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 GPR153 387509 broad.mit.edu 37 1 6314150 6314150 + Silent SNP G G A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr1:6314150G>A uc001amp.1 - 3 674 c.414C>T c.(412-414)TCC>TCT p.S138S NM_207370 NP_997253 Q6NV75 GP153_HUMAN G protein-coupled receptor 153 138 Helical; Name=4; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 Ovarian(185;0.0634) all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246) ACAGGATGAAGGACACCATCC 0.622 NA 28 56 0 0 0 0 ZBTB48 3104 broad.mit.edu 37 1 6646822 6646822 + Missense_Mutation SNP C C G TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr1:6646822C>G uc009vmc.1 + 5 1235 c.1112C>G c.(1111-1113)TCT>TGT p.S371C ZBTB48_uc001anx.2_Missense_Mutation_p.S371C|ZBTB48_uc009vmd.1_Missense_Mutation_p.S371C|ZBTB48_uc001any.1_Missense_Mutation_p.S9C NM_005341 NP_005332 P10074 ZBT48_HUMAN zinc finger and BTB domain containing 48 371 C2H2-type 3. cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642) CACATGGTGTCTCACACAGGG 0.632 NA 5 16 0 0 0 0 MFN2 9927 broad.mit.edu 37 1 12062113 12062113 + Silent SNP G G A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr1:12062113G>A uc001atn.3 + 11 1566 c.1113G>A c.(1111-1113)GCG>GCA p.A371A MFN2_uc009vni.2_Silent_p.A371A NM_014874 NP_055689 O95140 MFN2_HUMAN mitofusin 2 371 Cytoplasmic (Potential). blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion cytosol|integral to membrane|intrinsic to mitochondrial outer membrane GTP binding|GTPase activity|ubiquitin protein ligase binding ovary(1) 1 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656) TTGCAGAGGCGGTTCGACTCA 0.587 NA 39 72 0 0 0 0 CLCNKA 1187 broad.mit.edu 37 1 16355704 16355704 + Silent SNP C C T TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr1:16355704C>T uc001axu.2 + 12 1217 c.1137C>T c.(1135-1137)CCC>CCT p.P379P CLCNKA_uc001axt.2_RNA|CLCNKA_uc001axv.2_Silent_p.P379P|CLCNKA_uc010obw.1_Silent_p.P336P|CLCNKB_uc001axw.3_Intron|CLCNKA_uc010obx.1_Silent_p.P26P|CLCNKA_uc010oby.1_Nonsense_Mutation_p.R109* NM_004070 NP_004061 P51800 CLCKA_HUMAN chloride channel Ka isoform 1 379 excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity ovary(1) 1 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) CACCCTGGCCCGAGGAGCTCG 0.627 NA 7 69 0 0 0 0 UBR4 23352 broad.mit.edu 37 1 19447699 19447699 + Missense_Mutation SNP T T A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr1:19447699T>A uc001bbi.2 - 68 10129 c.10125A>T c.(10123-10125)AAA>AAT p.K3375N UBR4_uc001bbk.1_Missense_Mutation_p.K1022N NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 3375 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TCTCCTTTTCTTTTTCTTCTT 0.453 NA 32 92 0 0 0 0 PQLC2 54896 broad.mit.edu 37 1 19644172 19644172 + Missense_Mutation SNP A A G TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr1:19644172A>G uc001bby.2 + 3 353 c.1A>G c.(1-3)ATG>GTG p.M1V PQLC2_uc001bbz.2_Intron|PQLC2_uc001bca.2_Missense_Mutation_p.M1V|PQLC2_uc001bcb.2_Intron|PQLC2_uc001bcc.2_5'UTR NM_017765 NP_060235 Q6ZP29 PQLC2_HUMAN PQ loop repeat containing 2 isoform 1 1 Extracellular (Potential). integral to membrane 0 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CTCCACAGCCATGGTCTGGAA 0.647 NA 41 99 0 0 0 0 PINK1 65018 broad.mit.edu 37 1 20971032 20971032 + Missense_Mutation SNP C C T TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr1:20971032C>T uc001bdm.2 + 4 920 c.826C>T c.(826-828)CGG>TGG p.R276W NM_032409 NP_115785 Q9BXM7 PINK1_HUMAN PTEN induced putative kinase 1 precursor 276 Protein kinase.|Cytoplasmic (Potential). R -> Q. cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress cytosol|integral to membrane|mitochondrial outer membrane ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding ovary(2)|central_nervous_system(1) 3 all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CAACATCATCCGGGTTCTCCG 0.592 NA 8 126 0 0 0 0 MACF1 23499 broad.mit.edu 37 1 39920720 39920720 + Missense_Mutation SNP C C A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr1:39920720C>A uc010oiu.1 + 54 16486 c.16355C>A c.(16354-16356)CCA>CAA p.P5452Q MACF1_uc010ois.1_Missense_Mutation_p.P4950Q NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 6908 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GATCAGGAGCCAATCCCGCAG 0.527 NA 24 35 7.93e-12 9.19e-12 1 0 KLF17 128209 broad.mit.edu 37 1 44595384 44595384 + Silent SNP C C T TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr1:44595384C>T uc001clp.2 + 2 499 c.441C>T c.(439-441)TTC>TTT p.F147F KLF17_uc009vxf.1_Silent_p.F110F NM_173484 NP_775755 Q5JT82 KLF17_HUMAN zinc finger protein 393 147 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(166;0.155) CCAGGCCCTTCGGTGGGAATC 0.562 NA 5 50 0 0 0 0 NFIA 4774 broad.mit.edu 37 1 61920976 61920976 + Missense_Mutation SNP C C T TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr1:61920976C>T uc001czw.2 + 11 1998 c.1514C>T c.(1513-1515)TCC>TTC p.S505F NFIA_uc001czy.2_Missense_Mutation_p.S497F|NFIA_uc010oos.1_Missense_Mutation_p.S550F|NFIA_uc001czv.2_Silent_p.I474I|NFIA_uc001czx.2_Missense_Mutation_p.S153F|NFIA_uc009wae.2_RNA NM_001134673 NP_001128145 Q12857 NFIA_HUMAN nuclear factor I/A isoform 1 505 DNA replication|viral genome replication cell junction|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding pancreas(1)|skin(1) 2 GTCTTCCAGTCCTGGTACCTG 0.448 NA 4 81 0 0 0 0 C1orf173 127254 broad.mit.edu 37 1 75072531 75072531 + Nonsense_Mutation SNP C C A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr1:75072531C>A uc001dgg.2 - 10 1462 c.1243G>T c.(1243-1245)GAA>TAA p.E415* uc001dgh.2_Intron|C1orf173_uc001dgi.3_Nonsense_Mutation_p.E209* NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 415 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 GTGCTCTTTTCTTTCCTAGAT 0.403 NA 6 132 0.000157383 0.000168318 1 0 CRABP2 1382 broad.mit.edu 37 1 156670775 156670775 + Missense_Mutation SNP T T A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr1:156670775T>A uc001fpr.2 - 2 277 c.140A>T c.(139-141)GAG>GTG p.E47V NM_001878 NP_001869 P29373 RABP2_HUMAN cellular retinoic acid binding protein 2 47 epidermis development|regulation of transcription, DNA-dependent|signal transduction cytoplasm|nucleus retinal binding|retinol binding|transporter activity upper_aerodigestive_tract(1) 1 all_hematologic(923;0.088)|Hepatocellular(266;0.158) Alitretinoin(DB00523) AGTGTCTCCCTCCTGTTTGAT 0.537 NA 28 37 0 0 0 0 COPA 1314 broad.mit.edu 37 1 160312934 160312934 + Silent SNP G G A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr1:160312934G>A uc009wti.2 - 1 421 c.27C>T c.(25-27)AGC>AGT p.S9S COPA_uc001fvv.3_Silent_p.S9S|COPA_uc009wtj.1_5'UTR|NCSTN_uc009wtk.1_5'Flank|NCSTN_uc001fvx.2_5'Flank|NCSTN_uc001fvy.2_5'Flank|NCSTN_uc010pjf.1_5'Flank NM_004371 NP_004362 P53621 COPA_HUMAN coatomer protein complex, subunit alpha isoform 9 WD 1. COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity ovary(1)|skin(1) 2 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TGACCCGCGCGCTCTTGGTCT 0.567 NA 12 249 0 0 0 0 RC3H1 149041 broad.mit.edu 37 1 173961928 173961928 + Missense_Mutation SNP C C A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr1:173961928C>A uc001gju.3 - 1 283 c.196G>T c.(196-198)GTG>TTG p.V66L RC3H1_uc010pms.1_Missense_Mutation_p.V66L|RC3H1_uc001gjv.2_Missense_Mutation_p.V66L|RC3H1_uc010pmt.1_Missense_Mutation_p.V66L NM_172071 NP_742068 Q5TC82 RC3H1_HUMAN roquin 66 cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway cytoplasmic mRNA processing body|stress granule mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 GCTGAGTTCACAGGGAGGAGC 0.393 NA 26 31 7.01e-11 8.08e-11 1 0 CEP350 9857 broad.mit.edu 37 1 180010837 180010837 + Missense_Mutation SNP G G A rs138458512 TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr1:180010837G>A uc001gnt.2 + 19 4645 c.4262G>A c.(4261-4263)CGG>CAG p.R1421Q CEP350_uc009wxl.2_Missense_Mutation_p.R1420Q NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 1421 centrosome|nucleus|spindle ovary(4) 4 CAATCACAACGGGAAGTAACT 0.438 NA 8 19 0 0 0 0 CACNA1S 779 broad.mit.edu 37 1 201022675 201022675 + Missense_Mutation SNP C C T TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr1:201022675C>T uc001gvv.2 - 30 3934 c.3707G>A c.(3706-3708)CGC>CAC p.R1236H NM_000069 NP_000060 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, 1236 IV.|Helical; Name=S4 of repeat IV; (Potential). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity ovary(3)|central_nervous_system(1)|skin(1) 5 Magnesium Sulfate(DB00653)|Verapamil(DB00661) ACGGAACAGGCGGAAGAAGGC 0.622 NA 4 73 0 0 0 0 UPF2 26019 broad.mit.edu 37 10 11994186 11994186 + Silent SNP A A G TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr10:11994186A>G uc001ila.2 - 14 3387 c.2913T>C c.(2911-2913)GAT>GAC p.D971D UPF2_uc001ilb.2_Silent_p.D971D|UPF2_uc001ilc.2_Silent_p.D971D|UPF2_uc009xiz.1_Silent_p.D971D NM_080599 NP_542166 Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog 971 MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding central_nervous_system(2)|ovary(1) 3 Renal(717;0.228) TGTAATCTATATCAATAGGAA 0.348 NA 38 55 0 0 0 0 CDC123 8872 broad.mit.edu 37 10 12238301 12238301 + Silent SNP A A T TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr10:12238301A>T uc001ill.2 + 1 341 c.57A>T c.(55-57)CGA>CGT p.R19R NUDT5_uc001ilj.2_5'Flank|NUDT5_uc001ilk.2_5'Flank|CDC123_uc009xja.2_Silent_p.R19R|CDC123_uc001ilm.2_Silent_p.R19R NM_006023 NP_006014 O75794 CD123_HUMAN cell division cycle 123 19 cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle cytoplasm central_nervous_system(1) 1 CGTTCTTCCGAGGCGTTACCA 0.572 NA 22 48 0 0 0 0 SPAG6 9576 broad.mit.edu 37 10 22699991 22699991 + Missense_Mutation SNP T T A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr10:22699991T>A uc001iri.2 + 10 1488 c.1346T>A c.(1345-1347)CTT>CAT p.L449H SPAG6_uc001irj.2_Intron|SPAG6_uc010qct.1_Missense_Mutation_p.L419H|SPAG6_uc009xkh.2_Missense_Mutation_p.L427H NM_012443 NP_036575 O75602 SPAG6_HUMAN sperm associated antigen 6 isoform 1 449 cell projection organization|spermatid development axoneme|cilium|cytoplasm|flagellum|microtubule binding breast(1) 1 GCTCGACGACTTTTTGTAACA 0.378 NA 25 32 0 0 0 0 WAC 51322 broad.mit.edu 37 10 28872436 28872436 + Splice_Site SNP T T G TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr10:28872436T>G uc001iuf.2 + 4 466 c.381_splice c.e4+2 p.A127_splice WAC_uc001iud.2_Splice_Site_p.A82_splice|WAC_uc001iue.2_Intron|WAC_uc009xlb.2_Splice_Site_p.A82_splice|WAC_uc001iug.2_Splice_Site_p.A127_splice|WAC_uc001iuh.2_Splice_Site_p.A82_splice NM_016628 NP_057712 Q9BTA9 WAC_HUMAN WW domain-containing adapter with a coiled-coil cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nuclear speck chromatin binding|RNA polymerase II core binding large_intestine(1)|ovary(1) 2 TCAGATGCAGTAAGTATTATA 0.313 NA 49 84 0 0 0 0 IPMK 253430 broad.mit.edu 37 10 60027245 60027245 + Missense_Mutation SNP G G C TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr10:60027245G>C uc001jkb.2 - 1 450 c.127C>G c.(127-129)CTC>GTC p.L43V CISD1_uc001jkc.3_5'Flank NM_152230 NP_689416 Q8NFU5 IPMK_HUMAN inositol polyphosphate multikinase 43 nucleus ATP binding|inositol trisphosphate 6-kinase activity ovary(1) 1 CAGCCGTTGAGGAAGCGGAGT 0.701 NA 12 17 0 0 0 0 TSPAN14 81619 broad.mit.edu 37 10 82269158 82269158 + Silent SNP C C T rs145582053 byFrequency TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr10:82269158C>T uc001kcj.3 + 5 488 c.381C>T c.(379-381)TTC>TTT p.F127F TSPAN14_uc009xss.2_Intron|TSPAN14_uc001kci.3_Silent_p.F110F NM_030927 NP_112189 Q8NG11 TSN14_HUMAN tetraspanin 14 isoform 1 127 integral to membrane ovary(1)|central_nervous_system(1) 2 Colorectal(32;0.229) GGGAGTTCTTCGAGAGCAACA 0.582 NA 6 51 0 0 0 0 FAM190B 54462 broad.mit.edu 37 10 86237392 86237392 + Missense_Mutation SNP A A G TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr10:86237392A>G uc001kdh.1 + 9 2491 c.2297A>G c.(2296-2298)TAT>TGT p.Y766C FAM190B_uc010qmd.1_Missense_Mutation_p.Y766C|FAM190B_uc001kdi.1_Translation_Start_Site|FAM190B_uc010qme.1_Missense_Mutation_p.Y193C NM_018999 NP_061872 Q9H7U1 F190B_HUMAN granule cell antiserum positive 14 766 ovary(3)|skin(1) 4 GCTGATAAATATACCCAAACA 0.338 NA 8 22 0 0 0 0 HTR7 3363 broad.mit.edu 37 10 92508650 92508650 + Missense_Mutation SNP C C A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr10:92508650C>A uc001kha.2 - 2 1484 c.1241G>T c.(1240-1242)GGC>GTC p.G414V HTR7_uc001kgz.2_Missense_Mutation_p.G414V|HTR7_uc001khb.2_Missense_Mutation_p.G414V NM_019859 NP_062873 P34969 5HT7R_HUMAN 5-hydroxytryptamine receptor 7 isoform d 414 Cytoplasmic (By similarity). blood circulation|circadian rhythm integral to plasma membrane protein binding|serotonin receptor activity ovary(1) 1 Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246) TTCATGCATGCCTGCAGCTGA 0.498 NA 7 145 8.13e-05 8.74e-05 1 0 RRP12 23223 broad.mit.edu 37 10 99123620 99123620 + Silent SNP G G A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr10:99123620G>A uc001knf.2 - 30 3697 c.3558C>T c.(3556-3558)ATC>ATT p.I1186I RRP12_uc001kne.2_Silent_p.I201I|RRP12_uc009xvl.2_Silent_p.I303I|RRP12_uc009xvm.2_Silent_p.I904I|RRP12_uc010qou.1_Silent_p.I1125I|RRP12_uc009xvn.2_Silent_p.I1086I NM_015179 NP_055994 Q5JTH9 RRP12_HUMAN ribosomal RNA processing 12 homolog isoform 1 1186 integral to membrane|nuclear membrane|nucleolus protein binding ovary(2)|central_nervous_system(1) 3 Colorectal(252;0.162) Epithelial(162;2.72e-09)|all cancers(201;1.76e-07) CATTCCTGATGATCACATCTT 0.542 NA 5 120 0 0 0 0 HPSE2 60495 broad.mit.edu 37 10 100503694 100503694 + Silent SNP G G A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr10:100503694G>A uc001kpn.1 - 4 790 c.730C>T c.(730-732)CTG>TTG p.L244L HPSE2_uc009xwc.1_Silent_p.L234L|HPSE2_uc001kpo.1_Intron|HPSE2_uc009xwd.1_Intron NM_021828 NP_068600 Q8WWQ2 HPSE2_HUMAN heparanase 2 244 carbohydrate metabolic process intracellular|membrane cation binding|heparanase activity ovary(1) 1 Epithelial(162;1.8e-09)|all cancers(201;4.72e-07) TACTTCAACAGACTCAGGGCA 0.418 NA 19 42 0 0 0 0 FANK1 92565 broad.mit.edu 37 10 127677183 127677183 + Silent SNP G G A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr10:127677183G>A uc001ljh.3 + 3 359 c.255G>A c.(253-255)CTG>CTA p.L85L FANK1_uc010quk.1_Silent_p.L79L|FANK1_uc009yan.2_Silent_p.L85L|FANK1_uc001lji.2_Silent_p.L79L NM_145235 NP_660278 Q8TC84 FANK1_HUMAN fibronectin type III and ankyrin repeat domains 85 Fibronectin type-III. cytoplasm|nucleus ovary(1) 1 all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936) GATTTCGCCTGAAGGTCACCA 0.517 NA 8 184 0 0 0 0 DEAF1 10522 broad.mit.edu 37 11 688405 688405 + Missense_Mutation SNP A A C TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr11:688405A>C uc001lqq.1 - 3 1136 c.443T>G c.(442-444)CTG>CGG p.L148R DEAF1_uc009ycf.1_5'Flank NM_021008 NP_066288 O75398 DEAF1_HUMAN deformed epidermal autoregulatory factor 1 148 embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|cytoplasm|extracellular region|nucleus protein binding|zinc ion binding 0 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075) GACGACAATCAGTGTCGCTTT 0.617 NA 3 50 0 0 0 0 MUC6 4588 broad.mit.edu 37 11 1017190 1017190 + Missense_Mutation SNP A A G TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr11:1017190A>G uc001lsw.2 - 31 5662 c.5611T>C c.(5611-5613)TCA>CCA p.S1871P NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 1871 Thr-rich.|2.|Approximate repeats. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GTTGGCATTGAGTGGATGGAG 0.577 NA 20 508 0 0 0 0 MUC5B 727897 broad.mit.edu 37 11 1261590 1261590 + Missense_Mutation SNP C C T TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr11:1261590C>T uc009ycr.1 + 46 6160 c.6034C>T c.(6034-6036)CCC>TCC p.P2012S MUC5B_uc001ltb.2_Missense_Mutation_p.P1322S|MUC5B_uc001lta.2_Missense_Mutation_p.P987S NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 1319 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) CGCCTGGGTCCCCCACTCCAC 0.617 NA 22 37 0 0 0 0 NLRP14 338323 broad.mit.edu 37 11 7081273 7081273 + Missense_Mutation SNP A A T TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr11:7081273A>T uc001mfb.1 + 9 3105 c.2782A>T c.(2782-2784)AGC>TGC p.S928C NM_176822 NP_789792 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 928 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) TCGGCATCCAAGCTGTAATCT 0.433 NA 60 115 0 0 0 0 EIF4G2 1982 broad.mit.edu 37 11 10825924 10825924 + Silent SNP C C A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr11:10825924C>A uc001mjc.2 - 6 810 c.393G>T c.(391-393)CTG>CTT p.L131L EIF4G2_uc001mjb.2_5'UTR|EIF4G2_uc009ygf.2_5'UTR|EIF4G2_uc001mjd.2_Silent_p.L131L|EIF4G2_uc001mjf.1_5'UTR|SNORD97_uc009yge.2_5'Flank NM_001418 NP_001409 P78344 IF4G2_HUMAN eukaryotic translation initiation factor 4 131 MIF4G. cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity ovary(1)|central_nervous_system(1) 2 all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) GCTGAGCATACAGTGAGCTAT 0.443 NA 37 76 3.21e-22 3.82e-22 1 0 LRRC4C 57689 broad.mit.edu 37 11 40137567 40137567 + Missense_Mutation SNP T T A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr11:40137567T>A uc001mxa.1 - 2 2240 c.276A>T c.(274-276)AAA>AAT p.K92N LRRC4C_uc001mxc.1_Missense_Mutation_p.K88N|LRRC4C_uc001mxd.1_Missense_Mutation_p.K88N|LRRC4C_uc001mxb.1_Missense_Mutation_p.K88N NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 92 LRR 1. regulation of axonogenesis integral to membrane protein binding ovary(4)|skin(3)|central_nervous_system(1) 8 all_lung(304;0.0575)|Lung NSC(402;0.138) AGCTGTTCACTTTGATGATCT 0.473 NA 15 49 0 0 0 0 SLC6A13 6540 broad.mit.edu 37 12 336790 336790 + Silent SNP G G A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr12:336790G>A uc001qic.1 - 8 929 c.876C>T c.(874-876)ATC>ATT p.I292I SLC6A13_uc009zdj.1_Silent_p.I292I|SLC6A13_uc010sdl.1_Silent_p.I200I|SLC6A13_uc010sdm.1_Silent_p.I173I NM_016615 NP_057699 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter 292 Helical; Name=6; (Potential). neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity 0 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) ACCCAAGACAGATGGCGAAGG 0.562 NA 6 47 0 0 0 0 NOP2 4839 broad.mit.edu 37 12 6666180 6666180 + Missense_Mutation SNP G G C TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr12:6666180G>C uc001qph.1 - 16 2586 c.2406C>G c.(2404-2406)AAC>AAG p.N802K IFFO1_uc001qpe.1_5'Flank|IFFO1_uc010sfe.1_5'Flank|IFFO1_uc001qpf.1_5'Flank|IFFO1_uc001qpc.1_5'Flank|IFFO1_uc001qpd.1_5'Flank|NOP2_uc009zeq.1_3'UTR|NOP2_uc001qpi.1_Missense_Mutation_p.N802K|NOP2_uc001qpj.1_Missense_Mutation_p.N231K NM_001033714 NP_001028886 P46087 NOP2_HUMAN nucleolar protein 1, 120kDa 806 positive regulation of cell proliferation|rRNA processing nucleolus protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity ovary(2) 2 GCAGCTGGCTGTTGCCCCTGG 0.557 NA 18 32 0 0 0 0 LPCAT3 10162 broad.mit.edu 37 12 7086775 7086775 + Silent SNP A A T TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr12:7086775A>T uc001qsi.2 - 10 1287 c.1173T>A c.(1171-1173)GTT>GTA p.V391V EMG1_uc010sfv.1_Intron|LPCAT3_uc010sfw.1_Silent_p.V285V|LPCAT3_uc009zfp.2_RNA|LPCAT3_uc010sfx.1_RNA|LPCAT3_uc009zfq.1_Silent_p.V249V NM_005768 NP_005759 Q6P1A2 MBOA5_HUMAN lysophosphatidylcholine acyltransferase 3 391 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity ovary(1) 1 TTTCCACAATAACAATGAGGA 0.547 NA 47 63 0 0 0 0 GALNT6 11226 broad.mit.edu 37 12 51773260 51773260 + Silent SNP G G A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr12:51773260G>A uc001ryk.2 - 2 531 c.306C>T c.(304-306)TTC>TTT p.F102F GALNT6_uc009zma.1_RNA|GALNT6_uc001ryl.1_Silent_p.F102F|GALNT6_uc010snh.1_Silent_p.F102F NM_007210 NP_009141 Q8NCL4 GALT6_HUMAN polypeptide N-acetylgalactosaminyltransferase 6 102 Lumenal (Potential). protein O-linked glycosylation Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2) 2 GCCGTTCCCAGAAGGGCTTCA 0.567 NA 5 118 0 0 0 0 MBD6 114785 broad.mit.edu 37 12 57919712 57919712 + Missense_Mutation SNP A A T TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr12:57919712A>T uc001soj.1 + 6 1185 c.961A>T c.(961-963)AGC>TGC p.S321C MBD6_uc001sok.1_Missense_Mutation_p.S188C|MBD6_uc001sol.1_5'Flank NM_052897 NP_443129 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 321 Pro-rich. chromosome|nucleus chromatin binding|DNA binding central_nervous_system(3)|ovary(1) 4 CTTCCTTGCTAGCAGCCTACT 0.692 NA 15 27 0 0 0 0 ATXN2 6311 broad.mit.edu 37 12 111948230 111948230 + Missense_Mutation SNP G G T TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr12:111948230G>T uc001tsj.2 - 12 2357 c.2195C>A c.(2194-2196)GCT>GAT p.A732D ATXN2_uc001tsh.2_Missense_Mutation_p.A467D|ATXN2_uc001tsi.2_Missense_Mutation_p.A443D|ATXN2_uc001tsk.2_RNA NM_002973 NP_002964 Q99700 ATX2_HUMAN ataxin 2 732 Pro-rich. cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network protein C-terminus binding|RNA binding ovary(1)|breast(1) 2 TGCAGGACTAGCAGGCGTAGG 0.493 NA 12 214 0.00136819 0.00144179 1 0 OAS1 4938 broad.mit.edu 37 12 113354483 113354483 + Missense_Mutation SNP A A G TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr12:113354483A>G uc001tud.2 + 4 930 c.824A>G c.(823-825)TAT>TGT p.Y275C OAS1_uc010syn.1_Missense_Mutation_p.Y274C|OAS1_uc010syo.1_3'UTR|OAS1_uc001tub.2_Missense_Mutation_p.Y275C|OAS1_uc001tuc.2_Missense_Mutation_p.Y275C|OAS1_uc009zwf.2_Missense_Mutation_p.Y274C NM_016816 NP_058132 P00973 OAS1_HUMAN 2',5'-oligoadenylate synthetase 1 isoform 1 275 interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding ovary(2) 2 TGGACAAAGTATTATGACTTT 0.443 NA 39 46 0 0 0 0 GLT1D1 144423 broad.mit.edu 37 12 129360459 129360459 + Silent SNP G G A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr12:129360459G>A uc010tbh.1 + 2 45 c.36G>A c.(34-36)CTG>CTA p.L12L GLT1D1_uc001uhx.1_Silent_p.R23R|GLT1D1_uc001uhy.1_RNA NM_144669 NP_653270 Q96MS3 GL1D1_HUMAN glycosyltransferase 1 domain containing 1 Error:Variant_position_missing_in_Q96MS3_after_alignment biosynthetic process extracellular region transferase activity, transferring glycosyl groups 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019) TTTGATAAAGGGCCCATCTAG 0.398 NA 55 96 0 0 0 0 EP400 57634 broad.mit.edu 37 12 132446187 132446187 + Missense_Mutation SNP C C A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr12:132446187C>A uc001ujn.2 + 1 1058 c.1023C>A c.(1021-1023)AAC>AAA p.N341K EP400_uc001ujl.2_Missense_Mutation_p.N341K|EP400_uc001ujm.2_Missense_Mutation_p.N341K|EP400_uc001ujj.1_Missense_Mutation_p.N341K|EP400_uc001ujk.2_Missense_Mutation_p.N341K NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 341 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) CTGTGGGGAACACGGGAATGA 0.612 NA 8 10 1.59e-06 1.78e-06 1 0 FNDC3A 22862 broad.mit.edu 37 13 49762701 49762701 + Missense_Mutation SNP G G C TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr13:49762701G>C uc001vcm.2 + 17 2181 c.1876G>C c.(1876-1878)GAT>CAT p.D626H FNDC3A_uc001vcn.2_Missense_Mutation_p.D626H|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcp.1_Missense_Mutation_p.D552H|FNDC3A_uc001vcq.2_Missense_Mutation_p.D570H NM_001079673 NP_001073141 Q9Y2H6 FND3A_HUMAN fibronectin type III domain containing 3A 626 Fibronectin type-III 4. Golgi membrane|integral to membrane lung(2) 2 all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.94e-09) ACATCTTTGTGATCGACTGAA 0.393 NA 7 171 0 0 0 0 ATP7B 540 broad.mit.edu 37 13 52536026 52536026 + Silent SNP C C T TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr13:52536026C>T uc001vfw.2 - 6 2050 c.1893G>A c.(1891-1893)CTG>CTA p.L631L ATP7B_uc010adv.2_Intron|ATP7B_uc001vfx.2_Intron|ATP7B_uc001vfy.2_Silent_p.L520L|ATP7B_uc010tgt.1_Silent_p.L631L|ATP7B_uc010tgu.1_Silent_p.L631L|ATP7B_uc010tgv.1_Silent_p.L631L|ATP7B_uc001vfv.2_5'Flank|ATP7B_uc010tgs.1_5'UTR|ATP7B_uc010tgw.1_Intron NM_000053 NP_000044 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 631 HMA 6.|Cytoplasmic (Potential). ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) TTCTCTGGGCCAGGGAAGCAT 0.433 NA Wilson_disease 12 43 0 0 0 0 SLITRK5 26050 broad.mit.edu 37 13 88329424 88329424 + Missense_Mutation SNP C C T TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr13:88329424C>T uc001vln.2 + 2 2000 c.1781C>T c.(1780-1782)GCG>GTG p.A594V SLITRK5_uc010tic.1_Missense_Mutation_p.A353V NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 594 LRRCT 2.|Extracellular (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) ATCTGTAAGGCGCCCAAAAAA 0.532 NA 23 136 0 0 0 0 TMTC4 84899 broad.mit.edu 37 13 101287320 101287320 + Silent SNP C C T TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr13:101287320C>T uc001vou.2 - 10 1435 c.1275G>A c.(1273-1275)CTG>CTA p.L425L TMTC4_uc001vot.2_Silent_p.L444L|TMTC4_uc010tja.1_Silent_p.L314L|TMTC4_uc001vov.1_Silent_p.L170L|TMTC4_uc001vow.1_Silent_p.L208L NM_001079669 NP_001073137 Q5T4D3 TMTC4_HUMAN transmembrane and tetratricopeptide repeat 425 Helical; (Potential). integral to membrane binding ovary(2)|breast(1) 3 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) ATCCAAAAGTCAGCAGCACAC 0.527 NA 24 40 0 0 0 0 JUB 84962 broad.mit.edu 37 14 23451169 23451169 + Nonsense_Mutation SNP G G A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr14:23451169G>A uc001whz.2 - 1 683 c.307C>T c.(307-309)CAG>TAG p.Q103* NM_032876 NP_116265 Q96IF1 JUB_HUMAN ajuba isoform 1 103 PreLIM. cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center alpha-catenin binding|zinc ion binding 0 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.0122) GGCAACGACTGAGGTAGAGGC 0.706 NA 7 1 0 0 0 0 RALGAPA1 253959 broad.mit.edu 37 14 36103939 36103939 + Missense_Mutation SNP C C A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr14:36103939C>A uc001wti.2 - 32 4709 c.4318G>T c.(4318-4320)GCT>TCT p.A1440S RALGAPA1_uc010amp.2_RNA|RALGAPA1_uc001wtj.2_Missense_Mutation_p.A1440S|RALGAPA1_uc010tpv.1_Missense_Mutation_p.A1453S|RALGAPA1_uc010tpw.1_Missense_Mutation_p.A1487S NM_014990 NP_055805 Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 1440 Minimal domain that binds to TCF3/E12 (By similarity). activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(3)|breast(1) 4 AAACACTGAGCTCCATAAACA 0.343 NA 7 45 5.18e-06 5.71e-06 1 0 PSMC6 5706 broad.mit.edu 37 14 53177865 53177865 + Missense_Mutation SNP T T A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr14:53177865T>A uc010tqx.1 + 5 347 c.347T>A c.(346-348)ATG>AAG p.M116K PSMC6_uc010tqw.1_Missense_Mutation_p.M82K NM_002806 NP_002797 P62333 PRS10_HUMAN proteasome 26S ATPase subunit 6 102 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|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 cytoplasm|nucleus|proteasome complex ATP binding|ATPase activity|protein binding, bridging lung(1) 1 Breast(41;0.176) GCTTTGGATATGACTACACTA 0.328 NA 49 31 0 0 0 0 TRIP11 9321 broad.mit.edu 37 14 92471192 92471192 + Missense_Mutation SNP G G C TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr14:92471192G>C uc001xzy.2 - 11 3916 c.3128C>G c.(3127-3129)ACT>AGT p.T1043S TRIP11_uc010auf.1_Missense_Mutation_p.T779S NM_004239 NP_004230 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1043 Potential. transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1) 13 COAD - Colon adenocarcinoma(157;0.223) AATCTGTTTAGTTAAAGATAT 0.318 NA T PDGFRB AML 23 35 0 0 0 0 CEP152 22995 broad.mit.edu 37 15 49083442 49083442 + Missense_Mutation SNP C C T TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr15:49083442C>T uc001zwy.2 - 8 998 c.964G>A c.(964-966)GAA>AAA p.E322K CEP152_uc001zwz.2_Missense_Mutation_p.E322K|CEP152_uc001zxa.1_Missense_Mutation_p.E229K NM_014985 NP_055800 O94986 CE152_HUMAN centrosomal protein 152kDa 322 Potential. centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding lung(2) 2 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) ACCTGTTCTTCATTGACTTTT 0.299 NA 17 41 0 0 0 0 WDR72 256764 broad.mit.edu 37 15 53889439 53889439 + Silent SNP C C T TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr15:53889439C>T uc002acj.2 - 18 3027 c.2985G>A c.(2983-2985)GCG>GCA p.A995A NM_182758 NP_877435 Q3MJ13 WDR72_HUMAN WD repeat domain 72 995 lung(1)|skin(1) 2 all cancers(107;0.0511) GTTGAACTTCCGCCAAGAGAA 0.378 NA 9 148 0 0 0 0 IQCH 64799 broad.mit.edu 37 15 67757466 67757466 + Missense_Mutation SNP T T C TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr15:67757466T>C uc002aqo.1 + 17 2554 c.2507T>C c.(2506-2508)GTG>GCG p.V836A IQCH_uc002aqq.1_Missense_Mutation_p.V493A|IQCH_uc002aqp.1_Missense_Mutation_p.V497A|uc002aqr.1_Intron NM_001031715 NP_001026885 Q86VS3 IQCH_HUMAN IQ motif containing H isoform 1 836 skin(3)|ovary(1) 4 Colorectal(3;0.0856) TTTAATCAGGTGTGGGCAACC 0.517 NA 5 80 0 0 0 0 AKAP13 11214 broad.mit.edu 37 15 86201776 86201776 + Missense_Mutation SNP G G T TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr15:86201776G>T uc002blv.1 + 12 4924 c.4754G>T c.(4753-4755)CGA>CTA p.R1585L AKAP13_uc002blt.1_Intron|AKAP13_uc002blu.1_Intron|AKAP13_uc010bnf.1_Intron|AKAP13_uc002blw.1_Intron|AKAP13_uc010bne.1_Missense_Mutation_p.R238L NM_007200 NP_009131 Q12802 AKP13_HUMAN A-kinase anchor protein 13 isoform 2 1585 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|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1) 9 AGTTCAATGCGAGTTCTTGGG 0.433 NA 6 131 0.00307968 0.0032217 1 0 NOXO1 124056 broad.mit.edu 37 16 2030459 2030459 + Missense_Mutation SNP C C T TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr16:2030459C>T uc002cnx.2 - 4 329 c.325G>A c.(325-327)GCG>ACG p.A109T NOXO1_uc002cnz.2_Missense_Mutation_p.A103T|NOXO1_uc002coa.2_Missense_Mutation_p.A108T|NOXO1_uc002cny.2_Missense_Mutation_p.A104T NM_172168 NP_751908 Q8NFA2 NOXO1_HUMAN NADPH oxidase organizer 1 isoform c 109 PX. cell communication|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst NADPH oxidase complex enzyme binding|phosphatidylinositol binding|superoxide-generating NADPH oxidase activator activity 0 TCTGCAGTCGCCAGCAGCCTC 0.682 NA 14 24 0 0 0 0 MMP25 64386 broad.mit.edu 37 16 3100445 3100445 + Missense_Mutation SNP G G A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr16:3100445G>A uc002cth.2 + 4 796 c.559G>A c.(559-561)GGG>AGG p.G187R MMP25_uc002cti.1_Missense_Mutation_p.G123R NM_022468 NP_071913 Q9NPA2 MMP25_HUMAN matrix metalloproteinase 25 preproprotein 187 inflammatory response|proteolysis anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding 0 CCCCTTCGACGGGTTGGGGGG 0.612 NA 8 41 0 0 0 0 ACSM3 6296 broad.mit.edu 37 16 20781491 20781491 + Silent SNP C C T TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr16:20781491C>T uc002dhr.2 + 2 322 c.135C>T c.(133-135)TCC>TCT p.S45S ACSM3_uc002dhq.2_Silent_p.S45S|ACSM3_uc010vba.1_Silent_p.S37S NM_005622 NP_005613 Q53FZ2 ACSM3_HUMAN SA hypertension-associated homolog isoform 1 45 regulation of blood pressure mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding ovary(1) 1 ACTATGAATCCATGAAACAGG 0.443 NA 31 49 0 0 0 0 LYRM1 57149 broad.mit.edu 37 16 20927015 20927015 + Silent SNP G G A rs138841536 by1000genomes TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr16:20927015G>A uc010bwj.2 + 2 439 c.138G>A c.(136-138)ACG>ACA p.T46T LYRM1_uc010bwi.1_RNA|LYRM1_uc010bwk.2_Intron|LYRM1_uc002dia.3_Silent_p.T46T|LYRM1_uc010bwl.2_Silent_p.T46T|LYRM1_uc010bwm.2_Intron|LYRM1_uc002dib.2_Silent_p.T46T NM_020424 NP_065157 O43325 LYRM1_HUMAN LYR motif containing 1 46 nucleus 0 AAGCCAGAACGCTGTTCCGGA 0.423 NA 26 43 0 0 0 0 GTF3C1 2975 broad.mit.edu 37 16 27476145 27476145 + Nonsense_Mutation SNP G G A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr16:27476145G>A uc002dov.1 - 34 5408 c.5368C>T c.(5368-5370)CAG>TAG p.Q1790* GTF3C1_uc002dou.2_Nonsense_Mutation_p.Q1790* NM_001520 NP_001511 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1790 transcription factor TFIIIC complex DNA binding|protein binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 ACCTGATGCTGCTCCAGGAGG 0.677 NA 9 17 0 0 0 0 CHST5 23563 broad.mit.edu 37 16 75564112 75564112 + Silent SNP G G A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr16:75564112G>A uc002fei.2 - 3 1566 c.171C>T c.(169-171)GCC>GCT p.A57A CHST5_uc002fej.1_Silent_p.A63A NM_024533 NP_078809 Q9GZS9 CHST5_HUMAN carbohydrate (N-acetylglucosamine 6-O) 57 Lumenal (Potential). N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane N-acetylglucosamine 6-O-sulfotransferase activity 0 CCTCGCCGCCGGCTGGGGATG 0.647 NA 8 16 0 0 0 0 GSG2 83903 broad.mit.edu 37 17 3627636 3627636 + Missense_Mutation SNP C C T TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr17:3627636C>T uc002fwp.2 + 1 440 c.407C>T c.(406-408)CCG>CTG p.P136L ITGAE_uc002fwo.3_Intron|ITGAE_uc002fwn.3_5'Flank NM_031965 NP_114171 Q8TF76 HASP_HUMAN haspin 136 cell cycle|chromatin modification|intracellular protein kinase cascade nucleus ATP binding|protein serine/threonine kinase activity 0 CTCCGACTTCCGCCCTTCCCC 0.726 NA 3 5 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7577572 7577572 + Missense_Mutation SNP T T C TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr17:7577572T>C uc002gim.2 - 7 903 c.709A>G c.(709-711)ATG>GTG p.M237V TP53_uc002gig.1_Missense_Mutation_p.M237V|TP53_uc002gih.2_Missense_Mutation_p.M237V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.M105V|TP53_uc010cng.1_Missense_Mutation_p.M105V|TP53_uc002gii.1_Missense_Mutation_p.M105V|TP53_uc010cnh.1_Missense_Mutation_p.M237V|TP53_uc010cni.1_Missense_Mutation_p.M237V|TP53_uc002gij.2_Missense_Mutation_p.M237V|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.M144V|TP53_uc002gio.2_Missense_Mutation_p.M105V NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 237 |Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). M -> L (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.M237I(97)|p.M237K(8)|p.0?(7)|p.M237V(6)|p.M237fs*10(4)|p.M237R(3)|p.M237T(2)|p.M237L(2)|p.Y236_M237delYM(1)|p.Y236_M237insXX(1)|p.M237_N239delMCN(1)|p.H233fs*6(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.Y236_M237>*L(1)|p.H233_C242del10(1)|p.M237fs*1(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CTGTTACACATGTAGTTGTAG 0.572 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 31 54 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578394 7578394 + Missense_Mutation SNP T T C TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr17:7578394T>C uc002gim.2 - 5 730 c.536A>G c.(535-537)CAT>CGT p.H179R TP53_uc002gig.1_Missense_Mutation_p.H179R|TP53_uc002gih.2_Missense_Mutation_p.H179R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H47R|TP53_uc010cng.1_Missense_Mutation_p.H47R|TP53_uc002gii.1_Missense_Mutation_p.H47R|TP53_uc010cnh.1_Missense_Mutation_p.H179R|TP53_uc010cni.1_Missense_Mutation_p.H179R|TP53_uc002gij.2_Missense_Mutation_p.H179R|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.H86R|TP53_uc002gio.2_Missense_Mutation_p.H47R|TP53_uc010vug.1_Missense_Mutation_p.H140R NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 179 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Zinc. H -> Q (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> D (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.H179R(99)|p.H179Y(74)|p.H179L(31)|p.H179Q(17)|p.H179N(13)|p.H179D(10)|p.P177_C182delPHHERC(8)|p.0?(7)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.R175_E180delRCPHHE(3)|p.H179fs*68(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCAGCGCTCATGGTGGGGGCA 0.642 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 16 39 0 0 0 0 PFAS 5198 broad.mit.edu 37 17 8170154 8170154 + Missense_Mutation SNP C C G TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr17:8170154C>G uc002gkr.2 + 23 3046 c.2905C>G c.(2905-2907)CGG>GGG p.R969G PFAS_uc010vuv.1_Missense_Mutation_p.R545G|PFAS_uc002gks.2_Missense_Mutation_p.R48G NM_012393 NP_036525 O15067 PUR4_HUMAN phosphoribosylformylglycinamidine synthase 969 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding ovary(2)|central_nervous_system(2)|pancreas(1) 5 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GAAGCGTTACCGGGATGCTGG 0.662 NA 15 28 0 0 0 0 DNAH9 1770 broad.mit.edu 37 17 11648369 11648369 + Nonsense_Mutation SNP A A T TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr17:11648369A>T uc002gne.2 + 31 6435 c.6367A>T c.(6367-6369)AAG>TAG p.K2123* DNAH9_uc010coo.2_Nonsense_Mutation_p.K1417* NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 2123 AAA 2 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AGTGGATCTGAAGCTCCAGGC 0.512 NA 39 73 0 0 0 0 GOSR1 9527 broad.mit.edu 37 17 28808253 28808253 + Missense_Mutation SNP A A T TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr17:28808253A>T uc002hfe.2 + 2 150 c.124A>T c.(124-126)ACC>TCC p.T42S GOSR1_uc002hfd.2_Missense_Mutation_p.T42S|GOSR1_uc002hff.2_5'UTR|GOSR1_uc002hfc.1_Missense_Mutation_p.T42S NM_004871 NP_004862 O95249 GOSR1_HUMAN golgi SNAP receptor complex member 1 isoform 1 42 Cytoplasmic (Potential). intra-Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi Golgi membrane|integral to membrane|SNARE complex SNAP receptor activity 0 TCATAGCAGTACCCGAGATGG 0.373 NA 27 47 0 0 0 0 RAD51L3 5892 broad.mit.edu 37 17 33445520 33445520 + Missense_Mutation SNP C C A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr17:33445520C>A uc002hir.2 - 3 519 c.263G>T c.(262-264)AGT>ATT p.S88I RFFL_uc002hiq.2_Intron|RAD51L3_uc010wcd.1_Intron|RAD51L3_uc002his.2_Intron|RAD51L3_uc010ctk.2_Translation_Start_Site|RAD51L3_uc010wce.1_5'UTR|RAD51L3_uc002hit.2_Intron|RAD51L3_uc002hiu.2_Intron|RAD51L3_uc010wcf.1_RNA|RAD51L3_uc002hiw.1_RNA|RAD51L3_uc002hiv.1_RNA|RAD51L3_uc010ctl.1_RNA|RAD51L3_uc010ctm.1_RNA NM_002878 NP_002869 O75771 RA51D_HUMAN RAD51-like 3 isoform 1 88 DNA repair|reciprocal meiotic recombination nucleus ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding 0 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) ACACACAAACCTGCCAATGCC 0.557 NA Direct_reversal_of_damage|Homologous_recombination 13 93 6.72e-11 7.77e-11 1 0 AMAC1 146861 broad.mit.edu 37 17 33521249 33521249 + Silent SNP G G A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr17:33521249G>A uc002hjd.2 - 1 164 c.78C>T c.(76-78)CGC>CGT p.R26R NM_152462 NP_689675 Q8N808 AMAC1_HUMAN acyl-malonyl condensing enzyme 1 26 integral to membrane 0 BRCA - Breast invasive adenocarcinoma(366;0.0917) GCTGGTACCAGCGGAGGCTGG 0.652 NA 33 41 0 0 0 0 RPL23 9349 broad.mit.edu 37 17 37008939 37008939 + Silent SNP C C T TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr17:37008939C>T uc002hqx.1 - 3 234 c.144G>A c.(142-144)CGG>CGA p.R48R RPL23_uc002hqw.1_5'UTR|RPL23_uc002hqy.1_Silent_p.R48R NM_000978 NP_000969 P62829 RL23_HUMAN ribosomal protein L23 48 endocrine pancreas development|ribosomal protein import into nucleus|translational elongation|translational termination|viral transcription cytosol|ribosome protein binding|structural constituent of ribosome 0 GTCTGTTCAGCCGTCCCTTGA 0.473 NA 38 49 0 0 0 0 HEXIM1 10614 broad.mit.edu 37 17 43227082 43227082 + Silent SNP G G A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr17:43227082G>A uc002iig.2 + 1 2399 c.525G>A c.(523-525)AAG>AAA p.K175K NM_006460 NP_006451 O94992 HEXI1_HUMAN hexamethylene bis-acetamide inducible 1 175 Basic region; mediates nuclear localization and interaction with 7SK snRNA and NR3C1. negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding ovary(1) 1 GGGAAGAGAAGAAAAAGTTCG 0.547 NA OREG0024474 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 32 63 0 0 0 0 SNX11 29916 broad.mit.edu 37 17 46196402 46196402 + Silent SNP G G A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr17:46196402G>A uc002inf.1 + 7 747 c.393G>A c.(391-393)TCG>TCA p.S131S SNX11_uc010wlg.1_Silent_p.S123S|SNX11_uc010wlh.1_Silent_p.S123S|SNX11_uc010wli.1_Silent_p.S70S|SNX11_uc010wlj.1_5'UTR|SNX11_uc002ing.1_Silent_p.S131S|SNX11_uc002inh.1_Silent_p.S131S NM_152244 NP_689450 Q9Y5W9 SNX11_HUMAN sorting nexin 11 131 PX. cell communication|protein transport membrane phosphatidylinositol binding 0 GCCAGCTCTCGGTGCCTGAGA 0.532 NA 15 116 0 0 0 0 SLC39A6 25800 broad.mit.edu 37 18 33706965 33706965 + Silent SNP C C T TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr18:33706965C>T uc010dmy.2 - 2 296 c.6G>A c.(4-6)GCG>GCA p.A2A SLC39A6_uc002kzj.2_Intron|ELP2_uc002kzk.1_5'Flank|ELP2_uc010xcg.1_5'Flank|ELP2_uc002kzl.1_5'Flank|ELP2_uc002kzm.1_5'Flank|ELP2_uc010xch.1_5'Flank|ELP2_uc002kzn.1_5'Flank|ELP2_uc002kzo.1_5'Flank NM_012319 NP_036451 Q13433 S39A6_HUMAN solute carrier family 39 (zinc transporter), 2 integral to membrane|lamellipodium membrane zinc ion transmembrane transporter activity ovary(1)|pancreas(1) 2 ATAACTTCCTCGCCATTGCGC 0.383 NA 21 44 0 0 0 0 RDH8 50700 broad.mit.edu 37 19 10127887 10127887 + Silent SNP G G A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr19:10127887G>A uc002mmr.2 + 2 507 c.258G>A c.(256-258)GTG>GTA p.V86V NM_015725 NP_056540 Q9NYR8 RDH8_HUMAN retinol dehydrogenase 8 (all-trans) 86 Helical; (Potential). estrogen biosynthetic process|response to stimulus|visual perception cytoplasm|integral to plasma membrane binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity ovary(3)|pancreas(1) 4 Epithelial(33;4.24e-05) Vitamin A(DB00162) AAGTGGACGTGCTGGGTGAGA 0.587 NA 7 13 0 0 0 0 ZNF440 126070 broad.mit.edu 37 19 11942884 11942884 + Missense_Mutation SNP A A G TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr19:11942884A>G uc002msp.1 + 4 1049 c.893A>G c.(892-894)TAT>TGT p.Y298C NM_152357 NP_689570 Q8IYI8 ZN440_HUMAN zinc finger protein 440 298 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TGTCCCCGTTATGTTCGTATA 0.398 NA 21 60 0 0 0 0 C19orf2 8725 broad.mit.edu 37 19 30496290 30496290 + Silent SNP C C T TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr19:30496290C>T uc002nsr.2 + 5 420 c.390C>T c.(388-390)GAC>GAT p.D130D C19orf2_uc002nsq.2_Silent_p.D112D|C19orf2_uc002nss.2_Silent_p.D90D|C19orf2_uc002nst.2_Silent_p.D54D NM_003796 NP_003787 O94763 RMP_HUMAN RPB5-mediating protein isoform a 130 protein folding|regulation of transcription from RNA polymerase II promoter|response to virus DNA-directed RNA polymerase II, core complex|prefoldin complex transcription corepressor activity|unfolded protein binding ovary(1)|kidney(1) 2 Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195) Hepatocellular(1079;0.137)|Renal(1328;0.228) STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115) STAD - Stomach adenocarcinoma(1328;0.18) CAATAGATGACTTAAAAAAAG 0.299 NA 5 16 0 0 0 0 ZNF585A 199704 broad.mit.edu 37 19 37643886 37643886 + Silent SNP T T C TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr19:37643886T>C uc002ofo.1 - 5 1146 c.915A>G c.(913-915)AAA>AAG p.K305K ZNF585A_uc002ofm.1_Silent_p.K250K|ZNF585A_uc002ofn.1_Silent_p.K250K NM_199126 NP_954577 Q6P3V2 Z585A_HUMAN zinc finger protein 585A 305 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AAATGAAGGATTTGCCACAGT 0.418 NA 92 142 0 0 0 0 ZNF569 148266 broad.mit.edu 37 19 37903627 37903627 + Missense_Mutation SNP G G C TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr19:37903627G>C uc002ogi.2 - 6 2491 c.1933C>G c.(1933-1935)CAA>GAA p.Q645E ZNF569_uc002ogh.2_Missense_Mutation_p.Q486E|ZNF569_uc002ogj.2_Missense_Mutation_p.Q669E NM_152484 NP_689697 Q5MCW4 ZN569_HUMAN zinc finger protein 569 645 C2H2-type 17. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|skin(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GATGAGATTTGAGAGAAGGCT 0.433 NA 7 115 0 0 0 0 IL28B 282617 broad.mit.edu 37 19 39735130 39735130 + Missense_Mutation SNP T T A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr19:39735130T>A uc010xut.1 - 2 189 c.185A>T c.(184-186)GAG>GTG p.E62V IL28B_uc010xuu.1_Missense_Mutation_p.E62V NM_172139 NP_742151 Q8IZI9 IL28B_HUMAN interleukin 28B 62 response to virus extracellular space cytokine activity 0 all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315) Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) CAGAAGCGACTCTTCCTAGAC 0.617 NA 3 12 0 0 0 0 MAP3K10 4294 broad.mit.edu 37 19 40698536 40698536 + Missense_Mutation SNP G G A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr19:40698536G>A uc002ona.2 + 1 886 c.598G>A c.(598-600)GCT>ACT p.A200T NM_002446 NP_002437 Q02779 M3K10_HUMAN mitogen-activated protein kinase kinase kinase 200 Protein kinase. activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway cytoplasm ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity ovary(2)|lung(2)|skin(1)|pancreas(1) 6 GGTCAACTGGGCTGTGCAGGT 0.622 NA 14 15 0 0 0 0 ADCK4 79934 broad.mit.edu 37 19 41198104 41198105 + Nonsense_Mutation DNP TG TG AA TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr19:41198104_41198105TG>AA uc002oor.2 - 15 1772_1773 c.1470_1471CA>TT c.(1468-1473)CGCAAG>CGTTAG p.K491* NUMBL_uc010xvq.1_5'Flank|NUMBL_uc002oon.2_5'Flank|NUMBL_uc002ooo.2_5'Flank|NUMBL_uc010xvr.1_5'Flank|ADCK4_uc002oop.1_Nonsense_Mutation_p.K168*|ADCK4_uc002ooq.1_Nonsense_Mutation_p.K450* NM_024876 NP_079152 Q96D53 ADCK4_HUMAN aarF domain containing kinase 4 isoform a 491 integral to membrane protein serine/threonine kinase activity 0 Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219) CCTGCCAGCTTGCGGTGCAGGG 0.683 NA 5 8 0 0 0 0 DEDD2 162989 broad.mit.edu 37 19 42720875 42720875 + Silent SNP G G A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr19:42720875G>A uc002osu.1 - 2 353 c.285C>T c.(283-285)CGC>CGT p.R95R DEDD2_uc002osv.1_Intron|DEDD2_uc002osw.1_Silent_p.R95R|DEDD2_uc002osx.1_Intron|DEDD2_uc002osy.1_Silent_p.R95R NM_133328 NP_579874 Q8WXF8 DEDD2_HUMAN death effector domain-containing DNA binding 95 DED. 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) GCAGGTCGTGGCGGGCCAGCA 0.716 NA 10 11 0 0 0 0 NAPA 8775 broad.mit.edu 37 19 47996260 47996260 + Silent SNP C C T TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr19:47996260C>T uc002pha.1 - 7 819 c.519G>A c.(517-519)GCG>GCA p.A173A uc002pgz.1_Intron|NAPA_uc002phb.1_Silent_p.A134A|NAPA_uc002phc.1_Silent_p.A60A|NAPA_uc002phd.1_Silent_p.A173A|NAPA_uc010elf.1_Silent_p.A67A NM_003827 NP_003818 P54920 SNAA_HUMAN N-ethylmaleimide-sensitive factor attachment 173 cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport cytosol 0 all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049) GCTCCAGCAGCGCAGCGTAAC 0.642 NA 7 87 0 0 0 0 SIGLEC9 27180 broad.mit.edu 37 19 51628589 51628589 + Missense_Mutation SNP C C T rs147625837 TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr19:51628589C>T uc002pvu.2 + 1 425 c.358C>T c.(358-360)CGT>TGT p.R120C SIGLEC9_uc010yct.1_Missense_Mutation_p.R120C NM_014441 NP_055256 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 precursor 120 Extracellular (Potential).|Ig-like V-type. Sialic acid (By similarity). R->K: Loss of sialic acid binding. cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding skin(1) 1 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) ATACTTCTTTCGTATGGAGAA 0.498 NA 24 64 0 0 0 0 ZNF530 348327 broad.mit.edu 37 19 58117075 58117075 + Missense_Mutation SNP A A G TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr19:58117075A>G uc002qpk.2 + 3 402 c.182A>G c.(181-183)GAT>GGT p.D61G ZNF547_uc002qpm.3_Intron|ZNF530_uc002qpl.2_RNA NM_020880 NP_065931 Q6P9A1 ZN530_HUMAN zinc finger protein 530 61 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) GGAGCAGTAGATGAGGGGACG 0.463 NA 33 54 0 0 0 0 OTOF 9381 broad.mit.edu 37 2 26700047 26700047 + Missense_Mutation SNP G G A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr2:26700047G>A uc002rhk.2 - 21 2643 c.2516C>T c.(2515-2517)GCG>GTG p.A839V OTOF_uc002rhh.2_Missense_Mutation_p.A92V|OTOF_uc002rhi.2_Missense_Mutation_p.A149V|OTOF_uc002rhj.2_Missense_Mutation_p.A92V NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 839 Cytoplasmic (Potential). cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CACCTCGTCCGCCAGGAAGCG 0.682 NA 3 18 0 0 0 0 QPCT 25797 broad.mit.edu 37 2 37586939 37586939 + Missense_Mutation SNP G G A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr2:37586939G>A uc002rqg.2 + 3 606 c.484G>A c.(484-486)GTG>ATG p.V162M QPCT_uc002rqh.2_Missense_Mutation_p.V113M NM_012413 NP_036545 Q16769 QPCT_HUMAN glutaminyl-peptide cyclotransferase precursor 162 peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis extracellular region acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding central_nervous_system(1) 1 Ovarian(717;0.051)|all_hematologic(82;0.21) TGATTCAGCCGTGCCATGTGC 0.443 NA 39 96 0 0 0 0 BCL11A 53335 broad.mit.edu 37 2 60688292 60688292 + Missense_Mutation SNP G G C TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr2:60688292G>C uc002sae.1 - 4 1983 c.1755C>G c.(1753-1755)TGC>TGG p.C585W BCL11A_uc002sab.2_Missense_Mutation_p.C585W|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Missense_Mutation_p.C254W|BCL11A_uc010ypj.1_Missense_Mutation_p.C551W|BCL11A_uc002sad.1_Missense_Mutation_p.C433W|BCL11A_uc002saf.1_Missense_Mutation_p.C551W NM_022893 NP_075044 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A isoform 1 585 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|cytoplasm|nucleus|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding central_nervous_system(6)|breast(3)|ovary(2)|skin(2) 13 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) AGTCTTCGTCGCAAGTGTCCC 0.682 NA T IGH@ B-CLL 12 30 0 0 0 0 MTHFD2 10797 broad.mit.edu 37 2 74441326 74441326 + Missense_Mutation SNP G G A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr2:74441326G>A uc002skk.2 + 8 1089 c.1010G>A c.(1009-1011)CGA>CAA p.R337Q SLC4A5_uc002skl.2_Intron|MTHFD2_uc002skj.2_Missense_Mutation_p.R235Q|MTHFD2_uc010yro.1_Missense_Mutation_p.R235Q|MTHFD2_uc010ffb.2_Missense_Mutation_p.R254Q|MTHFD2_uc010yrp.1_Missense_Mutation_p.R173Q NM_006636 NP_006627 P13995 MTDC_HUMAN methylenetetrahydrofolate dehydrogenase 2 337 folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding 0 NADH(DB00157)|Tetrahydrofolic acid(DB00116) CTTGAAGAGCGAGAAGTGCTG 0.468 NA 35 64 0 0 0 0 CHN1 1123 broad.mit.edu 37 2 175779816 175779816 + Missense_Mutation SNP C C T TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr2:175779816C>T uc002uji.2 - 5 760 c.230G>A c.(229-231)CGG>CAG p.R77Q CHN1_uc010zeq.1_Missense_Mutation_p.R77Q|CHN1_uc002ujj.2_5'UTR NM_001822 NP_001813 P15882 CHIN_HUMAN chimerin (chimaerin) 1 isoform a 77 SH2. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.226) CCCTGGCTGCCGCTGGCTCTC 0.463 NA T TAF15 extraskeletal myxoid chondrosarcoma 3 16 0 0 0 0 CERKL 375298 broad.mit.edu 37 2 182403829 182403829 + Missense_Mutation SNP C C T TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr2:182403829C>T uc002unx.2 - 13 1707 c.1606G>A c.(1606-1608)GTC>ATC p.V536I CERKL_uc002uny.2_Missense_Mutation_p.V510I|CERKL_uc010zfm.1_Missense_Mutation_p.V492I|CERKL_uc002unz.2_Missense_Mutation_p.V258I|CERKL_uc002uoa.2_Missense_Mutation_p.V441I|CERKL_uc002uob.2_Missense_Mutation_p.V258I|CERKL_uc002uoc.2_Missense_Mutation_p.V397I|CERKL_uc010frk.2_RNA|CERKL_uc002unw.2_Missense_Mutation_p.V106I NM_001030311 NP_001025482 Q49MI3 CERKL_HUMAN ceramide kinase-like isoform b 536 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus diacylglycerol kinase activity ovary(2)|kidney(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.088) CTAATATGGACCTCTGATGCA 0.318 NA 27 45 0 0 0 0 GULP1 51454 broad.mit.edu 37 2 189434779 189434779 + Missense_Mutation SNP A A G TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr2:189434779A>G uc010fru.2 + 9 1002 c.541A>G c.(541-543)ATG>GTG p.M181V GULP1_uc002uqd.2_Missense_Mutation_p.M181V|GULP1_uc010zfw.1_Missense_Mutation_p.M78V|GULP1_uc002uqf.2_Missense_Mutation_p.M181V|GULP1_uc002uqg.2_Missense_Mutation_p.M181V|GULP1_uc002uqh.1_Missense_Mutation_p.M1V NM_016315 NP_057399 Q9UBP9 GULP1_HUMAN GULP, engulfment adaptor PTB domain containing 181 Potential. apoptosis|lipid transport|phagocytosis, engulfment cytoplasm|intracellular membrane-bounded organelle signal transducer activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158) AACAGAAAATATGGAACTTAA 0.289 NA 14 24 0 0 0 0 SATB2 23314 broad.mit.edu 37 2 200173524 200173524 + Missense_Mutation SNP G G A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr2:200173524G>A uc002uuy.1 - 10 2516 c.1699C>T c.(1699-1701)CGC>TGC p.R567C SATB2_uc010fsq.1_Missense_Mutation_p.R449C|SATB2_uc002uuz.1_Missense_Mutation_p.R567C|SATB2_uc002uva.1_Missense_Mutation_p.R567C NM_015265 NP_056080 Q9UPW6 SATB2_HUMAN SATB homeobox 2 567 cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity ovary(1) 1 TGTTGCATGCGTTCGCTGTGG 0.597 NA 20 75 0 0 0 0 FN1 2335 broad.mit.edu 37 2 216284069 216284069 + Missense_Mutation SNP A A T rs150405747 TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr2:216284069A>T uc002vfa.2 - 12 1981 c.1715T>A c.(1714-1716)ATT>AAT p.I572N FN1_uc002vfb.2_Missense_Mutation_p.I572N|FN1_uc002vfc.2_Missense_Mutation_p.I572N|FN1_uc002vfd.2_Missense_Mutation_p.I572N|FN1_uc002vfe.2_Missense_Mutation_p.I572N|FN1_uc002vff.2_Missense_Mutation_p.I572N|FN1_uc002vfg.2_Missense_Mutation_p.I572N|FN1_uc002vfh.2_Missense_Mutation_p.I572N|FN1_uc002vfi.2_Missense_Mutation_p.I572N|FN1_uc002vfj.2_Missense_Mutation_p.I572N|FN1_uc002vfl.2_Missense_Mutation_p.I572N NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 572 Fibronectin type-I 9.|Collagen-binding. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGAATCTCCAATTTGATAAAA 0.418 NA 14 34 0 0 0 0 STK36 27148 broad.mit.edu 37 2 219540848 219540848 + Silent SNP C C T TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr2:219540848C>T uc002viu.2 + 6 797 c.531C>T c.(529-531)TAC>TAT p.Y177Y STK36_uc002viv.2_Silent_p.Y177Y NM_015690 NP_056505 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 177 Protein kinase. cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1) 11 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) AGCGACCATACGACCACACAG 0.532 NA 7 132 0 0 0 0 UGT1A5 54579 broad.mit.edu 37 2 234621836 234621836 + Missense_Mutation SNP A A G TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr2:234621836A>G uc002vuw.2 + 1 199 c.199A>G c.(199-201)ATG>GTG p.M67V UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Missense_Mutation_p.M67V NM_019078 NP_061951 P35504 UD15_HUMAN UDP glycosyltransferase 1 family, polypeptide A5 67 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(1) 1 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645) GGAGGTGAATATGTACATCAA 0.547 NA 23 49 0 0 0 0 COL6A3 1293 broad.mit.edu 37 2 238303780 238303780 + Missense_Mutation SNP T T A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr2:238303780T>A uc002vwl.2 - 3 444 c.159A>T c.(157-159)GAA>GAT p.E53D COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Intron|COL6A3_uc002vwr.2_Intron|COL6A3_uc010znk.1_Missense_Mutation_p.E53D NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 53 VWFA 1.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GTTGGAAATGTTCCTCTCCAA 0.368 NA 15 23 0 0 0 0 SLC23A2 9962 broad.mit.edu 37 20 4864369 4864369 + Missense_Mutation SNP G G A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr20:4864369G>A uc002wlg.1 - 9 1118 c.743C>T c.(742-744)ACA>ATA p.T248I SLC23A2_uc010zqr.1_Intron|SLC23A2_uc002wlh.1_Missense_Mutation_p.T248I|SLC23A2_uc002wli.2_Missense_Mutation_p.T247I NM_005116 NP_005107 Q9UGH3 S23A2_HUMAN solute carrier family 23 (nucleobase 248 Helical; (Potential). 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 CACCGTGGGTGTAATGGTCAA 0.582 NA 4 78 0 0 0 0 GNAS 2778 broad.mit.edu 37 20 57428562 57428562 + Missense_Mutation SNP T T A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr20:57428562T>A uc002xzw.2 + 1 527 c.242T>A c.(241-243)CTC>CAC p.L81H GNASAS_uc002xzs.1_5'Flank|GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA NM_080425 NP_536350 P63092 GNAS2_HUMAN GNAS complex locus XLas Error:Variant_position_missing_in_P63092_after_alignment activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1) 292 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) TTTCAGGTCCTCAACCCGGCA 0.612 NA Mis pituitary adenoma McCune-Albright syndrome; pseudohypoparathyroidism|type IA 3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome TSP Lung(22;0.16) 3 22 0 0 0 0 DSCAM 1826 broad.mit.edu 37 21 41385184 41385184 + Missense_Mutation SNP C C T TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr21:41385184C>T uc002yyq.1 - 33 6268 c.5816G>A c.(5815-5817)CGC>CAC p.R1939H DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 1939 Cytoplasmic (Potential). HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GACCGTGGGGCGCTTCAGGGT 0.612 NA 11 21 0 0 0 0 COL6A2 1292 broad.mit.edu 37 21 47532166 47532166 + Missense_Mutation SNP G G A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr21:47532166G>A uc002zia.1 + 3 471 c.389G>A c.(388-390)CGC>CAC p.R130H COL6A2_uc002zhy.1_Missense_Mutation_p.R130H|COL6A2_uc002zhz.1_Missense_Mutation_p.R130H|COL6A2_uc002zib.1_Intron NM_001849 NP_001840 P12110 CO6A2_HUMAN alpha 2 type VI collagen isoform 2C2 precursor 130 VWFA 1.|Nonhelical region. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging central_nervous_system(7)|ovary(1) 8 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) TCCTTCCGCCGCGGCACCTTC 0.672 NA 18 28 0 0 0 0 BCR 613 broad.mit.edu 37 22 23523321 23523321 + Silent SNP C C T TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr22:23523321C>T uc002zww.2 + 1 770 c.174C>T c.(172-174)TAC>TAT p.Y58Y BCR_uc002zwx.2_Silent_p.Y58Y NM_004327 NP_004318 P11274 BCR_HUMAN breakpoint cluster region isoform 1 58 Kinase. regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity BCR/JAK2(6) haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(3)|urinary_tract(1)|lung(1)|skin(1) 12 GCATGATCTACCTGCAGACGT 0.677 NA T ABL1| FGFR1|JAK2 CML|ALL|AML 3 8 0 0 0 0 TRMU 55687 broad.mit.edu 37 22 46748195 46748195 + Missense_Mutation SNP T T C TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr22:46748195T>C uc003bhp.2 + 7 1104 c.740T>C c.(739-741)ATA>ACA p.I247T TRMU_uc011arb.1_Missense_Mutation_p.I247T|TRMU_uc003bhq.2_Missense_Mutation_p.I29T|TRMU_uc003bhs.2_Missense_Mutation_p.I247T|TRMU_uc003bhr.2_Missense_Mutation_p.I133T|TRMU_uc003bht.2_Missense_Mutation_p.I100T|TRMU_uc003bhu.2_Missense_Mutation_p.I29T|TRMU_uc003bhv.2_Missense_Mutation_p.I100T NM_018006 NP_060476 O75648 MTU1_HUMAN tRNA 5-methylaminomethyl-2-thiouridylate 247 mitochondrion ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding ovary(1) 1 Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248) TTTATTTCCATAGAAGACAAT 0.502 NA 85 133 0 0 0 0 NUP210 23225 broad.mit.edu 37 3 13377046 13377046 + Missense_Mutation SNP T T C TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr3:13377046T>C uc003bxv.1 - 28 3834 c.3751A>G c.(3751-3753)ACC>GCC p.T1251A NM_024923 NP_079199 Q8TEM1 PO210_HUMAN nucleoporin 210 precursor 1251 Lumenal (Probable). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1) 11 all_neural(104;0.187) CTCAGCCCGGTCCGGCCTTTT 0.592 NA 8 37 0 0 0 0 FBLN2 2199 broad.mit.edu 37 3 13679190 13679190 + Missense_Mutation SNP C C T rs112412824 TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr3:13679190C>T uc011avb.1 + 17 3451 c.3326C>T c.(3325-3327)GCG>GTG p.A1109V FBLN2_uc011auz.1_Missense_Mutation_p.A1135V|FBLN2_uc011ava.1_Missense_Mutation_p.A1156V|FBLN2_uc011avc.1_Missense_Mutation_p.A1156V NM_001998 NP_001989 P98095 FBLN2_HUMAN fibulin 2 isoform b precursor 1109 Domain III. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) ATTGGCCCCGCGCCAGCCTTC 0.622 NA 9 0 0 0 0 0 ANKRD28 23243 broad.mit.edu 37 3 15731669 15731669 + Missense_Mutation SNP T T C TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr3:15731669T>C uc003caj.1 - 18 1873 c.1730A>G c.(1729-1731)GAT>GGT p.D577G ANKRD28_uc003cai.1_Missense_Mutation_p.D423G|ANKRD28_uc011avz.1_Missense_Mutation_p.D423G|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_RNA|ANKRD28_uc003cal.1_Missense_Mutation_p.D607G|ANKRD28_uc003cam.2_Missense_Mutation_p.D610G NM_015199 NP_056014 O15084 ANR28_HUMAN ankyrin repeat domain 28 577 ANK 16. nucleoplasm protein binding breast(1) 1 ATTTCTGACATCAAGATCTAA 0.363 NA 2 5 0 0 0 0 IFRD2 7866 broad.mit.edu 37 3 50326350 50326350 + Missense_Mutation SNP C C A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr3:50326350C>A uc011bdp.1 - 9 1225 c.1096G>T c.(1096-1098)GAC>TAC p.D366Y IFRD2_uc003czb.2_Missense_Mutation_p.D468Y NM_006764 NP_006755 Q12894 IFRD2_HUMAN interferon-related developmental regulator 2 366 binding lung(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) GCCTCCATGTCCTCGTAAACA 0.587 NA 8 3 0.000157383 0.000168318 1 0 FLNB 2317 broad.mit.edu 37 3 58104676 58104676 + Silent SNP G G T TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr3:58104676G>T uc003djj.2 + 19 2988 c.2823G>T c.(2821-2823)CCG>CCT p.P941P FLNB_uc010hne.2_Silent_p.P941P|FLNB_uc003djk.2_Silent_p.P941P|FLNB_uc010hnf.2_Silent_p.P941P|FLNB_uc003djl.2_Silent_p.P772P|FLNB_uc003djm.2_Silent_p.P772P NM_001457 NP_001448 O75369 FLNB_HUMAN filamin B isoform 2 941 Filamin 8. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1) 19 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) TTGCTGCACCGCTGGATCTGA 0.517 NA 6 47 0.00116845 0.00123431 1 0 FLNB 2317 broad.mit.edu 37 3 58111419 58111419 + Missense_Mutation SNP G G T TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr3:58111419G>T uc003djj.2 + 23 4175 c.4010G>T c.(4009-4011)GGA>GTA p.G1337V FLNB_uc010hne.2_Missense_Mutation_p.G1337V|FLNB_uc003djk.2_Missense_Mutation_p.G1337V|FLNB_uc010hnf.2_Missense_Mutation_p.G1337V|FLNB_uc003djl.2_Missense_Mutation_p.G1168V|FLNB_uc003djm.2_Missense_Mutation_p.G1168V NM_001457 NP_001448 O75369 FLNB_HUMAN filamin B isoform 2 1337 Filamin 12.|Interaction with FBLP1. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1) 19 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) CAAGGACCTGGATTGAAAGAG 0.522 NA 36 34 9.04e-19 1.07e-18 1 0 KPNA1 3836 broad.mit.edu 37 3 122145937 122145937 + Silent SNP G G A rs143005503 TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr3:122145937G>A uc003efd.1 - 14 1548 c.1512C>T c.(1510-1512)TTC>TTT p.F504F KPNA1_uc003efb.1_Silent_p.F303F|KPNA1_uc003efc.1_Silent_p.F303F|KPNA1_uc011bjr.1_Silent_p.F303F|KPNA1_uc010hrh.2_Silent_p.F303F|KPNA1_uc003efe.2_Silent_p.F504F NM_002264 NP_002255 P52294 IMA1_HUMAN karyopherin alpha 1 504 ARM 10; atypical. DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein binding|protein transporter activity 0 GBM - Glioblastoma multiforme(114;0.0898) CTTCGGTCCCGAAGTAATGCT 0.438 NA 3 57 0 0 0 0 MSL2 55167 broad.mit.edu 37 3 135870380 135870380 + Missense_Mutation SNP G G C TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr3:135870380G>C uc003eqx.1 - 2 2076 c.1343C>G c.(1342-1344)CCT>CGT p.P448R MSL2_uc011bmb.1_Missense_Mutation_p.P374R NM_018133 NP_060603 Q9HCI7 MSL2_HUMAN ring finger protein 184 isoform 1 448 Lys-rich. histone H4-K16 acetylation MSL complex zinc ion binding central_nervous_system(1) 1 AGTCTTGGTAGGACTTCCTGG 0.423 NA 37 96 0 0 0 0 PLSCR1 5359 broad.mit.edu 37 3 146251283 146251283 + Missense_Mutation SNP G G C TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr3:146251283G>C uc003evx.3 - 3 456 c.68C>G c.(67-69)CCT>CGT p.P23R PLSCR1_uc003evy.3_Missense_Mutation_p.P16R|PLSCR1_uc011bnn.1_Missense_Mutation_p.L15V|PLSCR1_uc003evz.3_RNA|PLSCR1_uc003ewa.2_Missense_Mutation_p.P23R NM_021105 NP_066928 O15162 PLS1_HUMAN phospholipid scramblase 1 23 Cytoplasmic.|SH3-binding 1 (Potential).|WW-binding 1 (Potential). phospholipid scrambling|platelet activation|response to virus integral to membrane|plasma membrane calcium ion binding|phospholipid scramblase activity|SH3 domain binding ovary(2) 2 TGGATACTGAGGAGGATACCC 0.313 NA 46 68 0 0 0 0 AGTR1 185 broad.mit.edu 37 3 148458873 148458873 + Silent SNP T T C TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr3:148458873T>C uc003ewg.2 + 4 497 c.51T>C c.(49-51)GAT>GAC p.D17D AGTR1_uc003ewh.2_Silent_p.D17D|AGTR1_uc003ewi.2_Silent_p.D17D|AGTR1_uc003ewj.2_Silent_p.D17D|AGTR1_uc003ewk.2_Silent_p.D17D NM_031850 NP_114038 P30556 AGTR1_HUMAN angiotensin II receptor, type 1 17 Extracellular (Potential). calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity 0 LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152) Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177) TCCAAGATGATTGTCCCAAAG 0.363 NA 28 32 0 0 0 0 IGSF10 285313 broad.mit.edu 37 3 151166715 151166715 + Missense_Mutation SNP T T C TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr3:151166715T>C uc011bod.1 - 4 1054 c.1054A>G c.(1054-1056)ATC>GTC p.I352V NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 352 cell differentiation|multicellular organismal development|ossification extracellular region skin(7)|ovary(5)|central_nervous_system(1) 13 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TTTAGCACGATGTAGTCATTT 0.398 NA 26 52 0 0 0 0 NLGN1 22871 broad.mit.edu 37 3 173998698 173998698 + Missense_Mutation SNP G G T TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr3:173998698G>T uc003fio.1 + 7 2500 c.2077G>T c.(2077-2079)GCC>TCC p.A693S NLGN1_uc003fip.1_Missense_Mutation_p.A693S NM_014932 NP_055747 Q8N2Q7 NLGN1_HUMAN neuroligin 1 710 Helical; (Potential). calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1) 7 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) GAACATCTTGGCCTTTGCAGC 0.463 NA 50 68 2.28e-18 2.69e-18 1 0 MUC4 4585 broad.mit.edu 37 3 195515017 195515017 + Missense_Mutation SNP A A G TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr3:195515017A>G uc011bto.1 - 2 3894 c.3434T>C c.(3433-3435)GTA>GCA p.V1145A MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) ACCTGTGGATACTGAGGAAGT 0.562 NA 2 1 0 0 0 0 HTT 3064 broad.mit.edu 37 4 3101073 3101073 + Silent SNP G G A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr4:3101073G>A uc011bvq.1 + 4 571 c.426G>A c.(424-426)GAG>GAA p.E142E NM_002111 NP_002102 P42858 HD_HUMAN huntingtin 140 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) ATGACGCAGAGTCAGATGTCA 0.388 NA 4 59 0 0 0 0 TLR6 10333 broad.mit.edu 37 4 38830188 38830188 + Missense_Mutation SNP T T C TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr4:38830188T>C uc003gtm.2 - 1 973 c.907A>G c.(907-909)ACA>GCA p.T303A TLR6_uc010ifg.1_Missense_Mutation_p.T303A NM_006068 NP_006059 Q9Y2C9 TLR6_HUMAN toll-like receptor 6 precursor 303 Extracellular (Potential). activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway integral to plasma membrane|phagocytic vesicle membrane lipopeptide binding|transmembrane receptor activity ovary(2) 2 GCTTTCAATGTCGTTTTAGAA 0.318 NA 10 11 0 0 0 0 KIT 3815 broad.mit.edu 37 4 55594178 55594178 + Silent SNP G G T TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr4:55594178G>T uc010igr.2 + 13 1968 c.1881G>T c.(1879-1881)CCG>CCT p.P627P KIT_uc010igs.2_Silent_p.P623P|KIT_uc010igt.1_Silent_p.P76P NM_000222 NP_000213 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral 627 Protein kinase.|Cytoplasmic (Potential). male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity p.P627L(1) soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1) 5118 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) CAATTTTAGCGAGTGCCCATT 0.433 1 Mis|O GIST|AML|TGCT|mastocytosis|mucosal melanoma GIST|epithelioma Piebald trait Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors 36 48 3.21e-22 3.82e-22 1 0 EPHA5 2044 broad.mit.edu 37 4 66467472 66467472 + Missense_Mutation SNP G G C TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr4:66467472G>C uc003hcy.2 - 3 990 c.797C>G c.(796-798)TCT>TGT p.S266C EPHA5_uc003hcx.2_Missense_Mutation_p.S197C|EPHA5_uc003hcz.2_Missense_Mutation_p.S266C|EPHA5_uc011cah.1_Missense_Mutation_p.S266C|EPHA5_uc011cai.1_Missense_Mutation_p.S266C|EPHA5_uc003hda.2_Missense_Mutation_p.S266C NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 266 Extracellular (Potential).|Cys-rich. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 ATCGGTCACAGAATGGTTGAC 0.527 NA TSP Lung(17;0.13) 23 32 0 0 0 0 TMPRSS11F 389208 broad.mit.edu 37 4 68934384 68934384 + Missense_Mutation SNP C C G TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr4:68934384C>G uc003hdt.1 - 7 756 c.707G>C c.(706-708)AGC>ACC p.S236T LOC550112_uc003hdl.3_Intron|uc011cak.1_Intron NM_207407 NP_997290 Q6ZWK6 TM11F_HUMAN transmembrane protease, serine 11F 236 Peptidase S1.|Extracellular (Potential). proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity ovary(1) 1 ACTGATGAGGCTGGCTCCACA 0.522 NA 5 71 0 0 0 0 SLC4A4 8671 broad.mit.edu 37 4 72425949 72425949 + Missense_Mutation SNP G G T TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr4:72425949G>T uc003hfy.2 + 23 3194 c.3077G>T c.(3076-3078)AGT>ATT p.S1026I SLC4A4_uc010iic.2_Missense_Mutation_p.S1026I|SLC4A4_uc010iib.2_Missense_Mutation_p.S942I|SLC4A4_uc003hfz.2_Missense_Mutation_p.S1026I|SLC4A4_uc003hgc.3_Missense_Mutation_p.S982I|SLC4A4_uc010iid.2_Missense_Mutation_p.S230I NM_001098484 NP_001091954 Q9Y6R1 S4A4_HUMAN solute carrier family 4, sodium bicarbonate 1026 Cytoplasmic (Potential). S->D: Loss of regulation by cAMP of the transporter stoichiometry. Shifts transporter stoichiometry from 3:1 to 2:1.|S->A: Prevents phosphorylation by PKA. Loss of regulation by cAMP of the transporter stoichiometry. basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|kidney(1)|skin(1) 5 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) aagaagGGAAGTCTGGACAGT 0.323 NA 16 25 4.75e-09 5.42e-09 1 0 UNC5C 8633 broad.mit.edu 37 4 96141148 96141148 + Missense_Mutation SNP C C T TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr4:96141148C>T uc003htp.1 - 8 1442 c.1288G>A c.(1288-1290)GCA>ACA p.A430T UNC5C_uc010ilc.1_Missense_Mutation_p.A449T|UNC5C_uc003htq.2_Missense_Mutation_p.A449T NM_003728 NP_003719 O95185 UNC5C_HUMAN unc5C precursor 430 Cytoplasmic (Potential). apoptosis|axon guidance|brain development integral to membrane netrin receptor activity ovary(3)|pancreas(1) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) TGTCTTGCTGCCTTGATGTTC 0.383 NA 33 79 0 0 0 0 C4orf3 401152 broad.mit.edu 37 4 120221571 120221571 + Silent SNP G G A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr4:120221571G>A uc003icv.3 - 1 398 c.120C>T c.(118-120)CCC>CCT p.P40P NM_001001701 NP_001001701 Q8WVX3 CD003_HUMAN hypothetical protein LOC401152 40 integral to membrane 0 AGGAGTGTTTGGGAAGCCCAT 0.517 NA 47 71 0 0 0 0 SLC6A19 340024 broad.mit.edu 37 5 1219624 1219624 + Silent SNP C C T TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr5:1219624C>T uc003jbw.3 + 10 1439 c.1383C>T c.(1381-1383)CTC>CTT p.L461L NM_001003841 NP_001003841 Q695T7 S6A19_HUMAN solute carrier family 6, member 19 461 Helical; Name=9; (Potential). cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity 0 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CTGCAGGCCTCATCTGCCTGG 0.637 NA 14 19 0 0 0 0 SFRS12 140890 broad.mit.edu 37 5 65458371 65458371 + Missense_Mutation SNP C C T TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr5:65458371C>T uc003juo.2 + 6 1018 c.358C>T c.(358-360)CCA>TCA p.P120S SFRS12_uc003jun.2_Missense_Mutation_p.P236S|SFRS12_uc010iwy.2_Missense_Mutation_p.P120S NM_139168 NP_631907 Q8WXA9 SREK1_HUMAN splicing factor, arginine/serine-rich 12 isoform 120 RRM. mRNA processing|RNA splicing spliceosomal complex nucleic acid binding|nucleotide binding|protein binding 0 Lung NSC(167;9.34e-06)|Prostate(74;0.00187)|Ovarian(174;0.0545)|Breast(144;0.0928)|Colorectal(97;0.234) Lung(70;0.00449) AAATTCTGTACCAAGGGCCCT 0.378 NA 9 62 0 0 0 0 EFNA5 1946 broad.mit.edu 37 5 106723440 106723440 + Missense_Mutation SNP A A G TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr5:106723440A>G uc003kol.2 - 3 733 c.451T>C c.(451-453)TGT>CGT p.C151R NM_001962 NP_001953 P52803 EFNA5_HUMAN ephrin-A5 precursor 151 cell-cell signaling anchored to plasma membrane|caveola|extracellular space ephrin receptor binding 0 all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241) Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109) AGCTTTAGACAGGACCTTCTT 0.438 NA 10 144 0 0 0 0 DPYSL3 1809 broad.mit.edu 37 5 146778660 146778660 + Silent SNP G G T TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr5:146778660G>T uc003lon.1 - 11 1376 c.1266C>A c.(1264-1266)GCC>GCA p.A422A DPYSL3_uc003loo.2_Silent_p.A536A NM_001387 NP_001378 Q14195 DPYL3_HUMAN dihydropyrimidinase-like 3 422 axon guidance|pyrimidine base catabolic process|signal transduction cytosol|growth cone dihydropyrimidinase activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGGTTCTTGGCAGAGACGA 0.512 NA 7 90 9.7e-10 1.11e-09 1 0 GFPT2 9945 broad.mit.edu 37 5 179751887 179751887 + Missense_Mutation SNP C C A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr5:179751887C>A uc003mlw.1 - 8 703 c.605G>T c.(604-606)AGC>ATC p.S202I NM_005110 NP_005101 O94808 GFPT2_HUMAN glutamine-fructose-6-phosphate transaminase 2 202 Glutamine amidotransferase type-2. dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding ovary(1)|skin(1) 2 all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) Medulloblastoma(196;0.0392)|all_neural(177;0.0529) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) L-Glutamine(DB00130) GAGCAGGGGGCTGCCTCTCCT 0.527 NA 36 64 9.81e-26 1.17e-25 1 0 HIST1H2AL 8332 broad.mit.edu 37 6 27833150 27833150 + Missense_Mutation SNP G G C TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr6:27833150G>C uc003njw.2 + 1 44 c.18G>C c.(16-18)AAG>AAC p.K6N NM_003511 NP_003502 P0C0S8 H2A1_HUMAN histone cluster 1, H2al 6 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding 0 GACGCGGCAAGCAGGGAGGCA 0.582 NA 10 122 0 0 0 0 SYNGAP1 8831 broad.mit.edu 37 6 33400552 33400552 + Silent SNP C C T TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr6:33400552C>T uc011dri.1 + 5 673 c.478C>T c.(478-480)CTG>TTG p.L160L SYNGAP1_uc003oeo.1_Silent_p.L145L|SYNGAP1_uc010juy.2_Silent_p.L145L NM_006772 NP_006763 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 160 PH. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding ovary(4) 4 TCGCCAGATCCTGCCTCGCTT 0.557 NA 20 29 0 0 0 0 PI16 221476 broad.mit.edu 37 6 36930912 36930912 + Missense_Mutation SNP C C T TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr6:36930912C>T uc003ona.2 + 5 1122 c.794C>T c.(793-795)CCA>CTA p.P265L PI16_uc003omz.1_Intron|PI16_uc003onb.2_Intron|PI16_uc011dts.1_Missense_Mutation_p.P36L NM_153370 NP_699201 Q6UXB8 PI16_HUMAN protease inhibitor 16 precursor 265 Extracellular (Potential). extracellular region|integral to membrane peptidase inhibitor activity 0 ACCCAGGCCCCAACTTCCTTA 0.577 NA 8 89 0 0 0 0 ABCC10 89845 broad.mit.edu 37 6 43406408 43406408 + Silent SNP C C T TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr6:43406408C>T uc003ouy.1 + 8 2217 c.2002C>T c.(2002-2004)CTG>TTG p.L668L ABCC10_uc003ouz.1_Silent_p.L640L|ABCC10_uc010jyo.1_5'UTR NM_033450 NP_258261 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C, member 10 668 ABC transporter 1. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(6)|central_nervous_system(1) 7 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) GGGCTTTGGCCTGGCCACCCA 0.592 NA 32 47 0 0 0 0 KCNQ5 56479 broad.mit.edu 37 6 73904678 73904678 + Silent SNP C C T TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr6:73904678C>T uc003pgk.2 + 14 2687 c.2340C>T c.(2338-2340)GTC>GTT p.V780V KCNQ5_uc011dyh.1_Silent_p.V799V|KCNQ5_uc011dyi.1_Silent_p.V790V|KCNQ5_uc010kat.2_Silent_p.V771V|KCNQ5_uc011dyj.1_Silent_p.V670V|KCNQ5_uc011dyk.1_Silent_p.V530V NM_019842 NP_062816 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like 780 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(4)|large_intestine(2)|skin(1) 7 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) TTTCTGACGTCACCACCTGCC 0.507 NA 7 39 0 0 0 0 MYO6 4646 broad.mit.edu 37 6 76602328 76602328 + Missense_Mutation SNP C C T rs148245729 TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr6:76602328C>T uc003pih.1 + 28 3307 c.3028C>T c.(3028-3030)CGG>TGG p.R1010W MYO6_uc003pig.1_Missense_Mutation_p.R1010W|MYO6_uc003pii.1_Missense_Mutation_p.R1010W|MYO6_uc003pij.1_5'Flank NM_004999 NP_004990 Q9UM54 MYO6_HUMAN myosin VI 1010 Glu-rich.|Potential. actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding kidney(1)|pancreas(1) 2 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) GCGCAGGGACCGGGAGCTGGC 0.647 NA 23 19 0 0 0 0 SYNE1 23345 broad.mit.edu 37 6 152639352 152639352 + Nonsense_Mutation SNP A A T TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr6:152639352A>T uc010kiw.2 - 86 17038 c.16436T>A c.(16435-16437)TTA>TAA p.L5479* SYNE1_uc010kiv.2_Nonsense_Mutation_p.L3*|SYNE1_uc003qos.3_Nonsense_Mutation_p.L3*|SYNE1_uc003qot.3_Nonsense_Mutation_p.L5408*|SYNE1_uc003qou.3_Nonsense_Mutation_p.L5479*|SYNE1_uc010kiz.2_Nonsense_Mutation_p.L1234* NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5479 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) TGCTGCATCTAATTCCATTAA 0.403 NA HNSCC(10;0.0054) 27 19 0 0 0 0 GLCCI1 113263 broad.mit.edu 37 7 8125840 8125840 + Missense_Mutation SNP C C T TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr7:8125840C>T uc003srk.2 + 8 1875 c.1316C>T c.(1315-1317)TCG>TTG p.S439L NM_138426 NP_612435 Q86VQ1 GLCI1_HUMAN glucocorticoid induced transcript 1 439 0 Ovarian(82;0.0608) UCEC - Uterine corpus endometrioid carcinoma (126;0.206) CAGCCTATCTCGGCCCCTCTC 0.388 NA 13 221 0 0 0 0 DNAH11 8701 broad.mit.edu 37 7 21627788 21627788 + Missense_Mutation SNP G G A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr7:21627788G>A uc003svc.2 + 10 1848 c.1817G>A c.(1816-1818)TGT>TAT p.C606Y NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 606 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 CTGGATGTGTGTAAGCAACTG 0.368 NA Kartagener_syndrome 5 37 0 0 0 0 URGCP 55665 broad.mit.edu 37 7 43918683 43918683 + Missense_Mutation SNP C C A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr7:43918683C>A uc003tiw.2 - 6 436 c.379G>T c.(379-381)GCT>TCT p.A127S URGCP_uc003tiu.2_Missense_Mutation_p.A84S|URGCP_uc003tiv.2_Missense_Mutation_p.A52S|URGCP_uc003tix.2_Missense_Mutation_p.A118S|URGCP_uc003tiy.2_Missense_Mutation_p.A84S|URGCP_uc003tiz.2_Missense_Mutation_p.A84S|URGCP_uc011kbj.1_Missense_Mutation_p.A84S NM_001077663 NP_001071131 Q8TCY9 URGCP_HUMAN up-regulated gene 4 isoform 3 127 cell cycle centrosome|nucleus GTP binding ovary(2)|liver(1)|skin(1) 4 CTGGCATCAGCATTGAGGGCC 0.547 NA 40 70 4.05e-12 4.7e-12 1 0 GCK 2645 broad.mit.edu 37 7 44187278 44187278 + Silent SNP G G A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr7:44187278G>A uc003tkl.2 - 7 1304 c.834C>T c.(832-834)GAC>GAT p.D278D GCK_uc003tkh.1_5'Flank|GCK_uc003tki.1_5'Flank|GCK_uc003tkj.1_Silent_p.D277D|GCK_uc003tkk.1_Silent_p.D279D NM_000162 NP_000153 P35557 HXK4_HUMAN glucokinase isoform 1 278 cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding skin(3)|lung(1) 4 CAGAGCTCTCGTCCACCAGGC 0.687 NA 36 38 0 0 0 0 ZNF716 441234 broad.mit.edu 37 7 57522865 57522865 + Missense_Mutation SNP A A C TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr7:57522865A>C uc011kdi.1 + 3 365 c.253A>C c.(253-255)AAA>CAA p.K85Q NM_001159279 NP_001152751 zinc finger protein 716 ovary(2) 2 GATGGTAGCCAAACACCCAGG 0.443 NA 7 113 0 0 0 0 BAZ1B 9031 broad.mit.edu 37 7 72856543 72856543 + Nonsense_Mutation SNP G G A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr7:72856543G>A uc003tyc.2 - 19 4780 c.4435C>T c.(4435-4437)CGA>TGA p.R1479* NM_032408 NP_115784 Q9UIG0 BAZ1B_HUMAN bromodomain adjacent to zinc finger domain, 1B 1479 ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent WINAC complex ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 7 Lung NSC(55;0.0659)|all_lung(88;0.152) TTCTGTCTTCGTCCCCTGGAC 0.597 NA 8 187 0 0 0 0 CYP3A5 1577 broad.mit.edu 37 7 99264261 99264261 + Missense_Mutation SNP G G A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr7:99264261G>A uc003urq.2 - 6 571 c.484C>T c.(484-486)CGG>TGG p.R162W ZNF498_uc003urn.2_Intron|CYP3A5_uc003urp.2_Intron|CYP3A5_uc003urr.2_Missense_Mutation_p.R49W|CYP3A5_uc011kiy.1_Missense_Mutation_p.R152W|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron NM_000777 NP_000768 P20815 CP3A5_HUMAN cytochrome P450, family 3, subfamily A, 162 alkaloid catabolic process|drug catabolic process|oxidative demethylation|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding 0 all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166) Alfentanil(DB00802)|Clopidogrel(DB00758)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Indinavir(DB00224)|Irinotecan(DB00762)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Mephenytoin(DB00532)|Midazolam(DB00683)|Mifepristone(DB00834)|Phenytoin(DB00252)|Quinine(DB00468)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Troleandomycin(DB01361)|Verapamil(DB00661)|Vincristine(DB00541) TCTGCTTCCCGCCTCAAGTTT 0.493 NA 11 191 0 0 0 0 TES 26136 broad.mit.edu 37 7 115892374 115892374 + Silent SNP G G A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr7:115892374G>A uc003vho.2 + 6 1102 c.921G>A c.(919-921)CTG>CTA p.L307L TES_uc011kmy.1_Silent_p.L65L|TES_uc003vhp.2_Silent_p.L298L|uc003vhq.1_5'Flank NM_015641 NP_056456 Q9UGI8 TES_HUMAN testin isoform 1 307 LIM zinc-binding 2. negative regulation of cell proliferation cytoplasm|focal adhesion|nucleus|protein complex zinc ion binding 0 Lung NSC(10;0.0137)|all_lung(10;0.0148) Breast(660;0.0602) STAD - Stomach adenocarcinoma(10;0.00878) CTTCCTAGCTGATATTCAGCA 0.348 NA 8 58 0 0 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121616905 121616905 + Missense_Mutation SNP G G T TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr7:121616905G>T uc003vjy.2 + 6 1014 c.619G>T c.(619-621)GGG>TGG p.G207W PTPRZ1_uc003vjz.2_Missense_Mutation_p.G207W NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 207 Extracellular (Potential).|Alpha-carbonic anhydrase. central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 TAGTCGTTTTGGTAAGCTACT 0.353 NA 7 57 1.13e-05 1.24e-05 1 0 MLL3 58508 broad.mit.edu 37 7 151874275 151874275 + Missense_Mutation SNP C C G TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr7:151874275C>G uc003wla.2 - 38 8482 c.8263G>C c.(8263-8265)GAT>CAT p.D2755H MLL3_uc003wkz.2_Missense_Mutation_p.D1816H|MLL3_uc003wky.2_Missense_Mutation_p.D264H NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 2755 Asp-rich. 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) GCAATGATATCAAACTCTCCT 0.358 NA N medulloblastoma 9 64 0 0 0 0 C8orf58 541565 broad.mit.edu 37 8 22460089 22460089 + Missense_Mutation SNP A A G TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr8:22460089A>G uc003xce.2 + 6 1031 c.919A>G c.(919-921)AAC>GAC p.N307D C8orf58_uc011kzl.1_Missense_Mutation_p.N299D|C8orf58_uc003xcf.2_Intron|KIAA1967_uc003xch.2_5'Flank|KIAA1967_uc003xci.2_5'Flank NM_001013842 NP_001013864 Q8NAV2 CH058_HUMAN hypothetical protein LOC541565 307 skin(1) 1 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608) GGTCCTGCTCAACCGGATCTG 0.662 NA 12 27 0 0 0 0 EPHX2 2053 broad.mit.edu 37 8 27401308 27401308 + Missense_Mutation SNP G G A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr8:27401308G>A uc003xfu.2 + 17 1573 c.1492G>A c.(1492-1494)GTG>ATG p.V498M EPHX2_uc010luu.2_Missense_Mutation_p.V466M|EPHX2_uc010luv.2_Missense_Mutation_p.V432M|EPHX2_uc003xfv.2_Missense_Mutation_p.V445M|EPHX2_uc010luw.2_Missense_Mutation_p.V432M NM_001979 NP_001970 P34913 HYES_HUMAN epoxide hydrolase 2, cytoplasmic 498 Epoxide hydrolase. aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction epoxide hydrolase activity|metal ion binding|protein homodimerization activity ovary(1) 1 Ovarian(32;2.61e-05)|all_epithelial(46;0.207) UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157) Tamoxifen(DB00675) GAAGGACTTCGTGCTCGTTCC 0.612 NA 6 54 0 0 0 0 ELP3 55140 broad.mit.edu 37 8 27964292 27964292 + Silent SNP T T C TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr8:27964292T>C uc003xgo.3 + 4 469 c.321T>C c.(319-321)AAT>AAC p.N107N ELP3_uc003xgn.3_Silent_p.N92N|ELP3_uc011laq.1_Silent_p.N35N|ELP3_uc011lar.1_Silent_p.N15N|ELP3_uc011las.1_Missense_Mutation_p.Y10H|ELP3_uc011lat.1_Missense_Mutation_p.Y10H NM_018091 NP_060561 Q9H9T3 ELP3_HUMAN elongation protein 3 homolog 107 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding 0 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183) TTACAGGAAATATATGTGTGT 0.333 NA 24 48 0 0 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110476920 110476920 + Missense_Mutation SNP G G T TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr8:110476920G>T uc003yne.2 + 49 7963 c.7859G>T c.(7858-7860)GGT>GTT p.G2620V NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 2620 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CATTCTCAAGGTTGGTTTGGA 0.418 NA HNSCC(38;0.096) 112 133 2.56e-62 3.07e-62 1 0 MED30 90390 broad.mit.edu 37 8 118552171 118552171 + Missense_Mutation SNP G G A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr8:118552171G>A uc003yoj.2 + 4 642 c.491G>A c.(490-492)CGA>CAA p.R164Q MED30_uc011lib.1_Missense_Mutation_p.R129Q NM_080651 NP_542382 Q96HR3 MED30_HUMAN TRAP/Mediator complex component TRAP25 164 Potential. androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding 0 all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163) STAD - Stomach adenocarcinoma(47;0.0266) GATCAATTACGAAATCTCATC 0.318 NA 4 41 0 0 0 0 KCNQ3 3786 broad.mit.edu 37 8 133150233 133150233 + Missense_Mutation SNP T T A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr8:133150233T>A uc003ytj.2 - 12 1824 c.1599A>T c.(1597-1599)AAA>AAT p.K533N KCNQ3_uc010mdt.2_Missense_Mutation_p.K533N NM_004519 NP_004510 O43525 KCNQ3_HUMAN potassium voltage-gated channel KQT-like protein 533 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) TCTCCTTGAATTTTTTTTTAT 0.453 NA 55 107 0 0 0 0 COL22A1 169044 broad.mit.edu 37 8 139601575 139601575 + Missense_Mutation SNP G G A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr8:139601575G>A uc003yvd.2 - 65 5249 c.4802C>T c.(4801-4803)CCC>CTC p.P1601L COL22A1_uc011ljo.1_Missense_Mutation_p.P881L NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1601 Pro-rich.|Gly-rich.|Collagen-like 16. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TTGGCCTGGGGGACCGGGAGG 0.617 NA HNSCC(7;0.00092) 8 39 0 0 0 0 IFNA6 3443 broad.mit.edu 37 9 21350758 21350758 + Silent SNP T T C TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr9:21350758T>C uc011lni.1 - 1 129 c.129A>G c.(127-129)CAA>CAG p.Q43Q NM_021002 NP_066282 P05013 IFNA6_HUMAN interferon, alpha 6 precursor 43 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding 0 Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) TTCTCCTCATTTGTGCCAGGA 0.537 NA 67 30 0 0 0 0 POLR1E 64425 broad.mit.edu 37 9 37486777 37486777 + Missense_Mutation SNP C C T TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr9:37486777C>T uc003zzz.1 + 1 628 c.340C>T c.(340-342)CCC>TCC p.P114S POLR1E_uc011lqj.1_Missense_Mutation_p.P52S|POLR1E_uc003zzy.1_Missense_Mutation_p.P52S|POLR1E_uc011lqk.1_5'UTR NM_022490 NP_071935 Q9GZS1 RPA49_HUMAN RNA polymerase I associated factor 53 114 rRNA transcription cell junction|cytoplasm|nucleolus DNA binding|DNA-directed RNA polymerase activity|protein binding 0 GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229) TTCCACCAACCCCAGGAAGAG 0.537 NA 6 47 0 0 0 0 CORO2A 7464 broad.mit.edu 37 9 100899882 100899882 + Missense_Mutation SNP T T A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr9:100899882T>A uc004ayl.2 - 3 556 c.290A>T c.(289-291)GAG>GTG p.E97V CORO2A_uc004aym.2_Missense_Mutation_p.E97V NM_003389 NP_003380 Q92828 COR2A_HUMAN coronin, actin binding protein, 2A 97 WD 1. actin cytoskeleton organization|intracellular signal transduction actin cytoskeleton|transcriptional repressor complex actin filament binding skin(2)|ovary(1)|pancreas(1) 4 Acute lymphoblastic leukemia(62;0.0559) GGAGGCGATCTCAAAATCATC 0.542 NA 51 122 0 0 0 0 COL27A1 85301 broad.mit.edu 37 9 116918294 116918294 + Splice_Site SNP T T G TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr9:116918294T>G uc011lxl.1 + 1 62 c.62_splice c.e1+2 p.G21_splice NM_032888 NP_116277 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 precursor cell adhesion extracellular matrix structural constituent ovary(3)|skin(1) 4 gcgcggggggTGAGTACGAAC 0.517 NA 5 24 0 0 0 0 OR1N2 138882 broad.mit.edu 37 9 125315629 125315629 + Missense_Mutation SNP C C T TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr9:125315629C>T uc011lyx.1 + 1 181 c.181C>T c.(181-183)CTC>TTC p.L61F NM_001004457 NP_001004457 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, 61 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2) 4 GGGGAACCTGCTCATTATCCT 0.522 NA 11 167 0 0 0 0 PBX3 5090 broad.mit.edu 37 9 128723127 128723127 + Silent SNP C C T TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr9:128723127C>T uc004bqb.2 + 6 1124 c.1008C>T c.(1006-1008)TCC>TCT p.S336S PBX3_uc004bqc.2_Silent_p.S155S|PBX3_uc004bqd.2_Silent_p.S155S|PBX3_uc011lzw.1_Silent_p.S261S|PBX3_uc011lzx.1_Silent_p.S247S|PBX3_uc004bqe.2_Silent_p.S244S NM_006195 NP_006186 P40426 PBX3_HUMAN pre-B-cell leukemia homeobox 3 isoform 1 336 anterior compartment pattern formation|posterior compartment specification sequence-specific DNA binding transcription factor activity upper_aerodigestive_tract(1) 1 CACCAAATTCCGGTGCGTACT 0.587 NA 3 19 0 0 0 0 ZMYM3 9203 broad.mit.edu 37 X 70463731 70463732 + Missense_Mutation DNP CC CC TA TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chrX:70463731_70463732CC>TA uc004dzh.1 - 21 3466_3467 c.3379_3380GG>TA c.(3379-3381)GGT>TAT p.G1127Y BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.G1127Y|ZMYM3_uc004dzj.1_Missense_Mutation_p.G1115Y NM_201599 NP_963893 Q14202 ZMYM3_HUMAN zinc finger protein 261 1127 multicellular organismal development nucleus DNA binding|zinc ion binding ovary(1) 1 Renal(35;0.156) ATATCGTTCACCATTGGGCCGA 0.5 NA 6 53 0 0 0 0 THOC2 57187 broad.mit.edu 37 X 122765598 122765598 + Missense_Mutation SNP G G C TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chrX:122765598G>C uc004etu.2 - 22 2454 c.2422C>G c.(2422-2424)CAT>GAT p.H808D THOC2_uc011muh.1_Missense_Mutation_p.H733D NM_001081550 NP_001075019 Q8NI27 THOC2_HUMAN THO complex 2 808 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 TGGGGTGTATGAAATTCATTA 0.418 NA 5 144 0 0 0 0 TMEM187 8269 broad.mit.edu 37 X 153248203 153248203 + Silent SNP G G A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chrX:153248203G>A uc004fjq.2 + 2 1224 c.690G>A c.(688-690)AAG>AAA p.K230K hsa-mir-3202-2|MI0014253_5'Flank NM_003492 NP_003483 Q14656 TM187_HUMAN transmembrane protein 187 230 integral to membrane|transport vesicle 0 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCTGGTCCAAGGTCTGTGACG 0.562 NA 42 16 0 0 0 0 NAV2 89797 broad.mit.edu 37 11 20117234 20117237 + Frame_Shift_Del DEL TCTT TCTT - rs34775480 byFrequency TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr11:20117234_20117237delTCTT uc001mpr.3 + 30 6303_6306 c.5942_5945delTCTT c.(5941-5946)CTCTTTfs p.L1981fs NAV2_uc001mpp.2_Frame_Shift_Del_p.L1914fs|NAV2_uc009yhx.2_Frame_Shift_Del_p.L1042fs|NAV2_uc009yhz.2_Frame_Shift_Del_p.L623fs|NAV2_uc001mpu.2_Frame_Shift_Del_p.L416fs NM_182964 NP_892009 Q8IVL1 NAV2_HUMAN neuron navigator 2 isoform 1 2037_2038 nucleus ATP binding|helicase activity skin(4)|ovary(1)|pancreas(1) 6 AGACCACATCTCTTTCTTATTGGC 0.461 NA 72 151 --- --- --- --- NA NA NA NA ESYT1 23344 broad.mit.edu 37 12 56532256 56532257 + In_Frame_Ins INS - - TATATGGAG TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr12:56532256_56532257insTATATGGAG uc001sjq.2 + 22 2456_2457 c.2406_2407insTATATGGAG c.(2404-2409)insTATATGGAG p.805_806insYME ESYT1_uc001sjr.2_In_Frame_Ins_p.815_816insYME NM_015292 NP_056107 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 805_806 C2 4. integral to membrane p.E805E(1) ovary(4)|skin(1) 5 TGCTATCCATCTATATGGAGCG 0.609 NA 5 7 --- --- --- --- NA NA NA NA TMCO3 55002 broad.mit.edu 37 13 114152804 114152804 + Frame_Shift_Del DEL A A - rs143854308 TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr13:114152804delA uc001vtu.3 + 3 953 c.592delA c.(592-594)ATAfs p.I198fs TMCO3_uc001vtt.3_Frame_Shift_Del_p.I198fs NM_017905 NP_060375 Q6UWJ1 TMCO3_HUMAN transmembrane and coiled-coil domains 3 198 Potential. integral to membrane solute:hydrogen antiporter activity 0 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983) all cancers(43;0.0317) GGAGGAAGAGATAGAGGAACA 0.418 NA 31 66 --- --- --- --- NA NA NA NA ANGEL1 23357 broad.mit.edu 37 14 77257651 77257652 + Frame_Shift_Ins INS - - GGCT TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr14:77257651_77257652insGGCT uc001xsv.2 - 8 1789_1790 c.1676_1677insAGCC c.(1675-1677)CCTfs p.P559fs ANGEL1_uc010tvf.1_Intron NM_015305 NP_056120 Q9UNK9 ANGE1_HUMAN angel homolog 1 559 ovary(2)|central_nervous_system(1)|skin(1) 4 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0285) TGGAGAAGGCAGGCTCAAGCTC 0.505 NA 28 65 --- --- --- --- NA NA NA NA XIRP1 165904 broad.mit.edu 37 3 39227515 39227530 + Frame_Shift_Del DEL CCATCCTGAATTGTCA CCATCCTGAATTGTCA - TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr3:39227515_39227530delCCATCCTGAATTGTCA uc003cjk.1 - 2 3628_3643 c.3407_3422delTGACAATTCAGGATGG c.(3406-3423)GTGACAATTCAGGATGGCfs p.V1136fs XIRP1_uc003cji.2_Intron|XIRP1_uc003cjj.2_Intron NM_194293 NP_919269 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1136_1141 actin binding ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1) 8 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) GGTGTAGATGCCATCCTGAATTGTCACCCACCCCCC 0.606 NA 15 30 --- --- --- --- NA NA NA NA TFAP2A 7020 broad.mit.edu 37 6 10410525 10410526 + Frame_Shift_Ins INS - - G TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr6:10410525_10410526insG uc003myr.2 - 2 340_341 c.88_89insC c.(88-90)CAGfs p.Q30fs TFAP2A_uc003myq.2_Frame_Shift_Ins_p.Q24fs|TFAP2A_uc003mys.2_RNA|TFAP2A_uc011dih.1_Frame_Shift_Ins_p.Q30fs|TFAP2A_uc003myt.2_Frame_Shift_Ins_p.Q26fs|TFAP2A_uc003myu.1_Frame_Shift_Ins_p.Q30fs|TFAP2A_uc003myv.1_Frame_Shift_Ins_p.Q16fs|TFAP2A_uc011dii.1_Frame_Shift_Ins_p.Q26fs|uc003myw.2_5'Flank NM_003220 NP_003211 P05549 AP2A_HUMAN transcription factor AP-2 alpha isoform a 30 Gln/Pro-rich (transactivation domain). 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) AGTGCCCAGCTGGGGCAACCGT 0.614 NA 10 22 --- --- --- --- NA NA NA NA C8orf41 80185 broad.mit.edu 37 8 33364791 33364792 + Frame_Shift_Ins INS - - A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a32853ad-b6a3-4147-ae5a-f48fad71581e a69cfaac-983d-43bd-87c4-1ae89072749e g.chr8:33364791_33364792insA uc003xjl.3 - 3 1407_1408 c.882_883insT c.(880-885)CATGCCfs p.H294fs C8orf41_uc003xjk.3_Intron|C8orf41_uc010lvv.2_Frame_Shift_Ins_p.H294fs|C8orf41_uc003xjm.3_Frame_Shift_Ins_p.H294fs|C8orf41_uc003xjn.1_Frame_Shift_Ins_p.H294fs NM_025115 NP_079391 Q6NXR4 CH041_HUMAN hypothetical protein LOC80185 294_295 binding 0 KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111) TTGGAAATGGCATGGTATAGGA 0.406 NA 17 30 --- --- --- --- NA NA NA NA