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 PRAMEF10 343071 broad.mit.edu 37 1 12955542 12955542 + Missense_Mutation SNP A A C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:12955542A>C uc001auo.2 - 2 210 c.137T>G c.(136-138)ATG>AGG p.M46R NM_001039361 NP_001034450 O60809 PRA10_HUMAN PRAME family member 10 46 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) AAAACGTCTCATGCTGAAGGC 0.572 NA 33 21 0 0 0 0 DDI2 84301 broad.mit.edu 37 1 15956910 15956910 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:15956910C>T uc001awx.1 + 3 455 c.359C>T c.(358-360)TCA>TTA p.S120L DDI2_uc001aww.2_Missense_Mutation_p.S120L|DDI2_uc009voj.1_5'UTR NM_032341 NP_115717 Q5TDH0 DDI2_HUMAN DNA-damage inducible protein 2 120 proteolysis aspartic-type endopeptidase activity 0 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656) CAGTCCCACTCATCTCCTGGA 0.542 NA 33 15 0 0 0 0 CLCNKA 1187 broad.mit.edu 37 1 16358311 16358311 + Missense_Mutation SNP A A G rs139001368 TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:16358311A>G uc001axu.2 + 16 1809 c.1729A>G c.(1729-1731)ACC>GCC p.T577A CLCNKA_uc001axt.2_RNA|CLCNKA_uc001axv.2_Missense_Mutation_p.T577A|CLCNKA_uc010obw.1_Missense_Mutation_p.T534A|CLCNKB_uc001axw.3_Intron|CLCNKA_uc010oby.1_Intron NM_004070 NP_004061 P51800 CLCKA_HUMAN chloride channel Ka isoform 1 577 CBS 1. 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) CACAGACGTGACCGAGTATCC 0.582 NA 4 41 0 0 0 0 CLCNKB 1188 broad.mit.edu 37 1 16380200 16380200 + Silent SNP A A G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:16380200A>G uc001axw.3 + 16 1769 c.1689A>G c.(1687-1689)CCA>CCG p.P563P FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Silent_p.P563P|CLCNKB_uc001axy.3_Silent_p.P394P NM_000085 NP_000076 P51801 CLCKB_HUMAN chloride channel Kb isoform 1 563 CBS 1. excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity skin(1) 1 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) AGGACATGCCACTGGAGGAGG 0.632 NA 15 15 0 0 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:16918653C>T uc009vos.1 - 6 853 c.-35_splice c.e6+1 NBPF1_uc010oce.1_Intron NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN hypothetical protein LOC55672 cytoplasm 0 UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418 NA 6 66 0 0 0 0 PABPC4 8761 broad.mit.edu 37 1 40030930 40030930 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:40030930C>A uc010oiv.1 - 8 1991 c.1093G>T c.(1093-1095)GTT>TTT p.V365F PABPC4_uc001cdl.2_Missense_Mutation_p.V365F|PABPC4_uc001cdm.2_Missense_Mutation_p.V365F NM_003819 NP_003810 Q13310 PABP4_HUMAN poly A binding protein, cytoplasmic 4 isoform 2 365 RRM 4. blood coagulation|RNA catabolic process|RNA processing|translation cytoplasm|ribonucleoprotein complex nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding 0 Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) GCCAGGGCAACATATAGTGGC 0.507 NA 30 17 8.42e-14 1.15e-13 1 0 STIL 6491 broad.mit.edu 37 1 47717390 47717390 + Silent SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:47717390G>A uc001crc.1 - 17 3437 c.3282C>T c.(3280-3282)AGC>AGT p.S1094S TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Silent_p.S1048S|STIL_uc010omo.1_Silent_p.S1077S|STIL_uc001crd.1_Silent_p.S1095S|STIL_uc001cre.1_Silent_p.S1094S NM_003035 NP_003026 Q15468 STIL_HUMAN SCL/TAL1 interrupting locus isoform 2 1094 cell proliferation|multicellular organismal development centrosome|cytosol lung(2)|skin(1) 3 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) TATGGAGAAGGCTGAATGGGT 0.373 NA 69 42 0 0 0 0 C1orf83 127428 broad.mit.edu 37 1 54562036 54562036 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:54562036C>T uc001cwt.1 + 5 717 c.517C>T c.(517-519)CGG>TGG p.R173W C1orf83_uc001cwu.1_RNA NM_153035 NP_694580 Q96MN5 TEAN2_HUMAN hypothetical protein LOC127428 173 TFIIS central. transcription, DNA-dependent nucleus DNA binding 0 GCCGTACCGGCGGACGGTGAG 0.512 NA 38 20 0 0 0 0 LEPR 3953 broad.mit.edu 37 1 66081724 66081724 + Nonsense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:66081724C>T uc001dci.2 + 15 2231 c.2029C>T c.(2029-2031)CAG>TAG p.Q677* LEPR_uc001dcg.2_Nonsense_Mutation_p.Q677*|LEPR_uc001dch.2_Nonsense_Mutation_p.Q677*|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Nonsense_Mutation_p.Q677*|LEPR_uc001dck.2_Nonsense_Mutation_p.Q677* NM_002303 NP_002294 P48357 LEPR_HUMAN leptin receptor isoform 1 677 Extracellular (Potential).|Fibronectin type-III 3. energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) GTGCAGTGTTCAGAGATATGT 0.393 NA 15 15 0 0 0 0 C1orf173 127254 broad.mit.edu 37 1 75037100 75037100 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:75037100C>A uc001dgg.2 - 14 4513 c.4294G>T c.(4294-4296)GGC>TGC p.G1432C NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 1432 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 CCTGGAGTGCCCACCCCAGCC 0.612 NA 58 33 2.44e-19 3.51e-19 1 0 AGL 178 broad.mit.edu 37 1 100327061 100327061 + Missense_Mutation SNP T T C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:100327061T>C uc001dsi.1 + 3 485 c.85T>C c.(85-87)TAT>CAT p.Y29H AGL_uc001dsj.1_Missense_Mutation_p.Y29H|AGL_uc001dsk.1_Missense_Mutation_p.Y29H|AGL_uc001dsl.1_Missense_Mutation_p.Y29H|AGL_uc001dsm.1_Missense_Mutation_p.Y13H|AGL_uc001dsn.1_Missense_Mutation_p.Y12H NM_000642 NP_000633 P35573 GDE_HUMAN amylo-1,6-glucosidase, 29 4-alpha-glucanotransferase. glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) TTATTTAGGGTATGAGCTACA 0.308 NA 12 9 0 0 0 0 MAGI3 260425 broad.mit.edu 37 1 114216018 114216018 + Silent SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:114216018G>A uc001edk.2 + 19 3301 c.3120G>A c.(3118-3120)GAG>GAA p.E1040E MAGI3_uc001edh.3_Silent_p.E1065E|MAGI3_uc001edi.3_Silent_p.E1040E|MAGI3_uc010owm.1_Silent_p.E1065E|MAGI3_uc001edj.2_Silent_p.E761E NM_001142782 NP_001136254 Q5TCQ9 MAGI3_HUMAN membrane-associated guanylate kinase-related 3 1065 PDZ 6. apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding lung(3)|ovary(2)|central_nervous_system(1) 6 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GGGGGAAGGAGTACAACATGG 0.488 NA 64 39 0 0 0 0 MTMR11 10903 broad.mit.edu 37 1 149905389 149905389 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:149905389C>T uc001etl.3 - 10 1146 c.895G>A c.(895-897)GAT>AAT p.D299N MTMR11_uc001etm.1_Missense_Mutation_p.D227N|MTMR11_uc010pbm.1_Missense_Mutation_p.D271N|MTMR11_uc010pbn.1_Missense_Mutation_p.D141N NM_001145862 NP_001139334 A4FU01 MTMRB_HUMAN myotubularin related protein 11 isoform a 299 Myotubularin phosphatase. phosphatase activity central_nervous_system(1) 1 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) AGGACAACATCTGAATGCCCA 0.547 NA 31 105 0 0 0 0 RFX5 5993 broad.mit.edu 37 1 151315026 151315026 + Nonsense_Mutation SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:151315026G>C uc001exv.1 - 11 1701 c.1487C>G c.(1486-1488)TCA>TGA p.S496* RFX5_uc001exw.1_Nonsense_Mutation_p.S496*|RFX5_uc009wmr.1_Nonsense_Mutation_p.S496*|RFX5_uc010pcx.1_Nonsense_Mutation_p.S456* NM_001025603 NP_001020774 P48382 RFX5_HUMAN regulatory factor X, 5 496 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TGGTAACCTTGAGGACTGGGC 0.577 NA 83 194 0 0 0 0 NUP210L 91181 broad.mit.edu 37 1 154034118 154034118 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:154034118C>T uc001fdw.2 - 18 2659 c.2587G>A c.(2587-2589)GGG>AGG p.G863R NUP210L_uc009woq.2_Intron|NUP210L_uc010peh.1_Missense_Mutation_p.G863R NM_207308 NP_997191 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like isoform 1 863 integral to membrane skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) AGTACAGTCCCTTTTATCTGA 0.338 NA 27 53 0 0 0 0 OR6K2 81448 broad.mit.edu 37 1 158669597 158669597 + Missense_Mutation SNP C C G rs141159720 byFrequency TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:158669597C>G uc001fsu.1 - 1 846 c.846G>C c.(844-846)TTG>TTC p.L282F NM_001005279 NP_001005279 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, 282 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) AGAAGGGAGACAAAACTGCAA 0.403 NA 10 29 0 0 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161022564 161022564 + Nonsense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:161022564G>A uc001fxl.2 - 7 1034 c.688C>T c.(688-690)CGA>TGA p.R230* ARHGAP30_uc001fxk.2_Nonsense_Mutation_p.R230*|ARHGAP30_uc001fxm.2_Nonsense_Mutation_p.R76*|ARHGAP30_uc009wtx.2_5'UTR|ARHGAP30_uc001fxn.1_Nonsense_Mutation_p.R76* NM_001025598 NP_001020769 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 isoform 1 230 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(2)|upper_aerodigestive_tract(1) 3 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) GGAAGCGATCGCCACCCACTC 0.607 NA 27 39 0 0 0 0 DUSP12 11266 broad.mit.edu 37 1 161719654 161719654 + Silent SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:161719654C>T uc001gbo.2 + 1 74 c.63C>T c.(61-63)GTC>GTT p.V21V DUSP12_uc001gbp.2_5'UTR NM_007240 NP_009171 Q9UNI6 DUS12_HUMAN dual specificity phosphatase 12 21 positive regulation of glucokinase activity cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding breast(1) 1 all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00634) CCAGCAGAGTCAGCTGTGCCG 0.672 NA 4 16 0 0 0 0 C1orf114 57821 broad.mit.edu 37 1 169390813 169390813 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:169390813C>T uc001gga.1 - 3 1024 c.856G>A c.(856-858)GAG>AAG p.E286K C1orf114_uc001gfz.1_Missense_Mutation_p.E286K|C1orf114_uc009wvq.1_Missense_Mutation_p.E286K|C1orf114_uc001ggb.2_Missense_Mutation_p.E286K|C1orf114_uc001ggc.1_Missense_Mutation_p.E286K NM_021179 NP_067002 Q5TID7 CA114_HUMAN hypothetical protein LOC57821 286 0 all_hematologic(923;0.208) GCCAGCGGCTCTCCTGTTGAT 0.473 NA 53 142 0 0 0 0 PRRX1 5396 broad.mit.edu 37 1 170688866 170688866 + Splice_Site SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:170688866G>C uc001ghf.2 + 2 289 c.242_splice c.e2-1 p.N81_splice PRRX1_uc001ghe.2_Splice_Site_p.N81_splice NM_022716 NP_073207 P54821 PRRX1_HUMAN paired mesoderm homeobox 1 isoform pmx-1b nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TTCTATTCCAGATGACCAGCT 0.408 NA 14 19 0 0 0 0 BAT2L2 23215 broad.mit.edu 37 1 171509618 171509618 + Nonsense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:171509618G>T uc010pmg.1 + 16 3273 c.3007G>T c.(3007-3009)GAA>TAA p.E1003* BAT2L2_uc010pmh.1_5'UTR NM_015172 NP_055987 Q9Y520 PRC2C_HUMAN HBxAg transactivated protein 2 1003 protein C-terminus binding 0 TAACAGAAGGGAAGAAGTTAA 0.413 NA 17 16 1.03e-11 1.37e-11 1 0 CACNA1E 777 broad.mit.edu 37 1 181680164 181680164 + Missense_Mutation SNP A A G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:181680164A>G uc001gow.2 + 8 1295 c.1130A>G c.(1129-1131)GAG>GGG p.E377G CACNA1E_uc009wxs.2_Missense_Mutation_p.E284G NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 377 Cytoplasmic (Potential).|Binding to the beta subunit (By similarity). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 CAGCAGATTGAGCGTGAGCTG 0.577 NA 39 98 0 0 0 0 IVNS1ABP 10625 broad.mit.edu 37 1 185276680 185276680 + Missense_Mutation SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:185276680G>C uc001grl.2 - 6 1095 c.472C>G c.(472-474)CAG>GAG p.Q158E IVNS1ABP_uc001grj.2_5'Flank|IVNS1ABP_uc009wyj.2_5'UTR|IVNS1ABP_uc009wyk.2_RNA NM_006469 NP_006460 Q9Y6Y0 NS1BP_HUMAN influenza virus NS1A binding protein 158 BACK. interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex ovary(4)|central_nervous_system(1) 5 AAATGCTCCTGAATATAAGCA 0.363 NA 25 70 0 0 0 0 HMCN1 83872 broad.mit.edu 37 1 185946936 185946936 + Nonsense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:185946936C>T uc001grq.1 + 16 2618 c.2389C>T c.(2389-2391)CAA>TAA p.Q797* HMCN1_uc001grr.1_Nonsense_Mutation_p.Q138* NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 797 Ig-like C2-type 5. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 AGTTTTCATACAAGAACCTGC 0.343 NA 49 61 0 0 0 0 PRELP 5549 broad.mit.edu 37 1 203452824 203452824 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:203452824G>A uc001gzs.2 + 2 712 c.512G>A c.(511-513)CGG>CAG p.R171Q PRELP_uc001gzt.2_Missense_Mutation_p.R171Q NM_002725 NP_002716 P51888 PRELP_HUMAN proline arginine-rich end leucine-rich repeat 171 LRR 4. skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent ovary(1)|central_nervous_system(1)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.109) GCCCTGCCCCGGAACCTGGAG 0.597 NA 5 149 0 0 0 0 RYR2 6262 broad.mit.edu 37 1 237660034 237660034 + Missense_Mutation SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:237660034G>C uc001hyl.1 + 20 2305 c.2185G>C c.(2185-2187)GGC>CGC p.G729R NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 729 Cytoplasmic (By similarity).|B30.2/SPRY 1. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TGGATTTGATGGCCTTCATCT 0.493 NA 65 188 0 0 0 0 RYR2 6262 broad.mit.edu 37 1 237865319 237865319 + Missense_Mutation SNP T T A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:237865319T>A uc001hyl.1 + 66 9529 c.9409T>A c.(9409-9411)TTA>ATA p.L3137I RYR2_uc010pxz.1_Missense_Mutation_p.L92I NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3137 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TCTGACTAGCTTATATGCTTT 0.328 NA 32 16 0 0 0 0 FMN2 56776 broad.mit.edu 37 1 240370643 240370643 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:240370643C>T uc010pyd.1 + 5 2756 c.2531C>T c.(2530-2532)TCT>TTT p.S844F FMN2_uc010pye.1_Missense_Mutation_p.S848F NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 844 Pro-rich.|FH1. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CACGAACACTCTGTTTCCTCT 0.562 NA 73 68 0 0 0 0 RGS7 6000 broad.mit.edu 37 1 240964780 240964780 + Missense_Mutation SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:240964780G>C uc001hyv.2 - 17 1718 c.1388C>G c.(1387-1389)TCT>TGT p.S463C RGS7_uc010pyh.1_Intron|RGS7_uc010pyj.1_Intron|RGS7_uc001hyu.2_Intron|RGS7_uc009xgn.1_Intron|RGS7_uc001hyw.2_Intron|RGS7_uc001hyt.2_Missense_Mutation_p.S295C NM_002924 NP_002915 P49802 RGS7_HUMAN regulator of G-protein signaling 7 463 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity ovary(4)|skin(2)|kidney(1) 7 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) TTTTTCAAAAGATGTTCTGCG 0.239 NA 10 18 0 0 0 0 KIF26B 55083 broad.mit.edu 37 1 245849620 245849620 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:245849620G>T uc001ibf.1 + 12 3775 c.3335G>T c.(3334-3336)GGC>GTC p.G1112V KIF26B_uc001ibg.1_Missense_Mutation_p.G730V|KIF26B_uc001ibh.1_Missense_Mutation_p.G354V NM_018012 NP_060482 Q2KJY2 KI26B_HUMAN kinesin family member 26B 1112 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3) 3 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) AAGGATTCCGGCGTGGCGTCT 0.612 NA 56 125 3.32e-32 5e-32 1 0 OR2T1 26696 broad.mit.edu 37 1 248569514 248569514 + Silent SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:248569514C>A uc010pzm.1 + 1 219 c.219C>A c.(217-219)ACC>ACA p.T73T NM_030904 NP_112166 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, 73 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GAAAGGAAACCTCAGGTCTTA 0.423 NA 83 73 1.21e-29 1.81e-29 1 0 OR2T3 343173 broad.mit.edu 37 1 248637225 248637225 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:248637225C>T uc001iel.1 + 1 574 c.574C>T c.(574-576)CTC>TTC p.L192F NM_001005495 NP_001005495 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, 192 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCTGCTGAAGCTCTCCTGCTC 0.517 NA 192 155 0 0 0 0 OR2T3 343173 broad.mit.edu 37 1 248637239 248637239 + Missense_Mutation SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:248637239C>G uc001iel.1 + 1 588 c.588C>G c.(586-588)GAC>GAG p.D196E NM_001005495 NP_001005495 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, 196 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCTGCTCTGACGTCTCCCTCT 0.522 NA 107 273 0 0 0 0 FAM188A 80013 broad.mit.edu 37 10 15828592 15828592 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr10:15828592C>A uc001iod.1 - 13 1305 c.1084G>T c.(1084-1086)GGC>TGC p.G362C FAM188A_uc001ioe.1_Missense_Mutation_p.G189C NM_024948 NP_079224 Q9H8M7 F188A_HUMAN chromosome 10 open reading frame 97 362 apoptosis nucleus calcium ion binding ovary(1) 1 AGAAATGGGCCCAATAATATG 0.338 NA 38 77 6.97e-18 9.87e-18 1 0 KIAA1217 56243 broad.mit.edu 37 10 24727394 24727394 + Missense_Mutation SNP A A G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr10:24727394A>G uc001iru.3 + 5 1235 c.832A>G c.(832-834)AAT>GAT p.N278D KIAA1217_uc001irs.2_Missense_Mutation_p.N198D|KIAA1217_uc001irt.3_Missense_Mutation_p.N278D|KIAA1217_uc010qcy.1_Missense_Mutation_p.N278D|KIAA1217_uc010qcz.1_Missense_Mutation_p.N278D|KIAA1217_uc001irv.1_Missense_Mutation_p.N128D|KIAA1217_uc010qda.1_RNA NM_019590 NP_062536 Q5T5P2 SKT_HUMAN sickle tail isoform 1 278 embryonic skeletal system development cytoplasm ovary(5)|skin(2) 7 AAAAACTATGAATGGAGACAT 0.403 NA 43 56 0 0 0 0 PPYR1 5540 broad.mit.edu 37 10 47087602 47087602 + Silent SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr10:47087602C>A uc001jee.2 + 3 1238 c.819C>A c.(817-819)GCC>GCA p.A273A ANXA8_uc001jed.3_Intron|PPYR1_uc009xna.2_Silent_p.A273A NM_005972 NP_005963 P50391 NPY4R_HUMAN pancreatic polypeptide receptor 1 273 Helical; Name=6; (Potential). blood circulation|digestion|feeding behavior integral to plasma membrane ovary(1)|skin(1) 2 TGGTGGTGGCCTTTGCTGTGC 0.587 NA 20 87 3.99e-14 5.48e-14 1 0 OGDHL 55753 broad.mit.edu 37 10 50945898 50945898 + Missense_Mutation SNP T T A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr10:50945898T>A uc001jie.2 - 20 2666 c.2524A>T c.(2524-2526)ATC>TTC p.I842F OGDHL_uc009xog.2_Missense_Mutation_p.I869F|OGDHL_uc010qgt.1_Missense_Mutation_p.I785F|OGDHL_uc010qgu.1_Missense_Mutation_p.I633F NM_018245 NP_060715 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like isoform a 842 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding pancreas(1) 1 GGTGTGAAGATAATCAGCTGG 0.617 NA 33 50 0 0 0 0 PCDH15 65217 broad.mit.edu 37 10 56106133 56106133 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr10:56106133C>A uc001jju.1 - 6 981 c.586G>T c.(586-588)GAT>TAT p.D196Y PCDH15_uc010qhq.1_Missense_Mutation_p.D201Y|PCDH15_uc010qhr.1_Missense_Mutation_p.D196Y|PCDH15_uc010qhs.1_Missense_Mutation_p.D201Y|PCDH15_uc010qht.1_Missense_Mutation_p.D196Y|PCDH15_uc010qhu.1_Missense_Mutation_p.D196Y|PCDH15_uc001jjv.1_Missense_Mutation_p.D174Y|PCDH15_uc010qhv.1_Missense_Mutation_p.D196Y|PCDH15_uc010qhw.1_Missense_Mutation_p.D196Y|PCDH15_uc010qhx.1_Missense_Mutation_p.D196Y|PCDH15_uc010qhy.1_Missense_Mutation_p.D201Y|PCDH15_uc010qhz.1_Missense_Mutation_p.D196Y|PCDH15_uc010qia.1_Missense_Mutation_p.D174Y|PCDH15_uc010qib.1_Missense_Mutation_p.D174Y|PCDH15_uc001jjw.2_Missense_Mutation_p.D196Y NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 196 Extracellular (Potential).|Cadherin 2. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) ACCGGATCATCTGGATTATAC 0.308 NA HNSCC(58;0.16) 26 59 1.66e-10 2.18e-10 1 0 GLUD1 2746 broad.mit.edu 37 10 88836358 88836358 + Silent SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr10:88836358C>T uc001keh.2 - 2 598 c.501G>A c.(499-501)CTG>CTA p.L167L GLUD1_uc001keg.2_5'UTR|GLUD1_uc010qmp.1_Silent_p.L34L NM_005271 NP_005262 P00367 DHE3_HUMAN glutamate dehydrogenase 1 precursor 167 glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion mitochondrial matrix ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding 0 L-Glutamic Acid(DB00142)|NADH(DB00157) TGTATGTCATCAGAGAAGCCA 0.413 NA 25 36 0 0 0 0 PKD2L1 9033 broad.mit.edu 37 10 102050202 102050202 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr10:102050202C>A uc001kqx.1 - 13 2465 c.2082G>T c.(2080-2082)GAG>GAT p.E694D PKD2L1_uc009xwm.1_Missense_Mutation_p.E647D NM_016112 NP_057196 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 694 Cytoplasmic (Potential). signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding ovary(4) 4 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) CTCTGGCAGCCTCTGGACCCG 0.527 NA 8 23 0.000157383 0.000187434 1 0 WNT8B 7479 broad.mit.edu 37 10 102241771 102241771 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr10:102241771G>A uc001krb.2 + 5 584 c.470G>A c.(469-471)CGG>CAG p.R157Q NM_003393 NP_003384 Q93098 WNT8B_HUMAN wingless-type MMTV integration site family, 157 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity ovary(1)|breast(1)|large_intestine(1)|skin(1) 4 Colorectal(252;0.117) Epithelial(162;1.87e-10)|all cancers(201;1.64e-08) CAGGATGCACGGGCAGCCATG 0.592 NA OREG0020440 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 48 0 0 0 0 C10orf79 80217 broad.mit.edu 37 10 105893540 105893540 + Silent SNP A A G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr10:105893540A>G uc001kxw.2 - 35 4550 c.4434T>C c.(4432-4434)ACT>ACC p.T1478T C10orf79_uc009xxq.2_Silent_p.T757T NM_025145 NP_079421 Q8NDM7 WDR96_HUMAN hypothetical protein LOC80217 1478 0 Colorectal(252;0.178) Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194) TTTGTCCTTGAGTCTTTAAAA 0.318 NA 15 31 0 0 0 0 MUC5B 727897 broad.mit.edu 37 11 1263788 1263788 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr11:1263788C>A uc009ycr.1 + 47 7883 c.7757C>A c.(7756-7758)TCC>TAC p.S2586Y MUC5B_uc001ltb.2_Missense_Mutation_p.S1896Y NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 1893 7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GCCACCAGCTCCACGGCCACG 0.612 NA 45 81 1.87e-21 2.73e-21 1 0 OR52L1 338751 broad.mit.edu 37 11 6007529 6007529 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr11:6007529G>T uc001mcd.2 - 1 687 c.632C>A c.(631-633)ACA>AAA p.T211K NM_001005173 NP_001005173 Q8NGH7 O52L1_HUMAN olfactory receptor, family 52, subfamily L, 211 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|pancreas(1) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCGATTGACTGTGGTTTCTGA 0.493 NA 55 99 5.23e-25 7.72e-25 1 0 DCHS1 8642 broad.mit.edu 37 11 6643935 6643935 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr11:6643935C>T uc001mem.1 - 21 9382 c.8972G>A c.(8971-8973)CGG>CAG p.R2991Q NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 2991 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGGTGGCTCCCGGCCCAGTTT 0.642 NA 5 5 0 0 0 0 OR5P2 120065 broad.mit.edu 37 11 7818034 7818034 + Silent SNP A A G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr11:7818034A>G uc001mfp.1 - 1 456 c.456T>C c.(454-456)GCT>GCC p.A152A NM_153444 NP_703145 Q8WZ92 OR5P2_HUMAN olfactory receptor, family 5, subfamily P, 152 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2)|central_nervous_system(1) 5 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) TATAGGAGACAGCAATGAGAA 0.388 NA 31 44 0 0 0 0 ST5 6764 broad.mit.edu 37 11 8737301 8737301 + Missense_Mutation SNP C C T rs35353984 TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr11:8737301C>T uc001mgt.2 - 6 1880 c.1694G>A c.(1693-1695)CGG>CAG p.R565Q ST5_uc009yfr.2_Missense_Mutation_p.R145Q|ST5_uc001mgu.2_Missense_Mutation_p.R145Q|ST5_uc001mgv.2_Missense_Mutation_p.R565Q|ST5_uc010rbq.1_RNA|ST5_uc010rbp.1_Missense_Mutation_p.R78Q NM_213618 NP_998783 P78524 ST5_HUMAN suppression of tumorigenicity 5 isoform 1 565 positive regulation of ERK1 and ERK2 cascade protein binding upper_aerodigestive_tract(1) 1 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) TCGTGGCAGCCGGTGGCTCTT 0.617 NA 41 80 0 0 0 0 ANO5 203859 broad.mit.edu 37 11 22301128 22301128 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr11:22301128G>T uc001mqi.2 + 22 2876 c.2559G>T c.(2557-2559)ATG>ATT p.M853I ANO5_uc001mqj.2_Missense_Mutation_p.M852I NM_213599 NP_998764 Q75V66 ANO5_HUMAN anoctamin 5 isoform a 853 Helical; (Potential). chloride channel complex|endoplasmic reticulum membrane chloride channel activity central_nervous_system(3)|ovary(1) 4 TGGCCTGGATGATACCTGATG 0.358 NA 17 37 0.00074312 0.000872307 1 0 LRP4 4038 broad.mit.edu 37 11 46908046 46908046 + Missense_Mutation SNP T T C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr11:46908046T>C uc001ndn.3 - 17 2400 c.2254A>G c.(2254-2256)ATC>GTC p.I752V NM_002334 NP_002325 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 752 Extracellular (Potential). endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Lung(87;0.159) ATTCGACGGATGTCCATCCTT 0.517 NA 25 34 0 0 0 0 OR4X2 119764 broad.mit.edu 37 11 48267430 48267430 + Missense_Mutation SNP A A G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr11:48267430A>G uc001ngs.1 + 1 775 c.775A>G c.(775-777)ATA>GTA p.I259V NM_001004727 NP_001004727 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, 259 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CACTCTGCCCATAGACAAGAT 0.512 NA 26 32 0 0 0 0 OR4A47 403253 broad.mit.edu 37 11 48511249 48511249 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr11:48511249G>T uc010rhx.1 + 1 905 c.905G>T c.(904-906)AGA>ATA p.R302I NM_001005512 NP_001005512 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, 302 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 CTCTGGAGAAGAGACCTCATA 0.413 NA 28 50 1.77e-15 2.47e-15 1 0 OR4C46 119749 broad.mit.edu 37 11 51515722 51515722 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr11:51515722G>T uc010ric.1 + 1 441 c.441G>T c.(439-441)TGG>TGT p.W147C NM_001004703 NP_001004703 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, 147 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GAGTGGTGTGGATGGGAGGCT 0.463 NA 75 119 1.15e-32 1.74e-32 1 0 OR5T3 390154 broad.mit.edu 37 11 56019812 56019812 + Missense_Mutation SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr11:56019812G>C uc010rjd.1 + 1 137 c.137G>C c.(136-138)GGC>GCC p.G46A NM_001004747 NP_001004747 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, 46 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(21;0.00448) ATATTGACAGGCTTCACAGAT 0.373 NA 41 67 0 0 0 0 OR5M1 390168 broad.mit.edu 37 11 56380788 56380788 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr11:56380788C>T uc001nja.1 - 1 191 c.191G>A c.(190-192)GGC>GAC p.G64D NM_001004740 NP_001004740 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, 64 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 GGAGAGGTGGCCAAGGAAGAA 0.468 NA 44 80 0 0 0 0 ACY3 91703 broad.mit.edu 37 11 67410230 67410230 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr11:67410230G>T uc001omq.2 - 8 1096 c.925C>A c.(925-927)CCC>ACC p.P309T NM_080658 NP_542389 Q96HD9 ACY3_HUMAN aspartoacylase 3 309 interspecies interaction between organisms apical plasma membrane|cytoplasm hydrolase activity, acting on ester bonds|metal ion binding 0 L-Aspartic Acid(DB00128) GTCAGCGCGGGCATGGCAGGC 0.587 NA 45 98 4.79e-31 7.19e-31 1 0 LRP5 4041 broad.mit.edu 37 11 68154175 68154175 + Silent SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr11:68154175G>A uc001ont.2 + 6 1482 c.1407G>A c.(1405-1407)GTG>GTA p.V469V LRP5_uc009ysg.2_5'UTR NM_002335 NP_002326 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 469 LDL-receptor class B 7.|Beta-propeller 2.|Extracellular (Potential). adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1) 7 TGCACCCCGTGATGGGGTAAG 0.672 NA 13 27 0 0 0 0 P2RY2 5029 broad.mit.edu 37 11 72946311 72946311 + Missense_Mutation SNP C C G rs145119561 by1000genomes TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr11:72946311C>G uc001otj.2 + 3 1440 c.1107C>G c.(1105-1107)AGC>AGG p.S369R P2RY2_uc001otk.2_Missense_Mutation_p.S369R|P2RY2_uc001otl.2_Missense_Mutation_p.S369R NM_002564 NP_002555 P41231 P2RY2_HUMAN purinergic receptor P2Y2 369 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(2)|lung(1)|skin(1) 4 Suramin(DB04786) CGGCTGGTAGCGAGAACACTA 0.552 NA 47 35 0 0 0 0 RELT 84957 broad.mit.edu 37 11 73101965 73101965 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr11:73101965G>T uc001otv.2 + 4 451 c.286G>T c.(286-288)GGG>TGG p.G96W RELT_uc001otw.2_Missense_Mutation_p.G96W|RELT_uc009yto.1_Missense_Mutation_p.G14W|RELT_uc001otx.2_5'Flank NM_152222 NP_689408 Q969Z4 TR19L_HUMAN RELT tumor necrosis factor receptor precursor 96 Extracellular (Potential). cytoplasm|integral to membrane|plasma membrane binding|receptor activity upper_aerodigestive_tract(1) 1 CTGCTGGCCTGGGTAAGCCAA 0.602 NA 24 19 1.77e-15 2.47e-15 1 0 OR2AT4 341152 broad.mit.edu 37 11 74800246 74800246 + Missense_Mutation SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr11:74800246C>G uc010rro.1 - 1 513 c.513G>C c.(511-513)ATG>ATC p.M171I NM_001005285 NP_001005285 A6NND4 O2AT4_HUMAN olfactory receptor, family 2, subfamily AT, 171 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TGTTATATGCCATCTGGGAGG 0.572 NA 25 9 0 0 0 0 MYO7A 4647 broad.mit.edu 37 11 76916513 76916513 + Silent SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr11:76916513C>T uc001oyb.2 + 40 5759 c.5487C>T c.(5485-5487)AGC>AGT p.S1829S MYO7A_uc001oyc.2_Silent_p.S1791S|MYO7A_uc001oye.2_Intron NM_000260 NP_000251 Q13402 MYO7A_HUMAN myosin VIIA isoform 1 1829 MyTH4 2. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|breast(1) 4 GCAGGTACAGCGAGGAGCGGG 0.677 NA 5 0 0 0 0 0 MMP13 4322 broad.mit.edu 37 11 102818711 102818711 + Missense_Mutation SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr11:102818711C>G uc001phl.2 - 8 1148 c.1120G>C c.(1120-1122)GGT>CGT p.G374R NM_002427 NP_002418 P45452 MMP13_HUMAN matrix metalloproteinase 13 preproprotein 374 Hemopexin-like 2. collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) TTTGGAAGACCCAGTTCAGAT 0.403 NA 21 13 0 0 0 0 GRIA4 2893 broad.mit.edu 37 11 105789531 105789531 + Missense_Mutation SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr11:105789531G>C uc001pix.2 + 11 1809 c.1363G>C c.(1363-1365)GCA>CCA p.A455P GRIA4_uc001piw.2_Missense_Mutation_p.A455P NM_000829 NP_000820 P48058 GRIA4_HUMAN glutamate receptor, ionotrophic, AMPA 4 isoform 455 Extracellular (Potential). glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) ATCTGAAATTGCAAAACATAT 0.353 NA 13 5 0 0 0 0 PRB2 653247 broad.mit.edu 37 12 11546873 11546873 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr12:11546873G>T uc010shk.1 - 3 174 c.139C>A c.(139-141)CCT>ACT p.P47T NM_006248 NP_006239 proline-rich protein BstNI subfamily 2 0 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) GGACCTTGAGGTTTGTTGCCT 0.537 NA 144 181 2.6e-62 4e-62 1 0 FAM60A 58516 broad.mit.edu 37 12 31435799 31435799 + Silent SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr12:31435799C>T uc010sjz.1 - 6 752 c.513G>A c.(511-513)AAG>AAA p.K171K FAM60A_uc001rkd.2_Silent_p.K171K|FAM60A_uc010ska.1_Silent_p.K171K|FAM60A_uc001rke.2_Silent_p.K171K|FAM60A_uc010skb.1_RNA|FAM60A_uc001rkc.2_Silent_p.K196K NM_021238 NP_067061 Q9NP50 FA60A_HUMAN family with sequence similarity 60, member A 171 0 all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162) CACAACATATCTTCTGTCTAA 0.353 NA 17 29 0 0 0 0 ABCD2 225 broad.mit.edu 37 12 39947723 39947723 + Missense_Mutation SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr12:39947723C>G uc001rmb.2 - 10 2640 c.2214G>C c.(2212-2214)GAG>GAC p.E738D NM_005164 NP_005155 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D, member 2 738 fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1) 6 ATTAAGATGTCTCATCTTCAT 0.323 NA 4 7 0 0 0 0 PPFIA2 8499 broad.mit.edu 37 12 81738464 81738464 + Missense_Mutation SNP A A T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr12:81738464A>T uc001szo.1 - 19 2402 c.2241T>A c.(2239-2241)GAT>GAA p.D747E PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 673 ovary(3)|lung(2)|pancreas(1) 6 GTTTCCTCAGATCACTTGGCT 0.279 NA 3 0 0 0 0 0 DUSP6 1848 broad.mit.edu 37 12 89745444 89745444 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr12:89745444C>T uc001tay.2 - 1 853 c.373G>A c.(373-375)GAG>AAG p.E125K DUSP6_uc001taz.2_Missense_Mutation_p.E125K NM_001946 NP_001937 Q16828 DUS6_HUMAN dual specificity phosphatase 6 isoform a 125 Rhodanese. dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity 0 CGGCAGCCCTCGTCCTTGAGC 0.687 NA 6 2 0 0 0 0 LUM 4060 broad.mit.edu 37 12 91502199 91502199 + Silent SNP G G C rs144214151 TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr12:91502199G>C uc001tbm.2 - 2 947 c.558C>G c.(556-558)CTC>CTG p.L186L LUM_uc001tbn.2_Intron NM_002345 NP_002336 P51884 LUM_HUMAN lumican precursor 186 LRR 6. collagen fibril organization|visual perception extracellular space|fibrillar collagen collagen binding|extracellular matrix structural constituent central_nervous_system(2) 2 CAAGGTATTCGAGTGATTTAA 0.433 NA 40 12 0 0 0 0 C12orf51 283450 broad.mit.edu 37 12 112622228 112622228 + Silent SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr12:112622228G>A uc009zwc.2 - 54 9294 c.9276C>T c.(9274-9276)GCC>GCT p.A3092A NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 GCTCGAGGCCGGCAGGCAGCG 0.627 NA 11 1 0 0 0 0 TBX3 6926 broad.mit.edu 37 12 115109999 115109999 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr12:115109999G>A uc001tvt.1 - 8 2843 c.1879C>T c.(1879-1881)CCC>TCC p.P627S TBX3_uc001tvu.1_Missense_Mutation_p.P607S NM_016569 NP_057653 O15119 TBX3_HUMAN T-box 3 protein isoform 2 627 Transcription repression. SAAASSSVHRHPF -> LRQPQLRCTAPL (in Ref. 1). anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development nucleus sequence-specific DNA binding ovary(2)|skin(1) 3 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0574) TTGAGGAAGGGGTGGCGGTGC 0.682 NA 3 2 0 0 0 0 HNF1A 6927 broad.mit.edu 37 12 121438953 121438953 + Silent SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr12:121438953C>A uc001tzg.2 + 10 1877 c.1854C>A c.(1852-1854)ATC>ATA p.I618I HNF1A_uc010szn.1_Silent_p.I625I NM_000545 NP_000536 P20823 HNF1A_HUMAN hepatic nuclear factor-1-alpha 618 I -> M (in MODY3). glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding liver(92)|large_intestine(15)|endometrium(6)|breast(2)|lung(1) 116 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) ACAGCGTCATCGAGACCTTCA 0.617 NA Hepatic_Adenoma_Familial_Clustering_of 10 5 1.59e-06 1.97e-06 1 0 CDK8 1024 broad.mit.edu 37 13 26911771 26911771 + Missense_Mutation SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr13:26911771G>C uc001uqr.1 + 2 222 c.196G>C c.(196-198)GAA>CAA p.E66Q CDK8_uc001uqs.1_Missense_Mutation_p.E66Q|CDK8_uc001uqt.1_5'UTR NM_001260 NP_001251 P49336 CDK8_HUMAN cyclin-dependent kinase 8 66 Protein kinase. regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity lung(2)|large_intestine(1)|ovary(1)|skin(1) 5 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188) GGCATGTAGAGAAATAGCAGT 0.289 NA 30 51 0 0 0 0 ALG5 29880 broad.mit.edu 37 13 37524134 37524134 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr13:37524134C>T uc001uvy.2 - 10 987 c.920G>A c.(919-921)CGA>CAA p.R307Q ALG5_uc010teq.1_Missense_Mutation_p.R277Q|ALG5_uc010ter.1_RNA NM_013338 NP_037470 Q9Y673 ALG5_HUMAN dolichyl-phosphate beta-glucosyltransferase 307 Lumenal (Potential). dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity 0 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472) ATATCGAAGTCGTATAAAAAG 0.353 NA 16 33 0 0 0 0 FREM2 341640 broad.mit.edu 37 13 39446956 39446956 + Silent SNP G G T rs147947821 TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr13:39446956G>T uc001uwv.2 + 17 8370 c.8061G>T c.(8059-8061)GGG>GGT p.G2687G NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 2687 Extracellular (Potential). cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) CCCCCGTGGGGGTAGGAGGCT 0.488 NA 40 64 9.89e-21 1.44e-20 1 0 HTR2A 3356 broad.mit.edu 37 13 47409480 47409480 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr13:47409480G>A uc001vbq.2 - 3 1042 c.908C>T c.(907-909)CCA>CTA p.P303L HTR2A_uc001vbr.2_Missense_Mutation_p.P203L|HTR2A_uc010acr.2_Missense_Mutation_p.P303L NM_000621 NP_000612 P28223 5HT2A_HUMAN 5-hydroxytryptamine receptor 2A isoform 1 303 Cytoplasmic (By similarity). ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission integral to plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333) GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224) Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) GTAGGACCCTGGCTCCCTATG 0.517 NA 21 29 0 0 0 0 SLC15A1 6564 broad.mit.edu 37 13 99364806 99364806 + Silent SNP A A G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr13:99364806A>G uc001vno.2 - 10 833 c.756T>C c.(754-756)AGT>AGC p.S252S NM_005073 NP_005064 P46059 S15A1_HUMAN solute carrier family 15 (oligopeptide 252 Cytoplasmic (Potential). digestion|protein transport integral to plasma membrane|membrane fraction peptide:hydrogen symporter activity ovary(1) 1 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000) GAAATGCCTTACTCCGATGCC 0.433 NA 37 92 0 0 0 0 DOCK9 23348 broad.mit.edu 37 13 99452600 99452600 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr13:99452600G>A uc001vnt.2 - 52 5958 c.5903C>T c.(5902-5904)TCG>TTG p.S1968L DOCK9_uc001vnw.2_Missense_Mutation_p.S1967L|DOCK9_uc001vnq.2_Missense_Mutation_p.S515L|DOCK9_uc001vnr.2_Missense_Mutation_p.S597L|DOCK9_uc010tin.1_Missense_Mutation_p.S586L|DOCK9_uc001vns.2_Missense_Mutation_p.S503L|DOCK9_uc010tio.1_Missense_Mutation_p.S623L|DOCK9_uc010tip.1_Missense_Mutation_p.S664L NM_015296 NP_056111 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 isoform a 1968 Potential.|DHR-2. blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity central_nervous_system(1) 1 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CACCTCGGCCGAGGAGCACAG 0.612 NA 11 21 0 0 0 0 COL4A1 1282 broad.mit.edu 37 13 110814632 110814632 + Silent SNP G G A rs149068853 TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr13:110814632G>A uc001vqw.3 - 48 4529 c.4407C>T c.(4405-4407)CAC>CAT p.H1469H COL4A1_uc010agl.2_Intron NM_001845 NP_001836 P02462 CO4A1_HUMAN alpha 1 type IV collagen preproprotein 1469 Collagen IV NC1. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) AAGAGTACCCGTGGTAAAGAA 0.512 NA 7 373 0 0 0 0 COL4A1 1282 broad.mit.edu 37 13 110828798 110828798 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr13:110828798C>T uc001vqw.3 - 36 3153 c.3031G>A c.(3031-3033)GGA>AGA p.G1011R COL4A1_uc010agl.2_Intron NM_001845 NP_001836 P02462 CO4A1_HUMAN alpha 1 type IV collagen preproprotein 1011 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CCAACAGATCCTTTTGGTCCC 0.483 NA 23 44 0 0 0 0 OR4Q3 441669 broad.mit.edu 37 14 20216179 20216179 + Missense_Mutation SNP T T A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr14:20216179T>A uc010tkt.1 + 1 593 c.593T>A c.(592-594)GTG>GAG p.V198E NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, 198 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GTGGTAGAGGTGCTGGTGATA 0.493 NA 25 36 0 0 0 0 METTL3 56339 broad.mit.edu 37 14 21969087 21969087 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr14:21969087C>T uc001wbc.2 - 5 1176 c.1084G>A c.(1084-1086)GAT>AAT p.D362N METTL3_uc001wbb.2_Missense_Mutation_p.D207N|METTL3_uc010tlw.1_RNA NM_019852 NP_062826 Q86U44 MTA70_HUMAN methyltransferase like 3 362 gene expression nuclear speck mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding pancreas(1)|skin(1) 2 all_cancers(95;0.000628) Epithelial(56;6.61e-06) GBM - Glioblastoma multiforme(265;0.0146) GCACTGGAATCACCTCCGACA 0.507 NA 12 8 0 0 0 0 PLEKHG3 26030 broad.mit.edu 37 14 65194605 65194605 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr14:65194605C>T uc001xho.1 + 2 525 c.256C>T c.(256-258)CCT>TCT p.P86S PLEKHG3_uc001xhn.1_Missense_Mutation_p.P86S|PLEKHG3_uc001xhp.2_Missense_Mutation_p.P86S|PLEKHG3_uc010aqh.1_5'Flank NM_015549 NP_056364 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G, 86 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(1) 1 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) AGCGGCAGGGCCTGCACACCA 0.637 NA 8 4 0 0 0 0 CYFIP1 23191 broad.mit.edu 37 15 22956494 22956494 + Missense_Mutation SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr15:22956494G>C uc001yus.2 + 16 1835 c.1731G>C c.(1729-1731)AAG>AAC p.K577N CYFIP1_uc001yut.2_Missense_Mutation_p.K577N|CYFIP1_uc010aya.1_Missense_Mutation_p.K605N|CYFIP1_uc001yuu.2_Missense_Mutation_p.K146N NM_014608 NP_055423 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 isoform 577 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding ovary(4)|pancreas(3)|liver(1)|skin(1) 9 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) GTGGTTCCAAGAAAACCTTGA 0.408 NA 32 15 0 0 0 0 C15orf2 23742 broad.mit.edu 37 15 24923926 24923926 + Missense_Mutation SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr15:24923926C>G uc001ywo.2 + 1 3386 c.2912C>G c.(2911-2913)GCT>GGT p.A971G NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 971 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) AATGCAAGTGCTTTCCCCAAT 0.483 NA 28 16 0 0 0 0 RYR3 6263 broad.mit.edu 37 15 33954863 33954863 + Missense_Mutation SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr15:33954863G>C uc001zhi.2 + 35 5202 c.5132G>C c.(5131-5133)CGA>CCA p.R1711P RYR3_uc010bar.2_Missense_Mutation_p.R1711P NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 1711 4 X approximate repeats.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GCCCACATCCGAGACCCTGTA 0.562 NA 23 18 0 0 0 0 SLC24A5 283652 broad.mit.edu 37 15 48434437 48434437 + Silent SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr15:48434437C>T uc001zwe.2 + 9 1465 c.1392C>T c.(1390-1392)GAC>GAT p.D464D SLC24A5_uc010bel.2_Silent_p.D404D|MYEF2_uc001zwg.3_3'UTR|MYEF2_uc001zwh.3_3'UTR|MYEF2_uc001zwi.3_3'UTR|MYEF2_uc001zwj.3_3'UTR|SLC24A5_uc001zwk.2_Silent_p.D95D NM_205850 NP_995322 Q71RS6 NCKX5_HUMAN solute carrier family 24, member 5 precursor 464 Extracellular (Potential). response to stimulus integral to membrane|melanosome|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity 0 all_lung(180;0.00217) all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07) GGAAACTAGACAGAAAGTTGG 0.343 NA 40 20 0 0 0 0 FBN1 2200 broad.mit.edu 37 15 48818391 48818391 + Silent SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr15:48818391G>A uc001zwx.1 - 9 1252 c.924C>T c.(922-924)GTC>GTT p.V308V NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 308 EGF-like 5; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) AGTAACTGCTGACTGTGTTTG 0.403 NA 50 11 0 0 0 0 SGK269 79834 broad.mit.edu 37 15 77474169 77474169 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr15:77474169C>T uc002bcm.2 - 3 408 c.100G>A c.(100-102)GAG>AAG p.E34K SGK269_uc002bcn.2_Missense_Mutation_p.E34K NM_024776 NP_079052 Q9H792 PEAK1_HUMAN NKF3 kinase family member 34 cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding 0 STAD - Stomach adenocarcinoma(199;0.124) GGTGCCTTCTCAGGGTCTGGG 0.468 NA 8 182 0 0 0 0 BNC1 646 broad.mit.edu 37 15 83926817 83926817 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr15:83926817C>T uc002bjt.1 - 5 2450 c.2362G>A c.(2362-2364)GAA>AAA p.E788K BNC1_uc010uos.1_Missense_Mutation_p.E776K NM_001717 NP_001708 Q01954 BNC1_HUMAN basonuclin 1 788 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 AAATGATCTTCACTACTCTCC 0.458 NA 36 63 0 0 0 0 AKAP13 11214 broad.mit.edu 37 15 86124699 86124699 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr15:86124699G>A uc002blv.1 + 7 3570 c.3400G>A c.(3400-3402)GTG>ATG p.V1134M AKAP13_uc002blt.1_Missense_Mutation_p.V1134M|AKAP13_uc002blu.1_Missense_Mutation_p.V1134M|AKAP13_uc010bne.1_5'Flank NM_007200 NP_009131 Q12802 AKP13_HUMAN A-kinase anchor protein 13 isoform 2 1134 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 AGGTTTGCCAGTGGCTCTACA 0.507 NA 64 19 0 0 0 0 LRRK1 79705 broad.mit.edu 37 15 101567909 101567909 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr15:101567909G>T uc002bwr.2 + 19 2912 c.2593G>T c.(2593-2595)GAC>TAC p.D865Y LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA NM_024652 NP_078928 Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 865 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1) 12 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CAGCCGGGACGACGACGTGCA 0.662 NA 12 7 7.93e-07 9.86e-07 1 0 GRIN2A 2903 broad.mit.edu 37 16 10274094 10274094 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr16:10274094G>T uc002czo.3 - 2 723 c.175C>A c.(175-177)CAG>AAG p.Q59K GRIN2A_uc010uym.1_Missense_Mutation_p.Q59K|GRIN2A_uc002czr.3_Missense_Mutation_p.Q59K|GRIN2A_uc010buk.2_Missense_Mutation_p.Q59K NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 59 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CCCGCCGCCTGCTCGGGGCCC 0.657 NA 44 77 1.85e-21 2.7e-21 1 0 ARHGAP17 55114 broad.mit.edu 37 16 24980081 24980081 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr16:24980081C>A uc002dnb.2 - 5 378 c.285G>T c.(283-285)GAG>GAT p.E95D ARHGAP17_uc002dnc.2_Missense_Mutation_p.E95D|ARHGAP17_uc010vcf.1_Intron|ARHGAP17_uc002dnf.2_Missense_Mutation_p.E3D|ARHGAP17_uc002dng.1_Missense_Mutation_p.E95D NM_001006634 NP_001006635 Q68EM7 RHG17_HUMAN nadrin isoform 1 95 BAR. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding 0 GBM - Glioblastoma multiforme(48;0.0407) CTCCACACGTCTCCAGCATCT 0.507 NA 27 38 2.42e-17 3.41e-17 1 0 RABEP2 79874 broad.mit.edu 37 16 28917494 28917494 + Silent SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr16:28917494G>A uc002drq.2 - 9 1317 c.1269C>T c.(1267-1269)TGC>TGT p.C423C uc010vct.1_Intron|RABEP2_uc010vdf.1_Silent_p.C352C|RABEP2_uc010byn.2_Silent_p.C391C NM_024816 NP_079092 Q9H5N1 RABE2_HUMAN rabaptin, RAB GTPase binding effector protein 2 423 Potential. endocytosis|protein transport early endosome growth factor activity|GTPase activator activity ovary(1)|breast(1)|skin(1) 3 CTTGCCGCGTGCAGCACAGCA 0.716 NA 7 10 0 0 0 0 SEZ6L2 26470 broad.mit.edu 37 16 29888756 29888756 + Missense_Mutation SNP A A T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr16:29888756A>T uc002duq.3 - 11 1985 c.1745T>A c.(1744-1746)CTG>CAG p.L582Q uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.L512Q|SEZ6L2_uc002dur.3_Missense_Mutation_p.L512Q|SEZ6L2_uc002dus.3_Missense_Mutation_p.L468Q|SEZ6L2_uc010vec.1_Missense_Mutation_p.L582Q|SEZ6L2_uc010ved.1_Missense_Mutation_p.L538Q NM_201575 NP_963869 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 isoform 582 CUB 3.|Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane|plasma membrane ovary(1)|skin(1) 2 CCCGTCGAACAGCGTCAGCAT 0.692 NA 10 26 0 0 0 0 VKORC1 79001 broad.mit.edu 37 16 31105904 31105904 + Silent SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr16:31105904G>A uc002eas.2 - 1 373 c.147C>T c.(145-147)ATC>ATT p.I49I PRSS53_uc002ear.2_5'UTR|VKORC1_uc002eat.2_Silent_p.I49I|VKORC1_uc002eau.2_Silent_p.I49I NM_024006 NP_076869 Q9BQB6 VKOR1_HUMAN vitamin K epoxide reductase complex, subunit 1 49 Cytoplasmic (Potential). peptidyl-glutamic acid carboxylation|post-translational protein modification endoplasmic reticulum membrane|integral to membrane vitamin-K-epoxide reductase (warfarin-sensitive) activity 0 Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682) GCGAACAGCTGATGGCGGTGC 0.682 NA 12 11 0 0 0 0 CMTM1 113540 broad.mit.edu 37 16 66603837 66603837 + Splice_Site SNP A A T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr16:66603837A>T uc002epi.3 + 2 205 c.82_splice c.e2-2 p.S28_splice CMTM1_uc002epb.3_Splice_Site|CMTM1_uc002epc.3_Splice_Site|CMTM1_uc002epd.3_Intron|CMTM1_uc002epe.3_Intron|CMTM1_uc002epf.3_Intron|CMTM1_uc002epg.3_Intron|CMTM1_uc002eph.3_Splice_Site_p.S28_splice|CMTM1_uc002epl.3_Intron|CMTM1_uc002epj.3_Intron|CMTM1_uc002epk.3_Intron|CMTM1_uc002epa.3_Intron|CMTM1_uc002epn.3_Splice_Site_p.S145_splice|CMTM1_uc002epo.3_Splice_Site|CMTM1_uc002epp.3_Splice_Site|CMTM1_uc002epq.3_Splice_Site|CMTM1_uc010cds.2_Splice_Site|CMTM1_uc002epr.3_Splice_Site_p.S145_splice|CMTM1_uc002epm.3_Splice_Site|CMTM1_uc002eps.2_5'Flank NM_181269 NP_851786 Q8IZ96 CKLF1_HUMAN chemokine-like factor superfamily 1 isoform 1 chemotaxis extracellular space|integral to membrane cytokine activity 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222) CTTTTATTGCAGAGTCTTATC 0.323 NA 31 57 0 0 0 0 FUK 197258 broad.mit.edu 37 16 70499039 70499039 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr16:70499039C>T uc002eyy.2 + 4 303 c.245C>T c.(244-246)TCC>TTC p.S82F FUK_uc010vmb.1_Intron|FUK_uc010cft.2_Missense_Mutation_p.S114F|FUK_uc002eyz.2_Intron NM_145059 NP_659496 Q8N0W3 FUK_HUMAN fucokinase 82 cytoplasm ATP binding|fucokinase activity ovary(1) 1 Ovarian(137;0.0694) GTGGTCACATCCGATGTCCTG 0.572 NA 11 14 0 0 0 0 PMFBP1 83449 broad.mit.edu 37 16 72188112 72188112 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr16:72188112C>T uc002fcc.3 - 4 584 c.412G>A c.(412-414)GAG>AAG p.E138K PMFBP1_uc002fcd.2_Missense_Mutation_p.E138K|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_5'UTR NM_031293 NP_112583 Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 138 ovary(2) 2 Ovarian(137;0.179) GTCTATACCTCATCTTCTTTC 0.463 NA 42 68 0 0 0 0 IRF8 3394 broad.mit.edu 37 16 85946795 85946795 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr16:85946795G>T uc002fjh.2 + 5 563 c.506G>T c.(505-507)TGT>TTT p.C169F IRF8_uc010chp.2_Intron NM_002163 NP_002154 Q02556 IRF8_HUMAN interferon regulatory factor 8 169 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity breast(2)|ovary(1) 3 Prostate(104;0.0771) CCGGAGGCCTGTCGGAGTCAG 0.617 NA 48 88 6.17e-35 9.33e-35 1 0 TP53 7157 broad.mit.edu 37 17 7577557 7577557 + Missense_Mutation SNP A A T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr17:7577557A>T uc002gim.2 - 7 918 c.724T>A c.(724-726)TGC>AGC p.C242S TP53_uc002gig.1_Missense_Mutation_p.C242S|TP53_uc002gih.2_Missense_Mutation_p.C242S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C110S|TP53_uc010cng.1_Missense_Mutation_p.C110S|TP53_uc002gii.1_Missense_Mutation_p.C110S|TP53_uc010cnh.1_Missense_Mutation_p.C242S|TP53_uc010cni.1_Missense_Mutation_p.C242S|TP53_uc002gij.2_Missense_Mutation_p.C242S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C149S|TP53_uc002gio.2_Missense_Mutation_p.C110S NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 242 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). Zinc. C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching 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.C242F(63)|p.C242Y(37)|p.C242S(25)|p.C242fs*5(16)|p.C242R(11)|p.C242W(7)|p.0?(7)|p.N239_C242delNSSC(3)|p.C242*(3)|p.S241del(2)|p.C242C(2)|p.C242G(2)|p.C242fs*20(1)|p.C242fs*23(1)|p.Y236_M243delYMCNSSCM(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.C242fs*98(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.S241_G245delSCMGG(1)|p.N239_C242del(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) CCGCCCATGCAGGAACTGTTA 0.577 111 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) 67 22 0 0 0 0 MYH4 4622 broad.mit.edu 37 17 10351339 10351339 + Silent SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr17:10351339G>A uc002gmn.2 - 34 4872 c.4761C>T c.(4759-4761)CTC>CTT p.L1587L uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 1587 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 TTAGCTGATCGAGTTCTTCAT 0.418 NA 6 155 0 0 0 0 COX10 1352 broad.mit.edu 37 17 13977709 13977709 + Missense_Mutation SNP A A G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr17:13977709A>G uc002gof.3 + 2 317 c.113A>G c.(112-114)CAT>CGT p.H38R COX10_uc010vvs.1_5'UTR|COX10_uc010vvt.1_5'UTR NM_001303 NP_001294 Q12887 COX10_HUMAN heme A:farnesyltransferase precursor 38 heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly integral to membrane|mitochondrial membrane protoheme IX farnesyltransferase activity 0 all_lung(20;0.06)|Lung SC(565;0.168) UCEC - Uterine corpus endometrioid carcinoma (92;0.106) AAGTTCTTACATCTTCTCAGG 0.403 NA 63 95 0 0 0 0 THRA 7067 broad.mit.edu 37 17 38249328 38249328 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr17:38249328C>A uc002htw.2 + 10 1649 c.1166C>A c.(1165-1167)CCG>CAG p.P389Q THRA_uc002htx.2_Intron|NR1D1_uc002htz.1_3'UTR|NR1D1_uc010cwq.1_RNA NM_003250 NP_003241 P10827 THA_HUMAN thyroid hormone receptor, alpha isoform 2 389 negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter cytosol|nucleoplasm protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding 0 Colorectal(19;0.000442) Myeloproliferative disorder(1115;0.0255) Levothyroxine(DB00451)|Liothyronine(DB00279) GAAGGCCGGCCGGGCGGGTCA 0.552 NA 31 57 4.42e-11 5.86e-11 1 0 RPS6KB1 6198 broad.mit.edu 37 17 58024140 58024140 + Missense_Mutation SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr17:58024140G>C uc002ixy.2 + 15 1672 c.1569G>C c.(1567-1569)ATG>ATC p.M523I RPS6KB1_uc010ddj.1_Intron|RPS6KB1_uc010wom.1_Missense_Mutation_p.M470I|RPS6KB1_uc010won.1_Missense_Mutation_p.M500I|RPS6KB1_uc010woo.1_Missense_Mutation_p.M458I|RPS6KB1_uc002ixz.2_RNA NM_003161 NP_003152 P23443 KS6B1_HUMAN ribosomal protein S6 kinase, 70kDa, polypeptide 523 Autoinhibitory domain. apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|nucleus|synapse|synaptosome ATP binding|protein binding|protein kinase activity large_intestine(1) 1 all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.57e-12)|all cancers(12;6.41e-11) ACCTGCGTATGAATCTATGAC 0.463 NA 31 45 0 0 0 0 RECQL5 9400 broad.mit.edu 37 17 73657115 73657115 + Missense_Mutation SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr17:73657115C>G uc010dgl.2 - 6 1062 c.906G>C c.(904-906)CAG>CAC p.Q302H RECQL5_uc010dgk.2_Missense_Mutation_p.Q275H|RECQL5_uc002jpb.1_Missense_Mutation_p.Q302H|RECQL5_uc002joz.3_Missense_Mutation_p.Q302H|RECQL5_uc002jpa.3_Missense_Mutation_p.Q302H NM_004259 NP_004250 O94762 RECQ5_HUMAN RecQ protein-like 5 isoform 1 302 Helicase C-terminal. DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding kidney(3) 3 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) TCCAGTCGTTCTGCACCAGCG 0.453 NA Other_identified_genes_with_known_or_suspected_DNA_repair_function 14 110 0 0 0 0 GAA 2548 broad.mit.edu 37 17 78081647 78081647 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr17:78081647G>A uc002jxo.2 + 6 1089 c.907G>A c.(907-909)GAC>AAC p.D303N GAA_uc002jxp.2_Missense_Mutation_p.D303N|GAA_uc002jxq.2_Missense_Mutation_p.D303N NM_001079803 NP_001073271 P10253 LYAG_HUMAN acid alpha-glucosidase preproprotein 303 cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis lysosomal membrane carbohydrate binding|maltose alpha-glucosidase activity ovary(1) 1 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) Acarbose(DB00284) GGCGCTGGAGGACGGCGGGTC 0.677 NA 3 25 0 0 0 0 LAMA1 284217 broad.mit.edu 37 18 7079974 7079974 + Missense_Mutation SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr18:7079974C>G uc002knm.2 - 3 439 c.345G>C c.(343-345)CAG>CAC p.Q115H LAMA1_uc010wzj.1_5'UTR NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 115 Laminin N-terminal. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCTCACCTACCTGTCTTAAGT 0.468 NA 9 59 0 0 0 0 C18orf1 753 broad.mit.edu 37 18 13621229 13621229 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr18:13621229C>T uc002ksa.2 + 5 963 c.295C>T c.(295-297)CGC>TGC p.R99C C18orf1_uc002ksb.2_Missense_Mutation_p.R99C|C18orf1_uc002kse.2_Missense_Mutation_p.R62C|C18orf1_uc002ksf.2_Missense_Mutation_p.R62C|C18orf1_uc002ksg.1_Missense_Mutation_p.R22C|C18orf1_uc002ksh.1_Missense_Mutation_p.R41C|C18orf1_uc002ksi.1_Missense_Mutation_p.R41C NM_181481 NP_852146 O15165 CR001_HUMAN hypothetical protein LOC753 isoform alpha 1 99 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(2)|skin(1) 3 READ - Rectum adenocarcinoma(73;0.0642) CTTCATCAACCGCCCGAACCA 0.637 NA 102 29 0 0 0 0 HRH4 59340 broad.mit.edu 37 18 22056718 22056718 + Missense_Mutation SNP A A T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr18:22056718A>T uc002kvi.2 + 3 465 c.365A>T c.(364-366)TAT>TTT p.Y122F HRH4_uc010xbd.1_Missense_Mutation_p.L67F|HRH4_uc010dlx.2_Intron NM_021624 NP_067637 Q9H3N8 HRH4_HUMAN histamine H4 receptor isoform 1 122 Cytoplasmic (Potential). integral to membrane|plasma membrane histamine receptor activity ovary(2) 2 all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991) Clozapine(DB00363) TAGGTGTCTTATAGAACTCAA 0.378 NA 7 42 0 0 0 0 ZNF521 25925 broad.mit.edu 37 18 22804737 22804737 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr18:22804737C>A uc002kvk.2 - 4 3392 c.3145G>T c.(3145-3147)GGG>TGG p.G1049W ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.G1049W|ZNF521_uc002kvl.2_Missense_Mutation_p.G829W NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 1049 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) ACTGCAGACCCATTCCCTGTC 0.522 NA T PAX5 ALL 19 20 8.01e-06 9.8e-06 1 0 CD226 10666 broad.mit.edu 37 18 67614187 67614187 + Silent SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr18:67614187G>A uc010dqo.2 - 2 612 c.165C>T c.(163-165)ACC>ACT p.T55T CD226_uc002lkm.3_Silent_p.T55T NM_006566 NP_006557 Q15762 CD226_HUMAN CD226 molecule precursor 55 Ig-like C2-type 1.|Extracellular (Potential). cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target cell surface|integral to plasma membrane|membrane raft cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity 0 Esophageal squamous(42;0.129) AATCCTGCTGGGTCCCGATCT 0.463 NA 21 15 0 0 0 0 SAFB2 9667 broad.mit.edu 37 19 5598876 5598876 + Silent SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr19:5598876C>G uc002mcd.2 - 13 1922 c.1710G>C c.(1708-1710)CGG>CGC p.R570R NM_014649 NP_055464 Q14151 SAFB2_HUMAN scaffold attachment factor B2 570 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding 0 UCEC - Uterine corpus endometrioid carcinoma (162;0.000228) TCACGACCGTCCGCTCCATTC 0.507 NA 26 48 0 0 0 0 DUS3L 56931 broad.mit.edu 37 19 5786796 5786796 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr19:5786796C>T uc002mdc.2 - 9 1547 c.1450G>A c.(1450-1452)GAG>AAG p.E484K PRR22_uc002mdb.1_5'Flank|PRR22_uc010xiv.1_5'Flank|DUS3L_uc002mdd.2_Missense_Mutation_p.E242K|DUS3L_uc010duk.2_Missense_Mutation_p.E149K NM_020175 NP_064560 Q96G46 DUS3L_HUMAN dihydrouridine synthase 3-like isoform 1 484 tRNA processing flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding 0 TGCACGCACTCCTCGATGTAC 0.612 NA 19 33 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9000496 9000496 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr19:9000496C>A uc002mkp.2 - 54 40692 c.40488G>T c.(40486-40488)ATG>ATT p.M13496I MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.M313I|MUC16_uc010xki.1_RNA NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 13498 SEA 10.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CAGGGTGATGCATGTTCTCCT 0.478 NA 33 66 9.65e-13 1.31e-12 1 0 ZNF560 147741 broad.mit.edu 37 19 9577562 9577562 + Silent SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr19:9577562G>A uc002mlp.1 - 10 2271 c.2061C>T c.(2059-2061)AAC>AAT p.N687N ZNF560_uc010dwr.1_Silent_p.N581N NM_152476 NP_689689 Q96MR9 ZN560_HUMAN zinc finger protein 560 687 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1) 6 TTCCACATGCGTTACATTCAG 0.373 NA 69 111 0 0 0 0 PPAN-P2RY11 692312 broad.mit.edu 37 19 10221511 10221511 + Silent SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr19:10221511C>T uc002mna.2 + 11 1170 c.1170C>T c.(1168-1170)TTC>TTT p.F390F PPAN-P2RY11_uc010xla.1_Silent_p.F390F|P2RY11_uc002mnc.2_5'Flank|PPAN_uc002mmz.1_Silent_p.F390F|PPAN_uc002mnb.1_Silent_p.F337F NM_001040664 NP_001035754 Q9NQ55 SSF1_HUMAN PPAN-P2RY11 protein 390 RNA splicing nucleolus protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) TCGAGTATTTCTGCCAGGCGG 0.607 NA 67 140 0 0 0 0 KRI1 65095 broad.mit.edu 37 19 10665770 10665770 + Missense_Mutation SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr19:10665770G>C uc002moy.1 - 18 1801 c.1792C>G c.(1792-1794)CGA>GGA p.R598G KRI1_uc002mow.1_Missense_Mutation_p.R217G|KRI1_uc002mox.1_Missense_Mutation_p.R594G NM_023008 NP_075384 Q8N9T8 KRI1_HUMAN KRI1 homolog 598 ovary(1) 1 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) tactcttctCGGCAGAGTGAC 0.303 NA 25 39 0 0 0 0 ZNF878 729747 broad.mit.edu 37 19 12155285 12155285 + Missense_Mutation SNP A A G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr19:12155285A>G uc002mta.1 - 5 1072 c.1072T>C c.(1072-1074)TAT>CAT p.Y358H NM_001080404 NP_001073873 C9JN71 ZN878_HUMAN zinc finger protein 878 311 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding 0 TTACACTCATAGGGTTTCTCT 0.403 NA 33 74 0 0 0 0 CYP4F22 126410 broad.mit.edu 37 19 15651373 15651373 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr19:15651373C>T uc002nbh.3 + 8 951 c.784C>T c.(784-786)CGG>TGG p.R262W NM_173483 NP_775754 Q6NT55 CP4FN_HUMAN cytochrome P450, family 4, subfamily F, 262 endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen ovary(1)|pancreas(1) 2 GGCGGATGGGCGGAGGTTCCG 0.607 NA 29 90 0 0 0 0 UNC13A 23025 broad.mit.edu 37 19 17728564 17728564 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr19:17728564G>A uc002nhd.2 - 40 4769 c.4769C>T c.(4768-4770)ACG>ATG p.T1590M NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN unc-13 homolog A 1502 MHD2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(3) 3 GGTGGCCTGCGTGTAGAGCGA 0.607 NA 50 72 0 0 0 0 DYRK1B 9149 broad.mit.edu 37 19 40321360 40321360 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr19:40321360C>T uc002omj.2 - 3 407 c.127G>A c.(127-129)GCC>ACC p.A43T DYRK1B_uc002omi.2_Missense_Mutation_p.A43T|DYRK1B_uc002omk.2_Missense_Mutation_p.A43T|DYRK1B_uc002oml.2_Missense_Mutation_p.A43T NM_004714 NP_004705 Q9Y463 DYR1B_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 43 positive regulation of transcription, DNA-dependent nucleus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity ovary(4)|stomach(1)|central_nervous_system(1)|skin(1) 7 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) CGCAGCGGGGCTGAGGTTGCA 0.642 NA 30 42 0 0 0 0 ZNF226 7769 broad.mit.edu 37 19 44680226 44680226 + Nonsense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr19:44680226C>T uc002oyp.2 + 6 955 c.811C>T c.(811-813)CAG>TAG p.Q271* ZNF226_uc002oyq.2_Nonsense_Mutation_p.Q154*|ZNF226_uc002oyr.2_Nonsense_Mutation_p.Q154*|ZNF226_uc010ejg.2_3'UTR|ZNF226_uc002oys.2_Nonsense_Mutation_p.Q271*|ZNF226_uc002oyt.2_Nonsense_Mutation_p.Q271* NM_001032373 NP_001027545 Q9NYT6 ZN226_HUMAN zinc finger protein 226 isoform a 271 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352)|all_neural(266;0.202) TGATCTTCATCAGCAGTTACA 0.423 NA 23 42 0 0 0 0 ZNF233 353355 broad.mit.edu 37 19 44778658 44778658 + Silent SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr19:44778658G>T uc002oyz.1 + 5 1972 c.1845G>T c.(1843-1845)ACG>ACT p.T615T ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF233_uc002oyy.1_Silent_p.T430T NM_181756 NP_861421 A6NK53 ZN233_HUMAN zinc finger protein 233 615 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2) 2 Prostate(69;0.0435)|all_neural(266;0.226) GGATCCACACGGGAGAGAAAC 0.438 NA 38 56 1.07e-15 1.49e-15 1 0 ZFP112 7771 broad.mit.edu 37 19 44832694 44832694 + Missense_Mutation SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr19:44832694C>G uc010ejj.2 - 5 1747 c.1634G>C c.(1633-1635)AGA>ACA p.R545T ZFP112_uc002ozc.3_Missense_Mutation_p.R539T|ZFP112_uc010xwy.1_Missense_Mutation_p.R562T|ZFP112_uc010xwz.1_Missense_Mutation_p.R544T NM_001083335 NP_001076804 Q9UJU3 ZF112_HUMAN zinc finger protein 228 isoform 1 545 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2) 5 TGTGTGGACTCTCTGATGAAC 0.423 NA 61 101 0 0 0 0 FCAR 2204 broad.mit.edu 37 19 55396680 55396680 + Nonsense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr19:55396680C>A uc002qhr.1 + 3 301 c.104C>A c.(103-105)TCG>TAG p.S35* FCAR_uc002qhq.2_Nonsense_Mutation_p.S35*|FCAR_uc002qhs.1_RNA|FCAR_uc002qht.1_Nonsense_Mutation_p.S8*|FCAR_uc010esi.1_Nonsense_Mutation_p.S8*|FCAR_uc002qhu.1_Nonsense_Mutation_p.S35*|FCAR_uc002qhv.1_Nonsense_Mutation_p.S35*|FCAR_uc002qhw.1_Nonsense_Mutation_p.S23*|FCAR_uc002qhx.1_Nonsense_Mutation_p.S23*|FCAR_uc002qhy.1_Nonsense_Mutation_p.S23*|FCAR_uc002qhz.1_Nonsense_Mutation_p.S23*|FCAR_uc002qia.1_Intron NM_002000 NP_001991 P24071 FCAR_HUMAN Fc alpha receptor isoform a precursor 35 Extracellular (Potential). immune response extracellular region|integral to plasma membrane IgA binding|receptor activity ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(193;0.0443) TCTGCCAAATCGAGTCCTGTG 0.498 NA 22 34 3.62e-10 4.75e-10 1 0 ZIM3 114026 broad.mit.edu 37 19 57646307 57646307 + Silent SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr19:57646307C>T uc002qnz.1 - 5 1784 c.1398G>A c.(1396-1398)CAG>CAA p.Q466Q NM_052882 NP_443114 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 466 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1)|skin(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GAATTCTTTTCTGGTGCCTAA 0.428 NA 49 70 0 0 0 0 ZNF776 284309 broad.mit.edu 37 19 58265188 58265188 + Silent SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr19:58265188C>A uc002qpx.2 + 3 913 c.690C>A c.(688-690)CTC>CTA p.L230L ZNF587_uc002qqb.2_Intron|ZNF776_uc002qqa.2_Silent_p.L230L NM_173632 NP_775903 Q68DI1 ZN776_HUMAN zinc finger protein 776 230 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256) AGAGACTTCTCCCTAGAGAAG 0.418 NA 38 69 1.05e-18 1.5e-18 1 0 KIDINS220 57498 broad.mit.edu 37 2 8936972 8936972 + Missense_Mutation SNP T T C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr2:8936972T>C uc002qzc.2 - 11 1209 c.1027A>G c.(1027-1029)ACC>GCC p.T343A KIDINS220_uc010yiv.1_Missense_Mutation_p.T109A|KIDINS220_uc002qzd.2_Missense_Mutation_p.T301A|KIDINS220_uc010yiw.1_Missense_Mutation_p.T344A NM_020738 NP_065789 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate of 220 kDa 343 Cytoplasmic (Potential).|ANK 11. activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane ovary(3)|central_nervous_system(1) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CTCATCTTGGTAGCCTTTATA 0.418 NA 64 121 0 0 0 0 APOB 338 broad.mit.edu 37 2 21228818 21228818 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr2:21228818G>T uc002red.2 - 26 11050 c.10922C>A c.(10921-10923)TCT>TAT p.S3641Y NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 3641 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GAAAGACCCAGAATGAATCCG 0.463 NA 14 26 1.58e-08 2.03e-08 1 0 BIRC6 57448 broad.mit.edu 37 2 32728276 32728276 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr2:32728276G>A uc010ezu.2 + 49 9606 c.9472G>A c.(9472-9474)GAA>AAA p.E3158K NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 3158 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) TGACAATGCTGAAGGGATTCA 0.338 NA 7 17 0 0 0 0 LRRTM1 347730 broad.mit.edu 37 2 80529897 80529897 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr2:80529897C>A uc002sok.1 - 2 1318 c.1048G>T c.(1048-1050)GGC>TGC p.G350C CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA NM_178839 NP_849161 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 350 LRRCT.|Lumenal (Potential). axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 ACGTCCTCGCCCTGTGCGTAC 0.672 NA HNSCC(69;0.2) 14 20 1.58e-08 2.03e-08 1 0 MITD1 129531 broad.mit.edu 37 2 99797327 99797327 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr2:99797327C>T uc002szs.1 - 1 166 c.118G>A c.(118-120)GAG>AAG p.E40K MRPL30_uc002szl.1_Intron|MRPL30_uc002szr.2_Intron|MRPL30_uc002szt.1_5'Flank|MRPL30_uc002szu.2_5'Flank|MRPL30_uc002szv.2_5'Flank NM_138798 NP_620153 Q8WV92 MITD1_HUMAN MIT, microtubule interacting and transport, 40 MIT. protein transport late endosome membrane large_intestine(1)|ovary(1) 2 TCAATCCCCTCTTGGTAACAC 0.582 NA 65 104 0 0 0 0 ARHGAP15 55843 broad.mit.edu 37 2 143913079 143913079 + Missense_Mutation SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr2:143913079C>G uc002tvm.3 + 2 171 c.20C>G c.(19-21)TCT>TGT p.S7C ARHGAP15_uc010zbl.1_Missense_Mutation_p.S7C NM_018460 NP_060930 Q53QZ3 RHG15_HUMAN ARHGAP15 7 regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(221;0.151) TCTACAAATTCTGATACTTCC 0.373 NA 11 18 0 0 0 0 ARHGAP15 55843 broad.mit.edu 37 2 143913203 143913203 + Silent SNP T T C rs146989390 by1000genomes TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr2:143913203T>C uc002tvm.3 + 2 295 c.144T>C c.(142-144)GAT>GAC p.D48D ARHGAP15_uc010zbl.1_Silent_p.D48D NM_018460 NP_060930 Q53QZ3 RHG15_HUMAN ARHGAP15 48 regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(221;0.151) TCCTCACCGATGTCGGGAAGG 0.423 NA 26 23 0 0 0 0 KCNJ3 3760 broad.mit.edu 37 2 155711512 155711512 + Missense_Mutation SNP A A G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr2:155711512A>G uc002tyv.1 + 3 1388 c.1193A>G c.(1192-1194)AAA>AGA p.K398R KCNJ3_uc010zce.1_3'UTR NM_002239 NP_002230 P48549 IRK3_HUMAN potassium inwardly-rectifying channel J3 398 Cytoplasmic (By similarity). synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding upper_aerodigestive_tract(1)|pancreas(1) 2 Halothane(DB01159) ATTACTACAAAACTACCATCT 0.388 NA 64 98 0 0 0 0 SCN3A 6328 broad.mit.edu 37 2 165986510 165986510 + Silent SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr2:165986510G>T uc002ucx.2 - 17 3354 c.2862C>A c.(2860-2862)GTC>GTA p.V954V SCN3A_uc002ucy.2_Silent_p.V905V|SCN3A_uc002ucz.2_Silent_p.V905V|SCN3A_uc002uda.1_Silent_p.V774V|SCN3A_uc002udb.1_Silent_p.V774V NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 954 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) TTTGGCCAGCGACCTCCATAC 0.468 NA 188 143 3.08e-103 4.75e-103 1 0 NFE2L2 4780 broad.mit.edu 37 2 178098973 178098973 + Missense_Mutation SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr2:178098973C>G uc002ulh.3 - 2 627 c.72G>C c.(70-72)TGG>TGC p.W24C NFE2L2_uc002ulg.3_Missense_Mutation_p.W8C|NFE2L2_uc010zfa.1_Missense_Mutation_p.W8C|NFE2L2_uc002uli.3_Missense_Mutation_p.W8C|NFE2L2_uc010fra.2_Missense_Mutation_p.W8C|NFE2L2_uc010frb.2_Missense_Mutation_p.W8C NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 24 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) TATCTTGCCTCCAAAGTATGT 0.348 NA Mis NSCLC|HNSCC HNSCC(56;0.16) 19 20 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179465721 179465721 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr2:179465721C>A uc010zfg.1 - 237 48430 c.48206G>T c.(48205-48207)CGT>CTT p.R16069L uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R9764L|TTN_uc010zfi.1_Missense_Mutation_p.R9697L|TTN_uc010zfj.1_Missense_Mutation_p.R9572L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 16996 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTCCACATCACGCTTATTGCA 0.488 NA 138 102 2.82e-58 4.33e-58 1 0 TTN 7273 broad.mit.edu 37 2 179596593 179596593 + Missense_Mutation SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr2:179596593C>G uc010zfg.1 - 55 13501 c.13277G>C c.(13276-13278)TGG>TCG p.W4426S TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.W1087S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 5353 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATCTTTGAACCAAGTGATCTC 0.428 NA 37 139 0 0 0 0 CCDC150 284992 broad.mit.edu 37 2 197538986 197538986 + Missense_Mutation SNP A A G rs36060491 TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr2:197538986A>G uc002utp.1 + 10 1186 c.1051A>G c.(1051-1053)AAA>GAA p.K351E CCDC150_uc010zgq.1_RNA|CCDC150_uc010zgr.1_RNA|CCDC150_uc010zgs.1_Missense_Mutation_p.K19E NM_001080539 NP_001074008 Q8NCX0 CC150_HUMAN coiled-coil domain containing 150 351 0 CCAATTGACTAAAAAGTGTTC 0.338 NA 7 9 0 0 0 0 AOX1 316 broad.mit.edu 37 2 201468754 201468754 + Silent SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr2:201468754C>G uc002uvx.2 + 8 704 c.603C>G c.(601-603)CTC>CTG p.L201L NM_001159 NP_001150 Q06278 ADO_HUMAN aldehyde oxidase 1 201 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity ovary(4)|pancreas(1)|skin(1) 6 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) GTCCAAAACTCTTCGCAGAAG 0.303 NA 32 30 0 0 0 0 ZDBF2 57683 broad.mit.edu 37 2 207170044 207170044 + Missense_Mutation SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr2:207170044G>C uc002vbp.2 + 5 1042 c.792G>C c.(790-792)ATG>ATC p.M264I NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 264 nucleic acid binding|zinc ion binding ovary(3) 3 CTTTACGCATGAATTCAGATA 0.388 NA 30 25 0 0 0 0 C2orf67 151050 broad.mit.edu 37 2 210893657 210893657 + Missense_Mutation SNP A A C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr2:210893657A>C uc002vds.2 - 11 2516 c.2308T>G c.(2308-2310)TAT>GAT p.Y770D C2orf67_uc002vdt.2_Missense_Mutation_p.Y728D NM_152519 NP_689732 A0AUZ9 CB067_HUMAN hypothetical protein LOC151050 770 ovary(3) 3 Renal(323;0.202) Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696) TCTATGTCATAAGAGCTCTCA 0.368 NA 45 65 0 0 0 0 CPS1 1373 broad.mit.edu 37 2 211473158 211473158 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr2:211473158G>A uc002vee.3 + 19 2398 c.2266G>A c.(2266-2268)GGG>AGG p.G756R CPS1_uc010fur.2_Missense_Mutation_p.G762R|CPS1_uc010fus.2_Missense_Mutation_p.G305R NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 756 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) CGTCGTATCCGGGAAGACATC 0.433 NA 76 85 0 0 0 0 TNS1 7145 broad.mit.edu 37 2 218751275 218751275 + Missense_Mutation SNP T T A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr2:218751275T>A uc002vgt.2 - 11 984 c.586A>T c.(586-588)AAC>TAC p.N196Y TNS1_uc002vgr.2_Missense_Mutation_p.N196Y|TNS1_uc002vgs.2_Missense_Mutation_p.N196Y|TNS1_uc010zjv.1_Missense_Mutation_p.N196Y|TNS1_uc010fvj.1_Missense_Mutation_p.N264Y|TNS1_uc010fvk.1_Missense_Mutation_p.N321Y|TNS1_uc002vgu.3_Missense_Mutation_p.N227Y|TNS1_uc010fvi.1_5'Flank NM_022648 NP_072174 Q9HBL0 TENS1_HUMAN tensin 196 C2 tensin-type. cytoplasm|cytoskeleton|focal adhesion actin binding ovary(3)|breast(1) 4 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) GACTCAAAGTTGGGGATGCCG 0.522 NA OREG0015188 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 5 0 0 0 0 HAO1 54363 broad.mit.edu 37 20 7895010 7895010 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr20:7895010C>T uc002wmw.1 - 3 370 c.346G>A c.(346-348)GAA>AAA p.E116K HAO1_uc010gbu.2_Missense_Mutation_p.E116K NM_017545 NP_060015 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase 1 116 FMN hydroxy acid dehydrogenase. cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity ovary(3) 3 GCCACTTCTTCAATTGAGGAG 0.532 NA 14 36 0 0 0 0 BAGE2 85319 broad.mit.edu 37 21 11058168 11058168 + Missense_Mutation SNP A A T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr21:11058168A>T uc002yit.1 - 3 480 c.272T>A c.(271-273)CTG>CAG p.L91Q BAGE_uc002yiw.1_RNA NM_182482 NP_872288 B melanoma antigen family, member 2 precursor 0 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TACATCTTTCAGGAGCTTGGT 0.388 NA 4 47 0 0 0 0 KRTAP27-1 643812 broad.mit.edu 37 21 31709388 31709388 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr21:31709388C>A uc002ynx.1 - 1 625 c.599G>T c.(598-600)GGT>GTT p.G200V NM_001077711 NP_001071179 Q3LI81 KR271_HUMAN keratin associated protein 27-1 200 intermediate filament ovary(2) 2 TTGAGAACCACCAGTAACACA 0.408 NA 14 29 0.000219431 0.000260907 1 0 KRTAP11-1 337880 broad.mit.edu 37 21 32253706 32253706 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr21:32253706G>T uc002yov.2 - 1 169 c.138C>A c.(136-138)TTC>TTA p.F46L NM_175858 NP_787054 Q8IUC1 KR111_HUMAN keratin associated protein 11-1 46 keratin filament structural molecule activity pancreas(1) 1 AGCCAGTCTGGAAGGAACTGG 0.582 NA 24 39 6.21e-17 8.74e-17 1 0 TIAM1 7074 broad.mit.edu 37 21 32554912 32554912 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr21:32554912C>T uc002yow.1 - 16 3185 c.2713G>A c.(2713-2715)GCC>ACC p.A905T TIAM1_uc011adk.1_Missense_Mutation_p.A905T|TIAM1_uc011adl.1_Missense_Mutation_p.A845T NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 905 PDZ. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 GAGTTCAGGGCGTCAGCAGCA 0.498 NA 5 63 0 0 0 0 HSF2BP 11077 broad.mit.edu 37 21 45076541 45076541 + Silent SNP T T A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr21:45076541T>A uc002zdi.2 - 3 446 c.114A>T c.(112-114)ATA>ATT p.I38I RRP1B_uc002zdk.2_5'Flank|HSF2BP_uc011aey.1_Intron NM_007031 NP_008962 O75031 HSF2B_HUMAN heat shock transcription factor 2 binding 38 spermatogenesis|transcription from RNA polymerase II promoter cytosol binding skin(1) 1 STAD - Stomach adenocarcinoma(101;0.18) AGAAGTCCCGTATTTGCATCA 0.393 NA 39 51 0 0 0 0 COL6A2 1292 broad.mit.edu 37 21 47552400 47552400 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr21:47552400C>A uc002zia.1 + 28 3076 c.2994C>A c.(2992-2994)CAC>CAA p.H998Q COL6A2_uc002zib.1_Missense_Mutation_p.H404Q|COL6A2_uc002zic.1_Missense_Mutation_p.T73K|COL6A2_uc010gqe.1_RNA NM_001849 NP_001840 P12110 CO6A2_HUMAN alpha 2 type VI collagen isoform 2C2 precursor 998 Nonhelical region.|VWFA 3. 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) CCGTGTTCCACGAGAAGGACT 0.572 NA 7 18 8.13e-05 9.73e-05 1 0 MYO18B 84700 broad.mit.edu 37 22 26242186 26242187 + Missense_Mutation DNP CC CC AA TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr22:26242186_26242187CC>AA uc003abz.1 + 19 3738_3739 c.3488_3489CC>AA c.(3487-3489)ACC>AAA p.T1163K MYO18B_uc003aca.1_Missense_Mutation_p.T1044K|MYO18B_uc010guy.1_Missense_Mutation_p.T1045K|MYO18B_uc010guz.1_Missense_Mutation_p.T1044K|MYO18B_uc011aka.1_Missense_Mutation_p.T317K|MYO18B_uc011akb.1_Missense_Mutation_p.T676K NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1163 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 GTGAGGAGGACCTTTGCCAGCA 0.668 NA 27 36 0 0 0 0 DOCK3 1795 broad.mit.edu 37 3 51400017 51400017 + Silent SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr3:51400017G>A uc011bds.1 + 49 5228 c.5205G>A c.(5203-5205)TCG>TCA p.S1735S NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 1735 Ser-rich. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) TTCTGTCCTCGTCCCAGGCAA 0.557 NA 32 18 0 0 0 0 PDZRN3 23024 broad.mit.edu 37 3 73432909 73432909 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr3:73432909C>A uc003dpl.1 - 10 2904 c.2808G>T c.(2806-2808)AGG>AGT p.R936S PDZRN3_uc011bgh.1_Missense_Mutation_p.R593S|PDZRN3_uc010hoe.1_Missense_Mutation_p.R634S|PDZRN3_uc011bgf.1_Missense_Mutation_p.R653S|PDZRN3_uc011bgg.1_Missense_Mutation_p.R656S NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 936 ubiquitin-protein ligase activity|zinc ion binding pancreas(2)|ovary(2)|skin(2)|large_intestine(1) 7 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) CCCGCACGGGCCTCTTGGTGA 0.667 NA 19 13 3.99e-14 5.48e-14 1 0 OR5H1 26341 broad.mit.edu 37 3 97852283 97852283 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr3:97852283G>T uc011bgt.1 + 1 742 c.742G>T c.(742-744)GTC>TTC p.V248F NM_001005338 NP_001005338 A6NKK0 OR5H1_HUMAN olfactory receptor, family 5, subfamily H, 248 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 TCTCTTCTCTGTCTCTTTATA 0.413 NA 45 160 3.71e-28 5.52e-28 1 0 MORC1 27136 broad.mit.edu 37 3 108778707 108778707 + Missense_Mutation SNP T T G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr3:108778707T>G uc003dxl.2 - 12 1064 c.977A>C c.(976-978)CAG>CCG p.Q326P MORC1_uc011bhn.1_Missense_Mutation_p.Q326P NM_014429 NP_055244 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 326 Potential. cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding ovary(3)|skin(3)|breast(2) 8 CAAAGCTCTCTGTAATACATC 0.358 NA 7 51 0 0 0 0 PLXNA1 5361 broad.mit.edu 37 3 126736700 126736700 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr3:126736700G>A uc003ejg.2 + 18 3560 c.3556G>A c.(3556-3558)GAG>AAG p.E1186K NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 1209 Extracellular (Potential).|IPT/TIG 4. axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity ovary(1)|pancreas(1)|skin(1) 3 GBM - Glioblastoma multiforme(114;0.155) ACTGCTGTGCGAGGCGCCCAA 0.662 NA 22 71 0 0 0 0 ATP2C1 27032 broad.mit.edu 37 3 130698095 130698095 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr3:130698095C>T uc003enl.2 + 19 1795 c.1573C>T c.(1573-1575)CTT>TTT p.L525F ATP2C1_uc011blg.1_Missense_Mutation_p.L559F|ATP2C1_uc011blh.1_Missense_Mutation_p.L520F|ATP2C1_uc011bli.1_Missense_Mutation_p.L559F|ATP2C1_uc003enk.2_Missense_Mutation_p.L509F|ATP2C1_uc003enm.2_Missense_Mutation_p.L525F|ATP2C1_uc003enn.2_Missense_Mutation_p.L509F|ATP2C1_uc003eno.2_Missense_Mutation_p.L525F|ATP2C1_uc003enp.2_Missense_Mutation_p.L525F|ATP2C1_uc003enq.2_Missense_Mutation_p.L525F|ATP2C1_uc003enr.2_Missense_Mutation_p.L525F|ATP2C1_uc003ens.2_Missense_Mutation_p.L525F|ATP2C1_uc003ent.2_Missense_Mutation_p.L525F|ATP2C1_uc003enu.2_Missense_Mutation_p.L203F NM_014382 NP_055197 P98194 AT2C1_HUMAN calcium-transporting ATPase 2C1 isoform 1a 525 Cytoplasmic (By similarity). actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity skin(1) 1 Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236) TTCCTAAGTTCTTGCTTTGGC 0.373 NA Hailey-Hailey_disease 8 164 0 0 0 0 PLCH1 23007 broad.mit.edu 37 3 155203145 155203145 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr3:155203145C>T uc011bok.1 - 22 3275 c.2998G>A c.(2998-3000)GCA>ACA p.A1000T PLCH1_uc011boj.1_Missense_Mutation_p.V1000I|PLCH1_uc011bol.1_Missense_Mutation_p.A962T NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 1000 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity skin(3)|ovary(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) AGCATCTTACCTAGAGAGTTT 0.423 NA 13 50 0 0 0 0 RSRC1 51319 broad.mit.edu 37 3 157920993 157920993 + Missense_Mutation SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr3:157920993G>C uc003fbt.2 + 4 564 c.453G>C c.(451-453)AAG>AAC p.K151N RSRC1_uc011bou.1_Intron|RSRC1_uc003fbu.1_Missense_Mutation_p.K151N|RSRC1_uc003fbv.2_Intron NM_016625 NP_057709 Q96IZ7 RSRC1_HUMAN arginine/serine-rich coiled-coil 1 151 EK -> GE (in Ref. 3; AAF64267). nucleocytoplasmic transport cytoplasm|nuclear speck protein binding 0 Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575) aaaaggagaaggataaaggga 0.368 NA 9 25 0 0 0 0 SLC2A2 6514 broad.mit.edu 37 3 170716928 170716928 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr3:170716928G>T uc003fhe.1 - 9 1405 c.1096C>A c.(1096-1098)CGT>AGT p.R366S SLC2A2_uc003fhf.1_Missense_Mutation_p.R193S|SLC2A2_uc011bpu.1_Missense_Mutation_p.R239S NM_000340 NP_000331 P11168 GTR2_HUMAN solute carrier family 2 (facilitated glucose 366 Cytoplasmic (Potential). carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion integral to plasma membrane|membrane fraction D-glucose transmembrane transporter activity ovary(1)|central_nervous_system(1) 2 all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14) AAGAGAGAACGTCGCCCTGCC 0.398 NA 39 107 2.55e-27 3.79e-27 1 0 TECRL 253017 broad.mit.edu 37 4 65147243 65147243 + Silent SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr4:65147243G>A uc003hcv.2 - 10 976 c.867C>T c.(865-867)AAC>AAT p.N289N TECRL_uc010ihi.2_RNA NM_001010874 NP_001010874 Q5HYJ1 TECRL_HUMAN steroid 5 alpha-reductase 2-like 2 289 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors 0 ATGTGAAGGGGTTATAATTTG 0.328 NA 19 7 0 0 0 0 NUDT9 53343 broad.mit.edu 37 4 88344060 88344060 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr4:88344060G>A uc003hqq.2 + 1 326 c.3G>A c.(1-3)ATG>ATA p.M1I NUDT9_uc003hqr.2_Intron|NUDT9_uc010ikl.2_Missense_Mutation_p.M1I NM_024047 NP_076952 Q9BW91 NUDT9_HUMAN nudix-type motif 9 isoform a 1 mitochondrion ADP-ribose diphosphatase activity 0 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000937) GGGCGCTCATGGCGGGACGCC 0.672 NA 32 52 0 0 0 0 ANKRD50 57182 broad.mit.edu 37 4 125600031 125600031 + Missense_Mutation SNP T T G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr4:125600031T>G uc003ifg.3 - 2 808 c.542A>C c.(541-543)AAG>ACG p.K181T ANKRD50_uc011cgo.1_Missense_Mutation_p.K2T|ANKRD50_uc010inw.2_Missense_Mutation_p.K181T NM_020337 NP_065070 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 181 central_nervous_system(1) 1 CTGGGGAGGCTTCATTCCCAG 0.398 NA 3 99 0 0 0 0 PCDH10 57575 broad.mit.edu 37 4 134072226 134072226 + Missense_Mutation SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr4:134072226G>C uc003iha.2 + 1 1757 c.931G>C c.(931-933)GAG>CAG p.E311Q uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.E311Q NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 311 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) TGGCAGACTGGAGGTAAGCGG 0.632 NA 37 23 0 0 0 0 NPY5R 4889 broad.mit.edu 37 4 164272687 164272687 + Missense_Mutation SNP A A G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr4:164272687A>G uc003iqn.2 + 4 1444 c.1262A>G c.(1261-1263)AAT>AGT p.N421S NM_006174 NP_006165 Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 421 Helical; Name=7; (Potential). cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane lung(6)|skin(1) 7 all_hematologic(180;0.166) Prostate(90;0.109) TGTTGTCTTAATCCAATTCTA 0.328 NA 45 20 0 0 0 0 CEP72 55722 broad.mit.edu 37 5 637653 637653 + Missense_Mutation SNP C C T rs143077618 TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr5:637653C>T uc003jbf.2 + 7 998 c.926C>T c.(925-927)TCG>TTG p.S309L CEP72_uc011clz.1_RNA NM_018140 NP_060610 Q9P209 CEP72_HUMAN centrosomal protein 72 kDa 309 G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization centrosome|cytosol ovary(1) 1 Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863) ACCGAGGACTCGGCCTCTTCT 0.527 NA 28 50 0 0 0 0 DNAH5 1767 broad.mit.edu 37 5 13719184 13719184 + Nonsense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr5:13719184G>T uc003jfd.2 - 72 12348 c.12306C>A c.(12304-12306)TGC>TGA p.C4102* DNAH5_uc003jfc.2_Nonsense_Mutation_p.C270* NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4102 AAA 6 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) GTCCCAGATGGCAGTTCTGCA 0.418 NA Kartagener_syndrome 22 29 1.11e-12 1.5e-12 1 0 FBXL7 23194 broad.mit.edu 37 5 15616151 15616151 + Missense_Mutation SNP A A G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr5:15616151A>G uc003jfn.1 + 2 578 c.97A>G c.(97-99)AAA>GAA p.K33E NM_012304 NP_036436 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 33 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(1) 3 CACGCCCACTAAAGCCCAGAA 0.453 NA 10 25 0 0 0 0 CDH9 1007 broad.mit.edu 37 5 26885803 26885803 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr5:26885803G>T uc003jgs.1 - 11 1971 c.1802C>A c.(1801-1803)ACC>AAC p.T601N CDH9_uc011cnv.1_Missense_Mutation_p.T194N NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 601 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 GGCTTCTGCGGTGCAGGATTG 0.488 NA 6 20 5.94e-07 7.41e-07 1 0 DAB2 1601 broad.mit.edu 37 5 39376143 39376143 + Missense_Mutation SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr5:39376143C>G uc003jlx.2 - 13 2734 c.2203G>C c.(2203-2205)GAG>CAG p.E735Q DAB2_uc003jlw.2_Missense_Mutation_p.E714Q NM_001343 NP_001334 P98082 DAB2_HUMAN disabled homolog 2 735 Required for interaction with MYO6 (By similarity). cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding kidney(2)|skin(1) 3 all_lung(31;0.000197) Epithelial(62;0.137) AAAGGGTTCTCAAATGCATTG 0.418 NA 19 36 0 0 0 0 MAST4 375449 broad.mit.edu 37 5 66429471 66429471 + Silent SNP A A G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr5:66429471A>G uc003jut.1 + 16 1724 c.1656A>G c.(1654-1656)AAA>AAG p.K552K MAST4_uc003juu.1_Silent_p.K562K|MAST4_uc011cra.1_Silent_p.K535K|MAST4_uc003juv.2_Silent_p.K547K|MAST4_uc003juw.2_Silent_p.K547K NM_015183 NP_055998 O15021 MAST4_HUMAN microtubule associated serine/threonine kinase 744 Protein kinase. cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) TCCTGGATAAACAGGTAAGCT 0.408 NA 21 37 0 0 0 0 GIN1 54826 broad.mit.edu 37 5 102423676 102423676 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr5:102423676C>A uc003koa.1 - 8 1577 c.1495G>T c.(1495-1497)GAT>TAT p.D499Y GIN1_uc003kob.1_Missense_Mutation_p.D352Y|GIN1_uc003koc.1_3'UTR NM_017676 NP_060146 Q9NXP7 GIN1_HUMAN zinc finger, H2C2 domain containing 499 DNA integration DNA binding ovary(1)|skin(1) 2 all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283) Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794) GAACTATGATCGTCTATCAAT 0.318 NA 33 53 3.8e-20 5.5e-20 1 0 APC 324 broad.mit.edu 37 5 112151205 112151205 + Missense_Mutation SNP G G A rs149154604 TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr5:112151205G>A uc010jby.2 + 9 1228 c.848G>A c.(847-849)CGA>CAA p.R283Q APC_uc011cvt.1_Missense_Mutation_p.R265Q|APC_uc003kpz.3_Missense_Mutation_p.R283Q|APC_uc003kpy.3_Missense_Mutation_p.R283Q|APC_uc010jbz.2_5'UTR NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 283 Leu-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.R283*(7) large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) TCAACTACACGAATGGACCAT 0.383 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) 17 31 0 0 0 0 KCNN2 3781 broad.mit.edu 37 5 113831815 113831815 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr5:113831815G>T uc003kqo.2 + 8 2133 c.1676G>T c.(1675-1677)CGG>CTG p.R559L KCNN2_uc003kqp.2_Missense_Mutation_p.R211L|KCNN2_uc010jcg.2_RNA|uc003kqr.1_RNA NM_021614 NP_067627 Q9H2S1 KCNN2_HUMAN small conductance calcium-activated potassium 559 integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity ovary(2) 2 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) GAGCGGTCCCGGTCCTCGTCC 0.512 NA 31 74 2.08e-15 2.9e-15 1 0 PCDHB15 56121 broad.mit.edu 37 5 140627413 140627413 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr5:140627413C>A uc003lje.2 + 1 2267 c.2267C>A c.(2266-2268)ACG>AAG p.T756K NM_018935 NP_061758 Q9Y5E8 PCDBF_HUMAN protocadherin beta 15 precursor 756 Cytoplasmic (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(2)|breast(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTGTGTCTGACGGGAGGCTCT 0.517 NA 71 120 4.98e-18 7.08e-18 1 0 PCDHGA2 56113 broad.mit.edu 37 5 140718609 140718609 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr5:140718609G>T uc003ljk.1 + 1 256 c.71G>T c.(70-72)TGG>TTG p.W24L PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.W24L NM_018915 NP_061738 Q9Y5H1 PCDG2_HUMAN protocadherin gamma subfamily A, 2 isoform 1 24 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGACCCTGTGGGAGGCCAGG 0.577 NA OREG0016854 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 42 1.68e-08 2.15e-08 1 0 PCDHGB3 56102 broad.mit.edu 37 5 140751081 140751081 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr5:140751081C>A uc003ljw.1 + 1 1120 c.1120C>A c.(1120-1122)CTA>ATA p.L374I PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.L374I|PCDHGA6_uc011dau.1_5'Flank NM_018924 NP_061747 Q9Y5G1 PCDGF_HUMAN protocadherin gamma subfamily B, 3 isoform 1 374 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACACATGATCTAGATTCTGG 0.423 NA 7 24 0.00198382 0.00231027 1 0 PCDHGA9 56107 broad.mit.edu 37 5 140784798 140784798 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr5:140784798C>A uc003lkh.1 + 1 2279 c.2279C>A c.(2278-2280)ACC>AAC p.T760N PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.T760N|PCDHGB6_uc003lki.1_5'Flank|PCDHGB6_uc003lkj.1_5'Flank NM_018921 NP_061744 Q9Y5G4 PCDG9_HUMAN protocadherin gamma subfamily A, 9 isoform 1 760 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCTCCCTCACCGCTGACTCA 0.537 NA 44 83 1.49e-19 2.15e-19 1 0 PCDHGB7 56099 broad.mit.edu 37 5 140797510 140797510 + Silent SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr5:140797510G>T uc003lkn.1 + 1 229 c.84G>T c.(82-84)ACG>ACT p.T28T PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Silent_p.T28T NM_018927 NP_061750 Q9Y5F8 PCDGJ_HUMAN protocadherin gamma subfamily B, 7 isoform 1 28 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTACCCCACGCTGTGTGAGC 0.527 NA OREG0016863 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 23 5.51e-06 6.76e-06 1 0 PANK3 79646 broad.mit.edu 37 5 168006280 168006280 + Silent SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr5:168006280G>A uc003lzz.1 - 1 309 c.9C>T c.(7-9)ATC>ATT p.I3I NM_024594 NP_078870 Q9H999 PANK3_HUMAN pantothenate kinase 3 3 coenzyme A biosynthetic process cytoplasm|nucleus ATP binding|pantothenate kinase activity ovary(1) 1 Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188) TGGCATCTTTGATCTTCATGG 0.706 NA 6 9 0 0 0 0 STK10 6793 broad.mit.edu 37 5 171488156 171488156 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr5:171488156C>A uc003mbo.1 - 14 2499 c.2199G>T c.(2197-2199)CAG>CAT p.Q733H NM_005990 NP_005981 O94804 STK10_HUMAN serine/threonine kinase 10 733 Potential. ATP binding|protein serine/threonine kinase activity ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1) 8 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GAAGGAGCTCCTGCTTCTTCA 0.617 NA 71 140 9.12e-31 1.37e-30 1 0 ABT1 29777 broad.mit.edu 37 6 26597372 26597372 + Silent SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr6:26597372G>T uc003nii.2 + 1 193 c.162G>T c.(160-162)CCG>CCT p.P54P NM_013375 NP_037507 Q9ULW3 ABT1_HUMAN activator of basal transcription 1 54 RRM. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleolus DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity ovary(1) 1 GCCATATCCCGCCGCGCTTCC 0.612 NA 16 28 2.32e-09 3.02e-09 1 0 TRIM39 56658 broad.mit.edu 37 6 30297275 30297275 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr6:30297275G>A uc010jrz.2 + 3 493 c.181G>A c.(181-183)GAG>AAG p.E61K HCG18_uc003npx.2_5'Flank|HCG18_uc003npy.2_5'Flank|TRIM39_uc003npz.2_Missense_Mutation_p.E61K|TRIM39_uc003nqb.2_Missense_Mutation_p.E61K|TRIM39_uc003nqc.2_Missense_Mutation_p.E61K|TRIM39_uc010jsa.1_Missense_Mutation_p.E61K NM_021253 NP_067076 Q9HCM9 TRI39_HUMAN tripartite motif-containing 39 isoform 1 61 RING-type. apoptosis cytosol|mitochondrion identical protein binding|zinc ion binding ovary(3) 3 GGAGGACCTAGAGAGGGACTT 0.542 NA 48 83 0 0 0 0 PBX2 5089 broad.mit.edu 37 6 32154610 32154610 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr6:32154610C>T uc003oav.1 - 7 1364 c.1093G>A c.(1093-1095)GAT>AAT p.D365N AGER_uc003oar.2_5'Flank|AGER_uc011dpm.1_5'Flank|AGER_uc011dpn.1_5'Flank|AGER_uc003oal.1_5'Flank|AGER_uc010jtv.1_5'Flank|AGER_uc011dpo.1_5'Flank|AGER_uc003oam.1_5'Flank|AGER_uc003oan.1_5'Flank|AGER_uc003oap.1_5'Flank|AGER_uc003oat.1_5'Flank|AGER_uc003oao.1_5'Flank|AGER_uc003oaq.1_5'Flank|AGER_uc010jtw.1_5'Flank|AGER_uc003oas.1_5'Flank|AGER_uc003oau.1_5'Flank|AGER_uc011dpp.1_5'Flank|AGER_uc011dpq.1_5'Flank|AGER_uc011dpr.1_5'Flank|AGER_uc011dps.1_5'Flank NM_002586 NP_002577 P40425 PBX2_HUMAN pre-B-cell leukemia homeobox 2 365 transcription factor binding ovary(1) 1 GAATAGGAATCTCCGTTGAGC 0.512 NA 30 55 0 0 0 0 APOBEC2 10930 broad.mit.edu 37 6 41029194 41029194 + Silent SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr6:41029194C>A uc003opl.2 + 2 406 c.259C>A c.(259-261)CGG>AGG p.R87R UNC5CL_uc010jxe.1_Intron|APOBEC2_uc010jxf.2_Intron NM_006789 NP_006780 Q9Y235 ABEC2_HUMAN apolipoprotein B mRNA editing enzyme, catalytic 87 DNA demethylation|mRNA processing cytidine deaminase activity|RNA binding|zinc ion binding 0 Ovarian(28;0.0418)|Colorectal(47;0.196) GCAGGCATCTCGGGGATACCT 0.567 NA 36 82 4.34e-12 5.83e-12 1 0 HCRTR2 3062 broad.mit.edu 37 6 55113511 55113511 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr6:55113511G>T uc003pcl.2 + 2 613 c.298G>T c.(298-300)GAT>TAT p.D100Y HCRTR2_uc010jzv.2_RNA|HCRTR2_uc010jzw.1_Missense_Mutation_p.D35Y NM_001526 NP_001517 O43614 OX2R_HUMAN orexin receptor 2 100 Helical; Name=2; (Potential). feeding behavior integral to plasma membrane neuropeptide receptor activity ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1) 6 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) TTCTCTGGCTGATGTGCTCGT 0.453 NA 56 102 6.43e-24 9.47e-24 1 0 COL19A1 1310 broad.mit.edu 37 6 70856592 70856592 + Silent SNP A A T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr6:70856592A>T uc003pfc.1 + 26 1929 c.1812A>T c.(1810-1812)CCA>CCT p.P604P COL19A1_uc010kam.1_Silent_p.P500P NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 604 Triple-helical region 3 (COL3). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 CACGTGGGCCAAAGGTATACA 0.323 NA 5 11 0 0 0 0 SPACA1 81833 broad.mit.edu 37 6 88763681 88763681 + Missense_Mutation SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr6:88763681G>C uc003pmn.2 + 2 343 c.226G>C c.(226-228)GTC>CTC p.V76L NM_030960 NP_112222 Q9HBV2 SACA1_HUMAN sperm acrosome associated 1 precursor 76 Extracellular (Potential). integral to membrane 0 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.11) TAGGAATGTCGTCAAAGAAGT 0.348 NA 8 20 0 0 0 0 ROS1 6098 broad.mit.edu 37 6 117683782 117683782 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr6:117683782C>A uc003pxp.1 - 21 3564 c.3365G>T c.(3364-3366)TGC>TTC p.C1122F ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 1122 Fibronectin type-III 5.|Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) GGCAATAAAGCATCTGGGACT 0.408 NA T GOPC|ROS1 glioblastoma|NSCLC 12 26 0.00010058 0.000120173 1 0 ROS1 6098 broad.mit.edu 37 6 117709005 117709005 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr6:117709005G>A uc003pxp.1 - 13 2151 c.1952C>T c.(1951-1953)GCA>GTA p.A651V ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 651 Fibronectin type-III 3.|Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TGGAGAACTTGCTCTCACAGA 0.488 NA T GOPC|ROS1 glioblastoma|NSCLC 50 70 0 0 0 0 THEMIS 387357 broad.mit.edu 37 6 128222065 128222065 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr6:128222065G>T uc003qbi.2 - 2 332 c.13C>A c.(13-15)CTG>ATG p.L5M THEMIS_uc011ebt.1_Missense_Mutation_p.L5M|THEMIS_uc010kfb.2_Intron NM_001010923 NP_001010923 Q8N1K5 THMS1_HUMAN thymocyte selection pathway associated isoform 5 CABIT 1. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus ovary(2)|skin(2) 4 AATTCTTCCAGTGATAATGCC 0.498 NA 51 69 9.58e-29 1.43e-28 1 0 ENPP3 5169 broad.mit.edu 37 6 132061454 132061454 + Silent SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr6:132061454C>T uc003qcu.3 + 25 2738 c.2391C>T c.(2389-2391)TGC>TGT p.C797C ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Silent_p.C797C NM_005021 NP_005012 O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 797 Extracellular (Potential).|Nuclease. immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity ovary(3)|skin(1) 4 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) CGGAAAACTGCCCTGGGTGGC 0.512 NA 31 50 0 0 0 0 KIAA1244 57221 broad.mit.edu 37 6 138601217 138601217 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr6:138601217G>A uc003qhu.2 + 14 2377 c.2377G>A c.(2377-2379)GTG>ATG p.V793M NM_020340 NP_065073 Q5TH69 BIG3_HUMAN brefeldin A-inhibited guanine 793 SEC7. regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity ovary(1)|skin(1) 2 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) CTACCATCAGGTGCTCGACAG 0.552 NA 28 29 0 0 0 0 PDE10A 10846 broad.mit.edu 37 6 165957010 165957010 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr6:165957010C>A uc003qun.2 - 3 325 c.84G>T c.(82-84)CAG>CAT p.Q28H PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Translation_Start_Site|PDE10A_uc003quo.2_Missense_Mutation_p.Q38H NM_006661 NP_006652 Q9Y233 PDE10_HUMAN phosphodiesterase 10A isoform 2 28 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding ovary(3)|skin(2) 5 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) CATCTAATACCTGGGGGTGAA 0.358 NA 18 28 5.04e-11 6.67e-11 1 0 STK31 56164 broad.mit.edu 37 7 23827673 23827673 + Silent SNP A A G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr7:23827673A>G uc003sws.3 + 21 2629 c.2562A>G c.(2560-2562)TCA>TCG p.S854S STK31_uc003swt.3_Silent_p.S831S|STK31_uc011jze.1_Silent_p.S854S|STK31_uc010kuq.2_Silent_p.S831S|STK31_uc003swv.1_Silent_p.S20S NM_031414 NP_113602 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 isoform a 854 Protein kinase. ATP binding|nucleic acid binding|protein serine/threonine kinase activity skin(3)|lung(2)|ovary(2)|stomach(2) 9 TTCATGGATCACTTCATCAGA 0.353 NA 33 93 0 0 0 0 STK31 56164 broad.mit.edu 37 7 23871841 23871841 + Silent SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr7:23871841C>T uc003sws.3 + 24 2983 c.2916C>T c.(2914-2916)TTC>TTT p.F972F STK31_uc003swt.3_Silent_p.F949F|STK31_uc011jze.1_Silent_p.F949F|STK31_uc010kuq.2_Silent_p.F949F|STK31_uc003swv.1_Silent_p.F138F NM_031414 NP_113602 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 isoform a 972 Protein kinase. ATP binding|nucleic acid binding|protein serine/threonine kinase activity skin(3)|lung(2)|ovary(2)|stomach(2) 9 CTGAATGTTTCTTGATGCCAA 0.353 NA 68 60 0 0 0 0 BBS9 27241 broad.mit.edu 37 7 33397536 33397536 + Nonsense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr7:33397536C>A uc003tdn.1 + 16 2135 c.1622C>A c.(1621-1623)TCA>TAA p.S541* BBS9_uc003tdo.1_Nonsense_Mutation_p.S506*|BBS9_uc003tdp.1_Nonsense_Mutation_p.S536*|BBS9_uc003tdq.1_Nonsense_Mutation_p.S501*|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Nonsense_Mutation_p.S65*|BBS9_uc003tds.1_5'UTR|BBS9_uc011kao.1_Nonsense_Mutation_p.S419* NM_198428 NP_940820 Q3SYG4 PTHB1_HUMAN parathyroid hormone-responsive B1 isoform 2 541 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GBM - Glioblastoma multiforme(11;0.0894) GGTCAGCCTTCAAAAACTGCA 0.378 NA Bardet-Biedl_syndrome 8 107 0.000978159 0.00114638 1 0 INHBA 3624 broad.mit.edu 37 7 41739824 41739824 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr7:41739824G>T uc003thq.2 - 1 384 c.149C>A c.(148-150)TCT>TAT p.S50Y LOC285954_uc003tht.3_Intron|INHBA_uc003thr.2_Missense_Mutation_p.S50Y|LOC285954_uc003ths.2_Intron NM_002192 NP_002183 P08476 INHBA_HUMAN inhibin beta A precursor 50 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity lung(5)|ovary(1) 6 CTCTGGCTGAGAGTTGGGTAC 0.612 NA TSP Lung(11;0.080) 187 256 7.59e-81 1.17e-80 1 0 ZNF716 441234 broad.mit.edu 37 7 57529071 57529071 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr7:57529071G>T uc011kdi.1 + 4 1016 c.904G>T c.(904-906)GGC>TGC p.G302C NM_001159279 NP_001152751 zinc finger protein 716 ovary(2) 2 TGAAGAATGTGGCAAAGCCTT 0.418 NA 8 16 0.00307968 0.00357515 1 0 WBSCR17 64409 broad.mit.edu 37 7 71142291 71142291 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr7:71142291G>T uc003tvy.2 + 9 1500 c.1500G>T c.(1498-1500)CAG>CAT p.Q500H WBSCR17_uc003tvz.2_Missense_Mutation_p.Q199H NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN UDP-GalNAc:polypeptide 500 Ricin B-type lectin.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1) 7 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) GGGGACCACAGGTAGGAGCTC 0.537 NA 61 111 1.03e-35 1.56e-35 1 0 PCLO 27445 broad.mit.edu 37 7 82582174 82582174 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr7:82582174G>T uc003uhx.2 - 5 8384 c.8095C>A c.(8095-8097)CCT>ACT p.P2699T PCLO_uc003uhv.2_Missense_Mutation_p.P2699T|PCLO_uc010lec.2_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 2630 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GGCTCTGGAGGAATTGTTATG 0.403 NA 18 47 3.33e-07 4.17e-07 1 0 ZNF804B 219578 broad.mit.edu 37 7 88847532 88847532 + Nonsense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr7:88847532G>T uc011khi.1 + 2 710 c.172G>T c.(172-174)GAA>TAA p.E58* NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 58 C2H2-type. intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) CTTTTACTGTGAATTATGTGA 0.368 NA HNSCC(36;0.09) 26 29 1.18e-14 1.64e-14 1 0 CCDC132 55610 broad.mit.edu 37 7 92887685 92887685 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr7:92887685G>T uc003umo.2 + 8 685 c.557G>T c.(556-558)CGG>CTG p.R186L CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.R156L|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Intron|CCDC132_uc003umn.2_Missense_Mutation_p.R186L NM_017667 NP_060137 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 isoform a 186 0 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) ACAGATGTACGGTTAAGTGAA 0.299 NA 20 52 3.6e-14 4.96e-14 1 0 PPP1R9A 55607 broad.mit.edu 37 7 94791279 94791279 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr7:94791279G>A uc003unp.2 + 5 2032 c.1750G>A c.(1750-1752)GTC>ATC p.V584I PPP1R9A_uc010lfj.2_Missense_Mutation_p.V584I|PPP1R9A_uc011kif.1_Missense_Mutation_p.V584I|PPP1R9A_uc003unq.2_Missense_Mutation_p.V584I|PPP1R9A_uc011kig.1_Missense_Mutation_p.V584I NM_017650 NP_060120 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory (inhibitor) 584 PDZ. cell junction|synapse|synaptosome actin binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) CAAGGGCAACGTCAGGTAAAT 0.363 NA HNSCC(28;0.073) 5 3 0 0 0 0 TRRAP 8295 broad.mit.edu 37 7 98581764 98581764 + Missense_Mutation SNP A A G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr7:98581764A>G uc003upp.2 + 60 9292 c.9083A>G c.(9082-9084)AAT>AGT p.N3028S TRRAP_uc011kis.1_Missense_Mutation_p.N2999S|TRRAP_uc003upr.2_Missense_Mutation_p.N2716S NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 3028 FAT. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CCCAGTTCAAATAACGCTATG 0.448 NA 43 62 0 0 0 0 MET 4233 broad.mit.edu 37 7 116339752 116339752 + Missense_Mutation SNP A A G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr7:116339752A>G uc003vij.2 + 2 801 c.614A>G c.(613-615)TAT>TGT p.Y205C MET_uc010lkh.2_Missense_Mutation_p.Y205C|MET_uc011knc.1_Missense_Mutation_p.Y205C|MET_uc011knd.1_Missense_Mutation_p.Y205C|MET_uc011kne.1_Missense_Mutation_p.Y205C|MET_uc011knf.1_Missense_Mutation_p.Y205C|MET_uc011kng.1_Missense_Mutation_p.Y205C|MET_uc011knh.1_Missense_Mutation_p.Y205C|MET_uc011kni.1_Missense_Mutation_p.Y205C|MET_uc003vii.1_Missense_Mutation_p.Y224C|MET_uc010lkg.2_Missense_Mutation_p.Y205C|MET_uc011kmz.1_Missense_Mutation_p.Y205C|MET_uc011kna.1_Missense_Mutation_p.Y205C|MET_uc011knb.1_Missense_Mutation_p.Y205C NM_000245 NP_000236 P08581 MET_HUMAN met proto-oncogene isoform b precursor 205 Extracellular (Potential).|Sema. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1) 159 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) AATTCTTCTTATTTCCCAGAT 0.418 NA Mis papillary renal|head-neck squamous cell papillary renal Hereditary_Papillary_Renal_Carcinoma_(type_1) 67 89 0 0 0 0 GRM8 2918 broad.mit.edu 37 7 126544151 126544151 + Missense_Mutation SNP T T C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr7:126544151T>C uc003vlr.2 - 4 1204 c.893A>G c.(892-894)AAC>AGC p.N298S GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.N298S|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_Missense_Mutation_p.N19S NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 298 Extracellular (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) CCCACTTTGGTTTAGTTTTTT 0.368 NA HNSCC(24;0.065) 42 60 0 0 0 0 MGAM 8972 broad.mit.edu 37 7 141755884 141755884 + Missense_Mutation SNP A A C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr7:141755884A>C uc003vwy.2 + 29 3622 c.3568A>C c.(3568-3570)AGC>CGC p.S1190R NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase 1190 Glucoamylase.|Lumenal (Potential). polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity ovary(2) 2 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CCTGCTGAACAGCAATGCCAT 0.512 NA 8 3 0 0 0 0 GALNTL5 168391 broad.mit.edu 37 7 151699803 151699803 + Missense_Mutation SNP T T A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr7:151699803T>A uc003wkp.2 + 6 886 c.663T>A c.(661-663)GAT>GAA p.D221E GALNTL5_uc003wkq.2_5'UTR|GALNTL5_uc003wkr.2_RNA|GALNTL5_uc003wks.2_RNA|GALNTL5_uc010lqf.2_Missense_Mutation_p.D110E NM_145292 NP_660335 Q7Z4T8 GLTL5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 221 Catalytic subdomain A.|Lumenal (Potential). Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups ovary(2) 2 all_neural(206;0.187) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00427) UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166) CCCCAGGGGATGTTCTGGTGT 0.498 NA 25 12 0 0 0 0 MSC 9242 broad.mit.edu 37 8 72754902 72754902 + Silent SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr8:72754902G>T uc003xyx.1 - 2 933 c.615C>A c.(613-615)ACC>ACA p.T205T uc011lff.1_5'Flank|uc003xyy.2_5'Flank NM_005098 NP_005089 O60682 MUSC_HUMAN musculin 205 transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity 0 Breast(64;0.176) Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203) CGATTTAAGCGGTGGTTCCAC 0.493 NA 200 317 3.51e-122 5.43e-122 1 0 PSKH2 85481 broad.mit.edu 37 8 87060915 87060915 + Missense_Mutation SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr8:87060915C>G uc011lfy.1 - 3 934 c.934G>C c.(934-936)GGC>CGC p.G312R NM_033126 NP_149117 Q96QS6 KPSH2_HUMAN protein serine kinase H2 312 Protein kinase. ATP binding|protein serine/threonine kinase activity stomach(2)|lung(2)|ovary(1) 5 STAD - Stomach adenocarcinoma(118;0.129) AGGGCCTGGCCAGCTGACATG 0.512 NA 36 49 0 0 0 0 CDH17 1015 broad.mit.edu 37 8 95174380 95174380 + Silent SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr8:95174380G>T uc003ygh.2 - 11 1418 c.1293C>A c.(1291-1293)ACC>ACA p.T431T CDH17_uc011lgo.1_Silent_p.T217T|CDH17_uc011lgp.1_Silent_p.T431T NM_004063 NP_004054 Q12864 CAD17_HUMAN cadherin 17 precursor 431 Extracellular (Potential).|Cadherin 4. integral to membrane calcium ion binding ovary(5)|skin(1) 6 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) CAAAACAAAGGGTCTTGAAAT 0.313 NA 13 30 6.72e-11 8.85e-11 1 0 PGCP 10404 broad.mit.edu 37 8 97978226 97978226 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr8:97978226G>A uc003yhw.2 + 5 1079 c.913G>A c.(913-915)GGT>AGT p.G305S PGCP_uc010mbe.2_Missense_Mutation_p.G305S NM_016134 NP_057218 Q9Y646 PGCP_HUMAN plasma glutamate carboxypeptidase precursor 305 peptide metabolic process|proteolysis cytoplasm|extracellular space metal ion binding|metallocarboxypeptidase activity upper_aerodigestive_tract(1) 1 Breast(36;1.86e-05) GGATGATGGCGGTGGAGCCTT 0.378 NA 3 56 0 0 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110451290 110451290 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr8:110451290G>A uc003yne.2 + 32 4029 c.3925G>A c.(3925-3927)GAA>AAA p.E1309K NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 1309 Extracellular (Potential).|IPT/TIG 6. 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) TATCTATGTAGAAGTCAGAAA 0.398 NA HNSCC(38;0.096) 64 106 0 0 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110476802 110476802 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr8:110476802C>A uc003yne.2 + 49 7845 c.7741C>A c.(7741-7743)CAC>AAC p.H2581N NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 2581 Extracellular (Potential).|PbH1 2. 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) TGGTGGCACTCACTTTGGCTT 0.463 NA HNSCC(38;0.096) 24 35 2.22e-12 3e-12 1 0 CSMD3 114788 broad.mit.edu 37 8 113246662 113246662 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr8:113246662G>T uc003ynu.2 - 68 10831 c.10672C>A c.(10672-10674)CTT>ATT p.L3558I CSMD3_uc003yns.2_Missense_Mutation_p.L2760I|CSMD3_uc003ynt.2_Missense_Mutation_p.L3518I|CSMD3_uc011lhx.1_Missense_Mutation_p.L3389I NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3558 Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 ACTTTAATAAGATATATGCGT 0.343 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 50 95 1.44e-25 2.13e-25 1 0 CSMD3 114788 broad.mit.edu 37 8 113697930 113697930 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr8:113697930C>A uc003ynu.2 - 15 2346 c.2187G>T c.(2185-2187)ATG>ATT p.M729I CSMD3_uc003yns.2_Missense_Mutation_p.M1I|CSMD3_uc003ynt.2_Missense_Mutation_p.M689I|CSMD3_uc011lhx.1_Missense_Mutation_p.M625I NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 729 Extracellular (Potential).|CUB 4. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GAACTGTTCCCATTGGTGCAG 0.353 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 27 64 1.74e-06 2.15e-06 1 0 ZHX2 22882 broad.mit.edu 37 8 123965602 123965602 + Missense_Mutation SNP T T C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr8:123965602T>C uc003ypk.1 + 3 2419 c.1852T>C c.(1852-1854)TCC>CCC p.S618P NM_014943 NP_055758 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 618 cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) CGACCAGCTCTCCGGTGCCCA 0.532 NA 25 52 0 0 0 0 FAM135B 51059 broad.mit.edu 37 8 139151251 139151251 + Silent SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr8:139151251G>C uc003yuy.2 - 18 4050 c.3879C>G c.(3877-3879)CTC>CTG p.L1293L FAM135B_uc003yux.2_Silent_p.L1194L|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 1293 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TTAGTTGGTAGAGGAAACATT 0.438 NA HNSCC(54;0.14) 12 127 0 0 0 0 FAM135B 51059 broad.mit.edu 37 8 139165165 139165165 + Missense_Mutation SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr8:139165165C>A uc003yuy.2 - 13 1724 c.1553G>T c.(1552-1554)TGT>TTT p.C518F FAM135B_uc003yux.2_Missense_Mutation_p.C419F|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.C80F|FAM135B_uc003yvb.2_Missense_Mutation_p.C80F NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 518 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GCCAGTCCAACATTCATCTTC 0.463 NA HNSCC(54;0.14) 41 165 2.25e-16 3.16e-16 1 0 CYP11B2 1585 broad.mit.edu 37 8 143994844 143994844 + Silent SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr8:143994844C>A uc003yxk.1 - 6 981 c.978G>T c.(976-978)ACG>ACT p.T326T NM_000498 NP_000489 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, 326 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity 0 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) GCTCAAAGAGCGTCATCAGCA 0.622 NA Familial_Hyperaldosteronism_type_I 27 151 3.73e-12 5.03e-12 1 0 NAPRT1 93100 broad.mit.edu 37 8 144658323 144658323 + Silent SNP C C A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr8:144658323C>A uc003yym.3 - 8 1057 c.1032G>T c.(1030-1032)GTG>GTT p.V344V NAPRT1_uc003yyn.3_Silent_p.V344V|NAPRT1_uc011lkh.1_Silent_p.V344V|NAPRT1_uc003yyo.3_Silent_p.V344V NM_145201 NP_660202 Q6XQN6 PNCB_HUMAN nicotinate phosphoribosyltransferase domain 344 nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process cytosol|Golgi apparatus|nucleus nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity ovary(1) 1 all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146) CCAGCCAGGGCACCTGGAACC 0.667 NA 20 34 7.42e-09 9.56e-09 1 0 DENND4C 55667 broad.mit.edu 37 9 19316463 19316463 + Silent SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr9:19316463G>T uc003znq.2 + 7 861 c.828G>T c.(826-828)CCG>CCT p.P276P DENND4C_uc011lnc.1_5'UTR NM_017925 NP_060395 Q5VZ89 DEN4C_HUMAN DENN/MADD domain containing 4C 276 integral to membrane ovary(1)|skin(1) 2 CCAAAAAGCCGTGCAAAAATC 0.328 NA 11 2 7.04e-09 9.09e-09 1 0 FAM75A6 389730 broad.mit.edu 37 9 43626706 43626706 + Missense_Mutation SNP T T A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr9:43626706T>A uc011lrb.1 - 4 2010 c.1981A>T c.(1981-1983)AGG>TGG p.R661W NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN hypothetical protein LOC389730 661 integral to membrane 0 CACAGGTCCCTCTCTAGCTGG 0.562 NA 71 13 0 0 0 0 PGM5 5239 broad.mit.edu 37 9 71098829 71098829 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr9:71098829G>T uc004agr.2 + 9 1573 c.1344G>T c.(1342-1344)AGG>AGT p.R448S NM_021965 NP_068800 Q15124 PGM5_HUMAN phosphoglucomutase 5 448 cell adhesion|cellular calcium ion homeostasis|glucose metabolic process costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity ovary(1)|pancreas(1) 2 ATATCATGAGGGACCTGGAGG 0.507 NA 29 57 7.38e-10 9.63e-10 1 0 IARS 3376 broad.mit.edu 37 9 95009669 95009669 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr9:95009669G>T uc004art.1 - 26 3038 c.2781C>A c.(2779-2781)TTC>TTA p.F927L IARS_uc004ars.1_Missense_Mutation_p.F772L|IARS_uc004aru.3_Missense_Mutation_p.F927L|IARS_uc010mqr.2_Missense_Mutation_p.F817L|IARS_uc010mqt.2_Missense_Mutation_p.F150L NM_013417 NP_038203 P41252 SYIC_HUMAN isoleucine tRNA synthetase 927 isoleucyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|isoleucine-tRNA ligase activity|protein binding ovary(1)|skin(1) 2 L-Isoleucine(DB00167) CAGTCTTCTGGAACTGCTCCA 0.473 NA 24 53 2.24e-21 3.27e-21 1 0 BAAT 570 broad.mit.edu 37 9 104133542 104133542 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr9:104133542G>A uc010mtd.2 - 2 254 c.145C>T c.(145-147)CAC>TAC p.H49Y BAAT_uc004bbd.3_Missense_Mutation_p.H49Y NM_001127610 NP_001121082 Q14032 BAAT_HUMAN bile acid Coenzyme A: amino acid 49 acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process cytosol|peroxisomal matrix carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity ovary(1)|lung(1)|skin(1) 3 Acute lymphoblastic leukemia(62;0.0559) Glycine(DB00145) GCCCTATAGTGGGCTTGAGAA 0.488 NA 33 68 0 0 0 0 OR1N2 138882 broad.mit.edu 37 9 125315511 125315511 + Silent SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr9:125315511G>C uc011lyx.1 + 1 63 c.63G>C c.(61-63)GTG>GTC p.V21V NM_001004457 NP_001004457 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, 21 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2) 4 CAGGCAGAGTGAACCAAACCA 0.423 NA 39 59 0 0 0 0 SDCCAG3 10807 broad.mit.edu 37 9 139301763 139301763 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr9:139301763G>A uc004chi.2 - 5 858 c.653C>T c.(652-654)CCG>CTG p.P218L SDCCAG3_uc004chj.2_Missense_Mutation_p.P195L|SDCCAG3_uc004chk.2_Missense_Mutation_p.P145L NM_001039707 NP_001034796 Q96C92 SDCG3_HUMAN serologically defined colon cancer antigen 3 218 cytoplasm 0 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06) CAGCTCCGACGGGGTGGAGAA 0.657 NA 11 8 0 0 0 0 MAMDC4 158056 broad.mit.edu 37 9 139754408 139754408 + Silent SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr9:139754408G>A uc004cjs.2 + 26 3314 c.3264G>A c.(3262-3264)GTG>GTA p.V1088V MAMDC4_uc011mej.1_Silent_p.V425V NM_206920 NP_996803 Q6UXC1 AEGP_HUMAN apical early endosomal glycoprotein precursor 1167 Helical; (Potential). protein transport integral to membrane breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1) 7 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) TGCTCCTGGTGCTGCTGGGAC 0.627 NA 24 29 0 0 0 0 NELF 26012 broad.mit.edu 37 9 140346851 140346851 + Missense_Mutation SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr9:140346851C>G uc004cna.2 - 12 1434 c.1202G>C c.(1201-1203)GGA>GCA p.G401A C9orf167_uc011mew.1_Intron|NELF_uc011mex.1_Missense_Mutation_p.G198A|NELF_uc010nci.2_Missense_Mutation_p.G145A|NELF_uc011mey.1_RNA|NELF_uc011mez.1_Missense_Mutation_p.G378A|NELF_uc004cmz.2_Missense_Mutation_p.G399A|NELF_uc004cnc.2_Missense_Mutation_p.G376A|NELF_uc004cnb.2_Missense_Mutation_p.G371A NM_001130969 NP_001124441 Q6X4W1 NELF_HUMAN nasal embryonic LHRH factor isoform a 401 nucleus|plasma membrane 0 all_cancers(76;0.0926) OV - Ovarian serous cystadenocarcinoma(145;0.000222)|Epithelial(140;0.000888) GATCTTGGCTCCCTTGTGGTA 0.617 NA 59 121 0 0 0 0 HDHD1A 8226 broad.mit.edu 37 X 7023726 7023726 + Missense_Mutation SNP T T C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chrX:7023726T>C uc004crv.2 - 2 292 c.215A>G c.(214-216)GAG>GGG p.E72G HDHD1A_uc011mhm.1_Missense_Mutation_p.E95G|HDHD1A_uc011mhn.1_Intron|HDHD1A_uc010ndl.2_Missense_Mutation_p.E72G|HDHD1A_uc011mho.1_Missense_Mutation_p.E72G NM_012080 NP_036212 Q08623 HDHD1_HUMAN haloacid dehalogenase-like hydrolase domain 72 nucleotide metabolic process metal ion binding|phosphatase activity 0 Colorectal(8;0.0114)|Medulloblastoma(8;0.184) CACCAGCTCCTCTTTGGACAT 0.502 NA 16 0 0 0 0 0 CNKSR2 22866 broad.mit.edu 37 X 21627262 21627262 + Missense_Mutation SNP C C G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chrX:21627262C>G uc004czx.1 + 20 2255 c.2219C>G c.(2218-2220)TCT>TGT p.S740C CNKSR2_uc004czw.2_Missense_Mutation_p.S740C|CNKSR2_uc011mjn.1_Missense_Mutation_p.S691C|CNKSR2_uc011mjo.1_Missense_Mutation_p.S710C|CNKSR2_uc004czy.2_Missense_Mutation_p.S332C NM_014927 NP_055742 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 740 regulation of signal transduction cytoplasm|membrane protein binding large_intestine(1)|lung(1) 2 CAGTCTCAGTCTTCTCATGAG 0.517 NA 34 10 0 0 0 0 YY2 404281 broad.mit.edu 37 X 21869684 21869684 + Missense_Mutation SNP A A T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chrX:21869684A>T uc010nfq.2 + 4 693 c.496A>T c.(496-498)ATT>TTT p.I166F MBTPS2_uc004dae.2_Missense_Mutation_p.I166F|MBTPS2_uc010nfr.2_5'Flank|MBTPS2_uc004dab.2_Missense_Mutation_p.I166F NM_206923 NP_996806 O15391 TYY2_HUMAN YY2 transcription factor Error:Variant_position_missing_in_O15391_after_alignment regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|plasma membrane DNA binding|zinc ion binding breast(1)|skin(1) 2 GGCAGTTCTCATTAGTGGTGT 0.373 NA 5 78 0 0 0 0 DMD 1756 broad.mit.edu 37 X 32328320 32328320 + Missense_Mutation SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chrX:32328320G>A uc004dda.1 - 42 6240 c.5996C>T c.(5995-5997)ACT>ATT p.T1999I DMD_uc004dcw.2_Missense_Mutation_p.T655I|DMD_uc004dcx.2_Missense_Mutation_p.T658I|DMD_uc004dcz.2_Missense_Mutation_p.T1876I|DMD_uc004dcy.1_Missense_Mutation_p.T1995I|DMD_uc004ddb.1_Missense_Mutation_p.T1991I|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 1999 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) AGTCAAATAAGTAGAAGGCAC 0.393 NA 21 7 0 0 0 0 DMD 1756 broad.mit.edu 37 X 32404497 32404497 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chrX:32404497G>T uc004dda.1 - 33 4848 c.4604C>A c.(4603-4605)ACG>AAG p.T1535K DMD_uc004dcw.2_Missense_Mutation_p.T191K|DMD_uc004dcx.2_Missense_Mutation_p.T194K|DMD_uc004dcz.2_Missense_Mutation_p.T1412K|DMD_uc004dcy.1_Missense_Mutation_p.T1531K|DMD_uc004ddb.1_Missense_Mutation_p.T1527K|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 1535 Spectrin 10.|Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) GGGATTTTCCGTCTGCTTTTT 0.383 NA 49 13 2.43e-17 3.43e-17 1 0 KDM6A 7403 broad.mit.edu 37 X 44938390 44938390 + Splice_Site SNP G G C TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chrX:44938390G>C uc004dge.3 + 20 3314 c.2939_splice c.e20-1 p.D980_splice KDM6A_uc010nhk.2_Splice_Site_p.D946_splice|KDM6A_uc011mkz.1_Splice_Site_p.D1032_splice|KDM6A_uc011mla.1_Splice_Site_p.D935_splice|KDM6A_uc011mlb.1_Splice_Site_p.D987_splice|KDM6A_uc011mlc.1_Splice_Site_p.D684_splice|KDM6A_uc011mld.1_Splice_Site_p.D619_splice NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2) 84 TATTCATGAAGACCTGGGACT 0.328 NA D|N|F|S renal|oesophageal SCC|MM 11 1 0 0 0 0 DRP2 1821 broad.mit.edu 37 X 100494001 100494001 + Missense_Mutation SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chrX:100494001C>T uc004egz.2 + 6 839 c.470C>T c.(469-471)CCC>CTC p.P157L DRP2_uc011mrh.1_Missense_Mutation_p.P79L NM_001939 NP_001930 Q13474 DRP2_HUMAN dystrophin related protein 2 157 Spectrin 1. central nervous system development cytoplasm|cytoskeleton zinc ion binding ovary(2) 2 TCTCGGGGCCCCTACATCTAT 0.463 NA 58 16 0 0 0 0 CAPN6 827 broad.mit.edu 37 X 110491846 110491846 + Missense_Mutation SNP T T G TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chrX:110491846T>G uc004epc.1 - 10 1603 c.1435A>C c.(1435-1437)ACC>CCC p.T479P CAPN6_uc011msu.1_Missense_Mutation_p.T224P NM_014289 NP_055104 Q9Y6Q1 CAN6_HUMAN calpain 6 479 Domain III. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1) 6 AACTCGCTGGTGCGACCATGC 0.502 NA 15 4 0 0 0 0 ALG13 79868 broad.mit.edu 37 X 110924494 110924494 + Silent SNP C C T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chrX:110924494C>T uc011msy.1 + 1 82 c.48C>T c.(46-48)CTC>CTT p.L16L ALG13_uc004epi.1_Silent_p.L16L|ALG13_uc011msw.1_5'UTR|ALG13_uc011msx.1_5'UTR|ALG13_uc011msz.1_5'UTR|ALG13_uc011mta.1_5'UTR|ALG13_uc011mtb.1_5'UTR Q9NP73 ALG13_HUMAN SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae); 16 dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity lung(1) 1 TTGACGACCTCATTGCGTGTG 0.632 NA 123 30 0 0 0 0 SPANXN2 494119 broad.mit.edu 37 X 142795413 142795413 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chrX:142795413G>T uc004fbz.2 - 2 1019 c.265C>A c.(265-267)CTA>ATA p.L89I NM_001009615 NP_001009615 Q5MJ10 SPXN2_HUMAN SPANX-N2 protein 89 ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) GCTGAGTCTAGGCCTTCGTCC 0.488 NA 252 73 9.63e-114 1.49e-113 1 0 AFF2 2334 broad.mit.edu 37 X 148072769 148072769 + Missense_Mutation SNP G G T TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chrX:148072769G>T uc004fcp.2 + 21 4322 c.3843G>T c.(3841-3843)ATG>ATT p.M1281I AFF2_uc004fcq.2_Missense_Mutation_p.M1271I|AFF2_uc004fcr.2_Missense_Mutation_p.M1242I|AFF2_uc011mxb.1_Missense_Mutation_p.M1246I|AFF2_uc004fcs.2_Missense_Mutation_p.M1246I|AFF2_uc011mxc.1_Missense_Mutation_p.M922I NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 1281 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) ACACGCTGATGGGGCCTCTGA 0.493 NA 62 18 2.03e-37 3.08e-37 1 0 TNR 7143 broad.mit.edu 37 1 175362961 175362962 + Frame_Shift_Ins INS - - A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:175362961_175362962insA uc001gkp.1 - 4 1391_1392 c.1310_1311insT c.(1309-1311)CCCfs p.P437fs TNR_uc009wwu.1_Frame_Shift_Ins_p.P437fs|TNR_uc010pmz.1_3'UTR NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 437 Fibronectin type-III 2. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) AAAATGAGAAGGGCTCCCACTG 0.455 NA 164 157 --- --- --- --- NA NA NA NA CRB1 23418 broad.mit.edu 37 1 197390341 197390355 + In_Frame_Del DEL AGATGGCCAGCATGG AGATGGCCAGCATGG - TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr1:197390341_197390355delAGATGGCCAGCATGG uc001gtz.2 + 6 1518_1532 c.1383_1397delAGATGGCCAGCATGG c.(1381-1398)CAAGATGGCCAGCATGGA>CAA p.DGQHG462del CRB1_uc010poz.1_In_Frame_Del_p.DGQHG393del|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_In_Frame_Del_p.DGQHG350del|CRB1_uc010ppb.1_In_Frame_Del_p.DGQHG462del|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_5'UTR|CRB1_uc001gub.1_In_Frame_Del_p.DGQHG111del NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 462_466 Extracellular (Potential).|EGF-like 11. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 CTCACTTCCAAGATGGCCAGCATGGATTCAGCTGC 0.484 NA 19 62 --- --- --- --- NA NA NA NA FGF23 8074 broad.mit.edu 37 12 4479740 4479740 + Frame_Shift_Del DEL C C - TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr12:4479740delC uc001qmq.1 - 3 671 c.525delG c.(523-525)CGGfs p.R175fs NM_020638 NP_065689 Q9GZV9 FGF23_HUMAN fibroblast growth factor 23 precursor 175 cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process extracellular space growth factor activity ovary(2)|breast(1)|skin(1) 4 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206) GGGTGTGCCGCCGTGGTATGG 0.672 NA 31 42 --- --- --- --- NA NA NA NA ITPRIPL2 162073 broad.mit.edu 37 16 19127024 19127026 + In_Frame_Del DEL TGC TGC - TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr16:19127024_19127026delTGC uc002dfu.3 + 1 1771_1773 c.1241_1243delTGC c.(1240-1245)GTGCTG>GTG p.L416del ITPRIPL2_uc002dft.2_In_Frame_Del_p.L112del NM_001034841 NP_001030013 Q3MIP1 IPIL2_HUMAN inositol 1,4,5-triphosphate receptor interacting 416 Cytoplasmic (Potential). integral to membrane skin(2) 2 CTGCTGGCAGTGCTGCTGCGCAA 0.655 NA 83 140 --- --- --- --- NA NA NA NA NANOS3 342977 broad.mit.edu 37 19 13988559 13988561 + In_Frame_Del DEL GAG GAG - TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr19:13988559_13988561delGAG uc002mxj.3 + 1 610_612 c.497_499delGAG c.(496-501)CGAGGA>CGA p.G171del NM_001098622 NP_001092092 P60323 NANO3_HUMAN nanos homolog 3 152 anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis cytoplasmic mRNA processing body|nucleus|stress granule RNA binding|zinc ion binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(19;2e-21) GGCCACCGCCGAGGAGGAGGAGG 0.645 NA 3 4 --- --- --- --- NA NA NA NA PTPRN 5798 broad.mit.edu 37 2 220164922 220164922 + Frame_Shift_Del DEL G G - TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr2:220164922delG uc002vkz.2 - 9 1310 c.1221delC c.(1219-1221)CCCfs p.P407fs PTPRN_uc010zlc.1_Frame_Shift_Del_p.P317fs|PTPRN_uc002vla.2_Frame_Shift_Del_p.P407fs NM_002846 NP_002837 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 407 Extracellular (Potential). response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(2)|lung(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) GTCCAGGCATGGGGGATGTGC 0.632 NA 58 29 --- --- --- --- NA NA NA NA PIK3CA 5290 broad.mit.edu 37 3 178916938 178916940 + In_Frame_Del DEL GAA GAA - TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr3:178916938_178916940delGAA uc003fjk.2 + 2 482_484 c.325_327delGAA c.(325-327)GAAdel p.E110del NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 110 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E109del(2)|p.G106_R108del(1)|p.E110K(1) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AGGCAACCGTGAAGAAAAGATCC 0.34 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 29 90 --- --- --- --- NA NA NA NA SETX 23064 broad.mit.edu 37 9 135203353 135203376 + In_Frame_Del DEL CGTGAATTGGGAGTTGAAGTCCTT CGTGAATTGGGAGTTGAAGTCCTT - TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fdc0ebce-5ba2-4c18-b594-50b33ef6d116 509b9b7a-4866-4142-b194-be5c61237ac8 g.chr9:135203353_135203376delCGTGAATTGGGAGTTGAAGTCCTT uc004cbk.2 - 10 3792_3815 c.3609_3632delAAGGACTTCAACTCCCAATTCACG c.(3607-3633)AGAAGGACTTCAACTCCCAATTCACGT>AGT p.1203_1211RRTSTPNSR>S SETX_uc004cbj.2_In_Frame_Del_p.822_830RRTSTPNSR>S|SETX_uc010mzt.2_In_Frame_Del_p.822_830RRTSTPNSR>S NM_015046 NP_055861 Q7Z333 SETX_HUMAN senataxin 1203_1211 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity ovary(2)|skin(1) 3 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) TCTCTGAATACGTGAATTGGGAGTTGAAGTCCTTCTATCAATAC 0.402 NA 16 70 --- --- --- --- NA NA NA NA