 46322292 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:46322292C>G uc001rox.2 - 11 1479 c.1192G>C c.(1192-1194)GAA>CAA p.E398Q SFRS2IP_uc001row.2_Missense_Mutation_p.E83Q|SFRS2IP_uc001roy.1_Missense_Mutation_p.E472Q NM_004719 NP_004710 Q99590 SCAFB_HUMAN splicing factor, arginine/serine-rich 2, 398 spliceosome assembly nucleus protein binding|zinc ion binding 0 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.209) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.1) GATGATTTTTCAGGGGCAGCT 0.408 NA 26 194 0 0 0 0 CCDC65 85478 broad.mit.edu 37 12 49312494 49312494 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:49312494G>C uc001rso.2 + 6 1061 c.834G>C c.(832-834)AAG>AAC p.K278N NM_033124 NP_149115 Q8IXS2 CCD65_HUMAN coiled-coil domain containing 65 278 ovary(1)|skin(1) 2 CAAAAGGCAAGATCATGATAC 0.433 NA 8 70 0 0 0 0 LASS5 91012 broad.mit.edu 37 12 50536932 50536932 + Missense_Mutation SNP C C T rs146511812 TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:50536932C>T uc001rwd.3 - 3 376 c.359G>A c.(358-360)CGA>CAA p.R120Q LASS5_uc001rwc.2_Missense_Mutation_p.R39Q|LASS5_uc001rwe.3_Missense_Mutation_p.R61Q|LASS5_uc001rwf.3_RNA|LASS5_uc010smq.1_5'UTR NM_147190 NP_671723 Q8N5B7 CERS5_HUMAN LAG1 homolog, ceramide synthase 5 120 Cytoplasmic (Potential).|Homeobox. ceramide biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity 0 TTGGATTTTTCGGACATTCCA 0.493 NA 38 428 0 0 0 0 KRT75 9119 broad.mit.edu 37 12 52824378 52824378 + Missense_Mutation SNP C C T rs143629874 TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:52824378C>T uc001saj.2 - 5 1004 c.982G>A c.(982-984)GAG>AAG p.E328K NM_004693 NP_004684 O95678 K2C75_HUMAN keratin 75 328 Coil 2.|Rod. keratin filament structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(357;0.192) GCAATGTCCTCGTATTGTGCT 0.572 NA 15 275 0 0 0 0 KRT4 3851 broad.mit.edu 37 12 53200995 53200995 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:53200995C>T uc001saz.2 - 9 1914 c.1643G>A c.(1642-1644)GGA>GAA p.G548E NM_002272 NP_002263 B4DRS2 B4DRS2_HUMAN keratin 4 474 keratin filament structural molecule activity ovary(4)|skin(2) 6 TCCTAATCCTCCGCTGATGCC 0.577 NA 7 63 0 0 0 0 HOXC13 3229 broad.mit.edu 37 12 54338828 54338828 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:54338828C>T uc001sei.2 + 2 896 c.781C>T c.(781-783)CGC>TGC p.R261C HOXC13_uc010sop.1_RNA NM_017410 NP_059106 P31276 HXC13_HUMAN homeobox C13 261 Homeobox. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 CCGGCGCGGGCGCAAGAAACG 0.602 NA T NUP98 AML 21 197 0 0 0 0 NFE2 4778 broad.mit.edu 37 12 54686499 54686499 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:54686499C>T uc009znk.2 - 2 1291 c.781G>A c.(781-783)GAG>AAG p.E261K NFE2_uc001sfq.2_Missense_Mutation_p.E261K|NFE2_uc001sfr.3_Missense_Mutation_p.E261K|NFE2_uc009znl.2_Missense_Mutation_p.E261K NM_006163 NP_006154 Q16621 NFE2_HUMAN nuclear factor, erythroid derived 2 isoform 1 261 blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter actin cytoskeleton|cytoplasm|PML body protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding 0 AGCTGGCTCTCTGTCAGCGGG 0.542 NA 15 82 0 0 0 0 COPZ1 22818 broad.mit.edu 37 12 54741612 54741612 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:54741612G>A uc001sfs.1 + 6 416 c.379G>A c.(379-381)GAA>AAA p.E127K COPZ1_uc001sft.2_Missense_Mutation_p.E76K|COPZ1_uc009znm.1_Missense_Mutation_p.E135K|COPZ1_uc010sot.1_Missense_Mutation_p.E104K NM_016057 NP_057141 P61923 COPZ1_HUMAN coatomer protein complex, subunit zeta 1 127 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol 0 GGCTGTGGATGAAATTGTAGA 0.502 NA 8 63 0 0 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54894338 54894338 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:54894338C>T uc001sgc.3 + 3 314 c.235C>T c.(235-237)CGT>TGT p.R79C NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Missense_Mutation_p.R29C NM_005337 NP_005328 P55160 NCKPL_HUMAN NCK-associated protein 1-like 79 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 ACCAGTACATCGTGAAAAAGC 0.378 NA 12 223 0 0 0 0 BAZ2A 11176 broad.mit.edu 37 12 57005681 57005681 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:57005681G>A uc001slq.1 - 6 1685 c.1491C>T c.(1489-1491)CCC>CCT p.P497P BAZ2A_uc001slp.1_Silent_p.P495P|BAZ2A_uc009zow.1_Silent_p.P465P NM_013449 NP_038477 Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 497 chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding 0 GGGAAGTTACGGGAGAGGCTT 0.542 NA 4 24 0 0 0 0 RDH16 8608 broad.mit.edu 37 12 57348692 57348692 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:57348692G>A uc001smi.3 - 2 742 c.570C>T c.(568-570)CTC>CTT p.L190L RDH16_uc009zpa.2_Intron NM_003708 NP_003699 O75452 RDH16_HUMAN retinol dehydrogenase 16 190 Cytoplasmic (Potential). lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome binding|electron carrier activity|retinol dehydrogenase activity 0 ACCCATACCTGAGGGAGTCAG 0.567 NA 6 70 0 0 0 0 CAND1 55832 broad.mit.edu 37 12 67699281 67699281 + Silent SNP A A G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:67699281A>G uc001stn.2 + 10 2270 c.1833A>G c.(1831-1833)ACA>ACG p.T611T CAND1_uc001sto.2_Intron NM_018448 NP_060918 Q86VP6 CAND1_HUMAN TIP120 protein 611 HEAT 14. cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) TGCCTAATACACTTCAGATTT 0.393 NA 16 323 0 0 0 0 MGAT4C 25834 broad.mit.edu 37 12 86373610 86373610 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:86373610C>G uc001tai.3 - 8 2144 c.894G>C c.(892-894)CAG>CAC p.Q298H MGAT4C_uc001tal.3_Missense_Mutation_p.Q298H|MGAT4C_uc001taj.3_Missense_Mutation_p.Q298H|MGAT4C_uc001tak.3_Missense_Mutation_p.Q298H|MGAT4C_uc010sum.1_Missense_Mutation_p.Q322H|MGAT4C_uc001tah.3_Missense_Mutation_p.Q298H NM_013244 NP_037376 Q9UBM8 MGT4C_HUMAN alpha-1,3-mannosyl-glycoprotein 298 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(3) 3 TCACATTTTTCTGAGCCAACA 0.383 NA 13 128 0 0 0 0 ELK3 2004 broad.mit.edu 37 12 96641121 96641121 + Missense_Mutation SNP C C T rs118124881 byFrequency TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:96641121C>T uc001teo.1 + 3 890 c.611C>T c.(610-612)ACG>ATG p.T204M NM_005230 NP_005221 P41970 ELK3_HUMAN ELK3 protein 204 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) CTGCCTTCCACGTCAGAGGCT 0.587 NA 20 118 0 0 0 0 NEDD1 121441 broad.mit.edu 37 12 97345732 97345732 + Missense_Mutation SNP A A T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:97345732A>T uc001teu.3 + 16 2223 c.1884A>T c.(1882-1884)GAA>GAT p.E628D NEDD1_uc001tev.3_Missense_Mutation_p.E628D|NEDD1_uc010svc.1_Missense_Mutation_p.E539D|NEDD1_uc001tew.2_Missense_Mutation_p.E635D|NEDD1_uc001tex.2_Missense_Mutation_p.E539D NM_152905 NP_690869 Q8NHV4 NEDD1_HUMAN neural precursor cell expressed, developmentally 628 cell division|G2/M transition of mitotic cell cycle|mitosis cytosol 0 TCTAGAATGAAATGCATTCTT 0.323 NA 9 93 0 0 0 0 NUAK1 9891 broad.mit.edu 37 12 106464625 106464625 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:106464625G>A uc001tlj.1 - 6 2139 c.759C>T c.(757-759)TTC>TTT p.F253F NM_014840 NP_055655 O60285 NUAK1_HUMAN AMPK-related protein kinase 5 253 Protein kinase. ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(1)|central_nervous_system(1) 2 CGAAACCATCGAAGGGCATTG 0.547 NA 10 98 0 0 0 0 TPCN1 53373 broad.mit.edu 37 12 113704019 113704019 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:113704019C>T uc001tuw.2 + 4 569 c.272C>T c.(271-273)CCC>CTC p.P91L TPCN1_uc001tux.2_Missense_Mutation_p.P163L|TPCN1_uc010syt.1_Missense_Mutation_p.P23L NM_017901 NP_060371 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 isoform 2 91 Cytoplasmic (Potential). endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity skin(2)|ovary(1) 3 TTCACCCACCCCAAGGATGCC 0.582 NA 35 381 0 0 0 0 TPCN1 53373 broad.mit.edu 37 12 113714796 113714796 + Nonsense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:113714796C>T uc001tuw.2 + 11 1312 c.1015C>T c.(1015-1017)CGA>TGA p.R339* TPCN1_uc001tux.2_Nonsense_Mutation_p.R411*|TPCN1_uc010syt.1_Nonsense_Mutation_p.R271* NM_017901 NP_060371 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 isoform 2 339 Cytoplasmic (Potential). endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity skin(2)|ovary(1) 3 ACTGCACAAGCGAACCGCTAT 0.567 NA 44 373 0 0 0 0 CIT 11113 broad.mit.edu 37 12 120150457 120150457 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:120150457G>A uc001txi.1 - 35 4550 c.4497C>T c.(4495-4497)GAC>GAT p.D1499D CIT_uc001txh.1_Silent_p.D1018D|CIT_uc001txj.1_Silent_p.D1541D NM_007174 NP_009105 O14578 CTRO_HUMAN citron 1499 PH. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1) 10 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) ATACATCCCCGTCGGGAAGGC 0.458 NA 10 88 0 0 0 0 SBNO1 55206 broad.mit.edu 37 12 123832576 123832576 + Missense_Mutation SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:123832576C>A uc010tap.1 - 2 237 c.237G>T c.(235-237)AGG>AGT p.R79S SBNO1_uc010tao.1_Missense_Mutation_p.R79S|SBNO1_uc010taq.1_5'UTR|SBNO1_uc001uet.2_Missense_Mutation_p.R79S|SBNO1_uc001ueu.2_Missense_Mutation_p.R79S|SBNO1_uc001uev.2_Intron|SBNO1_uc009zxy.1_Intron NM_018183 NP_060653 A3KN83 SBNO1_HUMAN sno, strawberry notch homolog 1 79 ATP binding|DNA binding|hydrolase activity breast(5)|skin(2)|ovary(1)|kidney(1) 9 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) TCATTCTTACCCTCACATTTA 0.313 NA 9 114 1.77e-08 1.9e-08 1 0 DHX37 57647 broad.mit.edu 37 12 125449066 125449066 + Missense_Mutation SNP T T A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:125449066T>A uc001ugy.2 - 15 2018 c.1919A>T c.(1918-1920)AAG>ATG p.K640M NM_032656 NP_116045 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 640 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding skin(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) TTTCTTGACCTTCCCACAGTC 0.607 NA 9 121 0 0 0 0 SLC7A1 6541 broad.mit.edu 37 13 30104749 30104749 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr13:30104749C>T uc001uso.2 - 5 1017 c.630G>A c.(628-630)GTG>GTA p.V210V NM_003045 NP_003036 P30825 CTR1_HUMAN solute carrier family 7 (cationic amino acid 210 Helical; (Potential). cellular nitrogen compound metabolic process|ion transport integral to plasma membrane receptor activity 0 Lung SC(185;0.0257)|Breast(139;0.238) all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) CCGATCCTTTCACAAATCCTG 0.443 NA 19 215 0 0 0 0 B3GALTL 145173 broad.mit.edu 37 13 31822041 31822041 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr13:31822041G>A uc010aaz.2 + 6 507 c.397G>A c.(397-399)GAA>AAA p.E133K NM_194318 NP_919299 Q6Y288 B3GLT_HUMAN beta 1,3-galactosyltransferase-like 133 Lumenal (Potential). fucose metabolic process endoplasmic reticulum membrane|integral to membrane transferase activity, transferring glycosyl groups ovary(2) 2 Lung SC(185;0.0257) all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184) CTTCTGTGAAGAAGAGACAAG 0.333 NA 12 100 0 0 0 0 N4BP2L2 10443 broad.mit.edu 37 13 33017343 33017343 + Missense_Mutation SNP A A G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr13:33017343A>G uc010abe.1 - 7 1353 c.1331T>C c.(1330-1332)ATA>ACA p.I444T N4BP2L2_uc001uug.2_Missense_Mutation_p.I327T|N4BP2L2_uc010abd.1_Missense_Mutation_p.I357T|N4BP2L2_uc001uuh.2_Missense_Mutation_p.I275T|N4BP2L2_uc001uuj.2_Intron|N4BP2L2_uc010tdz.1_Missense_Mutation_p.I429T NM_033111 NP_149102 Q92802 N42L2_HUMAN phosphonoformate immuno-associated protein 5 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 0 Lung SC(185;0.0262) all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243) TTCATTTCCTATCAGTAGTTT 0.418 NA 13 104 0 0 0 0 LPAR6 10161 broad.mit.edu 37 13 48985612 48985612 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr13:48985612G>C uc010acu.2 - 1 2042 c.948C>G c.(946-948)TTC>TTG p.F316L RB1_uc001vcb.2_Intron|LPAR6_uc001vcc.1_Intron|LPAR6_uc001vce.2_Missense_Mutation_p.F316L|LPAR6_uc001vcf.2_Missense_Mutation_p.F316L NM_001162498 NP_001155970 P43657 LPAR6_HUMAN G-protein coupled purinergic receptor P2Y5 316 Cytoplasmic (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.?(4) ovary(4) 4 GAACTTCAGAGAATCTGAAGT 0.338 NA 15 158 0 0 0 0 PCDH17 27253 broad.mit.edu 37 13 58299367 58299367 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr13:58299367G>C uc001vhq.1 + 4 4311 c.3419G>C c.(3418-3420)AGA>ACA p.R1140T PCDH17_uc010aec.1_Missense_Mutation_p.R1139T|PCDH17_uc001vhr.1_Missense_Mutation_p.R229T NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 1140 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) GAAGTTGTGAGAGAAATTGAT 0.488 NA 28 328 0 0 0 0 DIAPH3 81624 broad.mit.edu 37 13 60686226 60686226 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr13:60686226G>A uc001vht.2 - 3 527 c.308C>T c.(307-309)TCA>TTA p.S103L DIAPH3_uc001vhw.1_Missense_Mutation_p.S92L|DIAPH3_uc010aed.1_Missense_Mutation_p.S92L|DIAPH3_uc010aee.1_Intron NM_001042517 NP_001035982 Q9NSV4 DIAP3_HUMAN diaphanous homolog 3 isoform a 103 actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2) 2 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) AGGTGCTGCTGAGCAATCACT 0.408 NA 32 380 0 0 0 0 KLF5 688 broad.mit.edu 37 13 73636025 73636025 + Silent SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr13:73636025G>C uc001vje.2 + 2 612 c.288G>C c.(286-288)CTG>CTC p.L96L KLF5_uc001vjd.2_Silent_p.L5L NM_001730 NP_001721 Q13887 KLF5_HUMAN Kruppel-like factor 5 96 transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1)|pancreas(1) 3 Prostate(6;0.00187)|Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.0011) AGAAGTATCTGACACCTCAGC 0.428 NA 23 220 0 0 0 0 FAM155A 728215 broad.mit.edu 37 13 108518310 108518310 + Missense_Mutation SNP G G T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr13:108518310G>T uc001vql.2 - 1 1151 c.635C>A c.(634-636)CCC>CAC p.P212H NM_001080396 NP_001073865 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 212 integral to membrane binding skin(1) 1 GAGCGGAGTGGGATGCTTGCT 0.587 NA 11 206 0.000673444 0.00069413 1 0 LIG4 3981 broad.mit.edu 37 13 108861664 108861664 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr13:108861664G>A uc001vqn.2 - 2 2226 c.1953C>T c.(1951-1953)AAC>AAT p.N651N LIG4_uc001vqo.2_Silent_p.N651N|LIG4_uc010agg.1_Silent_p.N584N|LIG4_uc010agf.2_Silent_p.N651N|LIG4_uc001vqp.2_Silent_p.N651N NM_002312 NP_002303 P49917 DNLI4_HUMAN DNA ligase IV 651 cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding 0 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) TTTTGTTAACGTTAGTAAGGT 0.373 NA NHEJ 12 148 0 0 0 0 ANKRD10 55608 broad.mit.edu 37 13 111563113 111563113 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr13:111563113T>C uc001vrn.2 - 2 350 c.215A>G c.(214-216)GAG>GGG p.E72G ANKRD10_uc001vro.1_Missense_Mutation_p.E72G|ANKRD10_uc001vrp.1_Missense_Mutation_p.E72G NM_017664 NP_060134 Q9NXR5 ANR10_HUMAN ankyrin repeat domain 10 72 ANK 2. central_nervous_system(1) 1 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208) CACTAAGCACTCCAACTTCGA 0.478 NA 4 48 0 0 0 0 DCUN1D2 55208 broad.mit.edu 37 13 114115389 114115389 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr13:114115389G>A uc001vtr.1 - 5 622 c.583C>T c.(583-585)CTC>TTC p.L195F DCUN1D2_uc001vts.1_RNA|DCUN1D2_uc010agw.1_Missense_Mutation_p.L62F NM_001014283 NP_001014305 Q6PH85 DCNL2_HUMAN DCN1, defective in cullin neddylation 1, domain 195 DCUN1. 0 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234) GTGTTCCAGAGATCTAAAAAT 0.418 NA 8 59 0 0 0 0 ZNF828 283489 broad.mit.edu 37 13 115089332 115089332 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr13:115089332G>A uc010ahb.2 + 3 344 c.15G>A c.(13-15)CAG>CAA p.Q5Q ZNF828_uc001vuv.2_Silent_p.Q5Q|ZNF828_uc010tko.1_Silent_p.Q5Q NM_001164144 NP_001157616 Q96JM3 ZN828_HUMAN zinc finger protein 828 5 attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation condensed chromosome kinetochore|cytoplasm|nucleus|spindle nucleic acid binding|protein binding|zinc ion binding ovary(2) 2 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_epithelial(44;0.122)|all_lung(25;0.123) BRCA - Breast invasive adenocarcinoma(86;0.104) OV - Ovarian serous cystadenocarcinoma(48;0.193)|Epithelial(10;0.197) AAGCATTCCAGGAACTTCGTA 0.378 NA 13 156 0 0 0 0 NGDN 25983 broad.mit.edu 37 14 23945268 23945268 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr14:23945268G>A uc001wjy.2 + 7 478 c.451G>A c.(451-453)GCA>ACA p.A151T NGDN_uc001wjz.2_Missense_Mutation_p.A151T|NGDN_uc001wka.2_5'Flank NM_001042635 NP_001036100 Q8NEJ9 NGDN_HUMAN neuroguidin isoform 1 151 Necessary for interaction with EIF4E (By similarity). regulation of translation axon|cytoplasm|dendrite|filopodium|nucleus 0 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00654) GGAAGATGAAGCAGAAGATGA 0.413 NA 10 120 0 0 0 0 CMA1 1215 broad.mit.edu 37 14 24975727 24975727 + Missense_Mutation SNP C C T rs13306252 by1000genomes TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr14:24975727C>T uc001wpp.1 - 3 323 c.293G>A c.(292-294)CGT>CAT p.R98H CMA1_uc010alx.1_5'UTR NM_001836 NP_001827 P23946 CMA1_HUMAN chymase 1, mast cell preproprotein 98 Peptidase S1. interleukin-1 beta biosynthetic process|proteolysis extracellular region serine-type endopeptidase activity 0 GBM - Glioblastoma multiforme(265;0.0271) TTTTGGATGACGGAATTGCTT 0.423 NA 23 189 0 0 0 0 ARHGAP5 394 broad.mit.edu 37 14 32562761 32562761 + Missense_Mutation SNP A A C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr14:32562761A>C uc001wrl.2 + 2 3125 c.2886A>C c.(2884-2886)GAA>GAC p.E962D ARHGAP5_uc001wrm.2_Missense_Mutation_p.E962D|ARHGAP5_uc001wrn.2_Missense_Mutation_p.E962D|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron NM_001173 NP_001025226 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 isoform b 962 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding ovary(4)|central_nervous_system(1) 5 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) ATCAAAGTGAAGATGTTTTTC 0.358 NA 20 137 0 0 0 0 AKAP6 9472 broad.mit.edu 37 14 33292499 33292499 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr14:33292499G>A uc001wrq.2 + 13 5650 c.5480G>A c.(5479-5481)GGC>GAC p.G1827D NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 1827 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) GAGATGAAGGGCAGTAAAGAT 0.383 NA 7 131 0 0 0 0 CTAGE5 4253 broad.mit.edu 37 14 39782616 39782616 + Missense_Mutation SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr14:39782616C>A uc001wvg.3 + 14 1602 c.1266C>A c.(1264-1266)AGC>AGA p.S422R CTAGE5_uc010tqe.1_Missense_Mutation_p.S384R|CTAGE5_uc001wuz.3_Missense_Mutation_p.S410R|CTAGE5_uc001wuy.3_Missense_Mutation_p.S342R|CTAGE5_uc001wvb.3_Missense_Mutation_p.S393R|CTAGE5_uc001wvc.3_Missense_Mutation_p.S367R|CTAGE5_uc001wva.3_Missense_Mutation_p.S393R|CTAGE5_uc001wvh.3_Missense_Mutation_p.S422R|CTAGE5_uc001wvf.3_Missense_Mutation_p.S347R|CTAGE5_uc001wvi.3_Missense_Mutation_p.S427R|CTAGE5_uc010amz.2_Missense_Mutation_p.S38R|CTAGE5_uc001wvj.3_Missense_Mutation_p.S393R NM_005930 NP_005921 O15320 CTGE5_HUMAN CTAGE family, member 5 isoform 1 422 Potential. enzyme activator activity|protein binding 0 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0475) AAAAGATCAGCCATGCCACTG 0.308 NA 10 108 4.69e-08 5e-08 1 0 RPL10L 140801 broad.mit.edu 37 14 47120636 47120636 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr14:47120636T>C uc001wwg.2 - 1 393 c.304A>G c.(304-306)ATG>GTG p.M102V NM_080746 NP_542784 Q96L21 RL10L_HUMAN ribosomal protein L10-like protein 102 spermatogenesis|translation cytosolic large ribosomal subunit|nucleus structural constituent of ribosome ovary(1) 1 CAGGACAACATCTTGTTGATG 0.527 NA 13 95 0 0 0 0 ARF6 382 broad.mit.edu 37 14 50360887 50360887 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr14:50360887C>G uc001wxg.3 + 2 1054 c.433C>G c.(433-435)CGG>GGG p.R145G NM_001663 NP_001654 P62330 ARF6_HUMAN ADP-ribosylation factor 6 145 cell adhesion|cellular component movement|cortical actin cytoskeleton organization|negative regulation of receptor-mediated endocytosis|positive regulation of actin filament polymerization|positive regulation of establishment of protein localization in plasma membrane|protein localization at cell surface|protein transport|regulation of dendritic spine development|regulation of filopodium assembly|regulation of Rac protein signal transduction|ruffle organization|small GTPase mediated signal transduction|vesicle-mediated transport cell cortex|endosome membrane|filopodium membrane|Golgi apparatus|membrane fraction|ruffle GTP binding|GTPase activity|thioesterase binding 0 all_epithelial(31;0.000822)|Breast(41;0.0117) GACCCGGATTCGGGACAGGAA 0.552 NA 8 62 0 0 0 0 WDHD1 11169 broad.mit.edu 37 14 55453969 55453969 + Nonsense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr14:55453969G>A uc001xbm.1 - 14 1741 c.1663C>T c.(1663-1665)CGA>TGA p.R555* WDHD1_uc010aom.1_Nonsense_Mutation_p.R72*|WDHD1_uc001xbn.1_Nonsense_Mutation_p.R432* NM_007086 NP_009017 O75717 WDHD1_HUMAN WD repeat and HMG-box DNA binding protein 1 555 cytoplasm|nucleoplasm DNA binding skin(1) 1 GTAAACAATCGAAGAAGCAGG 0.458 NA 8 96 0 0 0 0 C14orf101 54916 broad.mit.edu 37 14 57092099 57092099 + Splice_Site SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr14:57092099G>C uc001xcm.2 + 12 1521 c.1399_splice c.e12-1 p.M467_splice C14orf101_uc001xcj.2_Splice_Site|C14orf101_uc001xcl.1_Splice_Site|C14orf101_uc001xcn.2_Splice_Site|C14orf101_uc010trf.1_Splice_Site|C14orf101_uc001xco.2_Splice_Site NM_017799 NP_060269 Q9NX78 CN101_HUMAN hypothetical protein LOC54916 integral to membrane breast(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(311;0.226) TTTTCTGGCAGATGATGACTT 0.323 NA 8 150 0 0 0 0 MNAT1 4331 broad.mit.edu 37 14 61201668 61201668 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr14:61201668C>T uc001xfd.2 + 1 199 c.88C>T c.(88-90)CTC>TTC p.L30F MNAT1_uc010apq.1_Missense_Mutation_p.L30F|MNAT1_uc001xfe.2_Missense_Mutation_p.L30F NM_002431 NP_002422 P51948 MAT1_HUMAN menage a trois 1 (CAK assembly factor) 30 RING-type. cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein complex assembly|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction cytoplasm|holo TFIIH complex protein N-terminus binding|zinc ion binding ovary(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(108;0.0174) CGGACACACTCTGTGAGTTGG 0.602 NA Direct_reversal_of_damage|NER 6 76 0 0 0 0 KCNH5 27133 broad.mit.edu 37 14 63174448 63174448 + Silent SNP G G A rs138093802 TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr14:63174448G>A uc001xfx.2 - 11 2796 c.2745C>T c.(2743-2745)CAC>CAT p.H915H KCNH5_uc001xfy.2_3'UTR NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, 915 CAD (involved in subunit assembly) (By similarity).|Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity ovary(4)|skin(4)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) CTTTGAGTTCGTGTTTGACTT 0.512 NA 27 294 0 0 0 0 KCNH5 27133 broad.mit.edu 37 14 63174587 63174587 + Missense_Mutation SNP G G T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr14:63174587G>T uc001xfx.2 - 11 2657 c.2606C>A c.(2605-2607)ACA>AAA p.T869K KCNH5_uc001xfy.2_3'UTR NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, 869 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity ovary(4)|skin(4)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) GTCACTTTTTGTAATTCCACT 0.498 NA 14 188 1.05e-09 1.14e-09 1 0 ZFYVE26 23503 broad.mit.edu 37 14 68274151 68274151 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr14:68274151T>C uc001xka.2 - 5 989 c.850A>G c.(850-852)ACA>GCA p.T284A ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.T284A|ZFYVE26_uc010tta.1_Missense_Mutation_p.T284A NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 284 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) GGCTTTTCTGTGACCTTCTCT 0.597 NA 9 48 0 0 0 0 PCNX 22990 broad.mit.edu 37 14 71444229 71444229 + Missense_Mutation SNP A A T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr14:71444229A>T uc001xmo.2 + 6 1621 c.1175A>T c.(1174-1176)GAC>GTC p.D392V PCNX_uc001xmn.3_Missense_Mutation_p.D392V|PCNX_uc010are.1_Missense_Mutation_p.D392V NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 392 integral to membrane ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) ACGGACCGGGACACTAACAGT 0.498 NA 10 109 0 0 0 0 FAM161B 145483 broad.mit.edu 37 14 74411111 74411111 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr14:74411111C>G uc001xpd.1 - 3 958 c.852G>C c.(850-852)AAG>AAC p.K284N NM_152445 NP_689658 hypothetical protein LOC145483 ovary(1) 1 GCTTGGAGATCTTGGCTTCAG 0.542 NA 17 201 0 0 0 0 FAM161B 145483 broad.mit.edu 37 14 74411195 74411195 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr14:74411195C>T uc001xpd.1 - 3 874 c.768G>A c.(766-768)TTG>TTA p.L256L NM_152445 NP_689658 hypothetical protein LOC145483 ovary(1) 1 TGAAGGGCTTCAAAGAAGAGA 0.562 NA 8 128 0 0 0 0 TSHR 7253 broad.mit.edu 37 14 81610460 81610460 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr14:81610460G>A uc001xvd.1 + 10 2214 c.2058G>A c.(2056-2058)CAG>CAA p.Q686Q NM_000369 NP_000360 P16473 TSHR_HUMAN thyroid stimulating hormone receptor isoform 1 686 Cytoplasmic (Potential). cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1) 299 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) AGGCCTTCCAGAGGGATGTGT 0.478 NA Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 28 228 0 0 0 0 TTC7B 145567 broad.mit.edu 37 14 91044465 91044465 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr14:91044465C>G uc001xyp.2 - 19 2417 c.2295G>C c.(2293-2295)AAG>AAC p.K765N TTC7B_uc001xyo.2_Missense_Mutation_p.K209N|TTC7B_uc010ats.2_RNA NM_001010854 NP_001010854 Q86TV6 TTC7B_HUMAN tetratricopeptide repeat domain 7B 765 TPR 10. binding ovary(2) 2 Melanoma(154;0.222) GCTGCATGCTCTTCACGTGGG 0.647 NA 4 16 0 0 0 0 PRIMA1 145270 broad.mit.edu 37 14 94187823 94187823 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr14:94187823G>A uc001ybw.1 - 5 471 c.429C>T c.(427-429)AAC>AAT p.N143N PRIMA1_uc001ybx.1_RNA NM_178013 NP_821092 Q86XR5 PRIMA_HUMAN proline rich membrane anchor 1 precursor 143 Cytoplasmic (Potential). neurotransmitter catabolic process cell junction|integral to membrane|synapse large_intestine(1)|skin(1) 2 all_cancers(154;0.127) Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229) CTACTCCTTTGTTGCTCTGCG 0.572 NA 5 75 0 0 0 0 CLMN 79789 broad.mit.edu 37 14 95670573 95670573 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr14:95670573C>T uc001yef.2 - 9 1229 c.1113G>A c.(1111-1113)GCG>GCA p.A371A NM_024734 NP_079010 Q96JQ2 CLMN_HUMAN calmin 371 integral to membrane actin binding 0 Epithelial(152;0.193) TGTCTGACAGCGCATGGCTGG 0.542 NA 19 140 0 0 0 0 ATP10A 57194 broad.mit.edu 37 15 25925395 25925395 + Missense_Mutation SNP T T A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr15:25925395T>A uc010ayu.2 - 20 3845 c.3739A>T c.(3739-3741)ATT>TTT p.I1247F NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 1247 Helical; (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) GCATTGTAAATCAAAGCCACG 0.478 NA 14 141 0 0 0 0 C15orf55 256646 broad.mit.edu 37 15 34648388 34648388 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr15:34648388C>G uc001zif.2 + 7 2250 c.2095C>G c.(2095-2097)CAG>GAG p.Q699E C15orf55_uc010ucc.1_Missense_Mutation_p.Q727E|C15orf55_uc010ucd.1_Missense_Mutation_p.Q717E NM_175741 NP_786883 Q86Y26 NUT_HUMAN nuclear protein in testis 699 cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) midline_organs(25)|ovary(2)|lung(2)|skin(1) 30 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) CCCCATGGCTCAGAGTTATGA 0.572 NA T BRD3|BRD4 lethal midline carcinoma 6 82 0 0 0 0 MAPKBP1 23005 broad.mit.edu 37 15 42104154 42104154 + Splice_Site SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr15:42104154G>A uc001zok.3 + 6 614 c.328_splice c.e6-1 p.S110_splice MAPKBP1_uc001zoj.3_Splice_Site_p.S110_splice|MAPKBP1_uc010bcj.2_Splice_Site|MAPKBP1_uc010bci.2_Splice_Site_p.S110_splice|MAPKBP1_uc010udb.1_Splice_Site|MAPKBP1_uc010bck.2_Splice_Site|MAPKBP1_uc010bcl.2_5'Flank NM_001128608 NP_001122080 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 10 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) CCTCCCTGCAGAGTGGGCACA 0.607 NA OREG0023077 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 91 0 0 0 0 EHD4 30844 broad.mit.edu 37 15 42211429 42211429 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr15:42211429G>C uc001zot.2 - 4 966 c.903C>G c.(901-903)ATC>ATG p.I301M NM_139265 NP_644670 Q9H223 EHD4_HUMAN EH-domain containing 4 301 endocytic recycling|protein homooligomerization early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding ovary(2) 2 all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538) TCGCTCGCTTGATGAGGTCGT 0.632 NA 6 98 0 0 0 0 CDAN1 146059 broad.mit.edu 37 15 43021249 43021249 + Missense_Mutation SNP T T G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr15:43021249T>G uc001zql.2 - 19 2734 c.2617A>C c.(2617-2619)ATT>CTT p.I873L CDAN1_uc001zqj.2_RNA|CDAN1_uc001zqk.2_Missense_Mutation_p.I199L NM_138477 NP_612486 Q8IWY9 CDAN1_HUMAN codanin 1 873 integral to membrane protein binding ovary(2) 2 all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;2.49e-07) TTTGATCCAATTCTTTCTGCC 0.532 NA 11 152 0 0 0 0 TP53BP1 7158 broad.mit.edu 37 15 43720272 43720272 + Missense_Mutation SNP C C T rs144680391 by1000genomes TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr15:43720272C>T uc001zrs.2 - 18 3903 c.3755G>A c.(3754-3756)CGT>CAT p.R1252H TP53BP1_uc010udp.1_Missense_Mutation_p.R1252H|TP53BP1_uc001zrq.3_Missense_Mutation_p.R1257H|TP53BP1_uc001zrr.3_Missense_Mutation_p.R1257H|TP53BP1_uc010udq.1_Missense_Mutation_p.R1257H NM_005657 NP_005648 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 isoform 3 1252 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1) 7 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) TGTAATGACACGAGTGACAAG 0.408 NA Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes 22 256 0 0 0 0 CATSPER2 117155 broad.mit.edu 37 15 43940128 43940128 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr15:43940128G>A uc001zsh.2 - 2 347 c.132C>T c.(130-132)ATC>ATT p.I44I CATSPER2_uc010bdm.2_RNA|CATSPER2_uc001zsi.2_Silent_p.I44I|CATSPER2_uc001zsj.2_Silent_p.I44I|CATSPER2_uc001zsk.2_Silent_p.I44I|CATSPER2_uc001zsl.1_Intron NM_172095 NP_742093 Q96P56 CTSR2_HUMAN sperm-associated cation channel 2 isoform 2 44 Cytoplasmic (Potential). cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|protein binding|voltage-gated ion channel activity ovary(1) 1 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) GTAACTCCCTGATAGTGTGCC 0.453 NA 13 210 0 0 0 0 SQRDL 58472 broad.mit.edu 37 15 45981265 45981265 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr15:45981265T>C uc001zvt.2 + 10 1334 c.1145T>C c.(1144-1146)GTG>GCG p.V382A SQRDL_uc001zvu.2_Missense_Mutation_p.V382A|SQRDL_uc001zvv.2_Missense_Mutation_p.V382A NM_021199 NP_067022 Q9Y6N5 SQRD_HUMAN sulfide dehydrogenase like precursor 382 oxidoreductase activity ovary(1) 1 Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417) all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188) TGTCCACTGGTGACCGGCTAC 0.393 NA 33 307 0 0 0 0 AP4E1 23431 broad.mit.edu 37 15 51221216 51221216 + Nonsense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr15:51221216C>T uc001zyx.1 + 6 583 c.553C>T c.(553-555)CGA>TGA p.R185* AP4E1_uc010ufi.1_Nonsense_Mutation_p.R185*|AP4E1_uc010ufj.1_RNA|AP4E1_uc010ufk.1_RNA NM_007347 NP_031373 Q9UPM8 AP4E1_HUMAN adaptor-related protein complex 4, epsilon 1 185 intracellular protein transport|vesicle-mediated transport COPI vesicle coat binding|structural molecule activity 0 all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364) GGAGATTGTACGAAGAAAAGC 0.318 NA 6 90 0 0 0 0 HERC1 8925 broad.mit.edu 37 15 64017534 64017534 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr15:64017534C>T uc002amp.2 - 18 3673 c.3525G>A c.(3523-3525)ACG>ACA p.T1175T HERC1_uc010uil.1_Intron NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 1175 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 TGAACAGTGGCGTTTTCATCC 0.473 NA 8 63 0 0 0 0 ZNF609 23060 broad.mit.edu 37 15 64792307 64792307 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr15:64792307C>T uc002ann.2 + 1 689 c.689C>T c.(688-690)CCG>CTG p.P230L ZNF609_uc010bgy.2_Missense_Mutation_p.P230L NM_015042 NP_055857 O15014 ZN609_HUMAN zinc finger protein 609 230 nucleus zinc ion binding upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 GGAACTAAACCGGAGCCAGAG 0.532 NA 8 60 0 0 0 0 ISLR 3671 broad.mit.edu 37 15 74468208 74468208 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr15:74468208G>A uc002axg.1 + 2 1291 c.1009G>A c.(1009-1011)GAG>AAG p.E337K ISLR_uc002axh.1_Missense_Mutation_p.E337K NM_005545 NP_005536 O14498 ISLR_HUMAN immunoglobulin superfamily containing 337 Ig-like. cell adhesion extracellular region large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 GGGCAGTGCTGAGAGCTCAGT 0.622 NA 4 39 0 0 0 0 SIN3A 25942 broad.mit.edu 37 15 75702243 75702243 + Silent SNP C C T rs142678572 byFrequency TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr15:75702243C>T uc002bai.2 - 8 1510 c.1251G>A c.(1249-1251)CCG>CCA p.P417P SIN3A_uc002baj.2_Silent_p.P417P|SIN3A_uc010uml.1_Silent_p.P417P NM_015477 NP_056292 Q96ST3 SIN3A_HUMAN transcriptional co-repressor Sin3A 417 Interaction with REST (By similarity). blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|Sin3 complex protein binding skin(3)|ovary(1)|lung(1) 5 TGGGCCTCTGCGGCTTGTTGT 0.498 NA 15 139 0 0 0 0 RASGRF1 5923 broad.mit.edu 37 15 79327554 79327554 + Splice_Site SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr15:79327554T>C uc002beq.2 - 6 1254 c.879_splice c.e6-1 p.S293_splice RASGRF1_uc002bep.2_Splice_Site_p.S293_splice|RASGRF1_uc010blm.1_Splice_Site_p.S215_splice|RASGRF1_uc002ber.3_Splice_Site_p.S293_splice NM_002891 NP_002882 Q13972 RGRF1_HUMAN Ras protein-specific guanine activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity skin(4)|ovary(1)|central_nervous_system(1) 6 ATGGTTTCGCTGAAAGAGAAA 0.562 NA 3 16 0 0 0 0 FSD2 123722 broad.mit.edu 37 15 83456014 83456014 + Missense_Mutation SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr15:83456014C>A uc002bjd.2 - 2 296 c.129G>T c.(127-129)ATG>ATT p.M43I FSD2_uc010uol.1_Missense_Mutation_p.M43I|FSD2_uc010uom.1_Missense_Mutation_p.M43I NM_001007122 NP_001007123 A1L4K1 FSD2_HUMAN fibronectin type III and SPRY domain containing 43 central_nervous_system(1) 1 CTACTTTCCTCATCCTAGTGT 0.483 NA 23 231 8.25e-16 9.1e-16 1 0 C15orf40 123207 broad.mit.edu 37 15 83679041 83679041 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr15:83679041G>A uc010uoo.1 - 2 220 c.186C>T c.(184-186)TGC>TGT p.C62C C15orf40_uc010uon.1_Silent_p.C62C|C15orf40_uc002bjm.2_Silent_p.C62C|C15orf40_uc010uop.1_Silent_p.C62C|C15orf40_uc010uoq.1_RNA|C15orf40_uc010uor.1_Silent_p.C62C NM_001160115 NP_001153587 Q8WUR7 CO040_HUMAN hypothetical protein LOC123207 isoform d 35 skin(1) 1 CTATGGTGACGCATCCTTTAG 0.483 NA 26 220 0 0 0 0 BTBD1 53339 broad.mit.edu 37 15 83698895 83698895 + Nonsense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr15:83698895G>A uc002bjn.2 - 5 1251 c.1048C>T c.(1048-1050)CGA>TGA p.R350* BTBD1_uc002bjo.2_Nonsense_Mutation_p.R350* NM_025238 NP_079514 Q9H0C5 BTBD1_HUMAN BTB (POZ) domain containing 1 isoform 1 350 cytoplasmic mRNA processing body|protein complex protein binding ovary(1)|central_nervous_system(1) 2 all cancers(203;0.000186) TACCTGATTCGATCACTCGTC 0.448 NA 73 687 0 0 0 0 MESP2 145873 broad.mit.edu 37 15 90321331 90321331 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr15:90321331G>A uc002bon.2 + 2 960 c.960G>A c.(958-960)CTG>CTA p.L320L MESP2_uc010uqa.1_Silent_p.L22L NM_001039958 NP_001035047 Q0VG99 MESP2_HUMAN mesoderm posterior 2 homolog 320 Notch signaling pathway nucleus DNA binding 0 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514) GTCTGTCGCTGGGAGCTCCAT 0.592 NA 6 91 0 0 0 0 ZNF710 374655 broad.mit.edu 37 15 90611533 90611533 + Silent SNP C C T rs144375764 TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr15:90611533C>T uc002bov.1 + 2 1287 c.1164C>T c.(1162-1164)TTC>TTT p.F388F NM_198526 NP_940928 Q8N1W2 ZN710_HUMAN zinc finger protein 710 388 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04) BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129) GCCGCGGCTTCGCCTACCCCA 0.642 NA 11 56 0 0 0 0 C15orf58 390637 broad.mit.edu 37 15 90784558 90784558 + Silent SNP C C A rs147221532 by1000genomes TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr15:90784558C>A uc002bpc.2 + 4 597 c.418C>A c.(418-420)CGG>AGG p.R140R NM_001013657 NP_001013679 Q6ZNW5 VTC2_HUMAN hypothetical protein LOC390637 140 glucose metabolic process cytoplasm GDP-D-glucose phosphorylase activity 0 CCGTTTGCACCGGGAGCCTGA 0.602 NA 13 147 3.27e-08 3.5e-08 1 0 IFT140 9742 broad.mit.edu 37 16 1652541 1652541 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:1652541G>A uc002cmb.2 - 4 561 c.199C>T c.(199-201)CTG>TTG p.L67L NM_014714 NP_055529 Q96RY7 IF140_HUMAN intraflagellar transport 140 67 WD 2. ovary(3)|pancreas(1)|skin(1) 5 Hepatocellular(780;0.219) TGCCAGCACAGGGAAGCAACC 0.602 NA 7 80 0 0 0 0 TRAF7 84231 broad.mit.edu 37 16 2226122 2226122 + Missense_Mutation SNP G G T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:2226122G>T uc002cow.2 + 19 1918 c.1819G>T c.(1819-1821)GTC>TTC p.V607F NM_032271 NP_115647 Q6Q0C0 TRAF7_HUMAN TNF receptor-associated factor 7 607 WD 6. activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex identical protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 TGCCCTGGCGGTCATCTCGAC 0.657 NA 5 43 0.00116845 0.00119922 1 0 E4F1 1877 broad.mit.edu 37 16 2283182 2283182 + Nonsense_Mutation SNP G G T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:2283182G>T uc002cpm.2 + 7 1102 c.1054G>T c.(1054-1056)GAG>TAG p.E352* E4F1_uc010bsi.2_Nonsense_Mutation_p.E352*|E4F1_uc010bsj.2_Nonsense_Mutation_p.E352* NM_004424 NP_004415 Q66K89 E4F1_HUMAN p120E4F 352 cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth cytoplasm|nucleoplasm DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1) 1 CCTGGCCCCAGAGGTGGGGGC 0.652 NA 11 133 0.000673444 0.00069413 1 0 C16orf59 80178 broad.mit.edu 37 16 2514053 2514053 + Missense_Mutation SNP G G T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:2514053G>T uc002cqh.2 + 9 1009 c.978G>T c.(976-978)CAG>CAT p.Q326H C16orf59_uc002cqf.1_Missense_Mutation_p.Q326H|C16orf59_uc002cqg.1_Missense_Mutation_p.Q159H|C16orf59_uc002cqi.2_Missense_Mutation_p.Q159H|C16orf59_uc010uwb.1_Intron NM_025108 NP_079384 Q7L2K0 CP059_HUMAN hypothetical protein LOC80178 326 0 Ovarian(90;0.17) TGGCGGAACAGCCACCAAGAC 0.667 NA 7 34 8.13e-05 8.44e-05 1 0 ZG16B 124220 broad.mit.edu 37 16 2880712 2880712 + Nonsense_Mutation SNP G G T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:2880712G>T uc002cru.2 + 3 254 c.178G>T c.(178-180)GGA>TGA p.G60* NM_145252 NP_660295 Q96DA0 ZG16B_HUMAN zymogen granule protein 16 homolog B precursor 60 extracellular region sugar binding ovary(1) 1 TGGCCCTGGAGGAGGCAAGTA 0.532 NA 22 294 5.62e-17 6.2e-17 1 0 PPL 5493 broad.mit.edu 37 16 4945273 4945273 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:4945273C>G uc002cyd.1 - 11 1321 c.1231G>C c.(1231-1233)GAG>CAG p.E411Q NM_002705 NP_002696 O60437 PEPL_HUMAN periplakin 411 Spectrin 2. keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton ovary(4)|central_nervous_system(1)|skin(1) 6 TGCTCCCCCTCAAAGTCACAG 0.502 NA 5 67 0 0 0 0 PPL 5493 broad.mit.edu 37 16 4945622 4945622 + Missense_Mutation SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:4945622C>A uc002cyd.1 - 10 1158 c.1068G>T c.(1066-1068)CAG>CAT p.Q356H NM_002705 NP_002696 O60437 PEPL_HUMAN periplakin 356 Potential.|Spectrin 2. keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton ovary(4)|central_nervous_system(1)|skin(1) 6 GCAGCTCAATCTGGTACCGGT 0.642 NA 18 118 5.35e-07 5.68e-07 1 0 ABCC1 4363 broad.mit.edu 37 16 16103674 16103674 + Silent SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:16103674C>G uc010bvi.2 + 3 442 c.267C>G c.(265-267)CTC>CTG p.L89L ABCC1_uc010bvj.2_Silent_p.L89L|ABCC1_uc010bvk.2_Silent_p.L89L|ABCC1_uc010bvl.2_Silent_p.L89L|ABCC1_uc010bvm.2_Silent_p.L89L|ABCC1_uc002del.3_5'UTR NM_004996 NP_004987 P33527 MRP1_HUMAN ATP-binding cassette, sub-family C, member 1 89 Helical; Name=2. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4) 4 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GGGCAGACCTCTTCTACTCTT 0.552 NA 26 312 0 0 0 0 GTF3C1 2975 broad.mit.edu 37 16 27539953 27539953 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:27539953G>A uc002dov.1 - 6 979 c.939C>T c.(937-939)ATC>ATT p.I313I GTF3C1_uc002dou.2_Silent_p.I313I NM_001520 NP_001511 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 313 transcription factor TFIIIC complex DNA binding|protein binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 ATTCAGGGTGGATCTCTTGCA 0.507 NA 17 206 0 0 0 0 SETD1A 9739 broad.mit.edu 37 16 30974857 30974857 + Silent SNP G G A rs141357385 byFrequency TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:30974857G>A uc002ead.1 + 5 1307 c.621G>A c.(619-621)TCG>TCA p.S207S SETD1A_uc002eae.1_Silent_p.S207S NM_014712 NP_055527 O15047 SET1A_HUMAN SET domain containing 1A 207 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding ovary(2)|skin(1) 3 TCCAAGGCTCGGGTGCAGCCA 0.572 NA 13 81 0 0 0 0 VPS35 55737 broad.mit.edu 37 16 46712964 46712964 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:46712964C>T uc002eef.3 - 6 710 c.611G>A c.(610-612)CGA>CAA p.R204Q VPS35_uc002eed.2_Missense_Mutation_p.R25Q|VPS35_uc002eee.2_Missense_Mutation_p.R165Q NM_018206 NP_060676 Q96QK1 VPS35_HUMAN vacuolar protein sorting 35 204 protein transport|retrograde transport, endosome to Golgi cytosol|endosome|membrane protein binding 0 all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) TTCTCTATCTCGGCTATGTCC 0.433 NA 14 121 0 0 0 0 ZNF423 23090 broad.mit.edu 37 16 49672194 49672194 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:49672194G>A uc002efs.2 - 5 1167 c.869C>T c.(868-870)TCC>TTC p.S290F ZNF423_uc010vgn.1_Missense_Mutation_p.S173F NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 290 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) CGCCTTCTCGGACAGCTGCGG 0.602 NA 5 73 0 0 0 0 PAPD5 64282 broad.mit.edu 37 16 50261849 50261849 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:50261849C>G uc010vgo.1 + 12 1890 c.1855C>G c.(1855-1857)CAG>GAG p.Q619E PAPD5_uc010cbi.2_RNA|PAPD5_uc002efz.2_Missense_Mutation_p.Q363E|PAPD5_uc002ega.2_Missense_Mutation_p.Q410E NM_001040284 NP_001035374 Q8NDF8 PAPD5_HUMAN PAP associated domain containing 5 isoform a 493 Ser-rich. cell division|DNA replication|histone mRNA catabolic process|mitosis cytoplasm|nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding 0 all_cancers(37;0.0452) BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231) GGAGTCCTCTCAGGCAGTTGG 0.488 NA 6 72 0 0 0 0 GPR114 221188 broad.mit.edu 37 16 57597804 57597804 + Silent SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:57597804C>A uc002elx.3 + 5 427 c.342C>A c.(340-342)CCC>CCA p.P114P GPR114_uc010vhr.1_Silent_p.P114P|GPR114_uc002ely.2_Silent_p.P114P NM_153837 NP_722579 Q8IZF4 GP114_HUMAN G protein-coupled receptor 114 precursor 114 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1) 1 TGCAGTTCCCCGCCGAGCTGA 0.622 NA 14 88 4.75e-09 5.13e-09 1 0 CDH8 1006 broad.mit.edu 37 16 62055216 62055216 + Missense_Mutation SNP G G T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:62055216G>T uc002eog.1 - 2 344 c.92C>A c.(91-93)CCG>CAG p.P31Q NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 31 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) CTGATTCATCGGAGCCATGTA 0.458 NA 8 103 5.49e-09 5.91e-09 1 0 CMTM2 146225 broad.mit.edu 37 16 66613547 66613547 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:66613547C>T uc002ept.2 + 1 197 c.37C>T c.(37-39)CCA>TCA p.P13S CMTM2_uc010cdu.2_Missense_Mutation_p.P13S NM_144673 NP_653274 Q8TAZ6 CKLF2_HUMAN chemokine-like factor superfamily 2 13 chemotaxis extracellular space|integral to membrane cytokine activity ovary(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212) CAAGCCAGAGCCAGCACCAGC 0.587 NA 10 99 0 0 0 0 DDX19B 11269 broad.mit.edu 37 16 70367483 70367483 + Nonstop_Mutation SNP T T G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:70367483T>G uc002eyo.2 + 12 1567 c.1438T>G c.(1438-1440)TGA>GGA p.*480G DDX19B_uc010vly.1_Intron|DDX19A_uc002eys.2_Intron|DDX19B_uc010vlv.1_Nonstop_Mutation_p.*454G|DDX19B_uc010vlw.1_Nonstop_Mutation_p.*371G|DDX19B_uc002eyp.2_Nonstop_Mutation_p.*449G|DDX19B_uc002eyq.2_Nonstop_Mutation_p.*371G|DDX19B_uc002eyr.2_Nonstop_Mutation_p.*329G|DDX19B_uc010vlx.1_Nonstop_Mutation_p.*329G|uc002eyt.2_Intron NM_007242 NP_009173 Q9UMR2 DD19B_HUMAN DEAD (Asp-Glu-Ala-As) box polypeptide 19 isoform 480 mRNA export from nucleus|protein transport|transmembrane transport cytoplasm|nuclear membrane|nuclear pore ATP binding|ATP-dependent helicase activity|protein binding|RNA binding kidney(1) 1 Ovarian(137;0.0694) AATAGCCAACTGAGAAGCTCC 0.537 NA 9 92 0 0 0 0 WDR59 79726 broad.mit.edu 37 16 74951881 74951881 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:74951881C>T uc002fdh.1 - 11 1014 c.912G>A c.(910-912)ACG>ACA p.T304T WDR59_uc002fdi.2_Silent_p.T304T|WDR59_uc002fdj.2_Silent_p.T304T|WDR59_uc002fdg.1_5'Flank NM_030581 NP_085058 Q6PJI9 WDR59_HUMAN WD repeat domain 59 304 WD 6. ovary(1)|breast(1) 2 CCCGGGACCACGTCACCAGTT 0.463 NA 12 166 0 0 0 0 CHST6 4166 broad.mit.edu 37 16 75513534 75513534 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:75513534C>G uc002fef.2 - 3 373 c.193G>C c.(193-195)GAC>CAC p.D65H CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Missense_Mutation_p.D65H NM_021615 NP_067628 Q9GZX3 CHST6_HUMAN carbohydrate (N-acetylglucosamine 6-O) 65 Lumenal (Potential). keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process Golgi membrane|integral to membrane N-acetylglucosamine 6-O-sulfotransferase activity 0 TAGAAGACGTCGGGGTGCTGG 0.687 NA 5 40 0 0 0 0 PKD1L2 114780 broad.mit.edu 37 16 81253937 81253937 + Silent SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:81253937C>A uc002fgh.1 - 1 39 c.39G>T c.(37-39)CTG>CTT p.L13L PKD1L2_uc002fgj.2_Silent_p.L13L NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN polycystin 1-like 2 isoform a 13 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 CCCTAAGCCTCAGAGCAAGCA 0.557 NA 9 79 0.000442599 0.000458149 1 0 OSGIN1 29948 broad.mit.edu 37 16 83999318 83999318 + Silent SNP C C T rs149907599 byFrequency TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:83999318C>T uc002fha.2 + 7 1772 c.1389C>T c.(1387-1389)CTC>CTT p.L463L NECAB2_uc002fhd.2_5'Flank|OSGIN1_uc002fhb.2_Silent_p.L380L|OSGIN1_uc002fhc.2_Silent_p.L380L NM_013370 NP_037502 Q9UJX0 OSGI1_HUMAN oxidative stress induced growth inhibitor 1 463 cell differentiation|multicellular organismal development|negative regulation of cell growth growth factor activity 0 TCCAGGACCTCGAGGGTGTCG 0.642 NA 7 104 0 0 0 0 CTU2 348180 broad.mit.edu 37 16 88778042 88778042 + Splice_Site SNP G G T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:88778042G>T uc002flm.2 + 5 331 c.283_splice c.e5-1 p.G95_splice CTU2_uc002fln.2_Splice_Site_p.G95_splice|CTU2_uc010chz.2_Splice_Site_p.G95_splice|CTU2_uc010cia.2_Splice_Site_p.G8_splice NM_001012759 NP_001012777 Q2VPK5 CTU2_HUMAN cytoplasmic tRNA 2-thiolation protein 2 isoform tRNA thio-modification|tRNA wobble uridine modification cytoplasm|protein complex|soluble fraction protein binding skin(1) 1 TCTCCCTCTAGGGCCTGAGCC 0.527 NA 9 97 4.69e-08 5e-08 1 0 CDH15 1013 broad.mit.edu 37 16 89254679 89254679 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:89254679C>T uc002fmt.2 + 7 1041 c.964C>T c.(964-966)CTG>TTG p.L322L NM_004933 NP_004924 P55291 CAD15_HUMAN cadherin 15 preproprotein 322 Cadherin 3.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane calcium ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0261) CGAGGGTGTTCTGTCCATTGT 0.637 NA 5 43 0 0 0 0 RAP1GAP2 23108 broad.mit.edu 37 17 2867170 2867170 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:2867170G>A uc010ckd.2 + 7 390 c.300G>A c.(298-300)CCG>CCA p.P100P RAP1GAP2_uc010cke.2_Silent_p.P85P NM_015085 NP_055900 Q684P5 RPGP2_HUMAN RAP1 GTPase activating protein 2 isoform 1 100 regulation of small GTPase mediated signal transduction centrosome|cytosol|perinuclear region of cytoplasm GTPase activator activity ovary(1) 1 AGGGAGGCCCGTACCCTCAGG 0.672 NA 3 21 0 0 0 0 ACADVL 37 broad.mit.edu 37 17 7127027 7127027 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:7127027C>T uc002gev.2 + 12 1398 c.1247C>T c.(1246-1248)GCC>GTC p.A416V ACADVL_uc010vtp.1_Missense_Mutation_p.A426V|ACADVL_uc002gew.2_Missense_Mutation_p.A394V|ACADVL_uc002gex.2_Missense_Mutation_p.A340V|uc002gey.1_5'Flank|MIR324_hsa-mir-324|MI0000813_5'Flank NM_000018 NP_000009 P49748 ACADV_HUMAN acyl-Coenzyme A dehydrogenase, very long chain 416 Catalytic. energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis mitochondrial inner membrane|mitochondrial nucleoid long-chain-acyl-CoA dehydrogenase activity ovary(3) 3 ATAGAGGCCGCCATCAGCAAA 0.532 NA 15 145 0 0 0 0 NEURL4 84461 broad.mit.edu 37 17 7227188 7227188 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:7227188C>T uc002gga.1 - 12 2213 c.2206G>A c.(2206-2208)GCC>ACC p.A736T NEURL4_uc002ggb.1_Missense_Mutation_p.A736T|NEURL4_uc002ggc.1_Missense_Mutation_p.A82T NM_032442 NP_115818 Q96JN8 NEUL4_HUMAN neuralized homolog 4 isoform 1 736 NHR 4. protein binding upper_aerodigestive_tract(1)|ovary(1) 2 TGGCGGAGGGCGGTGCGGCCC 0.622 NA OREG0024134 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 105 0 0 0 0 DNAH2 146754 broad.mit.edu 37 17 7701100 7701100 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:7701100C>G uc002giu.1 + 52 8197 c.8183C>G c.(8182-8184)TCT>TGT p.S2728C NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 2728 AAA 4 (By similarity).|TPR 2. ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) CTGTCACCCTCTGTCGTGCCC 0.522 NA 18 220 0 0 0 0 MYH2 4620 broad.mit.edu 37 17 10430045 10430045 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:10430045T>C uc010coi.2 - 30 4186 c.4058A>G c.(4057-4059)TAT>TGT p.Y1353C uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.Y1353C|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1353 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 CTCCTCCTCATACTGTTCCCG 0.582 NA 15 175 0 0 0 0 MYH3 4621 broad.mit.edu 37 17 10541713 10541713 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:10541713C>T uc002gmq.1 - 26 3453 c.3376G>A c.(3376-3378)GAG>AAG p.E1126K NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 1126 Potential. 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 GTGGCCCTCTCCGCCTCTATC 0.657 NA 5 66 0 0 0 0 RICH2 9912 broad.mit.edu 37 17 12847469 12847469 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:12847469G>A uc002gnr.3 + 10 1144 c.817G>A c.(817-819)GAG>AAG p.E273K RICH2_uc010vvk.1_Missense_Mutation_p.E273K|RICH2_uc010vvl.1_Missense_Mutation_p.E273K|RICH2_uc002gns.3_Missense_Mutation_p.E73K|RICH2_uc010vvm.1_Missense_Mutation_p.E273K|RICH2_uc010vvn.1_RNA|RICH2_uc002gnt.1_5'UTR NM_014859 NP_055674 Q17R89 RHG44_HUMAN Rho GTPase-activating protein RICH2 273 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity 0 CTTCCCCATCGAGGCGTGTGT 0.642 NA 11 64 0 0 0 0 SMCR7 125170 broad.mit.edu 37 17 18167389 18167389 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:18167389C>T uc002gst.2 + 4 887 c.676C>T c.(676-678)CGC>TGC p.R226C SMCR7_uc002gsu.2_Missense_Mutation_p.A201V|SMCR7_uc010vxq.1_Missense_Mutation_p.R237C NM_139162 NP_631901 Q96C03 SMCR7_HUMAN Smith-Magenis syndrome chromosome region, 226 integral to membrane protein binding 0 all_neural(463;0.228) CTGGGCCGTGCGCAGGACGCA 0.711 NA 3 7 0 0 0 0 SLC13A2 9058 broad.mit.edu 37 17 26820669 26820669 + Missense_Mutation SNP G G T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:26820669G>T uc002hbh.2 + 7 1026 c.959G>T c.(958-960)AGG>ATG p.R320M SLC13A2_uc010wal.1_Missense_Mutation_p.R277M|SLC13A2_uc010wam.1_Missense_Mutation_p.R276M|SLC13A2_uc010wan.1_Missense_Mutation_p.R369M|SLC13A2_uc010wao.1_Missense_Mutation_p.R277M|SLC13A2_uc002hbi.2_Missense_Mutation_p.R249M NM_003984 NP_003975 Q13183 S13A2_HUMAN solute carrier family 13, member 2 isoform b 320 integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity 0 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) ACCGAGCACAGGCTGCTGGGC 0.587 NA 5 78 3.6e-05 3.76e-05 1 0 ATAD5 79915 broad.mit.edu 37 17 29206468 29206468 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:29206468G>A uc002hfs.1 + 18 4386 c.4040G>A c.(4039-4041)GGC>GAC p.G1347D NM_024857 NP_079133 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 1347 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity ovary(3) 3 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) ATGTTTGATGGCTGCTTTGAA 0.294 NA 16 115 0 0 0 0 MRM1 79922 broad.mit.edu 37 17 34964340 34964340 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:34964340G>A uc002hne.2 + 4 990 c.775G>A c.(775-777)GAG>AAG p.E259K MRM1_uc002hnf.2_Missense_Mutation_p.E64K NM_024864 NP_079140 Q6IN84 MRM1_HUMAN mitochondrial rRNA methyltransferase 1 homolog 259 RNA processing mitochondrion RNA binding|RNA methyltransferase activity 0 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) TGCAGGGAATGAGGGCTCAGG 0.617 NA 8 88 0 0 0 0 IKZF3 22806 broad.mit.edu 37 17 37922297 37922297 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:37922297C>T uc002hsu.2 - 8 1338 c.1276G>A c.(1276-1278)GAA>AAA p.E426K IKZF3_uc002htd.2_Missense_Mutation_p.E392K|IKZF3_uc010cwd.2_Missense_Mutation_p.E283K|IKZF3_uc002hsv.2_Missense_Mutation_p.E353K|IKZF3_uc010cwe.2_Missense_Mutation_p.E292K|IKZF3_uc010cwf.2_Missense_Mutation_p.E244K|IKZF3_uc010cwg.2_Missense_Mutation_p.E205K|IKZF3_uc002hsw.2_Missense_Mutation_p.E387K|IKZF3_uc002hsx.2_Missense_Mutation_p.E370K|IKZF3_uc002hsy.2_Missense_Mutation_p.E387K|IKZF3_uc002hsz.2_Missense_Mutation_p.E331K|IKZF3_uc002hta.2_Missense_Mutation_p.E348K|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Missense_Mutation_p.E339K|IKZF3_uc002htc.2_Missense_Mutation_p.E179K|IKZF3_uc010wel.1_Missense_Mutation_p.E179K NM_012481 NP_036613 Q9UKT9 IKZF3_HUMAN aiolos isoform 1 426 B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(2)|kidney(2)|skin(2) 6 Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) TTGAGGAGTTCGTAAGAGCGG 0.552 NA 23 244 0 0 0 0 MLX 6945 broad.mit.edu 37 17 40722105 40722105 + Silent SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:40722105C>A uc002iag.2 + 7 809 c.744C>A c.(742-744)TCC>TCA p.S248S MLX_uc002iaf.2_Silent_p.S194S|MLX_uc002iah.2_Silent_p.S164S NM_170607 NP_733752 Q9UH92 MLX_HUMAN transcription factor-like protein 4 isoform 248 energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process cytoplasm|nucleus DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding 0 all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148) BRCA - Breast invasive adenocarcinoma(366;0.129) TCATGGATTCCCTGTTCCAGT 0.537 NA 10 143 2.53e-12 2.78e-12 1 0 RPRML 388394 broad.mit.edu 37 17 45056080 45056080 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:45056080C>G uc002ilb.2 - 1 535 c.294G>C c.(292-294)ATG>ATC p.M98I GOSR2_uc010wkh.1_Intron NM_203400 NP_981945 Q8N4K4 RPRML_HUMAN reprimo-like 98 integral to membrane 0 GAAAGTTGATCATGCTCTCGG 0.657 NA 5 32 0 0 0 0 OSBPL7 114881 broad.mit.edu 37 17 45888197 45888197 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:45888197G>A uc002ilx.1 - 17 1945 c.1742C>T c.(1741-1743)TCC>TTC p.S581F OSBPL7_uc002ilw.1_Missense_Mutation_p.S143F NM_145798 NP_665741 Q9BZF2 OSBL7_HUMAN oxysterol-binding protein-like protein 7 581 lipid transport lipid binding 0 GGGGTGGTGGGAGACCTTGGT 0.587 NA 4 36 0 0 0 0 SP6 80320 broad.mit.edu 37 17 45924834 45924834 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:45924834C>T uc002img.1 - 2 1294 c.962G>A c.(961-963)CGC>CAC p.R321H SP6_uc002imh.1_Missense_Mutation_p.R321H NM_199262 NP_954871 Q3SY56 SP6_HUMAN Sp6 transcription factor 321 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 CATGAAGACGCGGCTGCAGAC 0.682 NA 5 70 0 0 0 0 FAM117A 81558 broad.mit.edu 37 17 47797166 47797166 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:47797166C>G uc002ipk.2 - 5 733 c.664G>C c.(664-666)GAG>CAG p.E222Q FAM117A_uc010wlz.1_5'UTR NM_030802 NP_110429 Q9C073 F117A_HUMAN family with sequence similarity 117, member A 222 ovary(1) 1 AATACCTCCTCCAGCTCTTGG 0.637 NA 13 188 0 0 0 0 USP32 84669 broad.mit.edu 37 17 58303585 58303585 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:58303585T>C uc002iyo.1 - 13 1533 c.1247A>G c.(1246-1248)AAC>AGC p.N416S USP32_uc002iyn.1_Missense_Mutation_p.N86S NM_032582 NP_115971 Q8NFA0 UBP32_HUMAN ubiquitin specific protease 32 416 DUSP. protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|breast(2)|large_intestine(1) 5 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) TACCACAGGGTTGGCATCCTA 0.368 NA 8 83 0 0 0 0 SMURF2 64750 broad.mit.edu 37 17 62543753 62543753 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:62543753G>A uc002jep.1 - 17 2424 c.2036C>T c.(2035-2037)TCT>TTT p.S679F SMURF2_uc002jeq.1_Missense_Mutation_p.S438F|SMURF2_uc002jer.1_Missense_Mutation_p.S438F NM_022739 NP_073576 Q9HAU4 SMUF2_HUMAN SMAD specific E3 ubiquitin protein ligase 2 679 HECT. BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex identical protein binding|SMAD binding|ubiquitin-protein ligase activity skin(3)|lung(1) 4 Breast(5;1.32e-14) BRCA - Breast invasive adenocarcinoma(8;9.88e-12) AGGCACTCGAGAGGATCCTGT 0.547 NA 7 128 0 0 0 0 SDK2 54549 broad.mit.edu 37 17 71334758 71334758 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:71334758C>T uc010dfm.2 - 45 6487 c.6487G>A c.(6487-6489)GCT>ACT p.A2163T SDK2_uc002jjt.3_Missense_Mutation_p.A1303T NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN sidekick 2 2163 Cytoplasmic (Potential). cell adhesion integral to membrane ovary(2) 2 GCTATGGGAGCCCGGGAGCCT 0.582 NA 8 42 0 0 0 0 ITGB4 3691 broad.mit.edu 37 17 73738804 73738804 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:73738804G>A uc002jpg.2 + 25 3111 c.2924G>A c.(2923-2925)GGC>GAC p.G975D ITGB4_uc002jph.2_Missense_Mutation_p.G975D|ITGB4_uc002jpi.3_Missense_Mutation_p.G975D|ITGB4_uc010dgp.1_3'UTR|ITGB4_uc002jpj.2_Missense_Mutation_p.G975D NM_000213 NP_000204 P16144 ITB4_HUMAN integrin beta 4 isoform 1 precursor 975 Cytoplasmic (Potential). cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity lung(4) 4 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) GCCACCCTCGGCCGCCGCCTG 0.498 NA 5 52 0 0 0 0 TNRC6C 57690 broad.mit.edu 37 17 76046980 76046980 + Missense_Mutation SNP A A G rs71717398 TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:76046980A>G uc002jud.2 + 4 2437 c.1837A>G c.(1837-1839)AAA>GAA p.K613E TNRC6C_uc002juf.2_Missense_Mutation_p.K613E|TNRC6C_uc002jue.2_Missense_Mutation_p.K613E NM_018996 NP_061869 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C isoform 2 613 Sufficient for interaction with argonaute family proteins. gene silencing by RNA|regulation of translation nucleotide binding|RNA binding ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) GGGGGATGGGAAAAAAAATGG 0.522 NA 11 116 0 0 0 0 GAA 2548 broad.mit.edu 37 17 78081373 78081373 + Missense_Mutation SNP C C T rs121907944 TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:78081373C>T uc002jxo.2 + 5 892 c.710C>T c.(709-711)GCG>GTG p.A237V GAA_uc002jxp.2_Missense_Mutation_p.A237V|GAA_uc002jxq.2_Missense_Mutation_p.A237V NM_001079803 NP_001073271 P10253 LYAG_HUMAN acid alpha-glucosidase preproprotein 237 A -> V (in GSD2). cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis lysosomal membrane carbohydrate binding|maltose alpha-glucosidase activity ovary(1) 1 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) Acarbose(DB00284) ACGACGGTGGCGCCCCTGTTC 0.662 NA 24 226 0 0 0 0 LAMA1 284217 broad.mit.edu 37 18 6983142 6983142 + Nonsense_Mutation SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr18:6983142C>A uc002knm.2 - 40 5846 c.5752G>T c.(5752-5754)GAA>TAA p.E1918* LAMA1_uc010wzj.1_Nonsense_Mutation_p.E1394* NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 1918 Domain II and I. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTGGCCAGTTCCTCCGATTCT 0.498 NA 15 106 6.32e-08 6.73e-08 1 0 CEP192 55125 broad.mit.edu 37 18 13095576 13095576 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr18:13095576C>T uc010xac.1 + 35 6409 c.6329C>T c.(6328-6330)TCT>TTT p.S2110F CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.S1635F|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Missense_Mutation_p.S532F|CEP192_uc002krw.2_Missense_Mutation_p.S259F|CEP192_uc002krx.2_Missense_Mutation_p.S114F|CEP192_uc002kry.2_RNA NM_032142 NP_115518 E9PF99 E9PF99_HUMAN centrosomal protein 192kDa 2110 ovary(4)|pancreas(1) 5 CCTCAGGGTTCTCCTCTTCTC 0.507 NA 18 186 0 0 0 0 MIB1 57534 broad.mit.edu 37 18 19418387 19418387 + Missense_Mutation SNP G G T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr18:19418387G>T uc002ktq.2 + 13 1891 c.1891G>T c.(1891-1893)GAT>TAT p.D631Y MIB1_uc002ktp.2_Missense_Mutation_p.D270Y NM_020774 NP_065825 Q86YT6 MIB1_HUMAN mindbomb homolog 1 631 ANK 7. Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding ovary(4) 4 STAD - Stomach adenocarcinoma(5;0.212) GAAGAAAGATGATGGTTATAC 0.348 NA 9 99 1.13e-05 1.18e-05 1 0 NOL4 8715 broad.mit.edu 37 18 31538274 31538274 + Missense_Mutation SNP C C T rs137958344 TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr18:31538274C>T uc010dmi.2 - 7 1394 c.1165G>A c.(1165-1167)GAG>AAG p.E389K NOL4_uc010xbs.1_Missense_Mutation_p.E104K|NOL4_uc002kxr.3_Missense_Mutation_p.E225K|NOL4_uc010xbt.1_Missense_Mutation_p.E315K|NOL4_uc010dmh.2_Missense_Mutation_p.E315K|NOL4_uc010xbu.1_Missense_Mutation_p.E389K|NOL4_uc002kxt.3_Missense_Mutation_p.E389K|NOL4_uc010xbv.1_Missense_Mutation_p.E138K|NOL4_uc010xbw.1_Missense_Mutation_p.E275K NM_003787 NP_003778 O94818 NOL4_HUMAN nucleolar protein 4 389 nucleolus RNA binding ovary(3) 3 TCATGGTCCTCGTGGTCATCT 0.498 NA 29 329 0 0 0 0 GALNT1 2589 broad.mit.edu 37 18 33269223 33269223 + Nonsense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr18:33269223G>A uc010dmu.2 + 7 1000 c.947G>A c.(946-948)TGG>TAG p.W316* GALNT1_uc002kyz.3_Nonsense_Mutation_p.W256*|GALNT1_uc002kzb.2_Nonsense_Mutation_p.W316* NM_020474 NP_065207 Q10472 GALT1_HUMAN polypeptide N-acetylgalactosaminyltransferase 1 316 Lumenal (Potential).|Catalytic subdomain B. protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2) 2 ATGGATATTTGGGGAGGAGAA 0.333 NA 16 143 0 0 0 0 PSTPIP2 9050 broad.mit.edu 37 18 43573663 43573663 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr18:43573663C>G uc002lbp.3 - 10 745 c.649G>C c.(649-651)GAG>CAG p.E217Q PSTPIP2_uc002lbq.3_Missense_Mutation_p.E217Q NM_024430 NP_077748 Q9H939 PPIP2_HUMAN proline-serine-threonine phosphatase interacting 217 membrane ovary(1) 1 TCTTGAGCCTCAAATGCCTAC 0.398 NA 9 54 0 0 0 0 WDR7 23335 broad.mit.edu 37 18 54448880 54448880 + Silent SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr18:54448880C>A uc002lgk.1 + 19 3394 c.3183C>A c.(3181-3183)GTC>GTA p.V1061V WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Silent_p.V1028V NM_015285 NP_056100 Q9Y4E6 WDR7_HUMAN rabconnectin-3 beta isoform 1 1061 ovary(2)|skin(1) 3 Lung(128;0.0238)|Colorectal(16;0.0296) TAGACCACGTCATATCACGTA 0.453 NA 8 124 0.00307968 0.0031421 1 0 NARS 4677 broad.mit.edu 37 18 55274847 55274847 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr18:55274847C>T uc002lgs.2 - 8 858 c.630G>A c.(628-630)TTG>TTA p.L210L NARS_uc002lgt.2_Silent_p.L209L|NARS_uc010xea.1_Intron|NARS_uc010xeb.1_RNA|NARS_uc010xec.1_Silent_p.L210L|NARS_uc010xed.1_Silent_p.L177L NM_004539 NP_004530 O43776 SYNC_HUMAN asparaginyl-tRNA synthetase 210 asparaginyl-tRNA aminoacylation cytosol|soluble fraction asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding 0 Colorectal(73;0.227) L-Asparagine(DB00174) CAGCAGGGGCCAACCCAATTA 0.478 NA 8 64 0 0 0 0 SOCS6 9306 broad.mit.edu 37 18 67993105 67993105 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr18:67993105G>A uc002lkr.1 + 2 1517 c.1201G>A c.(1201-1203)GTG>ATG p.V401M SOCS6_uc010dqq.2_Missense_Mutation_p.V401M NM_004232 NP_004223 O14544 SOCS6_HUMAN suppressor of cytokine signaling 6 401 SH2. defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth cytoplasm large_intestine(1)|lung(1) 2 Esophageal squamous(42;0.129)|Colorectal(73;0.152) GCTAGCAAACGTGCCAGATGG 0.473 NA 15 137 0 0 0 0 NFATC1 4772 broad.mit.edu 37 18 77170881 77170881 + Silent SNP G G A rs146509068 TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr18:77170881G>A uc010xfg.1 + 2 1059 c.606G>A c.(604-606)ACG>ACA p.T202T NFATC1_uc002lnc.1_Silent_p.T202T|NFATC1_uc010xff.1_Silent_p.T202T|NFATC1_uc002lnd.2_Silent_p.T202T|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Silent_p.T202T|NFATC1_uc010xfi.1_Silent_p.T189T|NFATC1_uc010xfj.1_Intron|NFATC1_uc002lnf.2_Silent_p.T189T|NFATC1_uc002lng.2_Silent_p.T189T|NFATC1_uc010xfk.1_Silent_p.T189T NM_006162 NP_006153 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytosolic 202 Trans-activation domain A (TAD-A). intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding large_intestine(1)|ovary(1) 2 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) CCCCCCAGACGTCGCCATGGC 0.697 NA 16 168 0 0 0 0 KCNG2 26251 broad.mit.edu 37 18 77624217 77624217 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr18:77624217G>A uc010xfl.1 + 1 550 c.550G>A c.(550-552)GTG>ATG p.V184M NM_012283 NP_036415 Q9UJ96 KCNG2_HUMAN potassium voltage-gated channel, subfamily G, 184 Helical; Name=Segment S1; (Potential). energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity 0 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) CTGCGTGTCCGTGTCCTTCGT 0.458 NA 3 20 0 0 0 0 THEG 51298 broad.mit.edu 37 19 375832 375832 + Missense_Mutation SNP G G A rs151319374 TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:375832G>A uc002lol.2 - 1 178 c.139C>T c.(139-141)CGC>TGC p.R47C THEG_uc002lom.2_Missense_Mutation_p.R47C NM_016585 NP_057669 Q9P2T0 THEG_HUMAN Theg homolog isoform 1 47 cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis nucleus protein binding ovary(1) 1 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGGTCCTGGCGTTCGGGGTCT 0.677 NA 13 105 0 0 0 0 C19orf10 56005 broad.mit.edu 37 19 4660713 4660713 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:4660713G>A uc002may.2 - 4 406 c.337C>T c.(337-339)CGG>TGG p.R113W NM_019107 NP_061980 Q969H8 CS010_HUMAN hypothetical protein LOC56005 precursor 113 ER-Golgi intermediate compartment|extracellular region 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.015) TCAGCGCCCCGCACCTCTGCC 0.627 NA 8 103 0 0 0 0 C3 718 broad.mit.edu 37 19 6713251 6713251 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:6713251C>T uc002mfm.2 - 9 1014 c.952G>A c.(952-954)GAC>AAC p.D318N NM_000064 NP_000055 P01024 CO3_HUMAN complement component 3 precursor 318 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding skin(3)|ovary(1)|pancreas(1) 5 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) CCCACCAGGTCTTCTGCTCGG 0.617 NA 6 70 0 0 0 0 FBN3 84467 broad.mit.edu 37 19 8181655 8181655 + Silent SNP G G A rs138173924 by1000genomes TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:8181655G>A uc002mjf.2 - 28 3636 c.3615C>T c.(3613-3615)CGC>CGT p.R1205R NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 1205 EGF-like 17. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 GGTCACAAACGCGGGGGTTCT 0.592 NA 12 118 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 8974003 8974003 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:8974003T>C uc002mkp.2 - 76 42872 c.42668A>G c.(42667-42669)TAC>TGC p.Y14223C MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.Y1023C|MUC16_uc010xki.1_Intron NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CAGGGTGATGTACTCTGAGGA 0.517 NA 2 8 0 0 0 0 ZNF266 10781 broad.mit.edu 37 19 9524481 9524481 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:9524481G>C uc002mll.2 - 4 1386 c.1120C>G c.(1120-1122)CAC>GAC p.H374D ZNF266_uc002mlm.2_Missense_Mutation_p.H374D|ZNF266_uc002mln.2_Missense_Mutation_p.H374D|ZNF266_uc002mlo.2_Missense_Mutation_p.H374D|ZNF266_uc010dwp.2_Missense_Mutation_p.H374D|ZNF266_uc010dwq.2_Missense_Mutation_p.H374D NM_198058 NP_932175 Q14584 ZN266_HUMAN zinc finger protein 266 374 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TCTCCACTGTGAGTTCGTGCA 0.448 NA 13 153 0 0 0 0 DNM2 1785 broad.mit.edu 37 19 10893656 10893656 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:10893656C>T uc002mps.1 + 6 873 c.709C>T c.(709-711)CGC>TGC p.R237C DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Missense_Mutation_p.R237C|DNM2_uc002mpv.1_Missense_Mutation_p.R237C|DNM2_uc002mpu.1_Missense_Mutation_p.R237C|DNM2_uc010dxl.1_Missense_Mutation_p.R237C|DNM2_uc002mpw.2_5'UTR NM_001005361 NP_001005361 P50570 DYN2_HUMAN dynamin 2 isoform 2 237 G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding central_nervous_system(2)|skin(2)|ovary(1)|breast(1) 6 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) CGTGGTGAACCGCAGCCAGAA 0.597 NA 9 94 0 0 0 0 CARM1 10498 broad.mit.edu 37 19 11030598 11030598 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:11030598C>T uc002mpz.2 + 10 1278 c.1152C>T c.(1150-1152)GTC>GTT p.V384V CARM1_uc010dxn.2_RNA|CARM1_uc002mqa.2_Silent_p.V167V NM_199141 NP_954592 Q86X55 CARM1_HUMAN coactivator-associated arginine 384 cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleoplasm beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding 0 CAGGGCTGGTCCACGGCCTGG 0.592 NA 4 53 0 0 0 0 ZNF439 90594 broad.mit.edu 37 19 11978597 11978597 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:11978597G>C uc002mss.2 + 3 841 c.713G>C c.(712-714)GGA>GCA p.G238A ZNF439_uc002msr.2_Missense_Mutation_p.G102A NM_152262 NP_689475 Q8NDP4 ZN439_HUMAN zinc finger protein 439 238 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 ACTCACACTGGAGAGAAACCG 0.368 NA 15 187 0 0 0 0 MAST1 22983 broad.mit.edu 37 19 12978714 12978714 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:12978714C>T uc002mvm.2 + 20 2617 c.2489C>T c.(2488-2490)GCG>GTG p.A830V NM_014975 NP_055790 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 830 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(3)|lung(2)|large_intestine(1)|skin(1) 7 TCCGACCCCGCGGGATCCCTG 0.711 NA 6 48 0 0 0 0 BRD4 23476 broad.mit.edu 37 19 15374334 15374334 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:15374334C>T uc002nar.2 - 7 1460 c.1238G>A c.(1237-1239)CGT>CAT p.R413H BRD4_uc002nas.2_Missense_Mutation_p.R413H|BRD4_uc002nat.3_Missense_Mutation_p.R413H|BRD4_uc002nau.3_Missense_Mutation_p.R413H NM_058243 NP_490597 O60885 BRD4_HUMAN bromodomain-containing protein 4 isoform long 413 Bromo 2. interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) CTGAGCATCACGGTACTCACG 0.537 NA T NUT|C15orf55 lethal midline carcinoma of young people 8 70 0 0 0 0 PDCD2L 84306 broad.mit.edu 37 19 34912527 34912527 + Nonsense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:34912527C>T uc002nvj.2 + 6 934 c.901C>T c.(901-903)CAG>TAG p.Q301* NM_032346 NP_115722 Q9BRP1 PDD2L_HUMAN programmed cell death 2-like 301 cytoplasm ovary(1) 1 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) ATTTGAGTTTCAGCTTATGCC 0.453 NA 28 283 0 0 0 0 TMEM147 10430 broad.mit.edu 37 19 36037660 36037660 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:36037660G>C uc002oaj.1 + 4 391 c.294G>C c.(292-294)AAG>AAC p.K98N uc010eec.1_5'Flank|uc002oag.2_5'Flank|TMEM147_uc002oai.1_Missense_Mutation_p.K49N|TMEM147_uc002oak.1_Missense_Mutation_p.R8T NM_032635 NP_116024 Q9BVK8 TM147_HUMAN transmembrane protein 147 98 endoplasmic reticulum membrane|integral to membrane protein binding 0 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) GAGAGTACAAGATCATGGTTG 0.582 NA 6 105 0 0 0 0 PSENEN 55851 broad.mit.edu 37 19 36237739 36237739 + Silent SNP C C T rs148274462 TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:36237739C>T uc002obi.1 + 4 501 c.297C>T c.(295-297)GGC>GGT p.G99G TMEM149_uc010eej.2_5'Flank|U2AF1L4_uc002obh.1_5'Flank|U2AF1L4_uc002obe.2_5'Flank|U2AF1L4_uc002obf.2_5'Flank|U2AF1L4_uc002obg.2_5'Flank|PSENEN_uc002obj.1_Silent_p.G99G|PSENEN_uc002obk.1_Intron|LIN37_uc002obm.2_5'Flank NM_172341 NP_758844 Q9NZ42 PEN2_HUMAN presenilin enhancer 2 99 Lumenal (Potential). amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|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|protein processing endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane aspartic-type endopeptidase activity|protein binding ovary(2) 2 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TACCCCTGGGCACCCCCTGAC 0.592 NA 16 82 0 0 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38591746 38591746 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:38591746G>A uc002ohk.2 + 6 2418 c.1909G>A c.(1909-1911)GAG>AAG p.E637K NM_015073 NP_055888 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 637 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(1)|central_nervous_system(1) 2 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CCAGAGCTCCGAGGAGGAGAT 0.607 NA 5 37 0 0 0 0 KCNK6 9424 broad.mit.edu 37 19 38817967 38817967 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:38817967T>C uc002oic.2 + 3 976 c.866T>C c.(865-867)ATC>ACC p.I289T KCNK6_uc002oid.2_Missense_Mutation_p.I155T NM_004823 NP_004814 Q9Y257 KCNK6_HUMAN potassium channel, subfamily K, member 6 289 Cytoplasmic (Potential). voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(1) 1 all_cancers(60;5.83e-07) Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613) Ibutilide(DB00308)|Quinidine(DB00908) CGGGTGGACATCCTGGGCCCC 0.662 NA 12 105 0 0 0 0 PLEKHG2 64857 broad.mit.edu 37 19 39911453 39911453 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:39911453C>G uc010xuz.1 + 13 1685 c.1360C>G c.(1360-1362)CGA>GGA p.R454G PLEKHG2_uc010xuy.1_Missense_Mutation_p.R395G|PLEKHG2_uc002olj.2_Missense_Mutation_p.R454G|PLEKHG2_uc010xva.1_Missense_Mutation_p.R261G NM_022835 NP_073746 Q9H7P9 PKHG2_HUMAN common-site lymphoma/leukemia guanine nucleotide 454 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) TCCTCGACCTCGAGATGCTAG 0.582 NA 23 204 0 0 0 0 PRX 57716 broad.mit.edu 37 19 40901949 40901949 + Missense_Mutation SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:40901949C>A uc002onr.2 - 7 2579 c.2310G>T c.(2308-2310)AAG>AAT p.K770N PRX_uc002onq.2_Missense_Mutation_p.K631N|PRX_uc002ons.2_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN periaxin isoform 2 770 55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER]. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding ovary(2) 2 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) CCTCTGGTGCCTTCGGAAGAT 0.592 NA 54 239 1.04e-30 1.16e-30 1 0 CEACAM1 634 broad.mit.edu 37 19 43025447 43025447 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:43025447C>G uc002otv.2 - 4 1043 c.930G>C c.(928-930)AGG>AGC p.R310S uc010eif.1_Intron|uc002ott.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron|CEACAM1_uc010eii.2_RNA|CEACAM1_uc002otw.2_Missense_Mutation_p.R310S|CEACAM1_uc010eij.2_Missense_Mutation_p.R310S|CEACAM1_uc002otx.2_Missense_Mutation_p.R310S|CEACAM1_uc002oty.2_Missense_Mutation_p.R310S|CEACAM1_uc002otz.2_Missense_Mutation_p.R310S|CEACAM1_uc010eik.2_Intron|CEACAM1_uc002oua.2_Missense_Mutation_p.R310S|CEACAM1_uc002oub.2_Missense_Mutation_p.R310S|CEACAM1_uc002ouc.2_Missense_Mutation_p.R310S NM_001712 NP_001703 P13688 CEAM1_HUMAN carcinoembryonic antigen-related cell adhesion 310 Ig-like C2-type 2.|Extracellular (Potential). angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway extracellular region|integral to plasma membrane|membrane fraction ovary(1)|central_nervous_system(1) 2 Prostate(69;0.00682) GBM - Glioblastoma multiforme(486;0.00148) Arcitumomab(DB00113) TGACTGTGGTCCTGTTGCAGC 0.448 NA 13 238 0 0 0 0 PSG6 5675 broad.mit.edu 37 19 43585208 43585208 + Silent SNP G G A rs148293206 by1000genomes TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:43585208G>A uc002ovi.2 - 2 348 c.255C>T c.(253-255)GAC>GAT p.D85D PSG6_uc010xwk.1_Intron|PSG2_uc002ovr.2_Silent_p.D85D|PSG2_uc002ovq.3_Silent_p.D85D|PSG2_uc010eiq.1_Silent_p.D85D|PSG2_uc002ovs.3_Silent_p.D85D|PSG2_uc002ovt.3_Silent_p.D85D Q00889 PSG6_HUMAN SubName: Full=Putative uncharacterized protein PSG6; 85 Ig-like V-type. female pregnancy extracellular region ovary(1)|skin(1) 2 Prostate(69;0.00899) TTATTTGACCGTCTACTACAT 0.443 NA 29 532 0 0 0 0 IRGQ 126298 broad.mit.edu 37 19 44099016 44099016 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:44099016C>T uc002oww.2 - 1 593 c.475G>A c.(475-477)GAG>AAG p.E159K IRGQ_uc010eiv.2_Missense_Mutation_p.E159K|ZNF576_uc002owy.2_5'Flank|ZNF576_uc002owz.2_5'Flank|SRRM5_uc002oxb.2_5'Flank NM_001007561 NP_001007562 Q8WZA9 IRGQ_HUMAN immunity-related GTPase family, Q 159 Potential. protein binding ovary(1)|pancreas(1) 2 Prostate(69;0.0199) TCTAGCTCCTCGCAGCCGTCG 0.667 NA 7 33 0 0 0 0 ZFP112 7771 broad.mit.edu 37 19 44832114 44832114 + Silent SNP A A G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:44832114A>G uc010ejj.2 - 5 2327 c.2214T>C c.(2212-2214)GGT>GGC p.G738G ZFP112_uc002ozc.3_Silent_p.G732G|ZFP112_uc010xwy.1_Silent_p.G755G|ZFP112_uc010xwz.1_Silent_p.G737G NM_001083335 NP_001076804 Q9UJU3 ZF112_HUMAN zinc finger protein 228 isoform 1 738 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2) 5 CTCTCTGATGACCTTGAAGAT 0.458 NA 23 450 0 0 0 0 PVR 5817 broad.mit.edu 37 19 45153219 45153219 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:45153219C>T uc002ozm.2 + 3 865 c.566C>T c.(565-567)ACG>ATG p.T189M PVR_uc010ejs.2_Missense_Mutation_p.T189M|PVR_uc010xxb.1_Missense_Mutation_p.T189M|PVR_uc010xxc.1_Missense_Mutation_p.T189M|PVR_uc002ozn.2_Missense_Mutation_p.T134M NM_006505 NP_006496 P15151 PVR_HUMAN poliovirus receptor isoform alpha 189 Extracellular (Potential).|Ig-like C2-type 1. adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus cell adhesion molecule binding|receptor activity 0 Lung NSC(12;0.00608)|all_lung(12;0.0148) Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112) Epithelial(262;0.000601) ATGCCCAATACGAGCCAGGTG 0.632 NA 18 86 0 0 0 0 STRN4 29888 broad.mit.edu 37 19 47231911 47231911 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:47231911G>A uc002pfl.2 - 7 1036 c.1003C>T c.(1003-1005)CGG>TGG p.R335W STRN4_uc002pfm.2_Missense_Mutation_p.R335W|STRN4_uc010xyf.1_RNA|STRN4_uc010xyg.1_RNA NM_013403 NP_037535 Q9NRL3 STRN4_HUMAN zinedin isoform 1 335 cytoplasm|membrane armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding 0 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035) GTGCACCGCCGAGGGTCTGGA 0.612 NA 10 68 0 0 0 0 GYS1 2997 broad.mit.edu 37 19 49473096 49473096 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:49473096C>T uc002plp.2 - 15 2067 c.1826G>A c.(1825-1827)CGC>CAC p.R609H GYS1_uc010xzy.1_Missense_Mutation_p.R242H|GYS1_uc010emm.2_Missense_Mutation_p.R545H|GYS1_uc010xzz.1_Missense_Mutation_p.R529H NM_002103 NP_002094 P13807 GYS1_HUMAN glycogen synthase 1 (muscle) isoform 1 609 glucose metabolic process|glycogen biosynthetic process cytosol glycogen (starch) synthase activity|protein binding ovary(2) 2 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286) CGCCATGTGGCGCGCAGACAT 0.612 NA 10 110 0 0 0 0 FCGRT 2217 broad.mit.edu 37 19 50017242 50017242 + Silent SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:50017242G>C uc002poe.2 + 3 663 c.177G>C c.(175-177)CTG>CTC p.L59L FCGRT_uc002pod.2_RNA|FCGRT_uc002pog.2_Silent_p.L59L|FCGRT_uc002pof.1_5'UTR|FCGRT_uc010yax.1_Silent_p.L59L|FCGRT_uc002poh.1_5'Flank NM_001136019 NP_001129491 P55899 FCGRN_HUMAN Fc fragment of IgG, receptor, transporter, alpha 59 Extracellular (Potential).|Alpha-1. antigen processing and presentation|female pregnancy|immune response integral to membrane|MHC class I protein complex IgG binding|receptor activity ovary(1) 1 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156) AGCAGTACCTGAGCTACAATA 0.642 NA 30 167 0 0 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50462016 50462016 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:50462016G>A uc010ybh.1 - 7 1338 c.1247C>T c.(1246-1248)TCA>TTA p.S416L SIGLEC11_uc010ybi.1_Missense_Mutation_p.S416L NM_052884 NP_443116 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 isoform 1 416 Ig-like C2-type 3.|Extracellular (Potential). cell adhesion integral to membrane sugar binding ovary(3)|central_nervous_system(2)|pancreas(1) 6 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) CCCGGGGTCTGAGGGCTGGGA 0.677 NA 28 140 0 0 0 0 SIGLEC10 89790 broad.mit.edu 37 19 51917032 51917032 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:51917032C>T uc002pwo.2 - 10 2371 c.1755G>A c.(1753-1755)AGG>AGA p.R585R SIGLEC10_uc002pwp.2_Silent_p.R527R|SIGLEC10_uc002pwq.2_Silent_p.R432R|SIGLEC10_uc002pwr.2_Silent_p.R490R|SIGLEC10_uc010ycy.1_Silent_p.R400R|SIGLEC10_uc010ycz.1_Silent_p.R442R|SIGLEC10_uc010eow.2_Silent_p.R302R|SIGLEC10_uc002pws.1_Silent_p.R326R NM_033130 NP_149121 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 precursor 585 Cytoplasmic (Potential). cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding skin(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) AGAACCTGGGCCTCGGGGTTT 0.537 NA 16 212 0 0 0 0 ZNF880 400713 broad.mit.edu 37 19 52887776 52887776 + Nonsense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:52887776C>T uc002pzc.2 + 4 992 c.943C>T c.(943-945)CAG>TAG p.Q315* NM_001145434 NP_001138906 Q6PDB4 ZN880_HUMAN zinc finger protein LOC400713 315 C2H2-type 5. regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 TGCACGACATCAGAAAATTCA 0.423 NA 7 59 0 0 0 0 ZNF468 90333 broad.mit.edu 37 19 53344521 53344521 + Silent SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:53344521C>A uc002qaf.2 - 4 1177 c.1026G>T c.(1024-1026)CTG>CTT p.L342L ZNF468_uc002qae.2_Silent_p.L289L NM_001008801 NP_001008801 Q5VIY5 ZN468_HUMAN zinc finger protein ZNF468 isoform 2 342 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(134;0.0358) TATGTTTTGCCAGATATGAAT 0.383 NA 23 260 1.5e-11 1.64e-11 1 0 LAIR2 3904 broad.mit.edu 37 19 55014149 55014149 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:55014149C>T uc002qgc.2 + 1 137 c.15C>T c.(13-15)CTC>CTT p.L5L LAIR2_uc002qga.1_Intron|LAIR2_uc002qgb.1_Intron|LAIR2_uc002qgd.2_Silent_p.L5L|LAIR2_uc010erl.2_Silent_p.L5L NM_002288 NP_002279 Q6ISS4 LAIR2_HUMAN leukocyte-associated immunoglobulin-like 5 extracellular region receptor activity ovary(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0967) CTCCACACCTCACTGCTCTCC 0.627 NA 12 133 0 0 0 0 LILRA2 11027 broad.mit.edu 37 19 55086049 55086049 + Nonsense_Mutation SNP G G T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:55086049G>T uc002qgg.3 + 3 441 c.352G>T c.(352-354)GGA>TGA p.G118* LILRA2_uc010ern.2_Nonsense_Mutation_p.G118*|LILRA2_uc002qgf.2_Nonsense_Mutation_p.G118*|LILRA2_uc010yfe.1_Nonsense_Mutation_p.G118*|LILRA2_uc010yff.1_Nonsense_Mutation_p.G106*|LILRA2_uc010ero.2_Nonsense_Mutation_p.G106*|LILRA2_uc010yfg.1_Nonsense_Mutation_p.G118* NM_001130917 NP_001124389 Q8N149 LIRA2_HUMAN leukocyte immunoglobulin-like receptor, 118 Extracellular (Potential).|Ig-like C2-type 2. defense response integral to membrane antigen binding|receptor activity ovary(1) 1 GBM - Glioblastoma multiforme(193;0.0963) GGTGGTGACAGGTGAGAGGAC 0.607 NA 19 88 2.94e-08 3.16e-08 1 0 NLRP5 126206 broad.mit.edu 37 19 56569758 56569758 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:56569758C>G uc002qmj.2 + 14 3452 c.3452C>G c.(3451-3453)TCT>TGT p.S1151C NLRP5_uc002qmi.2_Missense_Mutation_p.S1132C NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 1151 mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TGTCCCACGTCTAACTTACAG 0.483 NA 7 56 0 0 0 0 ZNF543 125919 broad.mit.edu 37 19 57839434 57839434 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:57839434G>A uc002qoi.1 + 4 949 c.604G>A c.(604-606)GAG>AAG p.E202K NM_213598 NP_998763 Q08ER8 ZN543_HUMAN zinc finger protein 543 202 C2H2-type 1. 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) CTATAAATGTGAGGAATGCGG 0.413 NA 12 153 0 0 0 0 ZNF416 55659 broad.mit.edu 37 19 58083744 58083744 + Missense_Mutation SNP C C T rs147696919 TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:58083744C>T uc002qpf.2 - 4 1699 c.1528G>A c.(1528-1530)GTT>ATT p.V510I ZNF547_uc002qpm.3_Intron NM_017879 NP_060349 Q9BWM5 ZN416_HUMAN zinc finger protein 416 510 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259) TGGTGTTCAACGAGGGTATAG 0.428 NA 9 171 0 0 0 0 ZBTB45 84878 broad.mit.edu 37 19 59028991 59028991 + Missense_Mutation SNP C C T rs117819245 by1000genomes TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:59028991C>T uc002qtd.2 - 2 342 c.50G>A c.(49-51)CGC>CAC p.R17H ZBTB45_uc002qte.2_Missense_Mutation_p.R17H|ZBTB45_uc002qtf.2_Missense_Mutation_p.R17H NM_032792 NP_116181 Q96K62 ZBT45_HUMAN zinc finger and BTB domain containing 45 17 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18) AAGCAGAGAGCGTGAGAAGTT 0.592 NA OREG0025700 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 58 0 0 0 0 ADI1 55256 broad.mit.edu 37 2 3504681 3504681 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:3504681C>T uc002qxp.3 - 3 416 c.324G>A c.(322-324)AGG>AGA p.R108R ADI1_uc010yiq.1_RNA NM_018269 NP_060739 Q9BV57 MTND_HUMAN acireductone dioxygenase 1 108 R -> G (in Ref. 5; BAD96187). L-methionine salvage from methylthioadenosine cytoplasm|nucleus|plasma membrane acireductone dioxygenase (Ni2+-requiring) activity|metal ion binding|protein binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228) CCTCCTTGTCCCTCACATCGA 0.542 NA 8 68 0 0 0 0 COLEC11 78989 broad.mit.edu 37 2 3691322 3691322 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:3691322G>A uc002qya.2 + 7 578 c.430G>A c.(430-432)GCC>ACC p.A144T COLEC11_uc002qxz.2_Missense_Mutation_p.A141T|COLEC11_uc002qyb.2_Missense_Mutation_p.A120T|COLEC11_uc002qyc.2_Missense_Mutation_p.A120T|COLEC11_uc010ewo.2_Missense_Mutation_p.A96T|COLEC11_uc010ewp.2_Missense_Mutation_p.A118T|COLEC11_uc010ewq.2_Missense_Mutation_p.A94T|COLEC11_uc010ewr.2_Missense_Mutation_p.A94T|COLEC11_uc010ews.2_Missense_Mutation_p.A70T NM_024027 NP_076932 Q9BWP8 COL11_HUMAN collectin sub-family member 11 isoform a 144 Potential. collagen mannose binding 0 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.127) CACAGCTGTCGCCGGTGTGCG 0.637 NA 15 127 0 0 0 0 WDR35 57539 broad.mit.edu 37 2 20138032 20138032 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:20138032C>T uc002rdi.2 - 19 2198 c.2090G>A c.(2089-2091)CGA>CAA p.R697Q WDR35_uc002rdj.2_Missense_Mutation_p.R686Q|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_Missense_Mutation_p.R262Q|WDR35_uc002rdk.3_Missense_Mutation_p.R262Q NM_001006657 NP_001006658 Q9P2L0 WDR35_HUMAN WD repeat domain 35 isoform 1 697 ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATACCAAAGTCGGGGGTGTGG 0.443 NA 14 166 0 0 0 0 ITSN2 50618 broad.mit.edu 37 2 24443816 24443816 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:24443816C>T uc002rfe.2 - 30 3955 c.3697G>A c.(3697-3699)GAG>AAG p.E1233K ITSN2_uc002rff.2_Missense_Mutation_p.E1206K|ITSN2_uc002rfg.2_Missense_Mutation_p.E1233K NM_006277 NP_006268 Q9NZM3 ITSN2_HUMAN intersectin 2 isoform 1 1233 DH. endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity kidney(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTCCTCACCTCGACGACGAGC 0.552 NA 32 223 0 0 0 0 NCOA1 8648 broad.mit.edu 37 2 24952396 24952396 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:24952396G>C uc002rfk.2 + 15 3171 c.2913G>C c.(2911-2913)GAG>GAC p.E971D NCOA1_uc010eye.2_Missense_Mutation_p.E971D|NCOA1_uc002rfi.2_Missense_Mutation_p.E820D|NCOA1_uc002rfj.2_Missense_Mutation_p.E971D|NCOA1_uc002rfl.2_Missense_Mutation_p.E971D NM_003743 NP_003734 Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 isoform 1 971 Interaction with CREBBP. PAX3/NCOA1(8) soft_tissue(8)|ovary(1)|lung(1)|skin(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TATTATCAGAGAGATTTCCAC 0.403 NA T PAX3 alveolar rhadomyosarcoma 23 188 0 0 0 0 IFT172 26160 broad.mit.edu 37 2 27684340 27684340 + Nonsense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:27684340C>T uc002rku.2 - 22 2289 c.2238G>A c.(2236-2238)TGG>TGA p.W746* NM_015662 NP_056477 Q9UG01 IF172_HUMAN selective LIM binding factor homolog 746 cilium assembly cilium binding large_intestine(1)|ovary(1) 2 Acute lymphoblastic leukemia(172;0.155) TGTCCATCAGCCACTGGTAGT 0.582 NA 12 195 0 0 0 0 FAM82A1 151393 broad.mit.edu 37 2 38202364 38202364 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:38202364G>A uc002rql.2 + 4 760 c.637G>A c.(637-639)GAA>AAA p.E213K FAM82A1_uc002rqn.1_Missense_Mutation_p.E391K|FAM82A1_uc002rqk.1_Missense_Mutation_p.E68K|FAM82A1_uc002rqm.2_Missense_Mutation_p.E68K NM_144713 NP_653314 Q96LZ7 RMD2_HUMAN family with sequence similarity 82, member A1 213 cytoplasm|integral to membrane|microtubule|spindle pole binding ovary(1) 1 GTTTAGAGATGAAATAGAGTT 0.318 NA 7 88 0 0 0 0 TMEM178 130733 broad.mit.edu 37 2 39934249 39934249 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:39934249G>A uc002rrt.2 + 3 600 c.575G>A c.(574-576)TGC>TAC p.C192Y TMEM178_uc010fam.1_Intron NM_152390 NP_689603 Q8NBL3 TM178_HUMAN transmembrane protein 178 precursor 192 Helical; (Potential). integral to membrane 0 all_hematologic(82;0.248) CTCTGCGGCTGCATTGTGGCC 0.527 NA 5 49 0 0 0 0 NRXN1 9378 broad.mit.edu 37 2 50149190 50149190 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:50149190G>A uc010fbp.2 - 6 2028 c.1221C>T c.(1219-1221)ATC>ATT p.I407I NRXN1_uc002rxb.3_Silent_p.I1141I|NRXN1_uc010fbq.2_Silent_p.I1512I|NRXN1_uc002rxe.3_Silent_p.I1442I|NRXN1_uc010yon.1_Silent_p.I107I|NRXN1_uc002rxa.3_Silent_p.I104I NM_138735 NP_620072 P58400 NRX1B_HUMAN neurexin 1 isoform beta precursor 407 Cytoplasmic (Potential). 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) CTGAGTTACTGATGTAGTTTC 0.463 NA 13 137 0 0 0 0 NRXN1 9378 broad.mit.edu 37 2 50280582 50280582 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:50280582C>T uc010fbp.2 - 4 1567 c.760G>A c.(760-762)GCC>ACC p.A254T NRXN1_uc002rxb.3_Missense_Mutation_p.A991T|NRXN1_uc010fbq.2_Missense_Mutation_p.A1359T|NRXN1_uc002rxe.3_Missense_Mutation_p.A1289T NM_138735 NP_620072 P58400 NRX1B_HUMAN neurexin 1 isoform beta precursor 254 Extracellular (Potential).|Laminin G-like. 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) CCCACTATGGCGATGTTGGCA 0.507 NA 13 142 0 0 0 0 CHAC2 494143 broad.mit.edu 37 2 53995077 53995077 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:53995077G>C uc002rxk.1 + 1 149 c.54G>C c.(52-54)CAG>CAC p.Q18H ASB3_uc002rxg.1_Intron|ASB3_uc002rxh.1_Intron|ASB3_uc002rxi.3_Intron|ASB3_uc010yoo.1_Intron NM_001008708 NP_001008708 Q8WUX2 CHAC2_HUMAN ChaC, cation transport regulator-like 2 18 0 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) TCCCCTATCAGGACAAGCTGG 0.627 NA OREG0014616 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 40 0 0 0 0 SPTBN1 6711 broad.mit.edu 37 2 54856884 54856884 + Nonsense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:54856884G>A uc002rxu.2 + 14 2862 c.2613G>A c.(2611-2613)TGG>TGA p.W871* SPTBN1_uc002rxv.1_Nonsense_Mutation_p.W871*|SPTBN1_uc002rxx.2_Nonsense_Mutation_p.W858* NM_003128 NP_003119 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 isoform 1 871 Spectrin 6. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton ovary(3)|breast(2)|central_nervous_system(2)|skin(1) 8 Lung(47;0.24) AGGAGCAGTGGCTCAACAACA 0.602 NA 6 78 0 0 0 0 VAX2 25806 broad.mit.edu 37 2 71148327 71148327 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:71148327G>A uc002shh.2 + 2 379 c.347G>A c.(346-348)CGC>CAC p.R116H NM_012476 NP_036608 Q9UIW0 VAX2_HUMAN ventral anterior homeobox 2 116 Homeobox. ectoderm development|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CAGCTGTACCGCCTGGAGATG 0.622 NA 9 68 0 0 0 0 RTKN 6242 broad.mit.edu 37 2 74653396 74653396 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:74653396G>A uc002sle.2 - 12 1783 c.1666C>T c.(1666-1668)CGC>TGC p.R556C RTKN_uc002slc.2_Missense_Mutation_p.R543C|RTKN_uc002sld.2_Missense_Mutation_p.R506C NM_001015055 NP_001015055 Q9BST9 RTKN_HUMAN rhotekin isoform a 556 apoptosis|regulation of anti-apoptosis|Rho protein signal transduction intracellular GTP binding|GTP-Rho binding|GTPase inhibitor activity skin(1) 1 AGCCAAGTGCGAGGTTGGCCT 0.622 NA 34 320 0 0 0 0 LBX2 85474 broad.mit.edu 37 2 74725408 74725408 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:74725408G>A uc002slv.3 - 2 248 c.243C>T c.(241-243)TTC>TTT p.F81F LBX2_uc002slw.2_Silent_p.F77F NM_001009812 NP_001009812 Q6XYB7 LBX2_HUMAN ladybird homeobox 2 81 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GTTTGCGGCCGAAGGGACCAG 0.667 NA 6 14 0 0 0 0 AUP1 550 broad.mit.edu 37 2 74756406 74756406 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:74756406G>A uc010yry.1 - 3 410 c.192C>T c.(190-192)TTC>TTT p.F64F DQX1_uc010yrw.1_5'Flank|AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_Silent_p.F64F|AUP1_uc002smg.2_RNA|AUP1_uc002smh.2_5'UTR|AUP1_uc010yrx.1_Silent_p.F121F|HTRA2_uc002smi.1_5'Flank|HTRA2_uc002smj.1_5'Flank|HTRA2_uc002smk.1_5'Flank|HTRA2_uc002sml.1_5'Flank|HTRA2_uc002smm.1_5'Flank|HTRA2_uc002smn.1_5'Flank|HTRA2_uc010ffl.2_5'Flank Q9Y679 AUP1_HUMAN SubName: Full=cDNA FLJ58836, highly similar to Ancient ubiquitous protein 1; 64 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane|nucleus protein binding 0 TCCGCACTACGAATCTGGGGA 0.637 NA 5 58 0 0 0 0 HTRA2 27429 broad.mit.edu 37 2 74758074 74758074 + Missense_Mutation SNP G G A rs142306682 TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:74758074G>A uc002smi.1 + 3 1350 c.748G>A c.(748-750)GAT>AAT p.D250N AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_5'Flank|AUP1_uc002smg.2_5'Flank|AUP1_uc002smh.2_5'Flank|AUP1_uc010yrx.1_5'Flank|AUP1_uc010yry.1_5'Flank|HTRA2_uc002smj.1_Intron|HTRA2_uc002smk.1_Missense_Mutation_p.D250N|HTRA2_uc002sml.1_Missense_Mutation_p.D250N|HTRA2_uc002smm.1_5'UTR|HTRA2_uc002smn.1_5'UTR|HTRA2_uc010ffl.2_5'UTR NM_013247 NP_037379 O43464 HTRA2_HUMAN HtrA serine peptidase 2 isoform 1 preproprotein 250 Serine protease. apoptosis|proteolysis|response to stress CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus serine-type endopeptidase activity|unfolded protein binding ovary(1) 1 ACGCTCAGCTGATGTCCGGCA 0.552 NA 35 486 0 0 0 0 CTNNA2 1496 broad.mit.edu 37 2 80136879 80136879 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:80136879G>A uc010ysh.1 + 6 1017 c.1012G>A c.(1012-1014)GTG>ATG p.V338M CTNNA2_uc010yse.1_Missense_Mutation_p.V338M|CTNNA2_uc010ysf.1_Missense_Mutation_p.V338M|CTNNA2_uc010ysg.1_Missense_Mutation_p.V338M NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 338 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 GTGCAACGCCGTGCGGCAGGC 0.597 NA 11 92 0 0 0 0 TGFBRAP1 9392 broad.mit.edu 37 2 105889405 105889405 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:105889405C>T uc002tcq.2 - 10 1963 c.1879G>A c.(1879-1881)GCC>ACC p.A627T TGFBRAP1_uc010fjc.2_Missense_Mutation_p.A396T|TGFBRAP1_uc002tcr.3_Missense_Mutation_p.A627T NM_004257 NP_004248 Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor 627 regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|skin(1) 2 TTGCCACTGGCGGAGGCCCTC 0.577 NA 12 71 0 0 0 0 GCC2 9648 broad.mit.edu 37 2 109111839 109111839 + Missense_Mutation SNP G G C rs148279219 TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:109111839G>C uc002tec.2 + 20 4694 c.4540G>C c.(4540-4542)GAG>CAG p.E1514Q GCC2_uc002ted.2_Missense_Mutation_p.E1413Q NM_181453 NP_852118 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain-containing 2 1514 Potential. Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding ovary(1) 1 AACCCGGGAAGAGGGAGAAGG 0.483 NA 8 77 0 0 0 0 RANBP2 5903 broad.mit.edu 37 2 109383191 109383191 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:109383191G>A uc002tem.3 + 20 6322 c.6196G>A c.(6196-6198)GAG>AAG p.E2066K NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 2066 RanBD1 2. carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 TCTCAAAAACGAGGTCAATGG 0.398 NA 68 639 0 0 0 0 UGGT1 56886 broad.mit.edu 37 2 128935448 128935448 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:128935448G>C uc002tps.2 + 33 3845 c.3667G>C c.(3667-3669)GAT>CAT p.D1223H UGGT1_uc002tpr.2_Missense_Mutation_p.D1199H NM_020120 NP_064505 Q9NYU2 UGGG1_HUMAN UDP-glucose ceramide glucosyltransferase-like 1 1223 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding ovary(1) 1 CTTGCTGAGTGATGGAACGAG 0.388 NA 16 173 0 0 0 0 ARHGEF4 50649 broad.mit.edu 37 2 131803638 131803638 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:131803638G>A uc002tsa.1 + 14 2469 c.1949G>A c.(1948-1950)CGC>CAC p.R650H ARHGEF4_uc010fmw.1_Missense_Mutation_p.R798H|ARHGEF4_uc002tsb.1_3'UTR|ARHGEF4_uc010fmx.1_Missense_Mutation_p.R590H|ARHGEF4_uc002tsc.1_Missense_Mutation_p.R193H NM_015320 NP_056135 Q9NR80 ARHG4_HUMAN Rho guanine nucleotide exchange factor 4 isoform 650 apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|ruffle membrane protein domain specific binding|Rac guanyl-nucleotide exchange factor activity breast(3)|ovary(2)|skin(1) 6 Prostate(154;0.055) BRCA - Breast invasive adenocarcinoma(221;0.097) TACCTGACGCGCCAGAAGCAC 0.667 NA 17 186 0 0 0 0 YSK4 80122 broad.mit.edu 37 2 135745629 135745629 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:135745629C>T uc002tue.1 - 7 844 c.813G>A c.(811-813)TCG>TCA p.S271S YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Silent_p.S158S|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_5'UTR|YSK4_uc002tui.3_Silent_p.S288S NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Yeast Sps1/Ste20-related kinase 4 isoform 1 271 ATP binding|protein serine/threonine kinase activity stomach(2)|urinary_tract(1)|ovary(1)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(221;0.112) GATCCATCAACGACTTAACTA 0.483 NA 23 151 0 0 0 0 LRP1B 53353 broad.mit.edu 37 2 141625775 141625775 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:141625775C>T uc002tvj.1 - 26 5199 c.4227G>A c.(4225-4227)ATG>ATA p.M1409I LRP1B_uc010fnl.1_Missense_Mutation_p.M591I NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1409 Extracellular (Potential).|LDL-receptor class B 11. 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) CAGCACCACTCATAGAGGCAG 0.368 NA TSP Lung(27;0.18) 10 116 0 0 0 0 KYNU 8942 broad.mit.edu 37 2 143676239 143676239 + Silent SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:143676239C>A uc002tvl.2 + 3 361 c.231C>A c.(229-231)GGC>GGA p.G77G KYNU_uc002tvk.2_Silent_p.G77G|KYNU_uc010fnm.2_Silent_p.G77G NM_003937 NP_003928 Q16719 KYNU_HUMAN kynureninase (L-kynurenine hydrolase) isoform a 77 anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity skin(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) ATTCTCTTGGCCTTCAACCAA 0.279 NA 9 57 1.13e-05 1.18e-05 1 0 SCN3A 6328 broad.mit.edu 37 2 166032878 166032878 + Silent SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:166032878T>C uc002ucx.2 - 3 519 c.27A>G c.(25-27)CCA>CCG p.P9P SCN3A_uc002ucy.2_Silent_p.P9P|SCN3A_uc002ucz.2_Silent_p.P9P NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 9 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) TTTCAGGTCCTGGGGGTACCA 0.423 NA 13 175 0 0 0 0 FASTKD1 79675 broad.mit.edu 37 2 170428478 170428478 + Missense_Mutation SNP A A C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:170428478A>C uc002uev.3 - 2 450 c.62T>G c.(61-63)ATT>AGT p.I21S FASTKD1_uc002uew.3_RNA|FASTKD1_uc002uex.3_Missense_Mutation_p.I7S|FASTKD1_uc002uey.2_Missense_Mutation_p.I7S NM_024622 NP_078898 Q53R41 FAKD1_HUMAN FAST kinase domains 1 21 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity ovary(4) 4 GAATGGACAAATAGCTCTTAG 0.358 NA 14 91 0 0 0 0 PHOSPHO2 493911 broad.mit.edu 37 2 170558169 170558169 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:170558169G>C uc002ufg.2 + 4 1076 c.688G>C c.(688-690)GAT>CAT p.D230H KLHL23_uc002ufh.1_Intron NM_001008489 NP_001008489 Q8TCD6 PHOP2_HUMAN phosphatase, orphan 2 230 metal ion binding|pyridoxal phosphatase activity skin(1) 1 CTCAGGTGTTGATATAATTTC 0.264 NA 16 106 0 0 0 0 ITGA4 3676 broad.mit.edu 37 2 182350666 182350666 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:182350666G>A uc002unu.2 + 10 1863 c.1100G>A c.(1099-1101)AGA>AAA p.R367K ITGA4_uc010zfl.1_Missense_Mutation_p.R367K NM_000885 NP_000876 P13612 ITA4_HUMAN integrin alpha 4 precursor 367 FG-GAP 6.|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) TATGCTGCAAGATTTGGGGAA 0.363 NA 16 140 0 0 0 0 CASP8 841 broad.mit.edu 37 2 202141631 202141631 + Missense_Mutation SNP C C T rs17860424 TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:202141631C>T uc002uxr.1 + 8 951 c.742C>T c.(742-744)CGG>TGG p.R248W CASP8_uc002uxo.1_Missense_Mutation_p.T226M|CASP8_uc002uxp.1_Missense_Mutation_p.R265W|CASP8_uc002uxq.1_Missense_Mutation_p.R233W|CASP8_uc002uxt.1_Missense_Mutation_p.R307W|CASP8_uc002uxu.1_RNA|CASP8_uc002uxv.1_Missense_Mutation_p.R233W|CASP8_uc002uxw.1_Missense_Mutation_p.R233W|CASP8_uc002uxy.1_Missense_Mutation_p.R248W|CASP8_uc002uxx.1_Missense_Mutation_p.R233W|CASP8_uc010ftf.2_Intron|CASP8_uc010fte.1_Missense_Mutation_p.T108M NM_033355 NP_203519 Q14790 CASP8_HUMAN caspase 8 isoform B precursor 248 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding|protein binding upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1) 5 TGCAAAAGCACGGGAGAAAGT 0.373 NA HNSCC(4;0.00038) 17 94 0 0 0 0 STRADB 55437 broad.mit.edu 37 2 202342454 202342454 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:202342454G>C uc002uyd.3 + 8 1026 c.661G>C c.(661-663)GAT>CAT p.D221H NM_018571 NP_061041 Q9C0K7 STRAB_HUMAN STE20-related kinase adaptor beta 221 Protein kinase. activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation cytosol|nucleus ATP binding|protein binding|protein kinase activity skin(2)|stomach(1)|lung(1) 4 GGCTGTGTATGATTTCCCACA 0.522 NA 28 208 0 0 0 0 MAP2 4133 broad.mit.edu 37 2 210574652 210574652 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:210574652C>T uc002vde.1 + 12 4995 c.4747C>T c.(4747-4749)CGC>TGC p.R1583C MAP2_uc002vdd.1_Missense_Mutation_p.R284C|MAP2_uc002vdf.1_Missense_Mutation_p.R227C|MAP2_uc002vdg.1_Missense_Mutation_p.R227C|MAP2_uc002vdh.1_Missense_Mutation_p.R284C|MAP2_uc002vdi.1_Missense_Mutation_p.R1579C NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 1583 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) AGAGCCAATTCGCAGAGCAGG 0.498 NA 14 116 0 0 0 0 CUL3 8452 broad.mit.edu 37 2 225365164 225365164 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:225365164G>A uc002vny.2 - 11 1910 c.1526C>T c.(1525-1527)ACG>ATG p.T509M CUL3_uc010zls.1_Missense_Mutation_p.T443M|CUL3_uc010fwy.1_Missense_Mutation_p.T515M|CUL3_uc002vnz.1_Translation_Start_Site NM_003590 NP_003581 Q13618 CUL3_HUMAN cullin 3 509 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1) 4 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) ATATCCTGTCGTGAGCACCCG 0.423 NA 11 194 0 0 0 0 DOCK10 55619 broad.mit.edu 37 2 225668859 225668859 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:225668859G>A uc010fwz.1 - 39 4477 c.4238C>T c.(4237-4239)TCC>TTC p.S1413F DOCK10_uc002vob.2_Missense_Mutation_p.S1407F|DOCK10_uc002voa.2_Missense_Mutation_p.S69F|DOCK10_uc002voc.2_Missense_Mutation_p.S267F NM_014689 NP_055504 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1413 GTP binding ovary(2) 2 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) TGTCTGGCAGGAAGGATTGGA 0.373 NA 5 66 0 0 0 0 SPHKAP 80309 broad.mit.edu 37 2 228881385 228881385 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:228881385G>A uc002vpq.2 - 7 4232 c.4185C>T c.(4183-4185)AAC>AAT p.N1395N SPHKAP_uc002vpp.2_Silent_p.N1395N|SPHKAP_uc010zlx.1_Silent_p.N1395N NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 1395 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) AAGGGCTGTGGTTTGTAAGAG 0.463 NA 23 188 0 0 0 0 SPHKAP 80309 broad.mit.edu 37 2 228883163 228883163 + Missense_Mutation SNP C C A rs146520315 byFrequency TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:228883163C>A uc002vpq.2 - 7 2454 c.2407G>T c.(2407-2409)GGC>TGC p.G803C SPHKAP_uc002vpp.2_Missense_Mutation_p.G803C|SPHKAP_uc010zlx.1_Missense_Mutation_p.G803C NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 803 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TTGAAGAGGCCTGGCCTCACT 0.463 NA 109 779 4.37e-48 4.85e-48 1 0 PRR21 643905 broad.mit.edu 37 2 240981426 240981426 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:240981426G>C uc010zod.1 - 1 974 c.974C>G c.(973-975)TCT>TGT p.S325C NM_001080835 NP_001074304 Q8WXC7 PRR21_HUMAN proline rich 21 325 ovary(1)|skin(1) 2 CGTGGATGAAGAGGCATGGAC 0.597 NA 35 227 0 0 0 0 SLC4A11 83959 broad.mit.edu 37 20 3214613 3214613 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr20:3214613C>T uc002wig.2 - 5 655 c.607G>A c.(607-609)GCC>ACC p.A203T SLC4A11_uc010zqe.1_Missense_Mutation_p.A230T|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.A187T NM_032034 NP_114423 Q8NBS3 S4A11_HUMAN solute carrier family 4 member 11 203 Cytoplasmic (Potential). cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity ovary(1) 1 GTCACTGTGGCGGTGACCCCT 0.647 NA 18 129 0 0 0 0 SLC23A2 9962 broad.mit.edu 37 20 4843461 4843461 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr20:4843461C>T uc002wlg.1 - 14 1824 c.1449G>A c.(1447-1449)CCG>CCA p.P483P SLC23A2_uc010zqr.1_Silent_p.P368P|SLC23A2_uc002wlh.1_Silent_p.P483P NM_005116 NP_005107 Q9UGH3 S23A2_HUMAN solute carrier family 23 (nucleobase 483 L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport apical plasma membrane|integral to plasma membrane|membrane fraction nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity ovary(2) 2 GCACAGGATCCGGAAGGGACG 0.557 NA 11 88 0 0 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20493692 20493692 + Nonsense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr20:20493692G>A uc002wrz.2 - 32 4464 c.4321C>T c.(4321-4323)CAG>TAG p.Q1441* RALGAPA2_uc010gcx.2_Nonsense_Mutation_p.Q1145*|RALGAPA2_uc010zsg.1_Nonsense_Mutation_p.Q889*|RALGAPA2_uc002wsa.1_Nonsense_Mutation_p.Q213* NM_020343 NP_065076 Q2PPJ7 RGPA2_HUMAN akt substrate AS250 1441 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(1) 1 GTGGGTGTCTGAAGGTAGGAG 0.507 NA 5 38 0 0 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20493763 20493763 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr20:20493763G>A uc002wrz.2 - 32 4393 c.4250C>T c.(4249-4251)TCC>TTC p.S1417F RALGAPA2_uc010gcx.2_Missense_Mutation_p.S1121F|RALGAPA2_uc010zsg.1_Missense_Mutation_p.S865F|RALGAPA2_uc002wsa.1_Missense_Mutation_p.S189F NM_020343 NP_065076 Q2PPJ7 RGPA2_HUMAN akt substrate AS250 1417 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(1) 1 CACCTCAAAGGACAGCTCGGA 0.552 NA 4 48 0 0 0 0 EPB41L1 2036 broad.mit.edu 37 20 34809829 34809829 + Missense_Mutation SNP T T A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr20:34809829T>A uc002xfb.2 + 20 2654 c.2483T>A c.(2482-2484)ATC>AAC p.I828N EPB41L1_uc002xeu.2_Missense_Mutation_p.I726N|EPB41L1_uc002xev.2_Missense_Mutation_p.I827N|EPB41L1_uc002xew.2_Missense_Mutation_p.I719N|EPB41L1_uc002xex.2_Missense_Mutation_p.I648N|EPB41L1_uc002xey.2_Missense_Mutation_p.I578N|EPB41L1_uc002xez.2_Missense_Mutation_p.I726N|EPB41L1_uc010gfq.2_Missense_Mutation_p.I926N NM_012156 NP_036288 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 828 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity ovary(2)|pancreas(1) 3 Breast(12;0.0239) GAGAAGCGAATCATCATTACT 0.542 NA 11 70 0 0 0 0 DHX35 60625 broad.mit.edu 37 20 37634810 37634810 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr20:37634810G>A uc002xjh.2 + 12 1044 c.1033G>A c.(1033-1035)GCA>ACA p.A345T DHX35_uc010zwa.1_Missense_Mutation_p.A190T|DHX35_uc010zwb.1_Missense_Mutation_p.A190T|DHX35_uc010zwc.1_Missense_Mutation_p.A314T NM_021931 NP_068750 Q9H5Z1 DHX35_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 35 345 Helicase C-terminal. catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|nucleic acid binding lung(1)|kidney(1)|skin(1) 3 Myeloproliferative disorder(115;0.00878) CACCAATGTGGCAGAAACCTC 0.408 NA 30 663 0 0 0 0 MAFB 9935 broad.mit.edu 37 20 39316607 39316607 + Missense_Mutation SNP T T G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr20:39316607T>G uc002xji.2 - 1 1270 c.884A>C c.(883-885)AAG>ACG p.K295T NM_005461 NP_005452 Q9Y5Q3 MAFB_HUMAN transcription factor MAFB 295 negative regulation of erythrocyte differentiation sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding 0 Myeloproliferative disorder(115;0.00878) GCACTTGACCTTGTAGGCGTC 0.597 NA T IGH@ MM 9 145 0 0 0 0 PI3 5266 broad.mit.edu 37 20 43804666 43804666 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr20:43804666C>T uc002xng.2 + 2 268 c.244C>T c.(244-246)CGG>TGG p.R82W NM_002638 NP_002629 P19957 ELAF_HUMAN elafin preproprotein 82 WAP. copulation proteinaceous extracellular matrix serine-type endopeptidase inhibitor activity 0 Myeloproliferative disorder(115;0.0122) TATCTTGATCCGGTGCGCCAT 0.507 NA 9 102 0 0 0 0 SEMG2 6407 broad.mit.edu 37 20 43851591 43851591 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr20:43851591G>C uc010ggz.2 + 2 1375 c.1318G>C c.(1318-1320)GAG>CAG p.E440Q SEMG2_uc002xnk.2_Missense_Mutation_p.E440Q|SEMG2_uc002xnl.2_Intron NM_003008 NP_002999 Q02383 SEMG2_HUMAN semenogelin II precursor 440 Repeat-rich region.|4 X 60 AA tandem repeats, type I. sexual reproduction extracellular space|stored secretory granule structural molecule activity skin(1) 1 Myeloproliferative disorder(115;0.0122) CCAAACTGAAGAGAAAATACA 0.378 NA 8 91 0 0 0 0 WFDC3 140686 broad.mit.edu 37 20 44404233 44404233 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr20:44404233C>T uc002xpf.1 - 6 586 c.502G>A c.(502-504)GGT>AGT p.G168S WFDC3_uc002xpj.1_RNA|WFDC3_uc002xph.1_RNA|WFDC3_uc010ghh.1_RNA NM_080614 NP_542181 Q8IUB2 WFDC3_HUMAN WAP four-disulfide core domain 3 precursor 168 WAP 4. extracellular region serine-type endopeptidase inhibitor activity 0 Myeloproliferative disorder(115;0.0122) GGACAATCACCGCCCCGCCCT 0.532 NA 6 99 0 0 0 0 PREX1 57580 broad.mit.edu 37 20 47324916 47324916 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr20:47324916G>A uc002xtw.1 - 6 688 c.665C>T c.(664-666)GCG>GTG p.A222V NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 222 DH. actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(3)|ovary(2)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) ACTCTGGACCGCGGGGTGGTC 0.582 NA 35 391 0 0 0 0 TMEM189-UBE2V1 387522 broad.mit.edu 37 20 48744600 48744600 + Silent SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr20:48744600G>C uc002xvf.2 - 5 764 c.603C>G c.(601-603)CTC>CTG p.L201L TMEM189_uc010zyq.1_RNA|TMEM189_uc002xvg.2_Silent_p.L201L|TMEM189_uc010gif.2_Silent_p.L198L|TMEM189_uc010zyp.1_Silent_p.L126L NM_199203 NP_954673 Q13404 UB2V1_HUMAN TMEM189-UBE2V1 readthrough transcript Error:Variant_position_missing_in_Q13404_after_alignment cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein K63-linked ubiquitination|regulation of DNA repair|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleus|UBC13-UEV1A complex|ubiquitin ligase complex acid-amino acid ligase activity|protein binding 0 BRCA - Breast invasive adenocarcinoma(9;8.29e-07) AGTCCTGCAGGAGGGTGACCC 0.587 NA 12 52 0 0 0 0 ZNF217 7764 broad.mit.edu 37 20 52188284 52188284 + Nonstop_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr20:52188284C>G uc002xwq.3 - 4 3417 c.3146G>C c.(3145-3147)TGA>TCA p.*1049S NM_006526 NP_006517 O75362 ZN217_HUMAN zinc finger protein 217 1049 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1) 6 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) ATTAGTGAATCAAGTTTTTTT 0.328 NA 12 149 0 0 0 0 CDH26 60437 broad.mit.edu 37 20 58587630 58587630 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr20:58587630C>T uc002ybe.2 + 18 2644 c.2344C>T c.(2344-2346)CAC>TAC p.H782Y CDH26_uc002ybf.1_Intron|CDH26_uc010zzy.1_RNA|CDH26_uc002ybg.2_Missense_Mutation_p.H273Y|CDH26_uc002ybh.2_Missense_Mutation_p.H115Y|CDH26_uc002ybi.2_Missense_Mutation_p.H74Y NM_177980 NP_817089 Q8IXH8 CAD26_HUMAN cadherin-like 26 isoform a Error:Variant_position_missing_in_Q8IXH8_after_alignment homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|central_nervous_system(1) 4 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) CTACCTACCTCACGTCTACAG 0.552 NA 19 180 0 0 0 0 CDH4 1002 broad.mit.edu 37 20 60508054 60508054 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr20:60508054C>T uc002ybn.1 + 14 2265 c.2251C>T c.(2251-2253)CTG>TTG p.L751L CDH4_uc002ybp.1_Silent_p.L677L NM_001794 NP_001785 P55283 CADH4_HUMAN cadherin 4, type 1 preproprotein 751 Helical; (Potential). adherens junction organization|cell junction assembly calcium ion binding lung(3)|ovary(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) CATGGTCCTGCTGTTTGTCAT 0.592 NA 4 44 0 0 0 0 DIDO1 11083 broad.mit.edu 37 20 61511065 61511065 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr20:61511065C>G uc002ydr.1 - 16 6507 c.6243G>C c.(6241-6243)CAG>CAC p.Q2081H DIDO1_uc002yds.1_Missense_Mutation_p.Q2081H NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 2081 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) CTTCGAAAGTCTGGTTTCTGT 0.677 NA 31 403 0 0 0 0 KRTAP10-6 386674 broad.mit.edu 37 21 46011396 46011396 + Missense_Mutation SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr21:46011396C>A uc002zfm.2 - 1 991 c.970G>T c.(970-972)GGT>TGT p.G324C C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198688 NP_941961 P60371 KR106_HUMAN keratin associated protein 10-6 324 29 X 5 AA repeats of C-C-X(3). keratin filament 0 GCAGAGGCACCACAGGAGGGG 0.692 NA 13 110 4.37e-10 4.74e-10 1 0 MCM3AP 8888 broad.mit.edu 37 21 47666772 47666772 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr21:47666772G>A uc002zir.1 - 21 4355 c.4319C>T c.(4318-4320)GCC>GTC p.A1440V MCM3APAS_uc002zim.2_Intron|MCM3APAS_uc002zin.2_Intron|MCM3AP_uc002zio.1_5'UTR|MCM3AP_uc002zip.1_Missense_Mutation_p.A181V|MCM3AP_uc002ziq.1_Missense_Mutation_p.A367V|MCM3APAS_uc002zis.1_Intron NM_003906 NP_003897 O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 1440 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding large_intestine(2)|lung(1)|ovary(1)|skin(1) 5 Breast(49;0.112) AGCATCAATGGCACCATCACT 0.577 NA 16 197 0 0 0 0 ZNF74 7625 broad.mit.edu 37 22 20761221 20761221 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr22:20761221G>A uc010gsm.2 + 6 2110 c.1898G>A c.(1897-1899)GGC>GAC p.G633D ZNF74_uc002zsg.2_Missense_Mutation_p.G562D|ZNF74_uc002zsh.2_Missense_Mutation_p.G633D|ZNF74_uc002zsi.2_Missense_Mutation_p.G562D|ZNF74_uc010gsn.2_Missense_Mutation_p.G562D NM_003426 NP_003417 Q16587 ZNF74_HUMAN zinc finger protein 74 633 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|nucleus DNA binding|RNA binding|zinc ion binding ovary(1) 1 Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262)|all_lung(157;0.248) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) CCCAGAGCTGGCAGGAATTTC 0.458 NA 8 59 0 0 0 0 CACNA1I 8911 broad.mit.edu 37 22 40075794 40075794 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr22:40075794T>C uc003ayc.2 + 33 5462 c.5462T>C c.(5461-5463)ATC>ACC p.I1821T CACNA1I_uc003ayd.2_Missense_Mutation_p.I1786T|CACNA1I_uc003aye.2_Missense_Mutation_p.I1736T|CACNA1I_uc003ayf.2_Missense_Mutation_p.I1701T NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, 1821 Cytoplasmic (Potential). axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(1)|central_nervous_system(1) 2 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) CTGACCATCATCGACAACCTG 0.617 NA 3 23 0 0 0 0 MEI1 150365 broad.mit.edu 37 22 42154484 42154484 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr22:42154484G>A uc003baz.1 + 18 2092 c.2067G>A c.(2065-2067)CAG>CAA p.Q689Q WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|MEI1_uc011apd.1_RNA|MEI1_uc003bbb.1_Silent_p.Q57Q|MEI1_uc003bbc.1_Silent_p.Q57Q|MEI1_uc010gym.1_Silent_p.Q57Q|MEI1_uc003bbd.1_5'UTR NM_152513 NP_689726 Q5TIA1 MEI1_HUMAN meiosis defective 1 689 binding central_nervous_system(1)|skin(1) 2 CTGCTCGCCAGAGACAGTACT 0.582 NA 6 44 0 0 0 0 EFCAB6 64800 broad.mit.edu 37 22 43985982 43985982 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr22:43985982C>T uc003bdy.1 - 24 3219 c.3004G>A c.(3004-3006)GAA>AAA p.E1002K EFCAB6_uc003bdz.1_Missense_Mutation_p.E850K|EFCAB6_uc010gzi.1_Missense_Mutation_p.E850K|EFCAB6_uc010gzj.1_Missense_Mutation_p.E228K NM_022785 NP_073622 Q5THR3 EFCB6_HUMAN CAP-binding protein complex interacting protein 1002 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 7 Ovarian(80;0.0247)|all_neural(38;0.025) AGCTCCCCTTCGGTAAGAGAA 0.408 NA 22 193 0 0 0 0 SELO 83642 broad.mit.edu 37 22 50647025 50647025 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr22:50647025C>T uc011arr.1 + 3 877 c.819C>T c.(817-819)AGC>AGT p.S273S SELO_uc010hap.2_Silent_p.S84S|SELO_uc003bjy.2_5'UTR|SELO_uc003bjz.2_5'Flank NM_031454 NP_113642 Q9BVL4 SELO_HUMAN selenoprotein O 273 0 all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.105) CAGGCCCCAGCGTGGGGAGGA 0.567 NA 14 158 0 0 0 0 SELO 83642 broad.mit.edu 37 22 50654267 50654267 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr22:50654267G>A uc011arr.1 + 6 1531 c.1473G>A c.(1471-1473)AGG>AGA p.R491R SELO_uc010hap.2_Silent_p.R302R|SELO_uc003bjy.2_Silent_p.R171R|SELO_uc003bjz.2_Missense_Mutation_p.A244T NM_031454 NP_113642 Q9BVL4 SELO_HUMAN selenoprotein O 491 0 all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.105) AGGAGCTGAGGCTGGCCTTCC 0.572 NA 10 124 0 0 0 0 EDEM1 9695 broad.mit.edu 37 3 5249942 5249942 + Silent SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:5249942C>G uc003bqi.2 + 8 1635 c.1503C>G c.(1501-1503)CTC>CTG p.L501L EDEM1_uc011asz.1_Silent_p.L279L|EDEM1_uc003bqh.2_Silent_p.L501L NM_014674 NP_055489 Q92611 EDEM1_HUMAN ER degradation enhancer, mannosidase alpha-like 501 Lumenal (Potential). ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein integral to endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding ovary(2)|breast(1) 3 Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682) CATATCTCCTCTACCAGGTAC 0.463 NA 7 140 0 0 0 0 C3orf24 115795 broad.mit.edu 37 3 10146171 10146171 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:10146171G>A uc003buz.2 - 2 513 c.288C>T c.(286-288)CTC>CTT p.L96L C3orf24_uc003bva.1_Silent_p.L96L NM_173472 NP_775743 Q96PS1 CC024_HUMAN hypothetical protein LOC115795 96 0 OV - Ovarian serous cystadenocarcinoma(96;0.196) CTACTCCACTGAGGCGGATGG 0.517 NA 14 129 0 0 0 0 HRH1 3269 broad.mit.edu 37 3 11302128 11302128 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:11302128C>T uc010hdr.2 + 2 1747 c.1405C>T c.(1405-1407)CCC>TCC p.P469S HRH1_uc010hds.2_Missense_Mutation_p.P469S|HRH1_uc010hdt.2_Missense_Mutation_p.P469S|HRH1_uc003bwb.3_Missense_Mutation_p.P469S NM_001098213 NP_001091683 P35367 HRH1_HUMAN histamine receptor H1 469 Helical; Name=7; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response cytoplasm|integral to plasma membrane|nucleus histamine receptor activity large_intestine(1)|ovary(1) 2 Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246) CCTCATCTACCCCTTGTGCAA 0.458 NA 29 294 0 0 0 0 STT3B 201595 broad.mit.edu 37 3 31665334 31665334 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:31665334G>A uc011axe.1 + 11 1708 c.1708G>A c.(1708-1710)GCC>ACC p.A570T NM_178862 NP_849193 Q8TCJ2 STT3B_HUMAN source of immunodominant MHC-associated 570 protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding 0 TGTAGTCCTGGCCTCATACAA 0.373 NA 14 117 0 0 0 0 ZNF860 344787 broad.mit.edu 37 3 32030595 32030595 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:32030595G>C uc011axg.1 + 2 573 c.24G>C c.(22-24)CAG>CAC p.Q8H NM_001137674 NP_001131146 A6NHJ4 ZN860_HUMAN zinc finger protein 860 8 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 AAGCAGCTCAGAAGAGGAAAG 0.448 NA 10 104 0 0 0 0 TMPPE 643853 broad.mit.edu 37 3 33135566 33135566 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:33135566C>T uc003cfk.2 - 2 313 c.122G>A c.(121-123)CGT>CAT p.R41H GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Intron NM_001039770 NP_001034859 Q6ZT21 TMPPE_HUMAN transmembrane protein with 41 integral to membrane metal ion binding 0 AAGCAGCCAACGCCAGGCCCT 0.602 NA 6 63 0 0 0 0 MLH1 4292 broad.mit.edu 37 3 37059048 37059048 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:37059048C>T uc003cgl.2 + 10 902 c.842C>T c.(841-843)GCA>GTA p.A281V MLH1_uc011aye.1_Missense_Mutation_p.A40V|MLH1_uc011ayb.1_Missense_Mutation_p.A40V|MLH1_uc010hge.2_Missense_Mutation_p.A281V|MLH1_uc003cgn.3_Missense_Mutation_p.A40V|MLH1_uc011ayc.1_Missense_Mutation_p.A183V|MLH1_uc011ayd.1_Missense_Mutation_p.A40V|MLH1_uc003cgo.2_Missense_Mutation_p.A40V|MLH1_uc010hgg.1_Intron|MLH1_uc010hgh.1_Intron|MLH1_uc010hgi.1_5'UTR|MLH1_uc010hgj.1_Intron|MLH1_uc010hgk.2_Intron|MLH1_uc010hgl.1_5'UTR NM_000249 NP_000240 P40692 MLH1_HUMAN MutL protein homolog 1 281 Missing (in HNPCC2). mismatch repair|somatic hypermutation of immunoglobulin genes chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|protein binding p.0?(1) large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|breast(3)|prostate(3)|skin(2)|NS(1) 77 ACAGTGTATGCAGCCTATTTG 0.428 1 D|Mis|N|F|S colorectal|endometrial|ovarian|CNS colorectal|endometrial|ovarian|CNS MMR Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome 21 153 0 0 0 0 RTP3 83597 broad.mit.edu 37 3 46542332 46542332 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:46542332C>G uc003cps.1 + 2 710 c.642C>G c.(640-642)TTC>TTG p.F214L NM_031440 NP_113628 Q9BQQ7 RTP3_HUMAN transmembrane protein 7 214 Helical; (Potential). detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane cytoplasm|integral to membrane protein binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204) TAAGCATTTTCTGCTGTTGTG 0.328 NA 12 173 0 0 0 0 PTPN23 25930 broad.mit.edu 37 3 47448072 47448072 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:47448072G>A uc003crf.1 + 8 825 c.729G>A c.(727-729)ATG>ATA p.M243I PTPN23_uc011baw.1_Missense_Mutation_p.M208I|PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Missense_Mutation_p.M113I NM_015466 NP_056281 Q9H3S7 PTN23_HUMAN protein tyrosine phosphatase, non-receptor type 243 BRO1. cilium morphogenesis cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TTGTGCAGATGAAGATCTACT 0.617 NA 5 66 0 0 0 0 AMT 275 broad.mit.edu 37 3 49455119 49455119 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:49455119G>A uc003cww.2 - 9 1195 c.1066C>T c.(1066-1068)CTG>TTG p.L356L AMT_uc011bcn.1_3'UTR|AMT_uc003cwx.2_Silent_p.L356L|AMT_uc011bco.1_Silent_p.L312L|AMT_uc003cwy.2_Silent_p.L308L|AMT_uc011bcp.1_Silent_p.L259L|AMT_uc011bcq.1_Silent_p.L300L NM_000481 NP_000472 P48728 GCST_HUMAN aminomethyltransferase isoform 1 precursor 356 glycine catabolic process mitochondrion aminomethyltransferase activity|transaminase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) NADH(DB00157)|Tetrahydrofolic acid(DB00116) TTCTTCTTCAGAGAGGGGGAG 0.592 NA 11 123 0 0 0 0 BSN 8927 broad.mit.edu 37 3 49698774 49698774 + Missense_Mutation SNP A A G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:49698774A>G uc003cxe.3 + 6 9610 c.9496A>G c.(9496-9498)AGC>GGC p.S3166G NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 3166 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GGTGATCGCCAGCCCCGTTGT 0.627 NA 7 83 0 0 0 0 RBM6 10180 broad.mit.edu 37 3 50006080 50006080 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:50006080G>A uc003cyc.2 + 3 1355 c.1222G>A c.(1222-1224)GAT>AAT p.D408N RBM6_uc011bdh.1_RNA|RBM6_uc010hlc.1_Intron|RBM6_uc003cyd.2_Intron|RBM6_uc003cye.2_Intron|RBM6_uc011bdi.1_Intron|RBM6_uc010hld.1_Intron|RBM6_uc010hle.1_Intron|RBM6_uc010hlf.1_Intron NM_005777 NP_005768 P78332 RBM6_HUMAN RNA binding motif protein 6 408 RNA processing nucleus DNA binding|nucleotide binding|RNA binding|zinc ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) GGAGTACCGTGATGTGGATCA 0.522 NA 10 73 0 0 0 0 RBM6 10180 broad.mit.edu 37 3 50006127 50006127 + Missense_Mutation SNP G G T rs147351457 TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:50006127G>T uc003cyc.2 + 3 1402 c.1269G>T c.(1267-1269)CAG>CAT p.Q423H RBM6_uc011bdh.1_RNA|RBM6_uc010hlc.1_Intron|RBM6_uc003cyd.2_Intron|RBM6_uc003cye.2_Intron|RBM6_uc011bdi.1_Intron|RBM6_uc010hld.1_Intron|RBM6_uc010hle.1_Intron|RBM6_uc010hlf.1_Intron NM_005777 NP_005768 P78332 RBM6_HUMAN RNA binding motif protein 6 423 RNA processing nucleus DNA binding|nucleotide binding|RNA binding|zinc ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) GCTATGGCCAGAGCAAGTCTT 0.473 NA 8 61 5.49e-09 5.91e-09 1 0 NISCH 11188 broad.mit.edu 37 3 52522252 52522252 + Missense_Mutation SNP A A G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:52522252A>G uc011beg.1 + 17 2816 c.2744A>G c.(2743-2745)CAG>CGG p.Q915R NISCH_uc003ded.3_Missense_Mutation_p.Q915R|NISCH_uc003dee.3_Missense_Mutation_p.Q404R|NISCH_uc003deg.1_RNA|NISCH_uc003deh.3_5'Flank NM_007184 NP_009115 Q9Y2I1 NISCH_HUMAN nischarin 915 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) CTCACGCCCCAGCACCTCAAC 0.652 NA 7 64 0 0 0 0 LRTM1 57408 broad.mit.edu 37 3 54958711 54958711 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:54958711T>C uc003dhl.2 - 2 673 c.539A>G c.(538-540)AAC>AGC p.N180S CACNA2D3_uc003dhf.2_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron NM_020678 NP_065729 Q9HBL6 LRTM1_HUMAN leucine-rich repeats and transmembrane domains 1 180 Extracellular (Potential).|LRRCT. integral to membrane 0 KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502) TTTCCAGAGGTTGTCCTTGAG 0.463 NA 19 206 0 0 0 0 WNT5A 7474 broad.mit.edu 37 3 55504433 55504433 + Missense_Mutation SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:55504433C>A uc003dhn.2 - 5 1148 c.830G>T c.(829-831)CGG>CTG p.R277L WNT5A_uc003dhm.2_Missense_Mutation_p.R262L|WNT5A_uc010hmw.2_Missense_Mutation_p.R262L|WNT5A_uc010hmx.2_Missense_Mutation_p.R188L NM_003392 NP_003383 P41221 WNT5A_HUMAN wingless-type MMTV integration site family, 277 activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding 0 KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204) GCTGTTGAGCCGCATGGCCGC 0.612 NA 4 14 0.00909568 0.00921004 1 0 FAM116A 201627 broad.mit.edu 37 3 57613942 57613942 + Nonstop_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:57613942C>G uc003dja.2 - 20 1897 c.1826G>C c.(1825-1827)TGA>TCA p.*609S NM_152678 NP_689891 Q8IWF6 F116A_HUMAN hypothetical protein LOC201627 609 pancreas(1) 1 BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607) TGGCAAATATCATGTCATGCC 0.438 NA 17 206 0 0 0 0 SHQ1 55164 broad.mit.edu 37 3 72799729 72799729 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:72799729G>A uc003dpf.2 - 11 1547 c.1440C>T c.(1438-1440)CTC>CTT p.L480L SHQ1_uc010hod.2_Silent_p.L391L NM_018130 NP_060600 Q6PI26 SHQ1_HUMAN SHQ1 homolog 480 Ser-rich. ribonucleoprotein complex assembly cytosol|nucleoplasm protein binding ovary(2)|large_intestine(1) 3 Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204) BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213) GACTATCTTTGAGTTCATCTT 0.468 NA 11 131 0 0 0 0 GXYLT2 727936 broad.mit.edu 37 3 73004381 73004381 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:73004381G>C uc003dpg.2 + 4 733 c.733G>C c.(733-735)GAA>CAA p.E245Q NM_001080393 NP_001073862 A0PJZ3 GXLT2_HUMAN glycosyltransferase 8 domain containing 4 245 Lumenal (Potential). O-glycan processing integral to membrane UDP-xylosyltransferase activity 0 CCCTGAGCACGAAATCCCCAA 0.493 NA 6 51 0 0 0 0 STXBP5L 9515 broad.mit.edu 37 3 120977960 120977960 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:120977960G>C uc003eec.3 + 18 2043 c.1903G>C c.(1903-1905)GAT>CAT p.D635H STXBP5L_uc011bji.1_Missense_Mutation_p.D635H NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 635 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane ovary(7)|skin(2) 9 GBM - Glioblastoma multiforme(114;0.0694) GGTGTGGGTAGATGGTGAACC 0.348 NA 8 113 0 0 0 0 KALRN 8997 broad.mit.edu 37 3 124397074 124397074 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:124397074C>T uc003ehg.2 + 50 7358 c.7231C>T c.(7231-7233)CGG>TGG p.R2411W KALRN_uc003ehk.2_Missense_Mutation_p.R714W NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 2410 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 CATGAGAAAGCGGGCGGAAGT 0.483 NA 14 148 0 0 0 0 SLC12A8 84561 broad.mit.edu 37 3 124839464 124839464 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:124839464G>A uc003ehv.3 - 7 914 c.803C>T c.(802-804)TCC>TTC p.S268F SLC12A8_uc003ehw.3_Missense_Mutation_p.S297F|SLC12A8_uc010hrz.1_Missense_Mutation_p.S133F|SLC12A8_uc003eht.3_Missense_Mutation_p.S69F|SLC12A8_uc003ehu.3_Missense_Mutation_p.S21F|SLC12A8_uc010hry.2_Missense_Mutation_p.S21F NM_024628 NP_078904 A0AV02 S12A8_HUMAN solute carrier family 12, member 8 268 Helical; (Potential). potassium ion transport integral to membrane symporter activity 0 AGCTGCCAGGGAGCCCGGGGG 0.597 NA 4 35 0 0 0 0 EEFSEC 60678 broad.mit.edu 37 3 128060436 128060436 + Missense_Mutation SNP G G T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:128060436G>T uc003eki.2 + 5 1185 c.1147G>T c.(1147-1149)GAT>TAT p.D383Y EEFSEC_uc003ekj.2_Missense_Mutation_p.D328Y NM_021937 NP_068756 P57772 SELB_HUMAN eukaryotic elongation factor, 383 cytoplasm|nucleus GTP binding|GTPase activity|translation elongation factor activity ovary(1) 1 CCTGTCCAAGGATTTGACACC 0.532 NA 15 83 7.93e-07 8.38e-07 1 0 GATA2 2624 broad.mit.edu 37 3 128204941 128204941 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:128204941C>T uc003ekm.3 - 4 935 c.500G>A c.(499-501)GGC>GAC p.G167D GATA2_uc003ekn.3_Missense_Mutation_p.G167D|GATA2_uc003eko.2_Missense_Mutation_p.G167D NM_001145661 NP_001139133 P23769 GATA2_HUMAN GATA binding protein 2 isoform 1 167 blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter nucleoplasm C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding haematopoietic_and_lymphoid_tissue(13)|lung(1)|skin(1) 15 GBM - Glioblastoma multiforme(114;0.173) AAGGTGGGAGCCAGAGTGGGC 0.682 NA Mis AML(CML blast transformation) 5 24 0 0 0 0 TRIM42 287015 broad.mit.edu 37 3 140401600 140401600 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:140401600G>A uc003eto.1 + 2 829 c.638G>A c.(637-639)CGT>CAT p.R213H NM_152616 NP_689829 Q8IWZ5 TRI42_HUMAN tripartite motif-containing 42 213 intracellular zinc ion binding p.R213H(1) lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1) 7 CTGCACGGGCGTCTCACCAAG 0.612 NA 9 169 0 0 0 0 ZIC1 7545 broad.mit.edu 37 3 147128155 147128155 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:147128155G>A uc003ewe.2 + 1 975 c.256G>A c.(256-258)GTC>ATC p.V86I NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 86 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 CCCGGGCCACGTCGGCTCCTA 0.697 NA 4 42 0 0 0 0 NMD3 51068 broad.mit.edu 37 3 160968692 160968692 + Silent SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:160968692G>C uc003feb.1 + 16 1625 c.1506G>C c.(1504-1506)CTG>CTC p.L502L NMD3_uc003fec.2_Intron|NMD3_uc003fed.1_Silent_p.L502L NM_015938 NP_057022 Q96D46 NMD3_HUMAN NMD3 homolog 502 Necessary for the nuclear export of the 60S ribosomal subunit. protein transport cytoplasm|nucleolus|nucleoplasm ovary(1) 1 Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156) CATCAATGCTGACATAATGAG 0.433 NA 8 170 0 0 0 0 ECT2 1894 broad.mit.edu 37 3 172534484 172534484 + Missense_Mutation SNP A A G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:172534484A>G uc003fii.2 + 23 2557 c.2419A>G c.(2419-2421)ACA>GCA p.T807A ECT2_uc003fih.2_Missense_Mutation_p.T806A|ECT2_uc003fij.1_Missense_Mutation_p.T807A|ECT2_uc003fik.1_Missense_Mutation_p.T807A|ECT2_uc003fil.1_Missense_Mutation_p.T838A|ECT2_uc003fim.1_Missense_Mutation_p.T106A NM_018098 NP_060568 Q9H8V3 ECT2_HUMAN epithelial cell transforming sequence 2 oncogene 807 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity|signal transducer activity breast(2)|ovary(1)|skin(1) 4 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14) ACTCTAGGTTACAAGAGCATT 0.368 NA 11 66 0 0 0 0 SPATA16 83893 broad.mit.edu 37 3 172642075 172642075 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:172642075C>G uc003fin.3 - 8 1419 c.1261G>C c.(1261-1263)GAT>CAT p.D421H NM_031955 NP_114161 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 421 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding ovary(2)|skin(1) 3 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) CTCACTGTATCTTCTCTGGTC 0.328 NA 9 199 0 0 0 0 MFN1 55669 broad.mit.edu 37 3 179096140 179096140 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:179096140G>A uc003fjs.2 + 13 1467 c.1341G>A c.(1339-1341)AAG>AAA p.K447K MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Silent_p.K475K|MFN1_uc010hxc.2_Intron NM_033540 NP_284941 Q8IWA4 MFN1_HUMAN mitofusin 1 447 Cytoplasmic (Potential). mitochondrial fusion integral to membrane|mitochondrial outer membrane GTP binding|GTPase activity ovary(2)|large_intestine(1) 3 all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923) AATTAAATAAGCACATAGAGG 0.318 NA 12 79 0 0 0 0 MASP1 5648 broad.mit.edu 37 3 186943271 186943271 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:186943271C>T uc003frh.1 - 13 1914 c.1582G>A c.(1582-1584)GAA>AAA p.E528K NM_001879 NP_001870 P48740 MASP1_HUMAN mannan-binding lectin serine protease 1 isoform 528 Peptidase S1. 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) TGTTCATTTTCATCTGACCGG 0.542 NA 24 265 0 0 0 0 LRCH3 84859 broad.mit.edu 37 3 197579467 197579467 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:197579467G>A uc011bul.1 + 13 1571 c.1566G>A c.(1564-1566)CCG>CCA p.P522P LRCH3_uc003fyj.1_Silent_p.P522P|LRCH3_uc011bum.1_Silent_p.P494P|LRCH3_uc011bun.1_Silent_p.P368P|LRCH3_uc003fyk.2_Silent_p.P117P NM_032773 NP_116162 Q96II8 LRCH3_HUMAN leucine-rich repeats and calponin homology (CH) 522 extracellular region ovary(1) 1 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.119) AACAGCACCCGCTCCTAGATG 0.388 NA 10 190 0 0 0 0 ZNF721 170960 broad.mit.edu 37 4 437477 437477 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr4:437477G>A uc003gag.2 - 3 1470 c.779C>T c.(778-780)TCA>TTA p.S260L ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Missense_Mutation_p.S292L|ZNF721_uc010ibe.2_Missense_Mutation_p.S248L NM_133474 NP_597731 D9N162 D9N162_HUMAN zinc finger protein 721 260 intracellular nucleic acid binding|zinc ion binding ovary(1) 1 GCTTGAGGATGAGGAAATGAC 0.378 NA 9 87 0 0 0 0 TACC3 10460 broad.mit.edu 37 4 1729444 1729444 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr4:1729444C>T uc003gdo.2 + 4 423 c.315C>T c.(313-315)CTC>CTT p.L105L TACC3_uc010ibz.2_Silent_p.L105L|TACC3_uc003gdp.2_Intron NM_006342 NP_006333 Q9Y6A5 TACC3_HUMAN transforming, acidic coiled-coil containing 105 centrosome ovary(1)|central_nervous_system(1) 2 Breast(71;0.212)|all_epithelial(65;0.241) OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126) GCCAACAGCTCATCAAGGAAG 0.413 NA 62 517 0 0 0 0 MRFAP1L1 114932 broad.mit.edu 37 4 6711296 6711296 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr4:6711296C>G uc003gjn.2 - 1 301 c.61G>C c.(61-63)GAG>CAG p.E21Q MRFAP1L1_uc003gjo.2_Missense_Mutation_p.E21Q NM_203462 NP_982287 Q96HT8 MR1L1_HUMAN Morf4 family associated protein 1-like 1 21 0 AAATCCTCCTCGGGCTCCAGC 0.637 NA 7 96 0 0 0 0 DRD5 1816 broad.mit.edu 37 4 9784345 9784345 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr4:9784345T>C uc003gmb.3 + 1 1088 c.692T>C c.(691-693)CTC>CCC p.L231P NM_000798 NP_000789 P21918 DRD5_HUMAN dopamine receptor D5 231 Helical; Name=5; (Potential). activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane skin(1) 1 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) TCTTCCTCGCTCATCAGCTTC 0.582 NA 10 93 0 0 0 0 TBC1D1 23216 broad.mit.edu 37 4 38016216 38016216 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr4:38016216G>A uc003gtb.2 + 3 847 c.504G>A c.(502-504)ACG>ACA p.T168T TBC1D1_uc011byd.1_Silent_p.T168T|TBC1D1_uc010ifd.2_Intron|TBC1D1_uc011byf.1_Silent_p.T39T NM_015173 NP_055988 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, 168 nucleus Rab GTPase activator activity ovary(1) 1 TCGACGACACGTTTTCCAAGA 0.617 NA 29 228 0 0 0 0 C4orf14 84273 broad.mit.edu 37 4 57843646 57843646 + Missense_Mutation SNP A A G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr4:57843646A>G uc003hck.2 - 1 181 c.106T>C c.(106-108)TGC>CGC p.C36R POLR2B_uc003hcl.1_5'Flank|POLR2B_uc011cae.1_5'Flank|POLR2B_uc011caf.1_5'Flank NM_032313 NP_115689 Q8NC60 CD014_HUMAN hypothetical protein LOC84273 36 GTP binding ovary(1)|breast(1) 2 Glioma(25;0.08)|all_neural(26;0.181) GCGGCAGCGCACCTCCTCTCC 0.657 NA 6 32 0 0 0 0 ANKRD56 345079 broad.mit.edu 37 4 77817771 77817771 + Missense_Mutation SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr4:77817771C>A uc003hki.2 - 1 1232 c.1232G>T c.(1231-1233)GGG>GTG p.G411V NM_001029870 NP_001025041 A6NEL2 ANR56_HUMAN ankyrin repeat domain 56 411 0 GTCTTTGGGCCCACTGCTGCT 0.567 NA 23 204 3.1e-05 3.25e-05 1 0 HERC6 55008 broad.mit.edu 37 4 89349789 89349789 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr4:89349789G>A uc011cdi.1 + 16 2176 c.1993G>A c.(1993-1995)GAA>AAA p.E665K HERC6_uc011cdj.1_Missense_Mutation_p.E629K|HERC6_uc011cdk.1_RNA|HERC6_uc011cdl.1_RNA NM_017912 NP_060382 Q8IVU3 HERC6_HUMAN hect domain and RLD 6 isoform 1 665 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytosol ubiquitin-protein ligase activity lung(3)|ovary(1)|kidney(1) 5 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000222) AAAAAAGGATGAATTTCCTCC 0.378 NA 5 29 0 0 0 0 H2AFZ 3015 broad.mit.edu 37 4 100869668 100869668 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr4:100869668T>C uc003hvo.1 - 5 523 c.338A>G c.(337-339)CAC>CGC p.H113R DNAJB14_uc003hvl.2_5'Flank|DNAJB14_uc010ili.2_5'Flank|DNAJB14_uc003hvm.2_5'Flank|H2AFZ_uc003hvn.1_3'UTR|LOC256880_uc003hvp.1_5'Flank NM_002106 NP_002097 P0C0S5 H2AZ_HUMAN H2A histone family, member Z 113 nucleosome assembly nucleosome|nucleus DNA binding 0 OV - Ovarian serous cystadenocarcinoma(123;2.32e-08) TTTGTGGATGTGTGGAATGAC 0.368 NA 12 117 0 0 0 0 CENPE 1062 broad.mit.edu 37 4 104057410 104057410 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr4:104057410C>T uc003hxb.1 - 40 6500 c.6410G>A c.(6409-6411)AGA>AAA p.R2137K CENPE_uc003hxc.1_Missense_Mutation_p.R2016K NM_001813 NP_001804 Q02224 CENPE_HUMAN centromere protein E 2137 Kinetochore-binding domain.|Potential. blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity ovary(5)|breast(4) 9 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) TGCTTTAACTCTCATTGAAAG 0.363 NA 16 159 0 0 0 0 PDE5A 8654 broad.mit.edu 37 4 120442176 120442176 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr4:120442176G>A uc003idh.2 - 13 1974 c.1819C>T c.(1819-1821)CGG>TGG p.R607W uc003ide.3_Intron|PDE5A_uc003idf.2_Missense_Mutation_p.R565W|PDE5A_uc003idg.2_Missense_Mutation_p.R555W|uc003idi.3_Intron NM_001083 NP_001074 O76074 PDE5A_HUMAN phosphodiesterase 5A isoform 1 607 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding 0 Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862) ACATTCTTCCGATAATTCTTC 0.299 NA 14 245 0 0 0 0 FAT4 79633 broad.mit.edu 37 4 126336687 126336687 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr4:126336687G>A uc003ifj.3 + 5 6569 c.6569G>A c.(6568-6570)CGC>CAC p.R2190H FAT4_uc011cgp.1_Missense_Mutation_p.R488H NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 2190 Cadherin 21.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GGACAGGTTCGCTATGGCATT 0.413 NA 15 178 0 0 0 0 LARP1B 55132 broad.mit.edu 37 4 129043274 129043274 + Silent SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr4:129043274T>C uc003iga.2 + 11 1586 c.1455T>C c.(1453-1455)AAT>AAC p.N485N LARP1B_uc003igc.2_5'UTR|LARP1B_uc003ifz.1_Silent_p.N485N|LARP1B_uc003igb.1_Silent_p.N200N NM_018078 NP_060548 Q659C4 LAR1B_HUMAN La ribonucleoprotein domain family member 2 485 RNA binding 0 AAGTTATCAATGATGGCTTAT 0.403 NA 20 154 0 0 0 0 MAML3 55534 broad.mit.edu 37 4 140641384 140641384 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr4:140641384C>G uc003ihz.1 - 7 3247 c.2495G>C c.(2494-2496)GGA>GCA p.G832A MGST2_uc010ioi.1_Intron|MAML3_uc011chd.1_Missense_Mutation_p.G300A NM_018717 NP_061187 Q96JK9 MAML3_HUMAN mastermind-like 3 833 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity ovary(1) 1 all_hematologic(180;0.162) GGGTCCTATTCCCATCATGCC 0.607 NA 14 277 0 0 0 0 SMARCA5 8467 broad.mit.edu 37 4 144459762 144459762 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr4:144459762C>T uc003ijg.2 + 12 1977 c.1515C>T c.(1513-1515)TTC>TTT p.F505F NM_003601 NP_003592 O60264 SMCA5_HUMAN SWI/SNF-related matrix-associated 505 Helicase C-terminal. CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding skin(1) 1 all_hematologic(180;0.158) TACTAATCTTCAGTCAAATGA 0.373 NA 18 198 0 0 0 0 KIAA0922 23240 broad.mit.edu 37 4 154517420 154517420 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr4:154517420C>T uc003inm.3 + 20 2055 c.2003C>T c.(2002-2004)TCT>TTT p.S668F KIAA0922_uc010ipp.2_Missense_Mutation_p.S669F|KIAA0922_uc010ipq.2_Missense_Mutation_p.S437F NM_015196 NP_056011 A2VDJ0 T131L_HUMAN hypothetical protein LOC23240 isoform 2 668 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 all_hematologic(180;0.093) Renal(120;0.118) GGTACGCATTCTGAGGAATCC 0.418 NA 18 232 0 0 0 0 TKTL2 84076 broad.mit.edu 37 4 164394865 164394865 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr4:164394865G>A uc003iqp.3 - 1 183 c.22C>T c.(22-24)CCC>TCC p.P8S NM_032136 NP_115512 Q9H0I9 TKTL2_HUMAN transketolase-like 2 8 cytoplasm metal ion binding|transketolase activity ovary(2)|skin(2)|pancreas(1) 5 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) TTCACGTCGGGCTTGGCGTCG 0.637 NA 6 38 0 0 0 0 VEGFC 7424 broad.mit.edu 37 4 177650751 177650751 + Silent SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr4:177650751G>C uc003ius.1 - 2 727 c.297C>G c.(295-297)CTC>CTG p.L99L NM_005429 NP_005420 P49767 VEGFC_HUMAN vascular endothelial growth factor C 99 angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity lung(5) 5 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) TCCTTGAGTTGAGGTTGGCCT 0.373 NA 7 122 0 0 0 0 STOX2 56977 broad.mit.edu 37 4 184930441 184930441 + Silent SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr4:184930441C>G uc003ivz.1 + 3 1885 c.450C>G c.(448-450)CTC>CTG p.L150L STOX2_uc003iwa.1_5'UTR NM_020225 NP_064610 Q9P2F5 STOX2_HUMAN storkhead box 2 150 embryo development|maternal placenta development 0 all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283) all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227) CTCCTTCCCTCATAAGAACTA 0.532 NA 10 68 0 0 0 0 PDLIM3 27295 broad.mit.edu 37 4 186425655 186425655 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr4:186425655G>A uc003ixw.3 - 7 1003 c.879C>T c.(877-879)CTC>CTT p.L293L PDLIM3_uc003ixx.3_Silent_p.L245L|PDLIM3_uc010isi.2_RNA NM_014476 NP_055291 Q53GG5 PDLI3_HUMAN PDZ and LIM domain protein 3 isoform a 293 LIM zinc-binding. sarcomere zinc ion binding ovary(2) 2 all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171) ATTTGTCACAGAGCGGCATCC 0.502 NA 5 59 0 0 0 0 MARCH6 10299 broad.mit.edu 37 5 10405790 10405790 + Splice_Site SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr5:10405790G>A uc003jet.1 + 16 1635 c.1452_splice c.e16+1 p.V484_splice MARCH6_uc011cmu.1_Splice_Site_p.V436_splice|MARCH6_uc003jeu.1_Splice_Site_p.V182_splice|MARCH6_uc011cmv.1_Splice_Site_p.V379_splice NM_005885 NP_005876 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6 protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|breast(1) 2 TTTGTCAGTGGTAAGAAGATG 0.328 NA 6 99 0 0 0 0 MYO10 4651 broad.mit.edu 37 5 16694554 16694554 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr5:16694554G>A uc003jft.3 - 27 4194 c.3726C>T c.(3724-3726)CGC>CGT p.R1242R MYO10_uc011cnc.1_Silent_p.R121R|MYO10_uc011cnd.1_Silent_p.R599R|MYO10_uc011cne.1_Silent_p.R599R|MYO10_uc010itx.2_Silent_p.R865R NM_012334 NP_036466 Q9HD67 MYO10_HUMAN myosin X 1242 PH 1. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity ovary(2)|pancreas(1) 3 GCTTGGACTGGCGGAGGACAA 0.572 NA 21 195 0 0 0 0 CDH9 1007 broad.mit.edu 37 5 26906877 26906877 + Silent SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr5:26906877G>C uc003jgs.1 - 4 763 c.594C>G c.(592-594)GTC>GTG p.V198V CDH9_uc010iug.2_Silent_p.V198V NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 198 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 ATATGCTATAGACCACTTTGG 0.398 NA 9 80 0 0 0 0 EGFLAM 133584 broad.mit.edu 37 5 38427202 38427202 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr5:38427202C>T uc003jlc.1 + 14 2226 c.1902C>T c.(1900-1902)TTC>TTT p.F634F EGFLAM_uc003jlb.1_Silent_p.F634F|EGFLAM_uc003jle.1_Silent_p.F400F|EGFLAM_uc003jlf.1_5'UTR NM_152403 NP_689616 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G 634 Laminin G-like 2. cell junction|proteinaceous extracellular matrix|synapse pancreas(3)|skin(3)|ovary(1) 7 all_lung(31;0.000385) ACCTTTCCTTCATGGAATTTG 0.493 NA 25 193 0 0 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41019061 41019061 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr5:41019061C>T uc003jmj.3 - 25 2991 c.2501G>A c.(2500-2502)CGG>CAG p.R834Q HEATR7B2_uc003jmi.3_Missense_Mutation_p.R389Q NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 834 binding ovary(6)|central_nervous_system(2) 8 CAGCAGCCTCCGAATATTCTC 0.458 NA 9 47 0 0 0 0 HCN1 348980 broad.mit.edu 37 5 45262736 45262736 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr5:45262736T>C uc003jok.2 - 8 1985 c.1960A>G c.(1960-1962)ACG>GCG p.T654A NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 654 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 GTCGGGGTCGTAGTAGACGAT 0.537 NA 21 146 0 0 0 0 VCAN 1462 broad.mit.edu 37 5 82843897 82843897 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr5:82843897G>A uc003kii.3 + 10 9843 c.9487G>A c.(9487-9489)GAG>AAG p.E3163K VCAN_uc003kij.3_Missense_Mutation_p.E2176K|VCAN_uc010jau.2_Missense_Mutation_p.E1409K|VCAN_uc003kik.3_Missense_Mutation_p.E422K|VCAN_uc003kil.3_Missense_Mutation_p.E1827K NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 3163 EGF-like 2; calcium-binding (Potential). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TGCACTTTGTGAGCAAGGTAA 0.388 NA 10 110 0 0 0 0 FBN2 2201 broad.mit.edu 37 5 127670419 127670419 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr5:127670419C>T uc003kuu.2 - 31 4530 c.4091G>A c.(4090-4092)GGA>GAA p.G1364E FBN2_uc003kuv.2_Missense_Mutation_p.G1331E NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 1364 EGF-like 21; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) ACCTGTACATCCTGTGGTCCC 0.428 NA 9 162 0 0 0 0 RAPGEF6 51735 broad.mit.edu 37 5 130782325 130782325 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr5:130782325C>T uc003kvn.1 - 22 3478 c.3272G>A c.(3271-3273)CGC>CAC p.R1091H RAPGEF6_uc003kvp.1_Missense_Mutation_p.R1141H|RAPGEF6_uc003kvo.1_Missense_Mutation_p.R1104H|RAPGEF6_uc010jdi.1_Missense_Mutation_p.R1099H|RAPGEF6_uc010jdj.1_Missense_Mutation_p.R1099H|RAPGEF6_uc003kvq.2_Missense_Mutation_p.R816H|RAPGEF6_uc003kvr.2_Missense_Mutation_p.R1091H|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc003kvm.1_Missense_Mutation_p.R14H NM_016340 NP_057424 Q8TEU7 RPGF6_HUMAN PDZ domain-containing guanine nucleotide 1091 Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding ovary(1)|lung(1)|central_nervous_system(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) AGAGCTGCGGCGTGCCCTTTT 0.453 NA 31 270 0 0 0 0 PCDHA12 56137 broad.mit.edu 37 5 140256838 140256838 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr5:140256838T>C uc003lic.2 + 1 1908 c.1781T>C c.(1780-1782)GTG>GCG p.V594A PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.V594A NM_018903 NP_061726 Q9UN75 PCDAC_HUMAN protocadherin alpha 12 isoform 1 precursor 594 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGGCGAAAGTGCGCGCGGTG 0.692 NA 10 92 0 0 0 0 PCDHB14 56122 broad.mit.edu 37 5 140604569 140604569 + Missense_Mutation SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr5:140604569C>A uc003ljb.2 + 1 1492 c.1492C>A c.(1492-1494)CTG>ATG p.L498M PCDHB14_uc011dal.1_Missense_Mutation_p.L345M NM_018934 NP_061757 Q9Y5E9 PCDBE_HUMAN protocadherin beta 14 precursor 498 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGACCGGCACCTGCCCCTCGC 0.652 NA 25 162 7.34e-06 7.72e-06 1 0 PCDHGB1 56104 broad.mit.edu 37 5 140731194 140731194 + Missense_Mutation SNP A A G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr5:140731194A>G uc003ljo.1 + 1 1367 c.1367A>G c.(1366-1368)CAC>CGC p.H456R PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Missense_Mutation_p.H456R NM_018922 NP_061745 Q9Y5G3 PCDGD_HUMAN protocadherin gamma subfamily B, 1 isoform 1 456 Extracellular (Potential).|Cadherin 5. 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) TATGTGGTCCACGTGTCTGAG 0.562 NA 6 68 0 0 0 0 PCDHGA5 56110 broad.mit.edu 37 5 140744135 140744135 + Nonsense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr5:140744135C>T uc003lju.1 + 1 238 c.238C>T c.(238-240)CGA>TGA p.R80* 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_Nonsense_Mutation_p.R80* NM_018918 NP_061741 Q9Y5G8 PCDG5_HUMAN protocadherin gamma subfamily A, 5 isoform 1 80 Cadherin 1.|Extracellular (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) CCTGAACCCGCGAAGCGGCAG 0.607 NA 13 115 0 0 0 0 DIAPH1 1729 broad.mit.edu 37 5 140962827 140962827 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr5:140962827G>A uc003llb.3 - 6 707 c.566C>T c.(565-567)GCC>GTC p.A189V DIAPH1_uc003llc.3_Missense_Mutation_p.A180V NM_005219 NP_005210 O60610 DIAP1_HUMAN diaphanous 1 isoform 1 189 GBD/FH3. regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane actin binding|receptor binding|Rho GTPase binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAATAAGGAGGCCAAGCCTTC 0.413 NA 14 295 0 0 0 0 CPEB4 80315 broad.mit.edu 37 5 173380196 173380196 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr5:173380196C>T uc003mcs.3 + 9 3289 c.1883C>T c.(1882-1884)GCG>GTG p.A628V CPEB4_uc010jju.1_Missense_Mutation_p.A603V|CPEB4_uc010jjv.2_Missense_Mutation_p.A611V|CPEB4_uc011dfg.1_Missense_Mutation_p.A603V|CPEB4_uc003mct.3_Missense_Mutation_p.A238V|CPEB4_uc003mcu.3_Missense_Mutation_p.A221V NM_030627 NP_085130 Q17RY0 CPEB4_HUMAN cytoplasmic polyadenylation element binding 628 RRM 2. 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) GGGAGAGTTGCGTTCTCTAAT 0.463 NA 18 206 0 0 0 0 GNB2L1 10399 broad.mit.edu 37 5 180666085 180666085 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr5:180666085G>A uc003mni.1 - 5 724 c.618C>T c.(616-618)CTC>CTT p.L206L GNB2L1_uc003mnh.1_Silent_p.L165L|GNB2L1_uc003mnk.1_Silent_p.L128L|GNB2L1_uc003mnj.1_Silent_p.L160L|GNB2L1_uc003mnl.1_5'UTR|GNB2L1_uc011dhk.1_Silent_p.L206L|GNB2L1_uc010jls.2_3'UTR NM_006098 NP_006089 P63244 GBLP_HUMAN guanine nucleotide binding protein (G protein), 206 WD 5. apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain 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;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11) CAGAAGCACAGAGGGATCCAT 0.517 NA 15 260 0 0 0 0 DSP 1832 broad.mit.edu 37 6 7574448 7574448 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:7574448G>A uc003mxp.1 + 16 2539 c.2260G>A c.(2260-2262)GAA>AAA p.E754K DSP_uc003mxq.1_Missense_Mutation_p.E754K NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 754 Globular 1. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TCAGAAACTGGAAAATATCAA 0.353 NA 9 151 0 0 0 0 DSP 1832 broad.mit.edu 37 6 7574454 7574454 + Missense_Mutation SNP A A T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:7574454A>T uc003mxp.1 + 16 2545 c.2266A>T c.(2266-2268)ATC>TTC p.I756F DSP_uc003mxq.1_Missense_Mutation_p.I756F NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 756 Globular 1. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) ACTGGAAAATATCAATGGTGT 0.348 NA 8 154 0 0 0 0 TFAP2A 7020 broad.mit.edu 37 6 10404781 10404781 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:10404781C>G uc003myr.2 - 4 976 c.724G>C c.(724-726)GAG>CAG p.E242Q TFAP2A_uc003myq.2_Missense_Mutation_p.E236Q|TFAP2A_uc003mys.2_RNA|TFAP2A_uc011dih.1_Missense_Mutation_p.E242Q|TFAP2A_uc003myt.2_Missense_Mutation_p.E238Q|TFAP2A_uc003myu.1_Missense_Mutation_p.E242Q NM_003220 NP_003211 P05549 AP2A_HUMAN transcription factor AP-2 alpha isoform a 242 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) TTGAGACACTCGGGTGGTGAG 0.507 NA 5 24 0 0 0 0 SLC17A4 10050 broad.mit.edu 37 6 25762243 25762243 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:25762243G>A uc003nfe.2 + 2 172 c.53G>A c.(52-54)GGC>GAC p.G18D SLC17A4_uc011djx.1_Missense_Mutation_p.G18D|SLC17A4_uc003nff.1_5'UTR|SLC17A4_uc003nfg.2_5'UTR NM_005495 NP_005486 Q9Y2C5 S17A4_HUMAN solute carrier family 17 (sodium phosphate), 18 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity skin(1) 1 TCCAGTGATGGCAATTTAAAC 0.418 NA 10 80 0 0 0 0 HIST1H2AC 8334 broad.mit.edu 37 6 26124494 26124494 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:26124494C>T uc003ngm.2 + 1 122 c.34C>T c.(34-36)CGC>TGC p.R12C HIST1H2BC_uc003ngk.3_5'Flank|HIST1H2BC_uc003ngl.2_5'Flank|HIST1H2AC_uc003ngn.2_RNA|HIST1H2AC_uc003ngo.2_RNA|HIST1H2AC_uc003ngp.2_Missense_Mutation_p.R12C NM_003512 NP_003503 Q93077 H2A1C_HUMAN histone cluster 1, H2ac 12 nucleosome assembly nucleosome|nucleus DNA binding 0 AGGCAAAGCTCGCGCCAAAGC 0.542 NA 6 58 0 0 0 0 ZNF311 282890 broad.mit.edu 37 6 28962832 28962832 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:28962832G>A uc003nlu.2 - 7 2460 c.1947C>T c.(1945-1947)CTC>CTT p.L649L ZNF311_uc011dlk.1_Silent_p.L557L|ZNF311_uc003nlv.2_Silent_p.L557L NM_001010877 NP_001010877 Q5JNZ3 ZN311_HUMAN zinc finger protein 311 649 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding 0 TCACTGGAGAGAGGGATTTCC 0.358 NA 11 100 0 0 0 0 OR2J2 26707 broad.mit.edu 37 6 29141556 29141556 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:29141556C>G uc011dlm.1 + 1 246 c.144C>G c.(142-144)ATC>ATG p.I48M NM_030905 NP_112167 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, 48 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TCATCATCATCCTGTCATACG 0.443 NA 26 363 0 0 0 0 TRIM10 10107 broad.mit.edu 37 6 30122127 30122127 + Silent SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:30122127C>A uc003npo.3 - 7 1141 c.1065G>T c.(1063-1065)CTG>CTT p.L355L TRIM10_uc003npn.2_Silent_p.L355L NM_006778 NP_006769 Q9UDY6 TRI10_HUMAN tripartite motif-containing 10 isoform 1 355 B30.2/SPRY. cytoplasm zinc ion binding 0 CAGTGTGGGCCAGAACACAGG 0.612 NA 5 72 0.000602214 0.000621774 1 0 HLA-C 3107 broad.mit.edu 37 6 31238116 31238116 + Nonsense_Mutation SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:31238116C>A uc003nsy.2 - 4 773 c.766G>T c.(766-768)GAG>TAG p.E256* HLA-C_uc011dnj.1_Nonsense_Mutation_p.E228*|HLA-C_uc003nsx.2_Nonsense_Mutation_p.E135*|HLA-C_uc003nsz.2_Nonsense_Mutation_p.E256*|HLA-C_uc010jsl.2_Nonsense_Mutation_p.E256*|HLA-C_uc003nta.2_Nonsense_Mutation_p.E256*|HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-C_uc011dnl.1_Nonsense_Mutation_p.E135* NM_002117 NP_002108 Q9TNN7 1C05_HUMAN major histocompatibility complex, class I, C 256 Extracellular (Potential).|Alpha-3.|Ig-like C1-type. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex 0 GGCCTGGTCTCCACAAGCTCG 0.627 NA 9 114 0.00448238 0.00456553 1 0 RUNX2 860 broad.mit.edu 37 6 45390398 45390398 + Missense_Mutation SNP A A G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:45390398A>G uc011dvx.1 + 3 337 c.127A>G c.(127-129)AGC>GGC p.S43G RUNX2_uc011dvy.1_Missense_Mutation_p.S43G|RUNX2_uc003oxt.2_Missense_Mutation_p.S29G NM_001024630 NP_001019801 Q13950 RUNX2_HUMAN runt-related transcription factor 2 isoform a 43 negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 GAGCGACGTGAGCCCGGTGGT 0.378 NA 8 49 0 0 0 0 EFHC1 114327 broad.mit.edu 37 6 52318995 52318995 + Nonsense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:52318995C>T uc003pap.3 + 5 1041 c.826C>T c.(826-828)CGA>TGA p.R276* EFHC1_uc011dwv.1_Nonsense_Mutation_p.R185*|EFHC1_uc011dww.1_Nonsense_Mutation_p.R257* NM_018100 NP_060570 Q5JVL4 EFHC1_HUMAN EF-hand domain (C-terminal) containing 1 276 DM10 2. axoneme|neuronal cell body calcium ion binding|protein C-terminus binding ovary(2)|skin(1) 3 Lung NSC(77;0.109) GGTGGAAATTCGAGAGGTCCA 0.448 NA 18 163 0 0 0 0 KHDRBS2 202559 broad.mit.edu 37 6 62995847 62995848 + Missense_Mutation DNP CT CT GG TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:62995847_62995848CT>GG uc003peg.2 - 1 253_254 c.6_7AG>CC c.(4-9)GAAGAG>GACCAG p.2_3EE>DQ NM_152688 NP_689901 Q5VWX1 KHDR2_HUMAN KH domain-containing, RNA-binding, signal 2_3 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding skin(7)|ovary(3)|liver(1) 11 BRCA - Breast invasive adenocarcinoma(397;0.149) TATTTCTCCTCTTCCATAGCGC 0.609 NA 4 33 0 0 0 0 CD109 135228 broad.mit.edu 37 6 74520797 74520797 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:74520797C>T uc003php.2 + 28 4054 c.3629C>T c.(3628-3630)ACG>ATG p.T1210M CD109_uc010kaz.2_Intron|CD109_uc003phq.2_Missense_Mutation_p.T1210M|CD109_uc010kba.2_Missense_Mutation_p.T1133M NM_133493 NP_598000 Q6YHK3 CD109_HUMAN CD109 antigen isoform 1 precursor 1210 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity large_intestine(2)|ovary(2) 4 GTGACCGTGACGGGGCCTAGC 0.458 NA 18 133 0 0 0 0 HTR1B 3351 broad.mit.edu 37 6 78173080 78173080 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:78173080G>A uc003pil.1 - 1 41 c.41C>T c.(40-42)GCG>GTG p.A14V NM_000863 NP_000854 P28222 5HT1B_HUMAN 5-hydroxytryptamine (serotonin) receptor 1B 14 Extracellular (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission integral to plasma membrane protein binding|serotonin receptor activity 0 all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332) BRCA - Breast invasive adenocarcinoma(397;0.205) Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315) CTCGGAGCCCGCGGGCGGCGG 0.642 NA 10 130 0 0 0 0 USP45 85015 broad.mit.edu 37 6 99894228 99894228 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:99894228T>C uc003ppx.2 - 14 1953 c.1420A>G c.(1420-1422)AGC>GGC p.S474G USP45_uc003ppv.2_Intron|USP45_uc003ppw.2_Missense_Mutation_p.S154G NM_001080481 NP_001073950 Q70EL2 UBP45_HUMAN ubiquitin specific peptidase 45 474 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding ovary(1)|breast(1) 2 all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133) BRCA - Breast invasive adenocarcinoma(108;0.0718) TTCATGAGGCTGGCAAACATT 0.398 NA 11 105 0 0 0 0 SEC63 11231 broad.mit.edu 37 6 108246120 108246120 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:108246120C>T uc003psc.3 - 3 510 c.241G>A c.(241-243)GCA>ACA p.A81T NM_007214 NP_009145 Q9UGP8 SEC63_HUMAN SEC63-like protein 81 Helical; (Potential). protein folding|protein targeting to membrane endoplasmic reticulum membrane|integral to membrane heat shock protein binding|receptor activity|unfolded protein binding ovary(1)|skin(1) 2 all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294) BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054) GCCCATCCTGCAAGCAGAACT 0.348 NA 8 124 0 0 0 0 NR2E1 7101 broad.mit.edu 37 6 108492787 108492787 + Missense_Mutation SNP G G T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:108492787G>T uc003psg.2 + 2 906 c.151G>T c.(151-153)GTC>TTC p.V51F NM_003269 NP_003260 Q9Y466 NR2E1_HUMAN nuclear receptor subfamily 2, group E, member 1 51 Nuclear receptor. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding central_nervous_system(1)|skin(1) 2 all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637) BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689) TAGGACCTATGTCTGCAAATC 0.577 NA 35 259 3.66e-26 4.06e-26 1 0 MICAL1 64780 broad.mit.edu 37 6 109765452 109765452 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:109765452C>T uc003ptj.2 - 24 3400 c.3146G>A c.(3145-3147)CGC>CAC p.R1049H MICAL1_uc003ptk.2_Missense_Mutation_p.R1049H|MICAL1_uc010kdr.2_Missense_Mutation_p.R963H|MICAL1_uc011eaq.1_Missense_Mutation_p.R1068H NM_022765 NP_073602 Q8TDZ2 MICA1_HUMAN microtubule associated monoxygenase, calponin 1049 cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding breast(2)|ovary(1) 3 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) CTCCTGGAAGCGGATGAGGGC 0.592 NA 10 60 0 0 0 0 TSPYL4 23270 broad.mit.edu 37 6 116574172 116574172 + Nonsense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:116574172G>A uc003pwn.2 - 1 1090 c.1000C>T c.(1000-1002)CGA>TGA p.R334* DSE_uc011ebf.1_5'Flank|TSPYL4_uc011ebe.1_Nonsense_Mutation_p.R162*|uc003pwo.1_5'Flank NM_021648 NP_067680 Q9UJ04 TSYL4_HUMAN TSPY-like 4 334 nucleosome assembly nucleus 0 all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234) all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125) TCTTGGCCTCGGTGCCAGCGG 0.532 NA 7 86 0 0 0 0 HBS1L 10767 broad.mit.edu 37 6 135363201 135363201 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:135363201T>C uc003qez.2 - 3 380 c.173A>G c.(172-174)TAT>TGT p.Y58C HBS1L_uc011ecy.1_5'UTR|HBS1L_uc011ecz.1_Intron|HBS1L_uc011eda.1_Intron|HBS1L_uc003qfa.2_Missense_Mutation_p.Y58C NM_006620 NP_006611 Q9Y450 HBS1L_HUMAN Hsp70 subfamily B suppressor 1-like protein 58 signal transduction GTP binding|GTPase activity|translation elongation factor activity skin(2) 2 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702) CAGATCTTCATAATCATATTC 0.358 NA 6 86 0 0 0 0 MAP3K5 4217 broad.mit.edu 37 6 136913701 136913701 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:136913701C>G uc003qhc.2 - 22 3291 c.2930G>C c.(2929-2931)AGC>ACC p.S977T MAP3K5_uc011edj.1_Missense_Mutation_p.S224T|MAP3K5_uc011edk.1_Missense_Mutation_p.S823T NM_005923 NP_005914 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 977 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding ovary(2)|skin(2)|lung(1) 5 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) ACTGCTGCTGCTGGTGTCCTC 0.478 NA 8 132 0 0 0 0 KIAA1244 57221 broad.mit.edu 37 6 138615205 138615205 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:138615205G>A uc003qhu.2 + 20 3444 c.3444G>A c.(3442-3444)TCG>TCA p.S1148S NM_020340 NP_065073 Q5TH69 BIG3_HUMAN brefeldin A-inhibited guanine 1148 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity ovary(1)|skin(1) 2 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) AGAAAGCATCGCAGTCTCAGC 0.433 NA 12 111 0 0 0 0 SASH1 23328 broad.mit.edu 37 6 148855055 148855055 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:148855055G>A uc003qme.1 + 15 2358 c.1883G>A c.(1882-1884)CGG>CAG p.R628Q SASH1_uc011eeb.1_Missense_Mutation_p.R389Q|SASH1_uc003qmf.1_Missense_Mutation_p.R38Q NM_015278 NP_056093 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 628 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) AGGAGGCGTCGGAAAGGACGA 0.537 NA 18 150 0 0 0 0 SYNE1 23345 broad.mit.edu 37 6 152826378 152826378 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:152826378C>T uc010kiw.2 - 9 1338 c.736G>A c.(736-738)GCC>ACC p.A246T SYNE1_uc003qot.3_Missense_Mutation_p.A253T|SYNE1_uc003qou.3_Missense_Mutation_p.A246T|SYNE1_uc010kjb.1_Missense_Mutation_p.A246T|SYNE1_uc003qpa.1_Missense_Mutation_p.A246T NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 246 Actin-binding.|CH 2.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TCTGTTTCGGCGATAGTGAAA 0.433 NA HNSCC(10;0.0054) 8 101 0 0 0 0 TAGAP 117289 broad.mit.edu 37 6 159462434 159462434 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:159462434C>T uc003qrz.2 - 6 761 c.429G>A c.(427-429)GCG>GCA p.A143A TAGAP_uc011eft.1_Silent_p.A80A|TAGAP_uc003qsa.2_5'UTR|TAGAP_uc003qsb.2_Silent_p.A143A|uc003qsc.2_5'Flank NM_054114 NP_473455 Q8N103 TAGAP_HUMAN T-cell activation Rho GTPase-activating protein 143 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|guanyl-nucleotide exchange factor activity ovary(1) 1 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) CCAGATCCACCGCATCCCCAG 0.552 NA 8 135 0 0 0 0 IGF2R 3482 broad.mit.edu 37 6 160468852 160468852 + Missense_Mutation SNP G G A rs141234361 TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:160468852G>A uc003qta.2 + 17 2406 c.2258G>A c.(2257-2259)CGG>CAG p.R753Q NM_000876 NP_000867 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor precursor 753 5.|Lumenal (Potential). receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity ovary(3) 3 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) TACAACTTCCGGTGGTACACC 0.552 NA 11 162 0 0 0 0 SUN1 23353 broad.mit.edu 37 7 899771 899771 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:899771G>A uc011jvp.1 + 15 1610 c.1531G>A c.(1531-1533)GTG>ATG p.V511M GET4_uc003sjj.1_RNA|SUN1_uc003sjf.2_Missense_Mutation_p.V428M|SUN1_uc011jvq.1_Missense_Mutation_p.V408M|SUN1_uc003sjg.2_Missense_Mutation_p.V416M|SUN1_uc011jvr.1_Missense_Mutation_p.V309M|SUN1_uc003sji.2_Missense_Mutation_p.V349M|SUN1_uc003sjk.2_Missense_Mutation_p.V150M NM_001130965 NP_001124437 O94901 SUN1_HUMAN unc-84 homolog A isoform a 538 Perinuclear space. cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding 0 CTAGGTGGACGTGCAAGTCAG 0.433 NA 5 82 0 0 0 0 RAC1 5879 broad.mit.edu 37 7 6441974 6441974 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:6441974C>T uc003spx.2 + 6 717 c.476C>T c.(475-477)GCG>GTG p.A159V RAC1_uc003spw.2_Missense_Mutation_p.A178V NM_006908 NP_008839 P63000 RAC1_HUMAN ras-related C3 botulinum toxin substrate 1 159 actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction cytosol|melanosome|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding lung(2) 2 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.104) Pravastatin(DB00175)|Simvastatin(DB00641) GAGTGCTCGGCGCTCACACAG 0.567 NA 10 89 0 0 0 0 GLCCI1 113263 broad.mit.edu 37 7 8110704 8110704 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:8110704G>A uc003srk.2 + 6 1679 c.1120G>A c.(1120-1122)GAA>AAA p.E374K NM_138426 NP_612435 Q86VQ1 GLCI1_HUMAN glucocorticoid induced transcript 1 374 0 Ovarian(82;0.0608) UCEC - Uterine corpus endometrioid carcinoma (126;0.206) TTGTCCCCCGGAATCCCAGGA 0.498 NA 15 272 0 0 0 0 CDCA7L 55536 broad.mit.edu 37 7 21946011 21946011 + Missense_Mutation SNP G G A rs139249411 TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:21946011G>A uc010kuk.2 - 6 937 c.817C>T c.(817-819)CGG>TGG p.R273W CDCA7L_uc003sve.3_Missense_Mutation_p.R239W|CDCA7L_uc010kul.2_Missense_Mutation_p.R227W|CDCA7L_uc003svf.3_Missense_Mutation_p.R272W NM_018719 NP_061189 Q96GN5 CDA7L_HUMAN cell division cycle associated 7-like isoform 1 273 positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus 0 CGCGCACTCCGGGTTGGGTTC 0.527 NA 23 275 0 0 0 0 NPY 4852 broad.mit.edu 37 7 24324938 24324938 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:24324938G>A uc003sww.1 + 2 165 c.79G>A c.(79-81)GAG>AAG p.E27K NM_000905 NP_000896 P01303 NPY_HUMAN neuropeptide Y precursor 27 adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission cell|extracellular space calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity 0 TGCGCTGGCCGAGGCGTACCC 0.642 NA 8 86 0 0 0 0 DFNA5 1687 broad.mit.edu 37 7 24789321 24789321 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:24789321G>C uc010kus.1 - 2 161 c.73C>G c.(73-75)CTG>GTG p.L25V DFNA5_uc003swz.2_Intron|DFNA5_uc003sxa.1_Missense_Mutation_p.L25V|DFNA5_uc010kut.1_Intron|DFNA5_uc003sxb.2_Missense_Mutation_p.L25V|DFNA5_uc003sxc.2_Missense_Mutation_p.L25V NM_001127453 NP_001120925 O60443 DFNA5_HUMAN deafness, autosomal dominant 5 protein isoform 25 sensory perception of sound ovary(1) 1 GAGTCATTCAGATTTGATACT 0.403 NA 27 277 0 0 0 0 C7orf31 136895 broad.mit.edu 37 7 25176366 25176366 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:25176366C>T uc003sxn.1 - 10 1559 c.998G>A c.(997-999)GGA>GAA p.G333E C7orf31_uc003sxm.1_Missense_Mutation_p.G175E NM_138811 NP_620166 Q8N865 CG031_HUMAN hypothetical protein LOC136895 333 0 GGCAATTCGTCCTTCCAACGG 0.433 NA 42 307 0 0 0 0 PLEKHA8 84725 broad.mit.edu 37 7 30094365 30094365 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:30094365G>A uc003tam.1 + 8 928 c.837G>A c.(835-837)CTG>CTA p.L279L PLEKHA8_uc003tao.2_Silent_p.L163L|PLEKHA8_uc003tap.1_Silent_p.L279L|PLEKHA8_uc003tan.2_Silent_p.L279L NM_032639 NP_116028 Q96JA3 PKHA8_HUMAN pleckstrin homology domain containing, family A 279 protein transport cytoplasm glycolipid binding|glycolipid transporter activity breast(3)|ovary(1) 4 TGGAAAACCTGAAAAATCATG 0.343 NA 14 145 0 0 0 0 NOD1 10392 broad.mit.edu 37 7 30485798 30485798 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:30485798G>A uc003tav.2 - 9 2935 c.2412C>T c.(2410-2412)CTC>CTT p.L804L NM_006092 NP_006083 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain 804 LRR 5. activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|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 basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity ovary(1)|skin(1) 2 CAGCCAGGGCGAGATACTTCC 0.527 NA 17 217 0 0 0 0 NPSR1 387129 broad.mit.edu 37 7 34724286 34724286 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:34724286G>A uc003teg.1 + 2 398 c.270G>A c.(268-270)CTG>CTA p.L90L AAA1_uc010kwo.1_Intron|AAA1_uc010kwp.1_Intron|AAA1_uc003tdz.2_Intron|AAA1_uc010kwq.1_Intron|AAA1_uc003teb.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teh.1_Silent_p.L90L|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Silent_p.L90L|NPSR1_uc003tei.1_Silent_p.L90L|NPSR1_uc010kww.1_Silent_p.L90L|NPSR1_uc011kar.1_Silent_p.L90L NM_207172 NP_997055 Q6W5P4 NPSR1_HUMAN G protein-coupled receptor for asthma 90 Helical; Name=2; (Potential). cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity skin(3)|pancreas(1) 4 Halothane(DB01159) TGACTCAGCTGGCCATCACAG 0.393 NA 7 103 0 0 0 0 TBX20 57057 broad.mit.edu 37 7 35280555 35280555 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:35280555T>C uc011kas.1 - 5 760 c.749A>G c.(748-750)GAA>GGA p.E250G NM_001077653 NP_001071121 Q9UMR3 TBX20_HUMAN T-box transcription factor TBX20 250 T-box. nucleus DNA binding central_nervous_system(1) 1 AGTTCTAAATTCTTCAGACTT 0.398 NA 8 100 0 0 0 0 GLI3 2737 broad.mit.edu 37 7 42017296 42017296 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:42017296G>C uc011kbh.1 - 12 1764 c.1673C>G c.(1672-1674)TCG>TGG p.S558W GLI3_uc011kbg.1_Missense_Mutation_p.S499W NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 558 C2H2-type 3. negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 TTCTAGTCTCGAGTAGGCCTT 0.458 NA Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome OREG0018015 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 139 0 0 0 0 MRPS24 64951 broad.mit.edu 37 7 43906549 43906549 + Nonsense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:43906549G>A uc003tit.1 - 4 304 c.253C>T c.(253-255)CGA>TGA p.R85* NM_032014 NP_114403 Q96EL2 RT24_HUMAN mitochondrial ribosomal protein S24 precursor 85 translation mitochondrial large ribosomal subunit|mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome 0 TCCACCGTTCGCTCTGCGGCA 0.557 NA 11 92 0 0 0 0 AEBP1 165 broad.mit.edu 37 7 44153765 44153765 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:44153765G>C uc003tkb.2 + 21 3687 c.3382G>C c.(3382-3384)GAG>CAG p.E1128Q AEBP1_uc003tkc.3_Missense_Mutation_p.E703Q|AEBP1_uc003tkd.2_Missense_Mutation_p.E378Q NM_001129 NP_001120 Q8IUX7 AEBP1_HUMAN adipocyte enhancer binding protein 1 precursor 1128 Required for transcriptional repression (By similarity).|Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity). cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 GTTTgaggaagaggaggagga 0.463 NA 5 77 0 0 0 0 IGFBP3 3486 broad.mit.edu 37 7 45956231 45956231 + Missense_Mutation SNP A A T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:45956231A>T uc003tns.2 - 3 798 c.666T>A c.(664-666)AAT>AAA p.N222K IGFBP3_uc003tnq.2_RNA|IGFBP3_uc003tnr.2_Missense_Mutation_p.N228K|IGFBP3_uc003tnt.2_Missense_Mutation_p.N125K NM_000598 NP_000589 P17936 IBP3_HUMAN insulin-like growth factor binding protein 3 222 Thyroglobulin type-1. negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth nucleus insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity large_intestine(2)|lung(1) 3 Mecasermin(DB01277) ACTTCAGGTGATTCAGTGTGT 0.463 NA 28 226 0 0 0 0 PKD1L1 168507 broad.mit.edu 37 7 47906074 47906074 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:47906074C>G uc003tny.1 - 25 4035 c.4035G>C c.(4033-4035)TGG>TGC p.W1345C NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 1345 Extracellular (Potential).|REJ. cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 GTATTCGTGACCATTGGTTGC 0.433 NA 11 131 0 0 0 0 ABCA13 154664 broad.mit.edu 37 7 48428758 48428758 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:48428758C>G uc003toq.2 + 37 11620 c.11595C>G c.(11593-11595)TTC>TTG p.F3865L ABCA13_uc010kys.1_Missense_Mutation_p.F939L|ABCA13_uc003tos.1_Missense_Mutation_p.F691L|ABCA13_uc010kyt.1_RNA NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 3865 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 GCCTGACCTTCTACAGAGACC 0.537 NA 10 78 0 0 0 0 ELN 2006 broad.mit.edu 37 7 73455550 73455550 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:73455550C>T uc003tzw.2 + 5 292 c.201C>T c.(199-201)CCC>CCT p.P67P RFC2_uc011kfa.1_Intron|ELN_uc003tzm.1_RNA|ELN_uc011kfe.1_Silent_p.P67P|ELN_uc003tzn.2_Silent_p.P67P|ELN_uc003tzz.2_Intron|ELN_uc003tzo.2_Silent_p.P67P|ELN_uc003tzp.2_Silent_p.P57P|ELN_uc003tzq.2_Silent_p.P67P|ELN_uc003tzr.2_RNA|ELN_uc003tzs.2_Silent_p.P67P|ELN_uc003tzt.2_Silent_p.P67P|ELN_uc003tzu.2_Silent_p.P67P|ELN_uc003tzv.2_Silent_p.P57P|ELN_uc003tzx.2_Silent_p.P57P|ELN_uc011kff.1_Silent_p.P67P|ELN_uc003tzy.2_Silent_p.P57P NM_000501 NP_001075224 P15502 ELN_HUMAN elastin isoform a precursor 67 blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding ovary(3)|pancreas(2) 5 Lung NSC(55;0.159) Rofecoxib(DB00533) CCACAGTTCCCGGAGGGCTTG 0.587 NA T PAX5 B-ALL Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome 54 569 0 0 0 0 ZNF804B 219578 broad.mit.edu 37 7 88962840 88962840 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:88962840C>T uc011khi.1 + 4 1082 c.544C>T c.(544-546)CGG>TGG p.R182W NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 182 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) CGATAAACAGCGGTCCACCAT 0.413 NA HNSCC(36;0.09) 10 104 0 0 0 0 ANKIB1 54467 broad.mit.edu 37 7 92027054 92027054 + Missense_Mutation SNP A A G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:92027054A>G uc003ulw.2 + 19 2789 c.2413A>G c.(2413-2415)AGC>GGC p.S805G ANKIB1_uc010lew.1_Missense_Mutation_p.S74G NM_019004 NP_061877 Q9P2G1 AKIB1_HUMAN ankyrin repeat and IBR domain containing 1 805 protein binding|zinc ion binding lung(1) 1 all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) AGAAGGCGGCAGCAGCAGCCG 0.458 NA 17 271 0 0 0 0 PON3 5446 broad.mit.edu 37 7 94996775 94996775 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:94996775C>T uc003unt.2 - 5 418 c.393G>A c.(391-393)GTG>GTA p.V131V PON1_uc011kih.1_Intron|PON3_uc011kii.1_Silent_p.V179V NM_000940 NP_000931 Q15166 PON3_HUMAN paraoxonase 3 131 aromatic compound catabolic process|carboxylic acid catabolic process|response to external stimulus extracellular space aryldialkylphosphatase activity|arylesterase activity|metal ion binding|protein homodimerization activity ovary(1) 1 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0151) GGGGATGATTCACAACATAAA 0.328 NA 15 184 0 0 0 0 GAL3ST4 79690 broad.mit.edu 37 7 99758392 99758392 + Missense_Mutation SNP C C T rs143212385 TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:99758392C>T uc003utt.2 - 3 1637 c.620G>A c.(619-621)CGC>CAC p.R207H C7orf43_uc003utr.2_5'Flank|C7orf43_uc003uts.2_5'Flank|GAL3ST4_uc003utu.2_Missense_Mutation_p.R207H|GAL3ST4_uc010lgq.2_Missense_Mutation_p.R145H NM_024637 NP_078913 Q96RP7 G3ST4_HUMAN galactose-3-O-sulfotransferase 4 207 Lumenal (Potential). cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane|membrane fraction 3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity ovary(3) 3 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TAGTAAGTTGCGAGCGTAGTG 0.592 NA 15 144 0 0 0 0 PSMC2 5701 broad.mit.edu 37 7 102996176 102996176 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:102996176G>C uc003vbs.2 + 4 296 c.226G>C c.(226-228)GCA>CCA p.A76P SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011kln.1_Missense_Mutation_p.A76P|PSMC2_uc011klo.1_Intron NM_002803 NP_002794 P35998 PRS7_HUMAN proteasome 26S ATPase subunit 2 76 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding 0 GGCCCCACCAGCACTCTGGGA 0.438 NA 7 70 0 0 0 0 RELN 5649 broad.mit.edu 37 7 103138545 103138545 + Missense_Mutation SNP T T A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:103138545T>A uc003vca.2 - 54 8982 c.8822A>T c.(8821-8823)GAT>GTT p.D2941V RELN_uc010liz.2_Missense_Mutation_p.D2941V NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 2941 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) AAGATCCAAATCTTGTGTAAC 0.423 NA 16 166 0 0 0 0 ORC5L 5001 broad.mit.edu 37 7 103835694 103835694 + Silent SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:103835694T>C uc003vcb.2 - 5 561 c.450A>G c.(448-450)AGA>AGG p.R150R ORC5L_uc011klp.1_Silent_p.R18R|ORC5L_uc003vcc.2_Silent_p.R150R|ORC5L_uc003vcd.2_Silent_p.R150R NM_002553 NP_002544 O43913 ORC5_HUMAN origin recognition complex subunit 5 isoform 1 150 cell cycle checkpoint|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 cytoplasm|nuclear origin of replication recognition complex|nucleoplasm ATP binding|DNA replication origin binding|identical protein binding 0 CAGTCACATTTCTGTCAGCCT 0.348 NA 9 98 0 0 0 0 ORC5L 5001 broad.mit.edu 37 7 103838195 103838195 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:103838195C>G uc003vcb.2 - 4 530 c.419G>C c.(418-420)GGA>GCA p.G140A ORC5L_uc011klp.1_Missense_Mutation_p.G8A|ORC5L_uc003vcc.2_Missense_Mutation_p.G140A|ORC5L_uc003vcd.2_Missense_Mutation_p.G140A NM_002553 NP_002544 O43913 ORC5_HUMAN origin recognition complex subunit 5 isoform 1 140 cell cycle checkpoint|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 cytoplasm|nuclear origin of replication recognition complex|nucleoplasm ATP binding|DNA replication origin binding|identical protein binding 0 TCTAAGAAATCCAGGCAAAAG 0.184 NA 4 49 0 0 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117375351 117375351 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:117375351G>A uc003vjf.2 - 15 3752 c.3660C>T c.(3658-3660)AGC>AGT p.S1220S NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 1220 ovary(4)|central_nervous_system(1) 5 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) GGCTTTCAGTGCTGCGATTTT 0.388 NA 10 124 0 0 0 0 GPR37 2861 broad.mit.edu 37 7 124386639 124386639 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:124386639C>T uc003vli.2 - 2 2433 c.1782G>A c.(1780-1782)TCG>TCA p.S594S NM_005302 NP_005293 O15354 GPR37_HUMAN G protein-coupled receptor 37 precursor 594 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to plasma membrane G-protein coupled receptor activity ovary(1)|lung(1)|central_nervous_system(1) 3 TACTGAAAGGCGAGAGTTCGA 0.463 NA 17 182 0 0 0 0 CPA2 1358 broad.mit.edu 37 7 129910535 129910535 + Silent SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:129910535C>G uc003vpq.2 + 4 310 c.291C>G c.(289-291)GTC>GTG p.V97V CPA2_uc011kpc.1_Silent_p.V97V NM_001869 NP_001860 P48052 CBPA2_HUMAN carboxypeptidase A2 (pancreatic) precursor 97 proteolysis|vacuolar protein catabolic process extracellular region|vacuole metallocarboxypeptidase activity|zinc ion binding ovary(1) 1 Melanoma(18;0.0435) TATCTTAGGTCCTGTTGGACA 0.423 NA 11 102 0 0 0 0 DGKI 9162 broad.mit.edu 37 7 137092654 137092654 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:137092654T>C uc003vtt.2 - 31 2912 c.2911A>G c.(2911-2913)AAC>GAC p.N971D DGKI_uc003vtu.2_Missense_Mutation_p.N640D NM_004717 NP_004708 O75912 DGKI_HUMAN diacylglycerol kinase, iota 971 ANK 1. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1)|skin(1) 3 ATCTCCCCGTTGCCGGTTTTA 0.428 NA 12 193 0 0 0 0 AKR1D1 6718 broad.mit.edu 37 7 137801394 137801394 + Missense_Mutation SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:137801394C>A uc003vtz.2 + 9 1036 c.967C>A c.(967-969)CAT>AAT p.H323N AKR1D1_uc011kqe.1_3'UTR|AKR1D1_uc011kqf.1_Missense_Mutation_p.H282N|AKR1D1_uc010lmy.1_RNA NM_005989 NP_005980 P51857 AK1D1_HUMAN aldo-keto reductase family 1, member D1 323 androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion cytosol aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding skin(1) 1 ATACCCATTTCATGATGAATA 0.448 NA 10 172 4.38e-07 4.65e-07 1 0 ATP6V0A4 50617 broad.mit.edu 37 7 138394405 138394405 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:138394405C>T uc003vuf.2 - 20 2631 c.2393G>A c.(2392-2394)GGC>GAC p.G798D ATP6V0A4_uc003vug.2_Missense_Mutation_p.G798D|ATP6V0A4_uc003vuh.2_Missense_Mutation_p.G798D NM_130841 NP_570856 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit 798 Cytoplasmic (Potential). cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity pancreas(1) 1 AGCAGAGAGGCCCTCCATGAT 0.448 NA 16 376 0 0 0 0 TTC26 79989 broad.mit.edu 37 7 138874171 138874171 + Missense_Mutation SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:138874171C>A uc003vus.2 + 18 1772 c.1658C>A c.(1657-1659)TCC>TAC p.S553Y TTC26_uc011kqn.1_3'UTR|TTC26_uc011kqo.1_Missense_Mutation_p.S522Y|TTC26_uc011kqp.1_Missense_Mutation_p.S448Y|TTC26_uc003vut.2_Missense_Mutation_p.S413Y|TTC26_uc011kqq.1_Missense_Mutation_p.S422Y NM_024926 NP_079202 A0AVF1 TTC26_HUMAN tetratricopeptide repeat domain 26 isoform 1 553 binding ovary(1) 1 AACAGAGTGTCCATCTAAAAT 0.428 NA 20 163 3.99e-14 4.4e-14 1 0 DENND2A 27147 broad.mit.edu 37 7 140301642 140301642 + Missense_Mutation SNP A A G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:140301642A>G uc010lnj.2 - 1 701 c.556T>C c.(556-558)TAC>CAC p.Y186H DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.Y186H|DENND2A_uc003vvw.2_Missense_Mutation_p.Y186H|DENND2A_uc003vvx.2_Missense_Mutation_p.Y186H NM_015689 NP_056504 Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 186 ovary(3)|breast(1) 4 Melanoma(164;0.00956) TGTGGGGAGTAACAAGTCCCT 0.607 NA 9 132 0 0 0 0 OR6B1 135946 broad.mit.edu 37 7 143701563 143701563 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:143701563G>A uc003wdt.1 + 1 474 c.474G>A c.(472-474)GCG>GCA p.A158A NM_001005281 NP_001005281 O95007 OR6B1_HUMAN olfactory receptor, family 6, subfamily B, 158 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Melanoma(164;0.0783) TCTCCCTGGCGAAGATCTACT 0.532 NA 12 93 0 0 0 0 CUL1 8454 broad.mit.edu 37 7 148463737 148463737 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:148463737G>A uc010lpg.2 + 8 1400 c.874G>A c.(874-876)GAA>AAA p.E292K CUL1_uc003wey.2_Missense_Mutation_p.E292K|CUL1_uc003wez.2_Missense_Mutation_p.E182K NM_003592 NP_003583 Q13616 CUL1_HUMAN cullin 1 292 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|nucleoplasm|SCF ubiquitin ligase complex ubiquitin protein ligase binding lung(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) AAGGAAATGTGAACAAGTCCT 0.378 NA 12 72 0 0 0 0 ZNF786 136051 broad.mit.edu 37 7 148767536 148767536 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:148767536C>G uc003wfh.2 - 4 2465 c.2328G>C c.(2326-2328)ATG>ATC p.M776I ZNF786_uc011kuk.1_Missense_Mutation_p.M739I|ZNF786_uc003wfi.2_Missense_Mutation_p.M690I NM_152411 NP_689624 Q8N393 ZN786_HUMAN zinc finger protein 786 776 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|skin(1) 4 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) CGGCCTCTATCATTGCAAACA 0.498 NA 42 495 0 0 0 0 AGAP3 116988 broad.mit.edu 37 7 150815687 150815687 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:150815687G>A uc003wjg.1 + 7 940 c.937G>A c.(937-939)GCC>ACC p.A313T AGAP3_uc003wje.1_Missense_Mutation_p.A85T|AGAP3_uc003wjf.1_Missense_Mutation_p.A313T|AGAP3_uc010lpy.1_Missense_Mutation_p.A313T|AGAP3_uc003wjh.1_Missense_Mutation_p.A493T|AGAP3_uc003wji.1_5'Flank NM_031946 NP_114152 Q96P47 AGAP3_HUMAN centaurin, gamma 3 isoform a 277 Small GTPase-like. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|ovary(1) 3 GGCCGTGTCCGCCGCCTCCAT 0.662 NA 10 148 0 0 0 0 SMARCD3 6604 broad.mit.edu 37 7 150945607 150945607 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:150945607C>T uc003wjs.2 - 1 143 c.42G>A c.(40-42)ACG>ACA p.T14T SMARCD3_uc003wjt.2_Intron|SMARCD3_uc003wju.2_Intron|SMARCD3_uc011kvh.1_Silent_p.T14T|SMARCD3_uc010lqa.1_Silent_p.T14T NM_001003801 NP_001003801 Q6STE5 SMRD3_HUMAN SWI/SNF related, matrix associated, actin 14 cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding ovary(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GTTTGCTTTTCGTGGCTTTGC 0.507 NA 23 184 0 0 0 0 MLL3 58508 broad.mit.edu 37 7 151884562 151884562 + Splice_Site SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:151884562C>A uc003wla.2 - 33 5013 c.4794_splice c.e33-1 p.R1598_splice MLL3_uc003wkz.2_Splice_Site_p.R659_splice NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) ATTTTTATCCCTGGGAAAAAA 0.313 NA N medulloblastoma 25 197 6.36e-07 6.74e-07 1 0 ESYT2 57488 broad.mit.edu 37 7 158557391 158557391 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:158557391G>C uc003wob.1 - 9 1288 c.1222C>G c.(1222-1224)CCA>GCA p.P408A ESYT2_uc003woc.1_Missense_Mutation_p.P232A|ESYT2_uc003wod.1_Missense_Mutation_p.P408A|ESYT2_uc003woa.1_5'Flank NM_020728 NP_065779 A0FGR8 ESYT2_HUMAN family with sequence similarity 62 (C2 domain 436 C2 1. integral to membrane|plasma membrane central_nervous_system(2)|kidney(1) 3 TTCCACTTTGGACTGAGGTTC 0.512 NA 18 251 0 0 0 0 TUSC3 7991 broad.mit.edu 37 8 15480730 15480730 + Nonsense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr8:15480730C>T uc003wwt.2 + 2 490 c.280C>T c.(280-282)CAG>TAG p.Q94* TUSC3_uc003wwr.2_Nonsense_Mutation_p.Q94*|TUSC3_uc003wws.2_Nonsense_Mutation_p.Q94*|TUSC3_uc003wwu.2_Nonsense_Mutation_p.Q94*|TUSC3_uc003wwv.2_Nonsense_Mutation_p.Q94*|TUSC3_uc003www.2_Nonsense_Mutation_p.Q94*|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Nonsense_Mutation_p.Q94* NM_006765 NP_006756 Q13454 TUSC3_HUMAN tumor suppressor candidate 3 isoform a 94 cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex ovary(2)|central_nervous_system(1) 3 Colorectal(111;0.113) CACTGCTCTTCAGCCTCAGCG 0.313 NA 14 166 0 0 0 0 PSD3 23362 broad.mit.edu 37 8 18729698 18729698 + Nonsense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr8:18729698G>A uc003wza.2 - 3 779 c.676C>T c.(676-678)CAG>TAG p.Q226* NM_015310 NP_056125 Q9NYI0 PSD3_HUMAN ADP-ribosylation factor guanine nucleotide 226 regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity ovary(3) 3 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) ATCTCTGCCTGAGTGTCTCCA 0.473 NA 16 209 0 0 0 0 KIAA1967 57805 broad.mit.edu 37 8 22464808 22464808 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr8:22464808C>G uc003xch.2 + 6 594 c.457C>G c.(457-459)CAC>GAC p.H153D KIAA1967_uc003xci.2_Missense_Mutation_p.H153D|KIAA1967_uc003xcj.1_5'UTR NM_199205 NP_954675 Q8N163 K1967_HUMAN p30 DBC protein 153 apoptosis|positive regulation of apoptosis mitochondrial matrix|nucleus enzyme binding|enzyme inhibitor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) CTTCCAGCCTCACCGGATTCC 0.552 NA 5 63 0 0 0 0 DOCK5 80005 broad.mit.edu 37 8 25250378 25250378 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr8:25250378G>C uc003xeg.2 + 44 4644 c.4507G>C c.(4507-4509)GAA>CAA p.E1503Q PPP2R2A_uc003xek.2_Intron|DOCK5_uc003xei.2_Missense_Mutation_p.E1073Q|DOCK5_uc003xej.2_RNA NM_024940 NP_079216 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 1503 DHR-2. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3) 3 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) CAAGTGGTTTGAAGTCAAACA 0.388 NA 3 34 0 0 0 0 XKR4 114786 broad.mit.edu 37 8 56435944 56435944 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr8:56435944G>A uc003xsf.2 + 3 1143 c.1111G>A c.(1111-1113)GCC>ACC p.A371T NM_052898 NP_443130 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related 371 Helical; (Potential). integral to membrane pancreas(2) 2 Epithelial(17;0.000117)|all cancers(17;0.000836) CAGCTACATGGCCGTCATCAT 0.587 NA 8 121 0 0 0 0 FAM110B 90362 broad.mit.edu 37 8 59059120 59059120 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr8:59059120G>A uc003xtj.1 + 5 1211 c.331G>A c.(331-333)GTG>ATG p.V111M NM_147189 NP_671722 Q8TC76 F110B_HUMAN hypothetical protein LOC90362 111 microtubule organizing center|mitochondrion|nucleus large_intestine(1) 1 all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355) CGAGAGCGGCGTGCAGAGGGA 0.652 NA 8 53 0 0 0 0 VCPIP1 80124 broad.mit.edu 37 8 67578144 67578144 + Silent SNP G G A rs117246146 TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr8:67578144G>A uc003xwn.2 - 1 1309 c.1050C>T c.(1048-1050)TCC>TCT p.S350S SGK3_uc003xwp.2_5'Flank|C8orf44_uc003xwo.1_5'Flank NM_025054 NP_079330 Q96JH7 VCIP1_HUMAN valosin containing protein (p97)/p47 complex 350 OTU. protein ubiquitination endoplasmic reticulum|Golgi stack ubiquitin-specific protease activity lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1) 8 Lung NSC(129;0.142)|all_lung(136;0.227) Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149) GGTTTCTACCGGAGCTGCTCC 0.483 NA 19 218 0 0 0 0 PREX2 80243 broad.mit.edu 37 8 69103989 69103989 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr8:69103989C>G uc003xxv.1 + 36 4406 c.4379C>G c.(4378-4380)CCA>CGA p.P1460R NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 1460 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 AATTCACCACCAAACTCCACA 0.313 NA 9 134 0 0 0 0 JPH1 56704 broad.mit.edu 37 8 75227552 75227552 + Missense_Mutation SNP G G T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr8:75227552G>T uc003yae.2 - 2 723 c.683C>A c.(682-684)TCC>TAC p.S228Y JPH1_uc003yaf.2_Missense_Mutation_p.S228Y|JPH1_uc003yag.1_Missense_Mutation_p.S92Y NM_020647 NP_065698 Q9HDC5 JPH1_HUMAN junctophilin 1 228 Cytoplasmic (Potential).|Ser-rich. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane ovary(1) 1 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) GGAAGACTTGGATTCGGACTT 0.577 NA 20 145 1.96e-10 2.13e-10 1 0 OTUD6B 51633 broad.mit.edu 37 8 92083441 92083441 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr8:92083441C>T uc003yeu.3 + 2 347 c.248C>T c.(247-249)GCC>GTC p.A83V uc003yet.2_5'Flank|OTUD6B_uc011lgh.1_5'UTR NM_016023 NP_057107 Q8N6M0 OTU6B_HUMAN OTU domain containing 6B 53 ovary(2)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(11;0.0187) GAAGATGTGGCCAAGTTGGAA 0.393 NA 18 96 0 0 0 0 CSMD3 114788 broad.mit.edu 37 8 113317138 113317138 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr8:113317138G>A uc003ynu.2 - 52 8237 c.8078C>T c.(8077-8079)ACA>ATA p.T2693I CSMD3_uc003yns.2_Missense_Mutation_p.T1895I|CSMD3_uc003ynt.2_Missense_Mutation_p.T2653I|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2693 Extracellular (Potential).|Sushi 16. 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 GCTTGGACATGTAACAACTAT 0.363 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 6 46 0 0 0 0 CSMD3 114788 broad.mit.edu 37 8 113318368 113318368 + Missense_Mutation SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr8:113318368C>A uc003ynu.2 - 51 8098 c.7939G>T c.(7939-7941)GAC>TAC p.D2647Y CSMD3_uc003yns.2_Missense_Mutation_p.D1849Y|CSMD3_uc003ynt.2_Missense_Mutation_p.D2607Y|CSMD3_uc011lhx.1_Missense_Mutation_p.D2543Y NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2647 Extracellular (Potential).|Sushi 15. 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 ACCAAATAGTCTGTTGTTAGT 0.368 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 10 121 0.00621372 0.0063077 1 0 ENPP2 5168 broad.mit.edu 37 8 120569896 120569896 + Silent SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr8:120569896G>C uc003yot.1 - 25 2543 c.2457C>G c.(2455-2457)CTC>CTG p.L819L ENPP2_uc011lic.1_Silent_p.L357L|ENPP2_uc003yor.1_Silent_p.L454L|ENPP2_uc003yos.1_Silent_p.L871L|ENPP2_uc010mdd.1_Silent_p.L844L NM_001040092 NP_001035181 Q13822 ENPP2_HUMAN autotaxin isoform 2 preproprotein 819 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1) 7 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) GCATCTTCATGAGTTCTTCTA 0.463 NA 22 203 0 0 0 0 TAF2 6873 broad.mit.edu 37 8 120772953 120772953 + Nonsense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr8:120772953G>A uc003you.2 - 20 2854 c.2584C>T c.(2584-2586)CAG>TAG p.Q862* NM_003184 NP_003175 Q6P1X5 TAF2_HUMAN TBP-associated factor 2 862 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding large_intestine(2)|ovary(2)|kidney(1)|skin(1) 6 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) CCGTTCTTCTGAAGTACCCGT 0.393 NA 24 171 0 0 0 0 ZHX1 11244 broad.mit.edu 37 8 124266008 124266008 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr8:124266008G>C uc003yqe.2 - 3 2609 c.2179C>G c.(2179-2181)CAG>GAG p.Q727E C8orf76_uc003yqd.2_Intron|ZHX1_uc003yqf.2_Missense_Mutation_p.Q727E|ZHX1_uc003yqg.2_Intron|ZHX1_uc010mdi.2_Missense_Mutation_p.Q727E NM_007222 NP_009153 Q9UKY1 ZHX1_HUMAN zinc fingers and homeoboxes 1 727 negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) TTGGCGCTCTGATAGTAGTAG 0.502 NA 21 200 0 0 0 0 ZHX1 11244 broad.mit.edu 37 8 124267621 124267621 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr8:124267621T>C uc003yqe.2 - 3 996 c.566A>G c.(565-567)AAT>AGT p.N189S C8orf76_uc003yqd.2_Intron|ZHX1_uc003yqf.2_Missense_Mutation_p.N189S|ZHX1_uc003yqg.2_Intron|ZHX1_uc010mdi.2_Missense_Mutation_p.N189S NM_007222 NP_009153 Q9UKY1 ZHX1_HUMAN zinc fingers and homeoboxes 1 189 negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) TTCCACTTTATTTTTCATCAT 0.353 NA 26 205 0 0 0 0 ADCY8 114 broad.mit.edu 37 8 131792719 131792719 + Missense_Mutation SNP A A G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr8:131792719A>G uc003ytd.3 - 18 3929 c.3673T>C c.(3673-3675)TAC>CAC p.Y1225H ADCY8_uc010mds.2_Missense_Mutation_p.Y1094H NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 1225 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) CGCCGGTTGTAATGACCCTTG 0.517 NA HNSCC(32;0.087) 21 142 0 0 0 0 SLC45A4 57210 broad.mit.edu 37 8 142229061 142229061 + Missense_Mutation SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr8:142229061C>A uc003ywd.1 - 4 833 c.525G>T c.(523-525)TGG>TGT p.W175C SLC45A4_uc003ywc.1_Missense_Mutation_p.W175C|SLC45A4_uc010meq.1_Missense_Mutation_p.W173C NM_001080431 NP_001073900 Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 226 transport integral to membrane ovary(2) 2 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) GGGTCCGGAACCAGCTGCCCA 0.652 NA 17 121 6.94e-10 7.53e-10 1 0 TOP1MT 116447 broad.mit.edu 37 8 144398271 144398271 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr8:144398271G>C uc003yxz.2 - 11 1375 c.1356C>G c.(1354-1356)ATC>ATG p.I452M TOP1MT_uc011lkd.1_Missense_Mutation_p.I354M|TOP1MT_uc011lke.1_Missense_Mutation_p.I354M|TOP1MT_uc010mfb.2_Missense_Mutation_p.I354M|TOP1MT_uc011lkf.1_Missense_Mutation_p.I247M NM_052963 NP_443195 Q969P6 TOP1M_HUMAN mitochondrial topoisomerase I precursor 452 DNA topological change chromosome|mitochondrial nucleoid ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity ovary(1) 1 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) Irinotecan(DB00762)|Topotecan(DB01030) TGTAGGATAAGATCTTAGCTG 0.602 NA 15 112 0 0 0 0 ZC3H3 23144 broad.mit.edu 37 8 144548019 144548019 + Splice_Site SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr8:144548019C>T uc003yyd.2 - 9 2205 c.2176_splice c.e9-1 p.M726_splice NM_015117 NP_055932 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding skin(1) 1 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) ACACCGGCATCTGCAGGGAGG 0.657 NA 5 39 0 0 0 0 EPPK1 83481 broad.mit.edu 37 8 144947011 144947011 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr8:144947011G>A uc003zaa.1 - 1 424 c.411C>T c.(409-411)ATC>ATT p.I137I NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 137 Plectin 3. cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCTCCTTCCCGATGGCCTGAA 0.682 NA 9 46 0 0 0 0 MPDZ 8777 broad.mit.edu 37 9 13121863 13121863 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr9:13121863C>G uc010mia.1 - 37 5163 c.5106G>C c.(5104-5106)CAG>CAC p.Q1702H MPDZ_uc003zkx.3_5'Flank|MPDZ_uc003zky.3_Missense_Mutation_p.Q236H|MPDZ_uc010mib.2_Missense_Mutation_p.Q407H|MPDZ_uc010mhx.2_Missense_Mutation_p.Q524H|MPDZ_uc011lmm.1_Missense_Mutation_p.Q561H|MPDZ_uc003zkz.3_Missense_Mutation_p.Q395H|MPDZ_uc010mhy.2_Missense_Mutation_p.Q1702H|MPDZ_uc010mhz.2_Missense_Mutation_p.Q1669H|MPDZ_uc011lmn.1_Missense_Mutation_p.Q1669H|MPDZ_uc003zlb.3_Missense_Mutation_p.Q1702H NM_003829 NP_003820 O75970 MPDZ_HUMAN multiple PDZ domain protein 1702 PDZ 10. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding ovary(5)|central_nervous_system(1) 6 GBM - Glioblastoma multiforme(50;2.03e-06) GGCGCACTCTCTGTGGCGTCT 0.498 NA 10 52 0 0 0 0 VCP 7415 broad.mit.edu 37 9 35062342 35062342 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr9:35062342C>G uc003zvy.2 - 8 1206 c.817G>C c.(817-819)GAG>CAG p.E273Q VCP_uc003zvz.2_RNA|VCP_uc010mkh.1_5'UTR|VCP_uc010mki.1_Missense_Mutation_p.E228Q NM_007126 NP_009057 P55072 TERA_HUMAN valosin-containing protein 273 activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding upper_aerodigestive_tract(1) 1 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) CTCATGATCTCAGGACCTGAA 0.443 NA 15 128 0 0 0 0 RUSC2 9853 broad.mit.edu 37 9 35546558 35546558 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr9:35546558G>A uc003zww.2 + 2 295 c.40G>A c.(40-42)GTT>ATT p.V14I RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.V14I NM_014806 NP_055621 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 14 cytosol ovary(1) 1 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) GACCCTCATCGTTCATCACAT 0.582 NA 15 202 0 0 0 0 TLN1 7094 broad.mit.edu 37 9 35716472 35716472 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr9:35716472T>C uc003zxt.2 - 20 2894 c.2540A>G c.(2539-2541)GAA>GGA p.E847G NM_006289 NP_006280 Q9Y490 TLN1_HUMAN talin 1 847 axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding lung(7)|breast(3)|ovary(2)|central_nervous_system(1) 13 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CAGATCACTTTCCCCCTCAGC 0.567 NA 23 270 0 0 0 0 RECK 8434 broad.mit.edu 37 9 36087862 36087862 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr9:36087862C>G uc003zyv.2 + 9 895 c.809C>G c.(808-810)TCT>TGT p.S270C RECK_uc003zyw.2_Missense_Mutation_p.S142C|RECK_uc003zyx.2_RNA NM_021111 NP_066934 O95980 RECK_HUMAN RECK protein precursor 270 5 X Knot repeats. anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity skin(2)|ovary(1) 3 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) AGCTCACAATCTGTTCACCCT 0.458 NA 15 94 0 0 0 0 FAM22F 54754 broad.mit.edu 37 9 97084496 97084496 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr9:97084496C>T uc004aup.1 - 3 850 c.829G>A c.(829-831)GAG>AAG p.E277K NM_017561 NP_060031 A1L443 FA22F_HUMAN hypothetical protein LOC54754 277 0 Acute lymphoblastic leukemia(62;0.136) TCCGCCATCTCGTAGAAGATC 0.642 NA 20 119 0 0 0 0 ANKS6 203286 broad.mit.edu 37 9 101552604 101552604 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr9:101552604G>A uc004ayu.2 - 2 665 c.644C>T c.(643-645)GCG>GTG p.A215V ANKS6_uc004ayy.1_RNA NM_173551 NP_775822 Q68DC2 ANKS6_HUMAN ankyrin repeat and sterile alpha motif domain 215 ANK 5. ovary(2) 2 Acute lymphoblastic leukemia(62;0.0527) GTTGGGGTCCGCGCCCCACTC 0.692 NA 7 83 0 0 0 0 SVEP1 79987 broad.mit.edu 37 9 113275247 113275247 + Missense_Mutation SNP A A G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr9:113275247A>G uc010mtz.2 - 5 1599 c.1262T>C c.(1261-1263)CTA>CCA p.L421P SVEP1_uc010mua.1_Missense_Mutation_p.L421P|SVEP1_uc004beu.2_Missense_Mutation_p.L421P|SVEP1_uc004bev.2_Missense_Mutation_p.L165P NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 421 Sushi 1. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 ACCATTGGGTAGACATAAGAT 0.433 NA 6 83 0 0 0 0 ZNF618 114991 broad.mit.edu 37 9 116811382 116811382 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr9:116811382G>C uc004bid.2 + 15 1899 c.1800G>C c.(1798-1800)CAG>CAC p.Q600H ZNF618_uc004bic.2_Missense_Mutation_p.Q507H|ZNF618_uc011lxi.1_Missense_Mutation_p.Q567H|ZNF618_uc011lxj.1_Missense_Mutation_p.Q568H|ZNF618_uc010mvb.2_Missense_Mutation_p.Q190H NM_133374 NP_588615 Q5T7W0 ZN618_HUMAN zinc finger protein 618 600 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ACTGGGTGCAGAACGTGCTGT 0.602 NA 20 129 0 0 0 0 CDK5RAP2 55755 broad.mit.edu 37 9 123234044 123234044 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr9:123234044C>T uc004bkf.2 - 16 2021 c.1840G>A c.(1840-1842)GAA>AAA p.E614K CDK5RAP2_uc004bke.2_5'UTR|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.E614K|CDK5RAP2_uc011lxw.1_5'UTR|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_5'UTR|CDK5RAP2_uc011lya.1_5'UTR|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.E614K|CDK5RAP2_uc004bki.2_Missense_Mutation_p.E413K NM_018249 NP_060719 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 614 brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding ovary(2)|lung(1)|skin(1) 4 CTCCGAATTTCGCTGatctgc 0.269 NA 13 116 0 0 0 0 C5 727 broad.mit.edu 37 9 123758561 123758561 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr9:123758561C>T uc004bkv.2 - 22 2838 c.2808G>A c.(2806-2808)AGG>AGA p.R936R NM_001735 NP_001726 P01031 CO5_HUMAN complement component 5 preproprotein 936 activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) AATAGCTTTCCCTTTTGACAC 0.323 NA 18 294 0 0 0 0 NOTCH1 4851 broad.mit.edu 37 9 139396305 139396305 + Nonsense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr9:139396305G>A uc004chz.2 - 30 5533 c.5533C>T c.(5533-5535)CAG>TAG p.Q1845* NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 1845 Cytoplasmic (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) AGGTGCTGCTGAGTCCACTGC 0.652 NA T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 8 49 0 0 0 0 AGPAT2 10555 broad.mit.edu 37 9 139571495 139571495 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr9:139571495C>T uc004cii.1 - 3 512 c.410G>A c.(409-411)GGC>GAC p.G137D AGPAT2_uc004cij.1_Missense_Mutation_p.G137D NM_006412 NP_006403 O15120 PLCB_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 2 137 Helical; (Potential). phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity 0 all_cancers(76;0.0893)|all_epithelial(76;0.231) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123) GAAGAAGACGCCCCCGAGGTA 0.647 NA 16 202 0 0 0 0 CD99 4267 broad.mit.edu 37 X 2658839 2658839 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:2658839G>A uc004cqm.2 + 10 726 c.552G>A c.(550-552)GAG>GAA p.E184E CD99_uc010nda.2_Silent_p.E168E|CD99_uc004cqn.2_RNA|CD99_uc004cqo.2_Silent_p.E183E NM_002414 NP_002405 P14209 CD99_HUMAN CD99 antigen isoform a precursor 184 Cytoplasmic (Potential). cell adhesion cytoplasm|integral to plasma membrane skin(1) 1 CTCTTTTAGAGAAATAGAAGA 0.522 NA 12 185 0 0 0 0 FRMPD4 9758 broad.mit.edu 37 X 12734553 12734553 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:12734553G>A uc004cuz.1 + 15 2481 c.1975G>A c.(1975-1977)GCC>ACC p.A659T FRMPD4_uc011mij.1_Missense_Mutation_p.A651T NM_014728 NP_055543 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 659 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1) 13 TGGAGACTTCGCCTTGGATGA 0.483 NA 38 402 0 0 0 0 PHKA2 5256 broad.mit.edu 37 X 18959765 18959765 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:18959765G>A uc004cyv.3 - 8 1176 c.746C>T c.(745-747)GCG>GTG p.A249V PHKA2_uc010nfh.1_RNA|PHKA2_uc010nfi.1_Missense_Mutation_p.A158V NM_000292 NP_000283 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 249 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity ovary(1)|central_nervous_system(1) 2 Hepatocellular(33;0.183) AGATGTCGACGCTCTTGGCAG 0.428 NA 6 96 0 0 0 0 YY2 404281 broad.mit.edu 37 X 21875588 21875588 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:21875588G>A uc011mjp.1 + 1 986 c.986G>A c.(985-987)CGC>CAC p.R329H MBTPS2_uc004dae.2_Intron|MBTPS2_uc010nfr.2_Intron|YY2_uc010nfq.2_Missense_Mutation_p.R547H|MBTPS2_uc004dab.2_Intron NM_206923 NP_996806 O15391 TYY2_HUMAN YY2 transcription factor 329 Mediates transcriptional repression.|C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|plasma membrane DNA binding|zinc ion binding breast(1)|skin(1) 2 TTCAATTTGCGCACACACTTG 0.532 NA 58 461 0 0 0 0 DMD 1756 broad.mit.edu 37 X 31164450 31164450 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:31164450T>C uc004dda.1 - 76 11123 c.10879A>G c.(10879-10881)ATG>GTG p.M3627V DMD_uc004dcq.1_Missense_Mutation_p.M898V|DMD_uc004dcr.1_Missense_Mutation_p.M1047V|DMD_uc004dcs.1_Missense_Mutation_p.M1057V|DMD_uc004dct.1_Missense_Mutation_p.M1167V|DMD_uc004dcu.1_Missense_Mutation_p.M1167V|DMD_uc004dcv.1_Missense_Mutation_p.M1154V|DMD_uc004dcw.2_Missense_Mutation_p.M2283V|DMD_uc004dcx.2_Missense_Mutation_p.M2286V|DMD_uc004dcz.2_Missense_Mutation_p.M3504V|DMD_uc004dcy.1_Missense_Mutation_p.M3623V|DMD_uc004ddb.1_Missense_Mutation_p.M3619V|DMD_uc004dcm.1_Missense_Mutation_p.M559V|DMD_uc004dcn.1_Missense_Mutation_p.M546V|DMD_uc004dco.1_Missense_Mutation_p.M559V|DMD_uc004dcp.1_Missense_Mutation_p.M546V|DMD_uc011mkb.1_Missense_Mutation_p.M449V NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 3627 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) CGGAGCAGCATAGGCTGACTG 0.498 NA 12 96 0 0 0 0 FAM47A 158724 broad.mit.edu 37 X 34149420 34149420 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:34149420G>A uc004ddg.2 - 1 1009 c.976C>T c.(976-978)CGC>TGC p.R326C NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 326 ovary(4)|central_nervous_system(1) 5 GGCTCCGGGCGGAGACTGGAC 0.617 NA 4 48 0 0 0 0 FAM47C 442444 broad.mit.edu 37 X 37028001 37028001 + Silent SNP C C T rs149060980 by1000genomes TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:37028001C>T uc004ddl.1 + 1 1532 c.1518C>T c.(1516-1518)CGC>CGT p.R506R NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 506 ovary(3) 3 CCAAGACACGCGTATCTCATC 0.617 NA 10 178 0 0 0 0 CYBB 1536 broad.mit.edu 37 X 37655262 37655262 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:37655262T>C uc004ddr.2 + 6 603 c.542T>C c.(541-543)GTC>GCC p.V181A CYBB_uc011mke.1_RNA|CYBB_uc011mkf.1_Missense_Mutation_p.V149A|CYBB_uc011mkg.1_Intron NM_000397 NP_000388 P04839 CY24B_HUMAN cytochrome b-245 beta polypeptide 181 Helical; (Potential).|Ferric oxidoreductase. electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity central_nervous_system(1)|skin(1) 2 ACTGGAGTTGTCATCACGCTG 0.388 NA 10 151 0 0 0 0 USP9X 8239 broad.mit.edu 37 X 41075704 41075704 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:41075704G>C uc004dfb.2 + 35 6517 c.5884G>C c.(5884-5886)GAT>CAT p.D1962H USP9X_uc004dfc.2_Missense_Mutation_p.D1962H NM_001039590 NP_001034679 Q93008 USP9X_HUMAN ubiquitin specific protease 9, X-linked isoform 1962 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity lung(3)|breast(2)|ovary(1) 6 AATAGACCAAGATGATGAGTT 0.393 NA 14 185 0 0 0 0 SLC38A5 92745 broad.mit.edu 37 X 48319088 48319088 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:48319088G>A uc010nid.2 - 14 1193 c.1015C>T c.(1015-1017)CGC>TGC p.R339C SLC38A5_uc004djk.3_Missense_Mutation_p.R288C NM_033518 NP_277053 Q8WUX1 S38A5_HUMAN solute carrier family 38, member 5 339 Helical; (Potential). cellular nitrogen compound metabolic process|ion transport integral to membrane|plasma membrane ovary(3) 3 ACGGCCAGGCGCACACAGAGG 0.582 NA 9 82 0 0 0 0 TBC1D25 4943 broad.mit.edu 37 X 48417690 48417690 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:48417690C>T uc004dka.1 + 5 772 c.661C>T c.(661-663)CGC>TGC p.R221C TBC1D25_uc011mly.1_Missense_Mutation_p.R163C|TBC1D25_uc004dkb.1_5'UTR|TBC1D25_uc011mlz.1_5'UTR|TBC1D25_uc011mma.1_5'UTR|TBC1D25_uc004dkc.1_5'UTR|TBC1D25_uc011mmb.1_Missense_Mutation_p.R225C|TBC1D25_uc011mmc.1_5'UTR|TBC1D25_uc011mmd.1_5'UTR NM_002536 NP_002527 Q3MII6 TBC25_HUMAN TBC1 domain family, member 25 221 intracellular Rab GTPase activator activity ovary(1) 1 CGAGGAGTTGCGCCTGCGGAT 0.582 NA 4 41 0 0 0 0 GNL3L 54552 broad.mit.edu 37 X 54574764 54574764 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:54574764C>T uc004dth.1 + 9 872 c.733C>T c.(733-735)CGC>TGC p.R245C GNL3L_uc004dti.2_RNA NM_019067 NP_061940 Q9NVN8 GNL3L_HUMAN guanine nucleotide binding protein-like 3 245 ribosome biogenesis nucleolus GTP binding ovary(1) 1 GAACTATTGCCGCCTTGGTGA 0.542 NA 5 75 0 0 0 0 FAM123B 139285 broad.mit.edu 37 X 63412011 63412011 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:63412011C>G uc004dvo.2 - 2 1429 c.1156G>C c.(1156-1158)GAA>CAA p.E386Q NM_152424 NP_689637 Q5JTC6 F123B_HUMAN family with sequence similarity 123B 386 Glu-rich. Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane p.0?(40) kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1) 112 tccacctcttcttcctcttct 0.348 NA 12 158 0 0 0 0 HEPH 9843 broad.mit.edu 37 X 65413477 65413477 + Missense_Mutation SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:65413477C>A uc011moz.1 + 8 1435 c.1375C>A c.(1375-1377)CTG>ATG p.L459M HEPH_uc004dwn.2_Missense_Mutation_p.L459M|HEPH_uc004dwo.2_Missense_Mutation_p.L189M|HEPH_uc010nkr.2_Missense_Mutation_p.L459M|HEPH_uc011mpa.1_Missense_Mutation_p.L459M NM_138737 NP_620074 Q9BQS7 HEPH_HUMAN hephaestin isoform a 456 Extracellular (Potential).|Plastocyanin-like 3. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity lung(5)|ovary(4) 9 TCTTGGAATCCTGGGTGAGGA 0.418 NA 11 79 4.69e-08 5e-08 1 0 EDA 1896 broad.mit.edu 37 X 69255292 69255292 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:69255292G>A uc004dxs.2 + 8 1251 c.1009G>A c.(1009-1011)GAG>AAG p.E337K EDA_uc004dxr.2_Missense_Mutation_p.E335K|EDA_uc011mpj.1_Missense_Mutation_p.E332K NM_001399 NP_001390 Q92838 EDA_HUMAN ectodysplasin A isoform EDA-A1 337 Extracellular (Potential). cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction collagen|cytoskeleton|membrane fraction tumor necrosis factor receptor binding ovary(2)|large_intestine(1) 3 ACGCAGCATCGAGACGGGCAA 0.552 NA 9 58 0 0 0 0 KIF4A 24137 broad.mit.edu 37 X 69639936 69639936 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:69639936G>A uc004dyg.2 + 31 3647 c.3520G>A c.(3520-3522)GAG>AAG p.E1174K KIF4A_uc010nkw.2_Missense_Mutation_p.E1174K NM_012310 NP_036442 O95239 KIF4A_HUMAN kinesin family member 4 1174 Globular.|Interaction with PRC1. anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization chromosome|cytosol|midbody|nuclear matrix|spindle microtubule ATP binding|DNA binding|microtubule motor activity|protein binding ovary(4) 4 GTGCGATGTGGAGCAGGTGCT 0.507 NA 8 59 0 0 0 0 DLG3 1741 broad.mit.edu 37 X 69722041 69722041 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:69722041G>C uc004dyi.1 + 19 2704 c.2376G>C c.(2374-2376)GAG>GAC p.E792D DLG3_uc004dyj.1_Missense_Mutation_p.E487D|DLG3_uc011mpn.1_Missense_Mutation_p.E340D NM_021120 NP_066943 Q92796 DLG3_HUMAN synapse-associated protein 102 isoform a 792 Guanylate kinase-like. axon guidance|negative regulation of cell proliferation|synaptic transmission plasma membrane guanylate kinase activity large_intestine(1)|pancreas(1) 2 Renal(35;0.156) CACTGGAAGAGATTTATAACA 0.443 NA 4 52 0 0 0 0 ZMYM3 9203 broad.mit.edu 37 X 70472945 70472945 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:70472945G>A uc004dzh.1 - 2 248 c.161C>T c.(160-162)TCG>TTG p.S54L BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.S54L|ZMYM3_uc004dzj.1_Missense_Mutation_p.S54L|ZMYM3_uc011mpu.1_5'Flank|ZMYM3_uc004dzk.3_Missense_Mutation_p.S54L|ZMYM3_uc004dzl.3_Missense_Mutation_p.S54L|ZMYM3_uc004dzm.3_Missense_Mutation_p.S54L NM_201599 NP_963893 Q14202 ZMYM3_HUMAN zinc finger protein 261 54 multicellular organismal development nucleus DNA binding|zinc ion binding ovary(1) 1 Renal(35;0.156) CAGGGCTCCCGAGGATGGAGA 0.607 NA OREG0019858 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 51 0 0 0 0 KIAA2022 340533 broad.mit.edu 37 X 73960813 73960813 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:73960813C>G uc004eby.2 - 3 4196 c.3579G>C c.(3577-3579)CAG>CAC p.Q1193H NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 1193 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 TGGTGTTTTTCTGAGAAGAGC 0.428 NA 17 257 0 0 0 0 ATRX 546 broad.mit.edu 37 X 76937131 76937131 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:76937131G>C uc004ecp.3 - 9 3849 c.3617C>G c.(3616-3618)TCT>TGT p.S1206C ATRX_uc004ecq.3_Missense_Mutation_p.S1168C|ATRX_uc004eco.3_Missense_Mutation_p.S991C|ATRX_uc004ecr.2_Missense_Mutation_p.S1138C|ATRX_uc010nlx.1_Missense_Mutation_p.S1177C|ATRX_uc010nly.1_Missense_Mutation_p.S1151C NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 1206 Poly-Ser. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) TTCTATATCAGAAGAAGATGA 0.378 NA Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome 13 320 0 0 0 0 TAF9B 51616 broad.mit.edu 37 X 77395061 77395061 + Silent SNP G G T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:77395061G>T uc004eda.2 - 1 119 c.48C>A c.(46-48)GCC>GCA p.A16A NM_015975 NP_057059 Q9HBM6 TAF9B_HUMAN transcription associated factor 9B 16 negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding 0 CACTTACCAAGGCATCTCTCG 0.657 NA 15 222 4.15e-12 4.55e-12 1 0 BRWD3 254065 broad.mit.edu 37 X 79999689 79999689 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:79999689G>A uc004edt.2 - 8 918 c.655C>T c.(655-657)CGT>TGT p.R219C BRWD3_uc004edo.2_5'UTR|BRWD3_uc004edp.2_Missense_Mutation_p.R48C|BRWD3_uc004edq.2_5'UTR|BRWD3_uc010nmj.1_5'UTR|BRWD3_uc004edr.2_5'UTR|BRWD3_uc004eds.2_5'UTR|BRWD3_uc004edu.2_5'UTR|BRWD3_uc004edv.2_5'UTR|BRWD3_uc004edw.2_5'UTR|BRWD3_uc004edx.2_5'UTR|BRWD3_uc004edy.2_5'UTR|BRWD3_uc004edz.2_5'UTR|BRWD3_uc004eea.2_5'UTR|BRWD3_uc004eeb.2_Intron NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 219 WD 2. ovary(4) 4 GAGTGTCCACGAAGTGTAGCA 0.403 NA 12 174 0 0 0 0 SYTL4 94121 broad.mit.edu 37 X 99956326 99956326 + Splice_Site SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:99956326C>T uc004egd.3 - 6 683 c.327_splice c.e6-1 p.I109_splice SYTL4_uc010nnc.2_Splice_Site_p.I109_splice|SYTL4_uc004ege.3_Splice_Site_p.I109_splice|SYTL4_uc004egf.3_Splice_Site_p.I109_splice|SYTL4_uc004egg.3_Splice_Site_p.I109_splice NM_080737 NP_542775 Q96C24 SYTL4_HUMAN synaptotagmin-like 4 exocytosis|intracellular protein transport extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding ovary(2) 2 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CTTCAACTCTCTGGGAAGAAA 0.458 NA 6 70 0 0 0 0 RAB40AL 282808 broad.mit.edu 37 X 102192729 102192729 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:102192729C>G uc004ejs.2 + 1 530 c.483C>G c.(481-483)TTC>TTG p.F161L NM_001031834 NP_001027004 P0C0E4 RB40L_HUMAN RAB40A, member RAS oncogene family-like 161 protein transport|small GTPase mediated signal transduction mitochondrion|plasma membrane GTP binding ovary(2) 2 TGTGCAATTTCAACATCATAG 0.592 NA 6 100 0 0 0 0 GLRA4 441509 broad.mit.edu 37 X 102979153 102979153 + Missense_Mutation SNP G G T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:102979153G>T uc011mse.1 - 4 768 c.347C>A c.(346-348)TCT>TAT p.S116Y GLRA4_uc010nou.2_Missense_Mutation_p.S116Y NM_001024452 NP_001019623 Q5JXX5 GLRA4_HUMAN glycine receptor, alpha 4 precursor 116 Extracellular (Potential). cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity 0 GAGGTCCAGAGAGTCATCAGG 0.547 NA 24 243 1.85e-09 2.01e-09 1 0 NRK 203447 broad.mit.edu 37 X 105152976 105152976 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:105152976C>T uc004emd.2 + 13 1646 c.1343C>T c.(1342-1344)CCA>CTA p.P448L NRK_uc010npc.1_Missense_Mutation_p.P116L NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Nik related kinase 448 Gln-rich. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1) 14 GTGTTCATGCCACTACAGGCT 0.557 NA HNSCC(51;0.14) 10 70 0 0 0 0 PRPS1 5631 broad.mit.edu 37 X 106885676 106885676 + Missense_Mutation SNP G G T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:106885676G>T uc004ene.3 + 4 691 c.486G>T c.(484-486)TGG>TGT p.W162C PRPS1_uc010npg.2_Missense_Mutation_p.W129C|PRPS1_uc011msj.1_Intron NM_002764 NP_002755 P60891 PRPS1_HUMAN phosphoribosyl pyrophosphate synthetase 1 162 5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process cytosol ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity breast(3)|large_intestine(1) 4 TCTCTGAGTGGAGGAACTGCA 0.433 NA 21 203 2.38e-13 2.61e-13 1 0 MID2 11043 broad.mit.edu 37 X 107084402 107084402 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:107084402G>A uc004enl.2 + 2 1080 c.507G>A c.(505-507)ACG>ACA p.T169T MID2_uc004enk.2_Silent_p.T169T NM_012216 NP_036348 Q9UJV3 TRIM1_HUMAN midline 2 isoform 1 169 B box-type 1; degenerate. centrosome|microtubule ligase activity|zinc ion binding ovary(1) 1 TGCGGGCCACGCACCCCAACA 0.552 NA 8 72 0 0 0 0 KCNE1L 23630 broad.mit.edu 37 X 108868222 108868222 + Nonsense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:108868222G>A uc004eoh.2 - 1 172 c.28C>T c.(28-30)CGA>TGA p.R10* NM_012282 NP_036414 Q9UJ90 KCE1L_HUMAN potassium voltage-gated channel, Isk-related 10 regulation of heart contraction voltage-gated potassium channel complex 0 AGAAGGGTTCGCAGCCGCTGG 0.682 NA 3 17 0 0 0 0 ALG13 79868 broad.mit.edu 37 X 110924449 110924449 + Missense_Mutation SNP G G T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:110924449G>T uc011msy.1 + 1 37 c.3G>T c.(1-3)ATG>ATT p.M1I ALG13_uc004epi.1_Missense_Mutation_p.M1I|ALG13_uc011msw.1_5'UTR|ALG13_uc011msx.1_5'UTR|ALG13_uc011msz.1_5'UTR|ALG13_uc011mta.1_5'UTR|ALG13_uc011mtb.1_5'UTR Q9NP73 ALG13_HUMAN SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae); 1 dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity lung(1) 1 CCCGCGCCATGAAGTGCGTGT 0.602 NA 27 327 9.04e-19 9.99e-19 1 0 DOCK11 139818 broad.mit.edu 37 X 117758580 117758580 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:117758580C>G uc004eqp.2 + 32 3613 c.3550C>G c.(3550-3552)CGA>GGA p.R1184G DOCK11_uc004eqq.2_Missense_Mutation_p.R963G NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1184 blood coagulation cytosol GTP binding ovary(3) 3 ATTAGCAGGTCGAGATACCTT 0.358 NA 28 365 0 0 0 0 SEPT6 23157 broad.mit.edu 37 X 118786948 118786948 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:118786948C>G uc004erv.2 - 4 662 c.397G>C c.(397-399)GAG>CAG p.E133Q SEPT6_uc010nqk.2_RNA|SEPT6_uc004ers.2_Missense_Mutation_p.E133Q|SEPT6_uc004ert.2_Missense_Mutation_p.E133Q|SEPT6_uc004eru.2_Missense_Mutation_p.E133Q|SEPT6_uc004erw.2_Missense_Mutation_p.E75Q|SEPT6_uc011mtv.1_Missense_Mutation_p.E75Q|SEPT6_uc011mtw.1_Missense_Mutation_p.E163Q NM_015129 NP_055944 Q14141 SEPT6_HUMAN septin 6 isoform B 133 cell cycle|cytokinesis|interspecies interaction between organisms cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle GTP binding|protein binding lung(1)|ovary(1)|prostate(1)|kidney(1) 4 ATCTTTAGCTCTTCCTGCAGG 0.507 NA 14 145 0 0 0 0 CT47B1 643311 broad.mit.edu 37 X 120009419 120009419 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:120009419C>T uc011muc.1 - 1 361 c.106G>A c.(106-108)GGC>AGC p.G36S NM_001145718 NP_001139190 P0C2W7 CT47B_HUMAN cancer/testis antigen family 147, member B1 36 0 CCGGAGTCGCCGCCCTCCTGG 0.731 NA 13 104 0 0 0 0 THOC2 57187 broad.mit.edu 37 X 122758480 122758480 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:122758480T>C uc004etu.2 - 26 3130 c.3098A>G c.(3097-3099)GAA>GGA p.E1033G THOC2_uc004etw.1_5'Flank NM_001081550 NP_001075019 Q8NI27 THOC2_HUMAN THO complex 2 1033 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding ovary(3) 3 GGCTTCATTTTCAGTACAGCT 0.348 NA 17 350 0 0 0 0 ACTRT1 139741 broad.mit.edu 37 X 127185700 127185700 + Silent SNP G G T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:127185700G>T uc004eum.2 - 1 683 c.486C>A c.(484-486)GTC>GTA p.V162V NM_138289 NP_612146 Q8TDG2 ACTT1_HUMAN actin-related protein T1 162 cytoplasm|cytoskeleton ovary(2)|central_nervous_system(2)|skin(1) 5 CAGTGCAAGTGACCCCATCTC 0.582 NA 14 293 3.27e-08 3.5e-08 1 0 SLC25A14 9016 broad.mit.edu 37 X 129483264 129483264 + Silent SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:129483264C>A uc004evn.1 + 5 570 c.357C>A c.(355-357)ACC>ACA p.T119T SLC25A14_uc011mut.1_Silent_p.T84T|SLC25A14_uc011muu.1_Silent_p.T119T|SLC25A14_uc010nrg.2_Silent_p.T116T|SLC25A14_uc004evo.1_5'UTR|SLC25A14_uc004evp.1_Silent_p.T119T|SLC25A14_uc004evq.1_Silent_p.T116T|SLC25A14_uc004evr.1_Silent_p.T116T NM_003951 NP_003942 O95258 UCP5_HUMAN solute carrier family 25, member 14 isoform 119 Solcar 1.|Helical; Name=2; (Potential). aerobic respiration|mitochondrial transport integral to plasma membrane|mitochondrial inner membrane binding ovary(1) 1 CATATGGCACCATTAAAATTG 0.343 NA 11 130 0.00829132 0.00840967 1 0 IGSF1 3547 broad.mit.edu 37 X 130409661 130409661 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:130409661C>T uc004ewd.2 - 16 3213 c.2975G>A c.(2974-2976)CGA>CAA p.R992Q IGSF1_uc004ewe.3_Missense_Mutation_p.R986Q|IGSF1_uc004ewf.2_Missense_Mutation_p.R972Q NM_001555 NP_001546 Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 isoform 1 992 Extracellular (Potential).|Ig-like C2-type 10. 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 GACCGGCCCTCGGCACCAGAG 0.522 NA 17 228 0 0 0 0 CD40LG 959 broad.mit.edu 37 X 135741392 135741392 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:135741392G>C uc004faa.2 + 5 676 c.604G>C c.(604-606)GAG>CAG p.E202Q CD40LG_uc010nsd.2_Missense_Mutation_p.E181Q NM_000074 NP_000065 P29965 CD40L_HUMAN CD40 ligand 202 Extracellular (Potential). anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production extracellular space|integral to plasma membrane|soluble fraction CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding skin(1) 1 Acute lymphoblastic leukemia(192;0.000127) Atorvastatin(DB01076) CGGTAGATTCGAGAGAATCTT 0.483 NA Immune_Deficiency_with_Hyper-IgM 55 494 0 0 0 0 SOX3 6658 broad.mit.edu 37 X 139586056 139586056 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:139586056C>T uc004fbd.1 - 1 1170 c.1170G>A c.(1168-1170)CAG>CAA p.Q390Q NM_005634 NP_005625 P41225 SOX3_HUMAN SRY (sex determining region Y)-box 3 390 face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent nucleus DNA binding pancreas(1) 1 Acute lymphoblastic leukemia(192;7.65e-05) GGCACGCGCGCTGAGAGTGCG 0.647 NA 4 13 0 0 0 0 MAGEA8 4107 broad.mit.edu 37 X 149013598 149013598 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:149013598C>T uc004fdw.1 + 3 767 c.552C>T c.(550-552)TGC>TGT p.C184C NM_005364 NP_005355 P43361 MAGA8_HUMAN melanoma antigen family A, 8 184 MAGE. 0 Acute lymphoblastic leukemia(192;6.56e-05) TTGTCACCTGCCTGGGCCTCT 0.552 NA 6 102 0 0 0 0 FLNA 2316 broad.mit.edu 37 X 153577807 153577807 + Missense_Mutation SNP A A G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:153577807A>G uc004fkk.2 - 47 7928 c.7679T>C c.(7678-7680)GTG>GCG p.V2560A FLNA_uc004fki.2_Missense_Mutation_p.V600A|FLNA_uc011mzn.1_Missense_Mutation_p.V693A|FLNA_uc010nuu.1_Missense_Mutation_p.V2552A NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 2560 Self-association site, tail.|Filamin 24. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CTTGGCCACCACCTTGCTGGC 0.652 NA 17 176 0 0 0 0 NPHP4 261734 broad.mit.edu 37 1 5964821 5964822 + Frame_Shift_Del DEL AC AC - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:5964821_5964822delAC uc001alq.1 - 16 2264_2265 c.1998_1999delGT c.(1996-2001)GTGTATfs p.V666fs NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_RNA|NPHP4_uc001alt.1_RNA|NPHP4_uc009vlu.1_RNA NM_015102 NP_055917 O75161 NPHP4_HUMAN nephroretinin 666_667 actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior cell-cell junction|centrosome|cilium|microtubule basal body protein binding|structural molecule activity pancreas(1) 1 Ovarian(185;0.0634) all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213) Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649) AAGGTGAAATACACAGTCTTTG 0.589 NA 11 111 --- --- --- --- NA NA NA NA RPL22 6146 broad.mit.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T T - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:6257785delT uc001amd.2 - 2 90 c.44delA c.(43-45)AAGfs p.K15fs RPL22_uc001ame.2_Frame_Shift_Del_p.K15fs NM_000983 NP_000974 P35268 RL22_HUMAN ribosomal protein L22 proprotein 15 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit heparin binding|RNA binding|structural constituent of ribosome 0 Ovarian(185;0.0634) all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211) Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182) AACTTGCTTCTTTTTTTTGCC 0.398 NA T RUNX1 AML|CML 10 83 --- --- --- --- NA NA NA NA PHF13 148479 broad.mit.edu 37 1 6680128 6680128 + Frame_Shift_Del DEL G G - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:6680128delG uc001aob.3 + 3 778 c.407delG c.(406-408)AGGfs p.R136fs NM_153812 NP_722519 Q86YI8 PHF13_HUMAN PHD finger protein 13 136 cell division|chromatin modification|mitotic chromosome condensation nucleoplasm chromatin binding|methylated histone residue binding|zinc ion binding 0 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642) GAGGGGTACAGGGGGGGCTTG 0.522 NA 10 111 --- --- --- --- NA NA NA NA C1orf141 400757 broad.mit.edu 37 1 67592911 67592911 + Frame_Shift_Del DEL T T - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:67592911delT uc001ddl.1 - 2 124 c.13delA c.(13-15)ATCfs p.I5fs C1orf141_uc001ddm.1_Frame_Shift_Del_p.I5fs|C1orf141_uc001ddn.1_RNA NM_001013674 NP_001013696 Q5JVX7 CA141_HUMAN hypothetical protein LOC400757 5 ovary(1) 1 TTCTCTAGGATTTTTTCTGCC 0.313 NA 15 218 --- --- --- --- NA NA NA NA GNG12 55970 broad.mit.edu 37 1 68171151 68171151 + Frame_Shift_Del DEL T T - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:68171151delT uc001dea.1 - 4 394 c.202delA c.(202-204)ACTfs p.T68fs NM_018841 NP_061329 Q9UBI6 GBG12_HUMAN G-protein gamma-12 subunit precursor 68 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission heterotrimeric G-protein complex signal transducer activity 0 ATGATGCAAGTTTTTTTATCC 0.438 NA 31 217 --- --- --- --- NA NA NA NA SYT6 148281 broad.mit.edu 37 1 114641761 114641761 + Frame_Shift_Del DEL T T - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:114641761delT uc001eev.2 - 5 1314 c.1064delA c.(1063-1065)AACfs p.N355fs SYT6_uc001eeu.2_5'UTR NM_205848 NP_995320 Q5T7P8 SYT6_HUMAN synaptotagmin VI 440 Cytoplasmic (Potential).|C2 2. acrosomal vesicle exocytosis cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Lung SC(450;0.184) all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-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) TTGATCCATGTTTTCCGGGGG 0.488 NA 28 309 --- --- --- --- NA NA NA NA ZBTB7B 51043 broad.mit.edu 37 1 154987396 154987397 + Frame_Shift_Del DEL GT GT - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:154987396_154987397delGT uc001fgk.3 + 3 418_419 c.260_261delGT c.(259-261)GGTfs p.G87fs ZBTB7B_uc009wpa.2_Frame_Shift_Del_p.G87fs|ZBTB7B_uc001fgj.3_Frame_Shift_Del_p.G121fs|ZBTB7B_uc010peq.1_Frame_Shift_Del_p.G121fs|ZBTB7B_uc001fgl.3_Frame_Shift_Del_p.G87fs NM_015872 NP_056956 O15156 ZBT7B_HUMAN zinc finger and BTB domain containing 7B 87 BTB. cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding 0 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GCAGGGGCCGGTGTGTGTGAGC 0.629 NA 8 70 --- --- --- --- NA NA NA NA IQGAP3 128239 broad.mit.edu 37 1 156521543 156521543 + Frame_Shift_Del DEL G G - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:156521543delG uc001fpf.2 - 15 1763 c.1688delC c.(1687-1689)CCTfs p.P563fs IQGAP3_uc009wsb.1_Frame_Shift_Del_p.P520fs NM_178229 NP_839943 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 563 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) ATGGTACCGAGGGGCGACAGG 0.562 NA 10 86 --- --- --- --- NA NA NA NA NMNAT2 23057 broad.mit.edu 37 1 183255842 183255842 + Frame_Shift_Del DEL G G - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:183255842delG uc001gqc.1 - 5 738 c.403delC c.(403-405)CAGfs p.Q135fs NMNAT2_uc001gqb.1_Frame_Shift_Del_p.Q130fs|NMNAT2_uc001gqd.2_Frame_Shift_Del_p.Q30fs NM_015039 NP_055854 Q9BZQ4 NMNA2_HUMAN nicotinamide mononucleotide adenylyltransferase 135 water-soluble vitamin metabolic process Golgi membrane|nucleus ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity skin(1) 1 TAAATGGGCTGGGGGGTCTCG 0.453 NA 8 117 --- --- --- --- NA NA NA NA NCF2 4688 broad.mit.edu 37 1 183543721 183543723 + In_Frame_Del DEL CTT CTT - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:183543721_183543723delCTT uc001gqj.3 - 4 675_677 c.400_402delAAG c.(400-402)AAGdel p.K134del NCF2_uc010pod.1_Intron|NCF2_uc010poe.1_Intron|NCF2_uc001gqk.3_In_Frame_Del_p.K134del NM_000433 NP_000424 P19878 NCF2_HUMAN neutrophil cytosolic factor 2 134 TPR 3. cellular defense response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex|nucleolus electron carrier activity|protein C-terminus binding ovary(3) 3 TCCATTCCTCCTTCTTGGCATAC 0.448 NA 14 192 --- --- --- --- NA NA NA NA ZNF124 7678 broad.mit.edu 37 1 247319909 247319909 + Frame_Shift_Del DEL T T - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:247319909delT uc001ick.2 - 4 1154 c.1015delA c.(1015-1017)ACTfs p.T339fs ZNF124_uc001ici.2_Intron|ZNF124_uc001icj.1_Frame_Shift_Del_p.T277fs NM_003431 NP_003422 Q15973 ZN124_HUMAN zinc finger protein 124 339 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053) OV - Ovarian serous cystadenocarcinoma(106;0.00739) CCAGTATGAGTTTTTTTATGC 0.368 NA 12 128 --- --- --- --- NA NA NA NA OR14C36 127066 broad.mit.edu 37 1 248512384 248512384 + Frame_Shift_Del DEL T T - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:248512384delT uc010pzl.1 + 1 308 c.308delT c.(307-309)GTTfs p.V103fs NM_001001918 NP_001001918 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, 103 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 TTCCTCGTGGTTTTTTTTGTA 0.478 NA 8 98 --- --- --- --- NA NA NA NA GJD4 219770 broad.mit.edu 37 10 35897554 35897554 + Frame_Shift_Del DEL A A - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr10:35897554delA uc001iyy.1 + 2 1271 c.1113delA c.(1111-1113)TGAfs p.*371fs NM_153368 NP_699199 Q96KN9 CXD4_HUMAN connexin40.1 371 cell communication connexon complex|integral to membrane large_intestine(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 AGTGGGTGTGAAAAAAACAGC 0.433 NA 3 5 --- --- --- --- NA NA NA NA HECTD2 143279 broad.mit.edu 37 10 93247481 93247481 + Frame_Shift_Del DEL A A - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr10:93247481delA uc001khl.2 + 11 1237 c.1137delA c.(1135-1137)GCAfs p.A379fs LOC100188947_uc010qnl.1_Intron|HECTD2_uc010qnm.1_Frame_Shift_Del_p.A383fs|HECTD2_uc001khm.2_RNA|HECTD2_uc009xty.1_Intron|HECTD2_uc001khn.1_Frame_Shift_Del_p.A29fs NM_182765 NP_877497 Q5U5R9 HECD2_HUMAN HECT domain containing 2 isoform a 379 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity skin(1) 1 CTGTAGCTGCAAAAAAAATCA 0.318 NA 8 220 --- --- --- --- NA NA NA NA ZDHHC16 84287 broad.mit.edu 37 10 99215505 99215507 + In_Frame_Del DEL AAG AAG - rs146287872 byFrequency TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr10:99215505_99215507delAAG uc001knj.2 + 10 1262_1264 c.913_915delAAG c.(913-915)AAGdel p.K306del ZDHHC16_uc001knp.2_In_Frame_Del_p.K236del|ZDHHC16_uc001knk.2_In_Frame_Del_p.K306del|ZDHHC16_uc001knl.2_In_Frame_Del_p.K290del|ZDHHC16_uc001knm.2_In_Frame_Del_p.K225del|ZDHHC16_uc001knn.2_In_Frame_Del_p.K267del|ZDHHC16_uc010qow.1_In_Frame_Del_p.K288del|ZDHHC16_uc009xvq.2_RNA|ZDHHC16_uc001kno.2_In_Frame_Del_p.K272del|ZDHHC16_uc009xvr.2_In_Frame_Del_p.K297del NM_198046 NP_932163 Q969W1 ZDH16_HUMAN Abl-philin 2 isoform 1 306 Cytoplasmic (Potential). apoptosis endoplasmic reticulum membrane|integral to membrane acyltransferase activity|zinc ion binding ovary(1) 1 Colorectal(252;0.0846) Epithelial(162;5.81e-10)|all cancers(201;4.19e-08) GCACATCAACAAGAAGGAGAGAC 0.532 NA 13 199 --- --- --- --- NA NA NA NA DPYSL4 10570 broad.mit.edu 37 10 134000594 134000594 + Frame_Shift_Del DEL C C - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr10:134000594delC uc009ybb.2 + 1 181 c.27delC c.(25-27)ATCfs p.I9fs NM_006426 NP_006417 O14531 DPYL4_HUMAN dihydropyrimidinase-like 4 9 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides central_nervous_system(2) 2 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) AGAAAAGCATCCCCCGGATCA 0.502 NA 4 6 --- --- --- --- NA NA NA NA MUC5B 727897 broad.mit.edu 37 11 1269737 1269737 + Frame_Shift_Del DEL C C - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:1269737delC uc009ycr.1 + 50 13337 c.13211delC c.(13210-13212)ACCfs p.T4404fs MUC5B_uc001ltb.2_Frame_Shift_Del_p.T3879fs NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 3876 7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) TTCACAGTCACCCCCTCCTCC 0.647 NA 12 135 --- --- --- --- NA NA NA NA PITPNM1 9600 broad.mit.edu 37 11 67269818 67269818 + Frame_Shift_Del DEL C C - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:67269818delC uc001olx.2 - 3 549 c.360delG c.(358-360)GGGfs p.G120fs PITPNM1_uc001oly.2_Frame_Shift_Del_p.G120fs|PITPNM1_uc001olz.2_Frame_Shift_Del_p.G120fs NM_004910 NP_004901 O00562 PITM1_HUMAN phosphatidylinositol transfer protein, 120 brain development|lipid metabolic process|phototransduction|protein transport cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity lung(2)|central_nervous_system(1) 3 TTGGCTGCTGCCCCCCATCAG 0.607 NA 15 125 --- --- --- --- NA NA NA NA MOGAT2 80168 broad.mit.edu 37 11 75431143 75431143 + Frame_Shift_Del DEL G G - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:75431143delG uc010rru.1 + 2 198 c.198delG c.(196-198)CAGfs p.Q66fs MOGAT2_uc001oww.1_Frame_Shift_Del_p.Q66fs|MOGAT2_uc010rrv.1_5'UTR NM_025098 NP_079374 Q3SYC2 MOGT2_HUMAN monoacylglycerol O-acyltransferase 2 66 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity ovary(2) 2 Ovarian(111;0.103) AGCCACGGCAGGGGGGCCGGC 0.562 NA 29 448 --- --- --- --- NA NA NA NA FAT3 120114 broad.mit.edu 37 11 92533399 92533399 + Frame_Shift_Del DEL C C - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:92533399delC uc001pdj.3 + 9 7237 c.7220delC c.(7219-7221)GCCfs p.A2407fs NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 2407 Cadherin 22.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AGTGAATTAGCCCCCCGGGGC 0.443 NA TCGA Ovarian(4;0.039) 22 157 --- --- --- --- NA NA NA NA TRPC6 7225 broad.mit.edu 37 11 101362286 101362287 + Splice_Site INS - - T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:101362286_101362287insT uc001pgk.3 - 3 1553 c.1128_splice c.e3+1 p.K376_splice TRPC6_uc009ywy.2_Intron|TRPC6_uc009ywz.1_Splice_Site_p.K376_splice NM_004621 NP_004612 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) CCTGACCTTACTTTTTTTACTT 0.391 NA 10 281 --- --- --- --- NA NA NA NA EXPH5 23086 broad.mit.edu 37 11 108412381 108412381 + Frame_Shift_Del DEL T T - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:108412381delT uc001pkk.2 - 2 389 c.278delA c.(277-279)AATfs p.N93fs EXPH5_uc010rwa.1_Frame_Shift_Del_p.N17fs NM_015065 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 isoform a 93 intracellular protein transport Rab GTPase binding skin(3)|ovary(2) 5 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) TTTCTTACCATTTTTTGCCAT 0.323 NA 9 111 --- --- --- --- NA NA NA NA SORL1 6653 broad.mit.edu 37 11 121475905 121475905 + Frame_Shift_Del DEL A A - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:121475905delA uc001pxx.2 + 34 4815 c.4735delA c.(4735-4737)AAAfs p.K1579fs SORL1_uc010rzp.1_Frame_Shift_Del_p.K425fs|SORL1_uc010rzq.1_Frame_Shift_Del_p.K194fs NM_003105 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor containing LDLR class 1579 Extracellular (Potential).|Fibronectin type-III 1. 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) GATGAGGCCCAAAAAAATGCC 0.438 NA 26 210 --- --- --- --- NA NA NA NA FOXM1 2305 broad.mit.edu 37 12 2968088 2968088 + Frame_Shift_Del DEL G G - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:2968088delG uc001qlf.2 - 9 2273 c.2008delC c.(2008-2010)CTTfs p.L670fs uc001qld.2_Intron|FOXM1_uc001qle.2_Frame_Shift_Del_p.L708fs|FOXM1_uc001qlg.2_Frame_Shift_Del_p.L655fs|FOXM1_uc009zea.2_Frame_Shift_Del_p.L655fs|FOXM1_uc009zeb.2_Frame_Shift_Del_p.L654fs NM_021953 NP_068772 Q08050 FOXM1_HUMAN forkhead box M1 isoform 2 670 cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis cytoplasm|transcription factor complex DNA bending activity|DNA binding|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding central_nervous_system(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(31;0.000622) GGTGATTCAAGGGGGGGAGCA 0.577 NA 13 115 --- --- --- --- NA NA NA NA PIK3C2G 5288 broad.mit.edu 37 12 18435201 18435202 + Frame_Shift_Ins INS - - T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:18435201_18435202insT uc001rdt.2 + 2 302_303 c.186_187insT c.(184-189)ACCTTTfs p.T62fs PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Frame_Shift_Ins_p.T62fs|PIK3C2G_uc010sic.1_5'UTR NM_004570 NP_004561 O75747 P3C2G_HUMAN phosphoinositide-3-kinase, class 2 gamma 62_63 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2) 21 Hepatocellular(102;0.194) ATGAAAACACCTTTTTTGTGCC 0.406 NA 11 132 --- --- --- --- NA NA NA NA MED21 9412 broad.mit.edu 37 12 27181336 27181337 + Frame_Shift_Del DEL CA CA - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:27181336_27181337delCA uc001rhp.1 + 4 407_408 c.377_378delCA c.(376-378)GCAfs p.A126fs MED21_uc009zjh.1_RNA NM_004264 NP_004255 Q13503 MED21_HUMAN mediator complex subunit 21 126 positive regulation of transcription from RNA polymerase II promoter mediator complex DNA-directed RNA polymerase activity|transcription coactivator activity 0 Colorectal(261;0.0847) GCTGATATTGCACAGTCACAGC 0.45 NA 13 218 --- --- --- --- NA NA NA NA ZCRB1 85437 broad.mit.edu 37 12 42707703 42707703 + Frame_Shift_Del DEL T T - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:42707703delT uc001rmz.2 - 6 628 c.419delA c.(418-420)AAGfs p.K140fs PPHLN1_uc001rmy.2_Intron NM_033114 NP_149105 Q8TBF4 ZCRB1_HUMAN zinc finger CCHC-type and RNA binding motif 1 140 Poly-Lys. mRNA processing nucleoplasm|U12-type spliceosomal complex nucleotide binding|RNA binding|zinc ion binding skin(1) 1 all_cancers(12;0.000348)|Breast(8;0.221) Lung NSC(34;0.123) GBM - Glioblastoma multiforme(48;0.0689) AGGAGCTTTCTTTTTTTTCTT 0.343 NA 21 98 --- --- --- --- NA NA NA NA MLL2 8085 broad.mit.edu 37 12 49445525 49445526 + Frame_Shift_Ins INS - - G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:49445525_49445526insG uc001rta.3 - 10 1940_1941 c.1940_1941insC c.(1939-1941)CCAfs p.P647fs NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 647 15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.|14. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 ATACCTCAGGTGGGGGGGACAT 0.634 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 8 73 --- --- --- --- NA NA NA NA LRP1 4035 broad.mit.edu 37 12 57572242 57572242 + Frame_Shift_Del DEL G G - rs139915490 TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:57572242delG uc001snd.2 + 27 4928 c.4462delG c.(4462-4464)GGGfs p.G1488fs NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 1488 Extracellular (Potential).|LDL-receptor class B 11. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GACGCTGTACGGGGGGGAGGT 0.587 NA 18 149 --- --- --- --- NA NA NA NA PPM1H 57460 broad.mit.edu 37 12 63195772 63195772 + Frame_Shift_Del DEL C C - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:63195772delC uc001srk.3 - 3 729 c.580delG c.(580-582)GAGfs p.E194fs NM_020700 NP_065751 Q9ULR3 PPM1H_HUMAN protein phosphatase 1H (PP2C domain containing) 194 PP2C-like. phosphoprotein phosphatase activity lung(3)|ovary(1) 4 GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209) GBM - Glioblastoma multiforme(28;0.0126) TCAGGCTCCTCCCCCAGGCAG 0.716 NA 9 136 --- --- --- --- NA NA NA NA TMTC3 160418 broad.mit.edu 37 12 88553917 88553917 + Frame_Shift_Del DEL T T - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:88553917delT uc001tau.2 + 5 755 c.535delT c.(535-537)TTTfs p.F179fs TMTC3_uc009zsm.2_RNA NM_181783 NP_861448 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat 179 Helical; (Potential). integral to membrane binding skin(1) 1 CTTGACAGTGTTTTTAGTGGC 0.318 NA 21 272 --- --- --- --- NA NA NA NA GALNT4 8693 broad.mit.edu 37 12 89917031 89917031 + Frame_Shift_Del DEL A A - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:89917031delA uc001tbd.2 - 1 1505 c.1296delT c.(1294-1296)TTTfs p.F432fs POC1B_uc001tba.2_Intron|POC1B_uc001tbb.2_Intron|POC1B_uc001tbc.2_Intron|POC1B_uc010sun.1_Intron|GALNT4_uc001tbe.2_Frame_Shift_Del_p.F429fs|GALNT4_uc010suo.1_Frame_Shift_Del_p.F124fs NM_003774 NP_003765 Q8N4A0 GALT4_HUMAN polypeptide N-acetylgalactosaminyltransferase 4 432 Lumenal (Potential). carbohydrate metabolic process Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding 0 GTAAATTAGGAAAAACGTTTT 0.403 NA 14 168 --- --- --- --- NA NA NA NA FAM71C 196472 broad.mit.edu 37 12 100042354 100042354 + Frame_Shift_Del DEL A A - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:100042354delA uc001tgn.2 + 1 824 c.402delA c.(400-402)GTAfs p.V134fs ANKS1B_uc001tge.1_Intron|ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Intron NM_153364 NP_699195 Q8NEG0 FA71C_HUMAN hypothetical protein LOC196472 134 0 OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19) ACAACAGCGTAAAAAAACAGC 0.478 NA 14 145 --- --- --- --- NA NA NA NA TBX5 6910 broad.mit.edu 37 12 114832546 114832547 + Frame_Shift_Ins INS - - T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:114832546_114832547insT uc001tvo.2 - 6 1157_1158 c.662_663insA c.(661-663)AAGfs p.K221fs TBX5_uc001tvp.2_Frame_Shift_Ins_p.K221fs|TBX5_uc001tvq.2_Frame_Shift_Ins_p.K171fs|TBX5_uc010syv.1_Frame_Shift_Ins_p.K221fs NM_181486 NP_852259 Q99593 TBX5_HUMAN T-box 5 isoform 1 221 T-box. cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(6)|pancreas(1)|skin(1) 8 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) TCAGGCTTACCTTGTGGTTCTG 0.485 NA 8 211 --- --- --- --- NA NA NA NA KIAA0564 23078 broad.mit.edu 37 13 42461382 42461382 + Frame_Shift_Del DEL G G - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr13:42461382delG uc001uyj.2 - 6 837 c.767delC c.(766-768)CCTfs p.P256fs KIAA0564_uc001uyk.2_Frame_Shift_Del_p.P256fs NM_015058 NP_055873 A3KMH1 K0564_HUMAN hypothetical protein LOC23078 isoform a 256 extracellular region ATP binding|ATPase activity ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1) 6 Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969) AGAACGAAGAGGGGGGTCTAA 0.383 NA 9 116 --- --- --- --- NA NA NA NA SLITRK6 84189 broad.mit.edu 37 13 86368721 86368722 + Frame_Shift_Ins INS - - T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr13:86368721_86368722insT uc001vll.1 - 2 2381_2382 c.1922_1923insA c.(1921-1923)AAGfs p.K641fs SLITRK6_uc010afe.1_Intron NM_032229 NP_115605 Q9H5Y7 SLIK6_HUMAN slit and trk like 6 precursor 641 Cytoplasmic (Potential). integral to membrane large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) CTACTTGTTTCTTTTTGTATCT 0.411 NA 16 216 --- --- --- --- NA NA NA NA FANCM 57697 broad.mit.edu 37 14 45645955 45645955 + Frame_Shift_Del DEL A A - rs143681767 TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr14:45645955delA uc001wwd.3 + 14 4097 c.3998delA c.(3997-3999)CAAfs p.Q1333fs FANCM_uc010anf.2_Frame_Shift_Del_p.Q1307fs|FANCM_uc001wwe.3_Frame_Shift_Del_p.Q869fs|FANCM_uc010ang.2_Frame_Shift_Del_p.Q547fs NM_020937 NP_065988 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 1333 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding ovary(3)|lung(2)|breast(2) 7 TTACCAGTGCAAAAAAAAGTT 0.328 NA Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 13 109 --- --- --- --- NA NA NA NA MAP4K5 11183 broad.mit.edu 37 14 50930795 50930796 + Frame_Shift_Ins INS - - T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr14:50930795_50930796insT uc001wya.2 - 12 1113_1114 c.793_794insA c.(793-795)AGAfs p.R265fs MAP4K5_uc001wyb.2_Frame_Shift_Ins_p.R265fs|MAP4K5_uc010anv.1_Frame_Shift_Ins_p.R265fs NM_006575 NP_006566 Q9Y4K4 M4K5_HUMAN mitogen-activated protein kinase kinase kinase 265 Protein kinase. activation of JUN kinase activity cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity p.R265fs*8(1) large_intestine(1) 1 all_epithelial(31;0.000415)|Breast(41;0.0102) AGCAGTTGGTCTTTTTTTTGGG 0.307 NA 3 5 --- --- --- --- NA NA NA NA NID2 22795 broad.mit.edu 37 14 52481919 52481919 + Frame_Shift_Del DEL G G - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr14:52481919delG uc001wzo.2 - 15 3337 c.3103delC c.(3103-3105)CGGfs p.R1035fs NID2_uc010tqs.1_Frame_Shift_Del_p.R987fs|NID2_uc010tqt.1_Frame_Shift_Del_p.R1035fs|NID2_uc001wzp.2_Frame_Shift_Del_p.R1035fs NM_007361 NP_031387 Q14112 NID2_HUMAN nidogen 2 precursor 1035 Thyroglobulin type-1 2. basement membrane calcium ion binding|collagen binding pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1) 7 Breast(41;0.0639)|all_epithelial(31;0.123) TGGTCATCCCGGGGGGTGCCA 0.622 NA 8 162 --- --- --- --- NA NA NA NA EIF5 1983 broad.mit.edu 37 14 103805991 103805991 + Frame_Shift_Del DEL A A - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr14:103805991delA uc001ymq.2 + 10 1444 c.922delA c.(922-924)AAAfs p.K308fs EIF5_uc001ymr.2_Frame_Shift_Del_p.K308fs|EIF5_uc001yms.2_Frame_Shift_Del_p.K308fs|EIF5_uc001ymt.2_Frame_Shift_Del_p.K308fs|EIF5_uc001ymu.2_Frame_Shift_Del_p.K308fs NM_001969 NP_001960 P55010 IF5_HUMAN eukaryotic translation initiation factor 5 308 W2. regulation of translational initiation|RNA metabolic process cytosol GTP binding|GTPase activity|translation initiation factor activity pancreas(1)|breast(1)|skin(1) 3 Melanoma(154;0.155) Epithelial(46;0.182) TCACAACAACAAAAAAGCCCA 0.388 NA 16 171 --- --- --- --- NA NA NA NA C15orf39 56905 broad.mit.edu 37 15 75499804 75499804 + Frame_Shift_Del DEL C C - rs145166482 TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr15:75499804delC uc002azp.3 + 2 1735 c.1415delC c.(1414-1416)ACCfs p.T472fs C15orf39_uc002azq.3_Frame_Shift_Del_p.T472fs|C15orf39_uc002azr.3_5'Flank NM_015492 NP_056307 Q6ZRI6 CO039_HUMAN hypothetical protein LOC56905 472 0 GTTCCCTGTACCCCCCCAGCA 0.632 NA 12 129 --- --- --- --- NA NA NA NA TM6SF1 53346 broad.mit.edu 37 15 83805312 83805312 + Frame_Shift_Del DEL T T - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr15:83805312delT uc002bjp.2 + 10 1110 c.1001delT c.(1000-1002)CTTfs p.L334fs TM6SF1_uc010bmq.2_Frame_Shift_Del_p.L303fs|TM6SF1_uc002bjq.2_3'UTR|TM6SF1_uc010bmr.2_RNA|TM6SF1_uc002bjr.2_Frame_Shift_Del_p.L186fs NM_023003 NP_075379 Q9BZW5 TM6S1_HUMAN transmembrane 6 superfamily member 1 isoform 1 334 Helical; (Potential). integral to membrane ovary(1) 1 GCAAAAATCCTTTTTTTAGCA 0.368 NA 13 231 --- --- --- --- NA NA NA NA PPL 5493 broad.mit.edu 37 16 4944500 4944500 + Frame_Shift_Del DEL G G - rs147027769 TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:4944500delG uc002cyd.1 - 12 1452 c.1362delC c.(1360-1362)CCCfs p.P454fs NM_002705 NP_002696 O60437 PEPL_HUMAN periplakin 454 Spectrin 2. keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton ovary(4)|central_nervous_system(1)|skin(1) 6 CAGGGTCTGTGGGGGGGATCA 0.612 NA 7 131 --- --- --- --- NA NA NA NA PARN 5073 broad.mit.edu 37 16 14540819 14540819 + Frame_Shift_Del DEL C C - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:14540819delC uc010uzd.1 - 23 1932 c.1790delG c.(1789-1791)TGTfs p.C597fs PARN_uc010uzc.1_Frame_Shift_Del_p.C536fs|PARN_uc010uze.1_Frame_Shift_Del_p.C551fs|PARN_uc010uzf.1_Frame_Shift_Del_p.C422fs NM_002582 NP_002573 O95453 PARN_HUMAN poly(A)-specific ribonuclease (deadenylation 597 female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification cytosol|nucleolus metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding ovary(2) 2 GGGCTCTGCACAGGAATCGGT 0.488 NA 12 170 --- --- --- --- NA NA NA NA IRX5 10265 broad.mit.edu 37 16 54966679 54966680 + Frame_Shift_Del DEL AG AG - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:54966679_54966680delAG uc002ehv.2 + 2 519_520 c.519_520delAG c.(517-522)AAAGAGfs p.K173fs IRX5_uc010cca.1_Frame_Shift_Del_p.K225fs|IRX5_uc002ehw.2_Frame_Shift_Del_p.K107fs NM_005853 NP_005844 P78411 IRX5_HUMAN iroquois homeobox protein 5 173_174 Homeobox; TALE-type. response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding 0 GCCTCAAGAAAGAGAATAAAAT 0.599 NA 13 196 --- --- --- --- NA NA NA NA BCAR1 9564 broad.mit.edu 37 16 75268875 75268875 + Frame_Shift_Del DEL G G - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:75268875delG uc002fdv.2 - 5 2045 c.1922delC c.(1921-1923)CCTfs p.P641fs BCAR1_uc002fdt.2_Frame_Shift_Del_p.P94fs|BCAR1_uc002fdu.2_Frame_Shift_Del_p.P431fs|BCAR1_uc010cgu.2_Frame_Shift_Del_p.P630fs|BCAR1_uc010vna.1_Frame_Shift_Del_p.P639fs|BCAR1_uc010vnb.1_Frame_Shift_Del_p.P687fs|BCAR1_uc002fdw.2_Frame_Shift_Del_p.P641fs|BCAR1_uc010vnc.1_Frame_Shift_Del_p.P493fs|BCAR1_uc010vnd.1_Frame_Shift_Del_p.P659fs|BCAR1_uc002fdx.2_Frame_Shift_Del_p.P659fs NM_014567 NP_055382 P56945 BCAR1_HUMAN breast cancer anti-estrogen resistance 1 641 SH3-binding (Potential). actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway cytosol|focal adhesion|membrane fraction|ruffle protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity central_nervous_system(5)|breast(2)|prostate(1) 8 BRCA - Breast invasive adenocarcinoma(221;0.169) GGTGAACTTAGGGGGTGAGGG 0.657 NA 10 153 --- --- --- --- NA NA NA NA SSH2 85464 broad.mit.edu 37 17 27963208 27963208 + Frame_Shift_Del DEL A A - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:27963208delA uc002heo.1 - 14 1959 c.1959delT c.(1957-1959)TTTfs p.F653fs SSH2_uc010wbh.1_Frame_Shift_Del_p.F680fs NM_033389 NP_203747 Q76I76 SSH2_HUMAN slingshot 2 653 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity skin(2) 2 CTAGGGCACTAAAAAAGTCAA 0.502 NA 22 201 --- --- --- --- NA NA NA NA WNK4 65266 broad.mit.edu 37 17 40939870 40939870 + Frame_Shift_Del DEL G G - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:40939870delG uc002ibj.2 + 8 1837 c.1816delG c.(1816-1818)GGGfs p.G606fs WNK4_uc010wgx.1_Frame_Shift_Del_p.G270fs|WNK4_uc002ibk.1_Frame_Shift_Del_p.G378fs|WNK4_uc010wgy.1_Intron NM_032387 NP_115763 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 606 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity ovary(3)|skin(3)|stomach(1) 7 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) TCAGCCCCCTGGGGGGGTGCC 0.637 NA 11 136 --- --- --- --- NA NA NA NA XYLT2 64132 broad.mit.edu 37 17 48433967 48433967 + Frame_Shift_Del DEL C C - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:48433967delC uc002iqo.2 + 8 1687 c.1578delC c.(1576-1578)TACfs p.Y526fs XYLT2_uc010dbo.2_RNA NM_022167 NP_071450 Q9H1B5 XYLT2_HUMAN xylosyltransferase II 526 Lumenal (Potential). glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity pancreas(1) 1 Breast(11;7.18e-19) ATGGCAGCTACCCCCCCGGCA 0.602 NA 7 145 --- --- --- --- NA NA NA NA ABCA6 23460 broad.mit.edu 37 17 67079125 67079125 + Frame_Shift_Del DEL T T - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:67079125delT uc002jhw.1 - 36 4680 c.4505delA c.(4504-4506)AACfs p.N1502fs NM_080284 NP_525023 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A, member 6 1502 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1) 7 Breast(10;5.65e-12) GCCAAGTTTGTTTTTCAGGTG 0.373 NA 22 447 --- --- --- --- NA NA NA NA ZNF750 79755 broad.mit.edu 37 17 80790043 80790044 + Frame_Shift_Del DEL AG AG - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:80790043_80790044delAG uc002kga.2 - 2 598_599 c.287_288delCT c.(286-288)TCTfs p.S96fs TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron NM_024702 NP_078978 Q32MQ0 ZN750_HUMAN zinc finger protein 750 96 intracellular zinc ion binding central_nervous_system(1) 1 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) AGTCGAAGGCAGAGAGTCCATT 0.574 NA 10 148 --- --- --- --- NA NA NA NA OSBPL1A 114876 broad.mit.edu 37 18 21745097 21745097 + Frame_Shift_Del DEL T T - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr18:21745097delT uc002kve.2 - 27 2856 c.2682delA c.(2680-2682)AAAfs p.K894fs OSBPL1A_uc002kvd.2_Frame_Shift_Del_p.K381fs|OSBPL1A_uc010xbc.1_Frame_Shift_Del_p.K512fs NM_080597 NP_542164 Q9BXW6 OSBL1_HUMAN oxysterol-binding protein-like 1A isoform B 894 Potential. cholesterol metabolic process|lipid transport|vesicle-mediated transport phospholipid binding ovary(4) 4 all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17) CCTCAAGTCGTTTTTTTTCTT 0.458 NA 13 347 --- --- --- --- NA NA NA NA MIER2 54531 broad.mit.edu 37 19 308884 308886 + In_Frame_Del DEL GTA GTA - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:308884_308886delGTA uc002lok.1 - 11 1033_1035 c.1024_1026delTAC c.(1024-1026)TACdel p.Y342del NM_017550 NP_060020 Q8N344 MIER2_HUMAN mesoderm induction early response 1, family 342 SANT. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCTTCCACAGGTAGTAGTACTCG 0.67 NA 11 168 --- --- --- --- NA NA NA NA TMPRSS9 360200 broad.mit.edu 37 19 2422029 2422030 + Frame_Shift_Ins INS - - T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:2422029_2422030insT uc010xgx.1 + 13 2230_2231 c.2230_2231insT c.(2230-2232)CCCfs p.P744fs NM_182973 NP_892018 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 744 Extracellular (Potential). proteolysis integral to plasma membrane serine-type endopeptidase activity ovary(1)|central_nervous_system(1) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCCCATGTCTCCCCCCTCGACC 0.663 NA 10 162 --- --- --- --- NA NA NA NA GIPC3 126326 broad.mit.edu 37 19 3586543 3586543 + Frame_Shift_Del DEL G G - rs8113232 byFrequency TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:3586543delG uc002lyd.3 + 2 303 c.276delG c.(274-276)CTGfs p.L92fs NM_133261 NP_573568 Q8TF64 GIPC3_HUMAN GIPC PDZ domain containing family, member 3 92 breast(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18) AGAAGCTCCTGGGGGGTCAGA 0.577 NA OREG0025154 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 174 --- --- --- --- NA NA NA NA DEDD2 162989 broad.mit.edu 37 19 42713983 42713983 + Frame_Shift_Del DEL G G - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:42713983delG uc002osu.1 - 4 526 c.458delC c.(457-459)CCAfs p.P153fs DEDD2_uc002osv.1_RNA|DEDD2_uc002osw.1_Frame_Shift_Del_p.P148fs|DEDD2_uc002osx.1_Frame_Shift_Del_p.Q37fs|DEDD2_uc002osy.1_Frame_Shift_Del_p.P153fs|DEDD2_uc010eid.2_RNA NM_133328 NP_579874 Q8WXF8 DEDD2_HUMAN death effector domain-containing DNA binding 153 activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|RNA processing|rRNA catabolic process|transcription, DNA-dependent nucleolus DNA binding|receptor signaling complex scaffold activity 0 Prostate(69;0.0704) CCGCTTGGTTGGGGGGGAGCC 0.662 NA 15 67 --- --- --- --- NA NA NA NA BCAM 4059 broad.mit.edu 37 19 45322440 45322440 + Frame_Shift_Del DEL G G - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:45322440delG uc002ozu.2 + 11 1508 c.1464delG c.(1462-1464)TTGfs p.L488fs BCAM_uc002ozt.1_Frame_Shift_Del_p.L488fs NM_005581 NP_005572 P50895 BCAM_HUMAN basal cell adhesion molecule isoform 1 488 Extracellular (Potential).|Ig-like C2-type 3. cell-matrix adhesion integral to plasma membrane laminin binding|laminin receptor activity skin(1) 1 Lung NSC(12;0.000789)|all_lung(12;0.00218) Ovarian(192;0.0728)|all_neural(266;0.112) GGAGCCAATTGGGGGGCAGCG 0.597 NA 9 177 --- --- --- --- NA NA NA NA GRLF1 2909 broad.mit.edu 37 19 47424760 47424760 + Frame_Shift_Del DEL A A - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:47424760delA uc010ekv.2 + 1 2828 c.2828delA c.(2827-2829)GAAfs p.E943fs NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN glucocorticoid receptor DNA binding factor 1 943 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity central_nervous_system(1) 1 all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077) all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289) GATGTGGTGGAAAAAAAGAAC 0.473 NA 12 169 --- --- --- --- NA NA NA NA EHD2 30846 broad.mit.edu 37 19 48244287 48244287 + Frame_Shift_Del DEL G G - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:48244287delG uc002phj.3 + 6 1480 c.1230delG c.(1228-1230)CAGfs p.Q410fs EHD2_uc010xyu.1_Frame_Shift_Del_p.Q274fs|EHD2_uc010xyv.1_Frame_Shift_Del_p.Q93fs NM_014601 NP_055416 Q9NZN4 EHD2_HUMAN EH-domain containing 2 410 blood coagulation|endocytic recycling nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding ovary(1)|skin(1) 2 all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537) TGGGCGTGCAGGGGGGCGCTT 0.677 NA 9 95 --- --- --- --- NA NA NA NA CLEC11A 6320 broad.mit.edu 37 19 51228371 51228372 + Frame_Shift_Ins INS - - G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:51228371_51228372insG uc002psy.2 + 4 797_798 c.619_620insG c.(619-621)CGGfs p.R207fs NM_002975 NP_002966 Q9Y240 CLC11_HUMAN stem cell growth factor precursor 207 C-type lectin. 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) GTGCACGGCGCGGGGCGGGAGC 0.738 NA 2 4 --- --- --- --- NA NA NA NA CNOT3 4849 broad.mit.edu 37 19 54649671 54649671 + Frame_Shift_Del DEL T T - rs36665 byFrequency TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:54649671delT uc002qdj.1 + 9 1040 c.729delT c.(727-729)CCCfs p.P243fs CNOT3_uc010yel.1_Frame_Shift_Del_p.P243fs|CNOT3_uc002qdi.2_Frame_Shift_Del_p.P156fs|CNOT3_uc002qdk.1_Frame_Shift_Del_p.P243fs|CNOT3_uc010ere.1_RNA NM_014516 NP_055331 O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 243 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CCACCTCCCCTCCCAGCCACA 0.632 NA 9 100 --- --- --- --- NA NA NA NA SOS1 6654 broad.mit.edu 37 2 39222520 39222520 + Frame_Shift_Del DEL T T - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:39222520delT uc002rrk.3 - 20 3131 c.3090delA c.(3088-3090)AAAfs p.K1030fs SOS1_uc002rrj.3_Frame_Shift_Del_p.K644fs NM_005633 NP_005624 Q07889 SOS1_HUMAN son of sevenless homolog 1 1030 apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity ovary(4)|breast(3)|lung(2)|central_nervous_system(1) 10 all_hematologic(82;0.21) GATAGCTATATTTTTTTGGCT 0.388 NA Noonan_syndrome 7 186 --- --- --- --- NA NA NA NA MSH2 4436 broad.mit.edu 37 2 47639588 47639588 + Frame_Shift_Del DEL A A - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:47639588delA uc002rvy.1 + 4 749 c.681delA c.(679-681)AGAfs p.R227fs MSH2_uc010yoh.1_Frame_Shift_Del_p.R161fs|MSH2_uc002rvz.2_Frame_Shift_Del_p.R227fs|MSH2_uc010fbg.2_Frame_Shift_Del_p.R87fs|MSH2_uc010fbf.1_Frame_Shift_Del_p.R134fs NM_000251 NP_000242 P43246 MSH2_HUMAN mutS homolog 2 227 B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes MutSalpha complex|MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding large_intestine(33)|haematopoietic_and_lymphoid_tissue(6)|endometrium(4)|ovary(3)|cervix(2)|central_nervous_system(2)|stomach(1)|small_intestine(1)|breast(1)|skin(1)|prostate(1) 55 all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TCACAGAAAGAAAAAAAGCTG 0.328 NA D|Mis|N|F|S colorectal|endometrial|ovarian colorectal|endometrial|ovarian MMR Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome 12 76 --- --- --- --- NA NA NA NA PNPT1 87178 broad.mit.edu 37 2 55894167 55894167 + Frame_Shift_Del DEL T T - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:55894167delT uc002rzf.2 - 13 1188 c.1135delA c.(1135-1137)ACCfs p.T379fs PNPT1_uc002rzg.2_RNA NM_033109 NP_149100 Q8TCS8 PNPT1_HUMAN polyribonucleotide nucleotidyltransferase 1 379 mRNA catabolic process|RNA processing plasma membrane 3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding 0 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) CCATGAAGGGTTTTAAACATA 0.313 NA 7 106 --- --- --- --- NA NA NA NA MKI67IP 84365 broad.mit.edu 37 2 122485323 122485323 + Frame_Shift_Del DEL T T - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:122485323delT uc002tnk.2 - 7 936 c.859delA c.(859-861)AGAfs p.R287fs uc002tnj.1_Intron NM_032390 NP_115766 Q9BYG3 MK67I_HUMAN MKI67 interacting nucleolar phosphoprotein 287 protein complex assembly|rRNA metabolic process|rRNA transcription condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|protein binding|RNA binding 0 CTTCTTCGTCTTTTTTTCCGT 0.294 NA 20 275 --- --- --- --- NA NA NA NA ACVR2A 92 broad.mit.edu 37 2 148657041 148657041 + Frame_Shift_Del DEL A A - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:148657041delA uc002twg.2 + 4 547 c.278delA c.(277-279)GAAfs p.E93fs ACVR2A_uc010zbn.1_5'UTR|ACVR2A_uc002twh.2_Frame_Shift_Del_p.E93fs NM_001616 NP_001607 P27037 AVR2A_HUMAN activin A receptor, type IIA precursor 93 Extracellular (Potential). activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity stomach(8)|large_intestine(2)|lung(1)|breast(1)|kidney(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.0969) GATTGTGTAGAAAAAAAAGAC 0.299 NA 23 190 --- --- --- --- NA NA NA NA KCNH7 90134 broad.mit.edu 37 2 163374657 163374658 + Frame_Shift_Ins INS - - A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:163374657_163374658insA uc002uch.1 - 4 686_687 c.474_475insT c.(472-477)TTTGGGfs p.F158fs KCNH7_uc002uci.2_Frame_Shift_Ins_p.F158fs NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H, 158_159 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity ovary(3)|skin(2) 5 Ibutilide(DB00308) AATTTGAACCCAAAAAATTTCC 0.381 NA 9 110 --- --- --- --- NA NA NA NA HOXD8 3234 broad.mit.edu 37 2 176995417 176995417 + Frame_Shift_Del DEL C C - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:176995417delC uc002uko.2 + 1 941 c.323delC c.(322-324)GCCfs p.A108fs uc002ukl.1_5'Flank|uc002ukm.1_5'Flank|HOXD8_uc002ukn.2_Intron|HOXD8_uc002ukp.2_Frame_Shift_Del_p.A108fs NM_019558 NP_062458 P13378 HXD8_HUMAN homeobox D8 108 anterior/posterior axis specification, embryo nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195) Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556) TACCAGGCCGccccccctcct 0.557 NA 18 86 --- --- --- --- NA NA NA NA TRIP12 9320 broad.mit.edu 37 2 230724116 230724116 + Frame_Shift_Del DEL T T - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:230724116delT uc002vpw.1 - 3 382 c.273delA c.(271-273)AAAfs p.K91fs TRIP12_uc002vpx.1_Frame_Shift_Del_p.K133fs|TRIP12_uc002vpy.1_Intron|TRIP12_uc010zlz.1_RNA|TRIP12_uc010fxh.1_Frame_Shift_Del_p.K91fs NM_004238 NP_004229 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 91 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1) 9 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) GTGCTTTTGGTTTTTTTGCAG 0.433 NA 10 358 --- --- --- --- NA NA NA NA SPAG4 6676 broad.mit.edu 37 20 34208803 34208803 + Frame_Shift_Del DEL C C - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr20:34208803delC uc002xdb.1 + 12 1290 c.1173delC c.(1171-1173)GACfs p.D391fs SPAG4_uc010zvi.1_Frame_Shift_Del_p.D314fs NM_003116 NP_003107 Q9NPE6 SPAG4_HUMAN sperm associated antigen 4 391 SUN. spermatogenesis cilium|flagellar axoneme|integral to membrane structural molecule activity 0 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.0127) CCCAGAATGACCCCCCAGCTG 0.577 NA 10 140 --- --- --- --- NA NA NA NA CDC45 8318 broad.mit.edu 37 22 19495334 19495336 + In_Frame_Del DEL CTC CTC - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr22:19495334_19495336delCTC uc002zpr.2 + 12 1078_1080 c.1002_1004delCTC c.(1000-1005)ATCTCC>ATC p.S335del CDC45_uc011agz.1_In_Frame_Del_p.S330del|CDC45_uc011aha.1_In_Frame_Del_p.S367del|CDC45_uc002zps.2_In_Frame_Del_p.S335del|CDC45_uc002zpt.2_In_Frame_Del_p.S289del NM_003504 NP_003495 O75419 CDC45_HUMAN CDC45-like 335 DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle centrosome|nucleoplasm protein binding lung(1) 1 CCATGGACATCTCCTTGAAGGAG 0.453 NA 11 108 --- --- --- --- NA NA NA NA TTLL3 26140 broad.mit.edu 37 3 9862377 9862377 + Frame_Shift_Del DEL C C - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:9862377delC uc003btg.2 + 7 893 c.677delC c.(676-678)ACCfs p.T226fs ARPC4_uc003btc.1_Intron|TTLL3_uc003btd.3_Frame_Shift_Del_p.T193fs|TTLL3_uc003btf.3_Frame_Shift_Del_p.T14fs|TTLL3_uc010hco.1_Frame_Shift_Del_p.T162fs|TTLL3_uc003bth.3_Frame_Shift_Del_p.T14fs|TTLL3_uc011atj.1_Frame_Shift_Del_p.T162fs|TTLL3_uc003btj.3_Frame_Shift_Del_p.T14fs|TTLL3_uc003bti.3_Frame_Shift_Del_p.T14fs NM_001025930 NP_001021100 Q9Y4R7 TTLL3_HUMAN tubulin tyrosine ligase-like family, member 3 226 TTL. axoneme assembly|cilium assembly|protein polyglycylation cilium axoneme|cytoplasm|microtubule protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity large_intestine(2) 2 Medulloblastoma(99;0.227) CTGTACCTCACCCCCGAGGGC 0.602 NA 8 143 --- --- --- --- NA NA NA NA P4HTM 54681 broad.mit.edu 37 3 49042369 49042369 + Frame_Shift_Del DEL G G - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:49042369delG uc003cvg.2 + 6 1312 c.963delG c.(961-963)GAGfs p.E321fs P4HTM_uc003cvh.2_Frame_Shift_Del_p.E321fs|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank NM_177939 NP_808808 Q9NXG6 P4HTM_HUMAN hypoxia-inducible factor prolyl 4-hydroxylase 321 Lumenal (Potential).|Fe2OG dioxygenase. endoplasmic reticulum membrane|integral to membrane calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen skin(1)|pancreas(1) 2 Vitamin C(DB00126) GATATGGTGAGGGGGGCCACT 0.617 NA 17 157 --- --- --- --- NA NA NA NA PRKCD 5580 broad.mit.edu 37 3 53220653 53220653 + Frame_Shift_Del DEL G G - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:53220653delG uc003dgl.2 + 14 1647 c.1294delG c.(1294-1296)GGGfs p.G432fs PRKCD_uc003dgm.2_Frame_Shift_Del_p.G432fs NM_006254 NP_006245 Q05655 KPCD_HUMAN protein kinase C, delta 432 Protein kinase. activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction cytosol|endoplasmic reticulum|nucleoplasm ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding central_nervous_system(4)|lung(3)|stomach(1)|skin(1) 9 Ovarian(412;0.0728) OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173) GTTCCTCAACGGGGGGGACCT 0.602 NA 11 659 --- --- --- --- NA NA NA NA B3GNT5 84002 broad.mit.edu 37 3 182987617 182987617 + Frame_Shift_Del DEL A A - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:182987617delA uc003flk.2 + 2 561 c.31delA c.(31-33)AAAfs p.K11fs MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003fll.2_Frame_Shift_Del_p.K11fs|B3GNT5_uc003flm.2_Frame_Shift_Del_p.K11fs NM_032047 NP_114436 Q9BYG0 B3GN5_HUMAN UDP-GlcNAc:betaGal 11 Cytoplasmic (Potential). central nervous system development|glycolipid biosynthetic process|protein glycosylation Golgi membrane|integral to membrane beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity ovary(1) 1 all_cancers(143;8.52e-13)|Ovarian(172;0.0355) all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) CAGAAGAGTCAAAAAATGGCA 0.373 NA 11 235 --- --- --- --- NA NA NA NA C3orf59 151963 broad.mit.edu 37 3 192517004 192517004 + Frame_Shift_Del DEL T T - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:192517004delT uc011bsp.1 - 2 968 c.647delA c.(646-648)AATfs p.N216fs NM_178496 NP_848591 Q8IYB1 M21D2_HUMAN hypothetical protein LOC151963 216 0 all_cancers(143;1.56e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06) GBM - Glioblastoma multiforme(46;3.86e-05) GATGGTCCCATTTTTTTCCAC 0.463 NA 9 136 --- --- --- --- NA NA NA NA ZNF721 170960 broad.mit.edu 37 4 436405 436406 + Frame_Shift_Del DEL CT CT - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr4:436405_436406delCT uc003gag.2 - 3 2541_2542 c.1850_1851delAG c.(1849-1851)GAGfs p.E617fs ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Frame_Shift_Del_p.E649fs|ZNF721_uc010ibe.2_Frame_Shift_Del_p.E605fs NM_133474 NP_597731 D9N162 D9N162_HUMAN zinc finger protein 721 617 intracellular nucleic acid binding|zinc ion binding ovary(1) 1 CTTTGCCACACTCTTCACATTT 0.411 NA 48 592 --- --- --- --- NA NA NA NA HNRPDL 9987 broad.mit.edu 37 4 83350506 83350506 + Frame_Shift_Del DEL G G - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr4:83350506delG uc003hmr.2 - 1 873 c.338delC c.(337-339)CCTfs p.P113fs ENOPH1_uc003hmv.2_5'Flank|ENOPH1_uc003hmw.2_5'Flank|ENOPH1_uc003hmx.2_5'Flank|HNRPDL_uc003hmq.2_RNA|HNRPDL_uc003hms.2_RNA|HNRPDL_uc003hmt.2_Frame_Shift_Del_p.P113fs NM_031372 NP_112740 O14979 HNRDL_HUMAN heterogeneous nuclear ribonucleoprotein D-like 113 regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent cytoplasm|heterogeneous nuclear ribonucleoprotein complex double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding skin(1) 1 Hepatocellular(203;0.114) GCTGTCGGCAGGGGGGTGCTG 0.597 NA 7 131 --- --- --- --- NA NA NA NA LARP1B 55132 broad.mit.edu 37 4 129121769 129121769 + Frame_Shift_Del DEL T T - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr4:129121769delT uc003iga.2 + 17 2389 c.2258delT c.(2257-2259)ATGfs p.M753fs LARP1B_uc003igc.2_Frame_Shift_Del_p.M172fs|LARP1B_uc010ioa.1_RNA|LARP1B_uc003ige.2_RNA|LARP1B_uc003igd.2_RNA|LARP1B_uc003igf.2_5'UTR NM_018078 NP_060548 Q659C4 LAR1B_HUMAN La ribonucleoprotein domain family member 2 753 RNA binding 0 AATAAAAAAATGTATGAGGAA 0.343 NA 9 76 --- --- --- --- NA NA NA NA DCHS2 54798 broad.mit.edu 37 4 155157144 155157144 + Frame_Shift_Del DEL A A - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr4:155157144delA uc003inw.2 - 25 7295 c.7295delT c.(7294-7296)TTCfs p.F2432fs NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 2432 Cadherin 22. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TGGGAGGGTGAAAAAATACTG 0.438 NA 10 158 --- --- --- --- NA NA NA NA FAT1 2195 broad.mit.edu 37 4 187517815 187517815 + Frame_Shift_Del DEL G G - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr4:187517815delG uc003izf.2 - 25 13067 c.12879delC c.(12877-12879)CACfs p.H4293fs FAT1_uc010isn.2_5'Flank|FAT1_uc003ize.2_Frame_Shift_Del_p.H184fs NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 4293 Cytoplasmic (Potential). actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 TTCGGTGCCCGTGCACAGACT 0.552 NA HNSCC(5;0.00058) 7 50 --- --- --- --- NA NA NA NA MTRR 4552 broad.mit.edu 37 5 7875406 7875406 + Frame_Shift_Del DEL G G - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr5:7875406delG uc003jed.2 + 4 430 c.400delG c.(400-402)GGGfs p.G134fs MTRR_uc010itn.1_RNA|MTRR_uc003jee.3_Frame_Shift_Del_p.G107fs|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_RNA|MTRR_uc010ito.2_RNA NM_024010 NP_076915 Q9UBK8 MTRR_HUMAN methionine synthase reductase isoform 2 134 FMN (By similarity).|Flavodoxin-like. methionine biosynthetic process cytosol [methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding ovary(1) 1 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134) CTTTTGCAATGGGGGGAAGAT 0.408 NA 14 364 --- --- --- --- NA NA NA NA FAT2 2196 broad.mit.edu 37 5 150924483 150924484 + Frame_Shift_Ins INS - - G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr5:150924483_150924484insG uc003lue.3 - 9 6217_6218 c.6204_6205insC c.(6202-6207)CCCAAAfs p.P2068fs GM2A_uc011dcs.1_Intron NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 2068_2069 Extracellular (Potential).|Cadherin 17. 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) TGCTTAAATTTGGGGGGATTGT 0.505 NA 16 188 --- --- --- --- NA NA NA NA HLA-C 3107 broad.mit.edu 37 6 31238162 31238162 + Frame_Shift_Del DEL G G - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:31238162delG uc003nsy.2 - 4 727 c.720delC c.(718-720)ACCfs p.T240fs HLA-C_uc011dnj.1_Frame_Shift_Del_p.T212fs|HLA-C_uc003nsx.2_Frame_Shift_Del_p.T119fs|HLA-C_uc003nsz.2_Frame_Shift_Del_p.T240fs|HLA-C_uc010jsl.2_Frame_Shift_Del_p.T240fs|HLA-C_uc003nta.2_Frame_Shift_Del_p.T240fs|HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-C_uc011dnl.1_Frame_Shift_Del_p.T119fs NM_002117 NP_002108 Q9TNN7 1C05_HUMAN major histocompatibility complex, class I, C 240 Extracellular (Potential).|Alpha-3.|Ig-like C1-type. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex 0 CCCGCTGCCAGGTCAGTGTGA 0.637 NA 18 137 --- --- --- --- NA NA NA NA ZBTB22 9278 broad.mit.edu 37 6 33283004 33283005 + Frame_Shift_Del DEL CA CA - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:33283004_33283005delCA uc003oeb.2 - 2 1841_1842 c.1689_1690delTG c.(1687-1692)TGTGAGfs p.C563fs TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Frame_Shift_Del_p.C563fs NM_005453 NP_005444 O15209 ZBT22_HUMAN zinc finger and BTB domain containing 22 563_564 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TGCCGGCGCTCACAGTGTCCTC 0.663 NA 11 83 --- --- --- --- NA NA NA NA ANKS1A 23294 broad.mit.edu 37 6 34951143 34951143 + Frame_Shift_Del DEL C C - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:34951143delC uc003ojx.3 + 7 1095 c.953delC c.(952-954)ACCfs p.T318fs ANKS1A_uc011dss.1_Intron|ANKS1A_uc011dst.1_5'UTR|ANKS1A_uc010jvp.1_5'UTR NM_015245 NP_056060 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain 318 cytoplasm protein binding ovary(3)|upper_aerodigestive_tract(1) 4 GTAGATAAAACCCCCCCACCC 0.418 NA 21 245 --- --- --- --- NA NA NA NA SLC35F1 222553 broad.mit.edu 37 6 118596759 118596759 + Frame_Shift_Del DEL T T - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:118596759delT uc003pxx.3 + 5 976 c.775delT c.(775-777)TTTfs p.F259fs SLC35F1_uc003pxy.1_Frame_Shift_Del_p.F64fs NM_001029858 NP_001025029 Q5T1Q4 S35F1_HUMAN solute carrier family 35, member F1 259 Helical; (Potential). transport integral to membrane breast(1) 1 GBM - Glioblastoma multiforme(226;0.217) CTTTGGAGCATTTTTCAGTGG 0.378 NA 12 118 --- --- --- --- NA NA NA NA TCP10 6953 broad.mit.edu 37 6 167791449 167791450 + Frame_Shift_Ins INS - - G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:167791449_167791450insG uc003qvv.1 - 4 622_623 c.410_411insC c.(409-411)CCTfs p.P137fs TCP10_uc003qvu.2_Frame_Shift_Ins_p.P137fs|TCP10_uc003qvw.2_Frame_Shift_Ins_p.P113fs NM_004610 NP_004601 Q12799 TCP10_HUMAN t-complex 10 164 cytosol breast(1) 1 Breast(66;1.53e-05)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386) TCACCTTTGGAGGAGCTAAGTG 0.515 NA 13 420 --- --- --- --- NA NA NA NA PKD1L1 168507 broad.mit.edu 37 7 47925401 47925401 + Frame_Shift_Del DEL C C - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:47925401delC uc003tny.1 - 18 3088 c.3088delG c.(3088-3090)GAGfs p.E1030fs NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 1030 Extracellular (Potential).|REJ. cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 TCTGGAGCCTCCCCCAGGACT 0.622 NA 7 191 --- --- --- --- NA NA NA NA ABCA13 154664 broad.mit.edu 37 7 48311506 48311506 + Frame_Shift_Del DEL T T - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:48311506delT uc003toq.2 + 17 2268 c.2243delT c.(2242-2244)CTTfs p.L748fs ABCA13_uc010kyr.2_Frame_Shift_Del_p.L251fs NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 748 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 TTGCCTAATCTTTTTGACTCC 0.348 NA 12 67 --- --- --- --- NA NA NA NA CYP51A1 1595 broad.mit.edu 37 7 91752493 91752494 + Frame_Shift_Ins INS - - T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:91752493_91752494insT uc003ulm.3 - 7 1188_1189 c.1026_1027insA c.(1024-1029)AAATGTfs p.K342fs CYP51A1_uc011khn.1_Frame_Shift_Ins_p.K237fs|CYP51A1_uc003uln.3_Frame_Shift_Ins_p.K279fs NM_000786 NP_000777 Q16850 CP51A_HUMAN cytochrome P450, family 51, subfamily A, 336_337 cholesterol biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|sterol 14-demethylase activity 0 all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251) TCTAAATAACATTTTTTTTGAA 0.396 NA 22 275 --- --- --- --- NA NA NA NA RP1L1 94137 broad.mit.edu 37 8 10470757 10470757 + Frame_Shift_Del DEL G G - rs74594406 by1000genomes TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr8:10470757delG uc003wtc.2 - 4 1080 c.851delC c.(850-852)CCGfs p.P284fs NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 284 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) AGGGCCCACCGGGGGGTTGCT 0.662 NA 15 201 --- --- --- --- NA NA NA NA MYST3 7994 broad.mit.edu 37 8 41798569 41798569 + Frame_Shift_Del DEL C C - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr8:41798569delC uc010lxb.2 - 16 3374 c.2830delG c.(2830-2832)GTTfs p.V944fs MYST3_uc010lxc.2_Frame_Shift_Del_p.V944fs|MYST3_uc003xon.3_Frame_Shift_Del_p.V944fs NM_001099412 NP_001092882 Q92794 MYST3_HUMAN MYST histone acetyltransferase (monocytic 944 histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171) CAGGGCTCAACCCCCTCACTG 0.552 NA 17 326 --- --- --- --- NA NA NA NA TMEM68 137695 broad.mit.edu 37 8 56668944 56668944 + Frame_Shift_Del DEL T T - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr8:56668944delT uc003xsg.1 - 2 421 c.352delA c.(352-354)ATAfs p.I118fs TMEM68_uc003xsh.1_Frame_Shift_Del_p.I118fs NM_152417 NP_689630 Q96MH6 TMM68_HUMAN transmembrane protein 68 118 integral to membrane acyltransferase activity skin(1) 1 Epithelial(17;0.000361)|all cancers(17;0.00326) TCTTCTGGTATTTTTTCCATT 0.299 NA 9 155 --- --- --- --- NA NA NA NA LRRC67 286187 broad.mit.edu 37 8 67926714 67926715 + Frame_Shift_Ins INS - - T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr8:67926714_67926715insT uc003xxc.2 - 3 387_388 c.242_243insA c.(241-243)AACfs p.N81fs NM_001013626 NP_001013648 Q7Z4L9 LRC67_HUMAN leucine rich repeat containing 67 81 LRR 3. 0 AAATACAATTGTTTTGTAGGTA 0.272 NA 11 231 --- --- --- --- NA NA NA NA SLC26A7 115111 broad.mit.edu 37 8 92352747 92352747 + Frame_Shift_Del DEL A A - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr8:92352747delA uc003yex.2 + 9 1272 c.994delA c.(994-996)AAAfs p.K332fs SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Frame_Shift_Del_p.K332fs|SLC26A7_uc003yfa.2_Frame_Shift_Del_p.K332fs NM_052832 NP_439897 Q8TE54 S26A7_HUMAN solute carrier family 26, member 7 isoform a 332 Extracellular (Potential). basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(11;0.00802) AGGATCTGCCAAAAAATTCAA 0.502 NA 10 166 --- --- --- --- NA NA NA NA ASMTL 8623 broad.mit.edu 37 X 1546793 1546793 + Frame_Shift_Del DEL C C - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:1546793delC uc004cpx.1 - 7 842 c.731delG c.(730-732)GGCfs p.G244fs ASMTL_uc011mhe.1_Frame_Shift_Del_p.G168fs|ASMTL_uc004cpy.1_Frame_Shift_Del_p.G228fs|ASMTL_uc011mhf.1_Frame_Shift_Del_p.G186fs NM_004192 NP_004183 O95671 ASML_HUMAN acetylserotonin O-methyltransferase-like 244 melatonin biosynthetic process cytoplasm acetylserotonin O-methyltransferase 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) CTCCGAGCCGCCCCCCTCCAC 0.697 NA 12 124 --- --- --- --- NA NA NA NA DMD 1756 broad.mit.edu 37 X 32862971 32862972 + In_Frame_Ins INS - - TTT TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:32862971_32862972insTTT uc004dda.1 - 4 436_437 c.192_193insAAA c.(190-195)insAAA p.64_65insK DMD_uc004dcz.2_5'UTR|DMD_uc004dcy.1_In_Frame_Ins_p.60_61insK|DMD_uc004ddb.1_In_Frame_Ins_p.56_57insK|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_In_Frame_Ins_p.56_57insK|DMD_uc010ngq.1_RNA|DMD_uc010ngr.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 64_65 CH 1.|Actin-binding. 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) GATCCTTTTTCTTTTGGCTGAG 0.396 NA 8 112 --- --- --- --- NA NA NA NA FOXR2 139628 broad.mit.edu 37 X 55650821 55650822 + Frame_Shift_Ins INS - - C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:55650821_55650822insC uc004duo.2 + 1 989_990 c.677_678insC c.(676-678)TTCfs p.F226fs NM_198451 NP_940853 Q6PJQ5 FOXR2_HUMAN forkhead box R2 226 Fork-head. embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding lung(2)|central_nervous_system(1) 3 CGACAGCATTTCCCCTTTTTCT 0.51 NA 13 195 --- --- --- --- NA NA NA NA PCDH11X 27328 broad.mit.edu 37 X 91134260 91134261 + Frame_Shift_Del DEL AC AC - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:91134260_91134261delAC uc004efk.1 + 2 3866_3867 c.3021_3022delAC c.(3019-3024)GTACACfs p.V1007fs PCDH11X_uc004efl.1_Frame_Shift_Del_p.V1007fs|PCDH11X_uc004efo.1_Frame_Shift_Del_p.V1007fs|PCDH11X_uc010nmv.1_Frame_Shift_Del_p.V1007fs|PCDH11X_uc004efm.1_Frame_Shift_Del_p.V1007fs|PCDH11X_uc004efn.1_Frame_Shift_Del_p.V1007fs|PCDH11X_uc004efh.1_Frame_Shift_Del_p.V1007fs|PCDH11X_uc004efj.1_Frame_Shift_Del_p.V1007fs NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 1007_1008 Cytoplasmic (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 CTGTGTCCGTACACACCAGACC 0.406 NA 25 320 --- --- --- --- NA NA NA NA RNF128 79589 broad.mit.edu 37 X 106016281 106016281 + Frame_Shift_Del DEL T T - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:106016281delT uc004eml.2 + 2 873 c.623delT c.(622-624)ATTfs p.I208fs RNF128_uc004emk.2_Frame_Shift_Del_p.I182fs NM_194463 NP_919445 Q8TEB7 RN128_HUMAN ring finger protein 128 isoform 1 208 Helical; (Potential). endomembrane system|integral to membrane|perinuclear region of cytoplasm zinc ion binding ovary(1)|central_nervous_system(1) 2 CACTATTCAATTTTTTTCGTT 0.388 NA 23 256 --- --- --- --- NA NA NA NA TEX13B 56156 broad.mit.edu 37 X 107224932 107224933 + Frame_Shift_Del DEL CT CT - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:107224932_107224933delCT uc004enn.1 - 2 518_519 c.425_426delAG c.(424-426)GAGfs p.E142fs NM_031273 NP_112563 Q9BXU2 TX13B_HUMAN testis expressed 13B 142 ovary(1) 1 GCATGTCCCGCTCTCTCTGCAC 0.589 NA 7 175 --- --- --- --- NA NA NA NA ODZ1 10178 broad.mit.edu 37 X 124029940 124029941 + Frame_Shift_Ins INS - - T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:124029940_124029941insT uc004euj.2 - 2 431_432 c.367_368insA c.(367-369)ATGfs p.M123fs ODZ1_uc011muj.1_Frame_Shift_Ins_p.M123fs|ODZ1_uc010nqy.2_Frame_Shift_Ins_p.M123fs NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 123 Teneurin N-terminal.|Cytoplasmic (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 CCTTATCCACATTCTTAGTGCA 0.495 NA 44 594 --- --- --- --- NA NA NA NA SRPK3 26576 broad.mit.edu 37 X 153049647 153049647 + Frame_Shift_Del DEL G G - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:153049647delG uc004fil.2 + 10 1158 c.1126delG c.(1126-1128)GGGfs p.G376fs SRPK3_uc004fik.2_Frame_Shift_Del_p.G442fs|SRPK3_uc010nul.2_Frame_Shift_Del_p.G300fs|SRPK3_uc004fin.2_Frame_Shift_Del_p.G375fs|SRPK3_uc004fim.2_Frame_Shift_Del_p.G342fs NM_014370 NP_055185 Q9UPE1 SRPK3_HUMAN serine arginine rich protein-specific kinase 3 376 Protein kinase. cell differentiation|muscle organ development|muscle tissue development ATP binding|protein serine/threonine kinase activity pancreas(2)|lung(1) 3 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) GCGAGAGACCGGGGGCCTCCT 0.642 NA 15 150 --- --- --- --- NA NA NA NA