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 AGRN 375790 broad.mit.edu 37 1 978800 978800 + Silent SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr1:978800C>T uc001ack.1 + 8 1616 c.1566C>T c.(1564-1566)CTC>CTT p.L522L NM_198576 NP_940978 O00468 AGRIN_HUMAN agrin precursor 522 Kazal-like 5. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton central_nervous_system(2)|breast(1) 3 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) CCTGTACCCTCGGGCGGGAGA 0.682 NA 5 16 0 0 0 0 PER3 8863 broad.mit.edu 37 1 7896001 7896001 + Missense_Mutation SNP G G C TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr1:7896001G>C uc001aoo.2 + 19 3542 c.3367G>C c.(3367-3369)GAG>CAG p.E1123Q PER3_uc001aop.2_Missense_Mutation_p.E1132Q|PER3_uc010nzw.1_Missense_Mutation_p.E812Q NM_016831 NP_058515 P56645 PER3_HUMAN period 3 1123 CRY binding domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity ovary(1)|pancreas(1)|skin(1) 3 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) CCAGGTACCTGAGAGGTAAGA 0.313 NA 4 39 0 0 0 0 LOC440563 440563 broad.mit.edu 37 1 13183780 13183780 + Silent SNP A A C rs116484938 by1000genomes TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr1:13183780A>C uc010obg.1 - 1 188 c.93T>G c.(91-93)TCT>TCG p.S31S NM_001136561 NP_001130033 B2RXH8 B2RXH8_HUMAN heterogeneous nuclear ribonucleoprotein C-like 31 ribonucleoprotein complex nucleic acid binding|nucleotide binding 0 CCTCCACATCAGATTTCTTGA 0.468 NA 4 54 0 0 0 0 FBXO42 54455 broad.mit.edu 37 1 16641805 16641805 + Missense_Mutation SNP C C G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr1:16641805C>G uc001ayg.2 - 2 325 c.109G>C c.(109-111)GAG>CAG p.E37Q FBXO42_uc001ayf.2_5'UTR|FBXO42_uc001ayh.2_Missense_Mutation_p.E37Q NM_018994 NP_061867 Q6P3S6 FBX42_HUMAN F-box protein 42 37 upper_aerodigestive_tract(1)|skin(1) 2 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693) TCCTCAGCCTCCAATACTGGG 0.498 NA 5 52 0 0 0 0 PADI2 11240 broad.mit.edu 37 1 17397918 17397918 + Missense_Mutation SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr1:17397918C>T uc001baf.2 - 14 1700 c.1618G>A c.(1618-1620)GAG>AAG p.E540K PADI2_uc010ocm.1_Missense_Mutation_p.E424K NM_007365 NP_031391 Q9Y2J8 PADI2_HUMAN peptidyl arginine deiminase, type II 540 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1) 6 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) L-Citrulline(DB00155) TACAGGTTCTCCTGCACAAGG 0.597 NA 15 39 0 0 0 0 PADI4 23569 broad.mit.edu 37 1 17662722 17662722 + Splice_Site SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr1:17662722G>A uc001baj.2 + 4 436 c.408_splice c.e4+1 p.Q136_splice PADI4_uc009vpc.2_Splice_Site_p.Q136_splice NM_012387 NP_036519 Q9UM07 PADI4_HUMAN peptidyl arginine deiminase, type IV chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity ovary(1)|skin(1) 2 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199) L-Citrulline(DB00155) GAAAGATCAGGTACCACTCAC 0.547 NA OREG0013149 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 26 0 0 0 0 ALDH4A1 8659 broad.mit.edu 37 1 19204081 19204081 + Silent SNP G G A rs150927009 TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr1:19204081G>A uc001bbb.2 - 10 1242 c.966C>T c.(964-966)TTC>TTT p.F322F ALDH4A1_uc010ocu.1_Silent_p.F262F|ALDH4A1_uc001bbc.2_Silent_p.F322F NM_170726 NP_733844 P30038 AL4A1_HUMAN aldehyde dehydrogenase 4A1 isoform a precursor 322 proline biosynthetic process|proline catabolic process mitochondrial matrix 1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity 0 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) NADH(DB00157) AGCGGTGCACGAAGTGGAAGT 0.657 NA 7 17 0 0 0 0 TMCO4 255104 broad.mit.edu 37 1 20107215 20107215 + Missense_Mutation SNP G G C TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr1:20107215G>C uc001bcn.2 - 4 279 c.37C>G c.(37-39)CAG>GAG p.Q13E TMCO4_uc001bcm.2_Missense_Mutation_p.Q13E|TMCO4_uc001bco.1_Missense_Mutation_p.Q13E|TMCO4_uc001bcp.1_Missense_Mutation_p.Q13E|TMCO4_uc009vpn.1_Missense_Mutation_p.Q13E|TMCO4_uc001bcq.1_Missense_Mutation_p.Q13E NM_181719 NP_859070 Q5TGY1 TMCO4_HUMAN transmembrane and coiled-coil domains 4 13 integral to membrane 0 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223) AGAGGCTGCTGAGGCAGCCTC 0.498 NA 7 29 0 0 0 0 TMEM57 55219 broad.mit.edu 37 1 25810760 25810760 + Silent SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr1:25810760G>A uc001bkk.2 + 7 1510 c.1308G>A c.(1306-1308)CAG>CAA p.Q436Q TMEM57_uc009vru.2_Silent_p.Q209Q|TMEM57_uc009vrv.2_Silent_p.Q78Q NM_018202 NP_060672 Q8N5G2 MACOI_HUMAN transmembrane protein 57 436 axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part 0 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201) UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649) AGCTGCTGCAGAACAAGTACG 0.572 NA 15 40 0 0 0 0 AHDC1 27245 broad.mit.edu 37 1 27875878 27875878 + Missense_Mutation SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr1:27875878C>T uc009vsy.2 - 6 3718 c.2749G>A c.(2749-2751)GCG>ACG p.A917T AHDC1_uc009vsz.1_Missense_Mutation_p.A917T NM_001029882 NP_001025053 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 917 DNA binding central_nervous_system(1) 1 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) GTCTGGCGCGCGGACAGGACA 0.697 NA 16 43 0 0 0 0 MACF1 23499 broad.mit.edu 37 1 39749116 39749116 + Missense_Mutation SNP A A G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr1:39749116A>G uc010ois.1 + 10 1064 c.859A>G c.(859-861)ATC>GTC p.I287V MACF1_uc001cda.1_Missense_Mutation_p.I195V NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 287 Actin-binding.|CH 2. cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AAAGTCTGTAATCACTTATGT 0.418 NA 13 37 0 0 0 0 PABPC4 8761 broad.mit.edu 37 1 40027815 40027815 + Missense_Mutation SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr1:40027815C>T uc010oiv.1 - 14 2673 c.1775G>A c.(1774-1776)GGA>GAA p.G592E PPIEL_uc001cdk.2_5'Flank|PABPC4_uc001cdl.2_Missense_Mutation_p.G608E|PABPC4_uc001cdm.2_Missense_Mutation_p.G579E NM_003819 NP_003810 Q13310 PABP4_HUMAN poly A binding protein, cytoplasmic 4 isoform 2 592 PABC. 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) CAGCAGCATTCCCGTGATCTT 0.498 NA 7 28 0 0 0 0 LEPR 3953 broad.mit.edu 37 1 66101929 66101929 + Missense_Mutation SNP C C A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr1:66101929C>A uc001dci.2 + 20 2931 c.2729C>A c.(2728-2730)CCT>CAT p.P910H LEPR_uc009waq.2_3'UTR NM_002303 NP_002294 P48357 LEPR_HUMAN leptin receptor isoform 1 910 Cytoplasmic (Potential). 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) ACATGTGGTCCTCTTCTTTTG 0.348 NA 39 96 7.63e-17 1.31e-16 1 0 CHI3L2 1117 broad.mit.edu 37 1 111777615 111777615 + Missense_Mutation SNP G G C TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr1:111777615G>C uc001eam.2 + 5 487 c.416G>C c.(415-417)GGA>GCA p.G139A CHI3L2_uc001ean.2_Missense_Mutation_p.G129A|CHI3L2_uc001eao.2_Missense_Mutation_p.G60A|CHI3L2_uc009wga.2_Missense_Mutation_p.G60A NM_004000 NP_003991 Q15782 CH3L2_HUMAN chitinase 3-like 2 isoform a 139 chitin catabolic process extracellular space cation binding|chitinase activity central_nervous_system(1) 1 all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359) Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141) AACTTTGATGGACTGGATGTA 0.398 NA 4 43 0 0 0 0 PSMD4 5710 broad.mit.edu 37 1 151237665 151237665 + Silent SNP C C G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr1:151237665C>G uc001exl.2 + 5 455 c.393C>G c.(391-393)CTC>CTG p.L131L PSMD4_uc001exn.2_Silent_p.L131L NM_002810 NP_002801 P55036 PSMD4_HUMAN proteasome 26S non-ATPase subunit 4 131 VWFA. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction proteasome complex protein binding|zinc ion binding 0 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) CTAAACGCCTCAAGAAGGAGA 0.443 NA 3 47 0 0 0 0 FLG2 388698 broad.mit.edu 37 1 152327481 152327481 + Silent SNP A A G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr1:152327481A>G uc001ezw.3 - 3 2854 c.2781T>C c.(2779-2781)TCT>TCC p.S927S uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 927 Ser-rich. calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GACTTGAGCCAGAACCATGTT 0.488 NA 498 306 0 0 0 0 ILF2 3608 broad.mit.edu 37 1 153636573 153636573 + Missense_Mutation SNP C C G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr1:153636573C>G uc001fcr.2 - 10 771 c.690G>C c.(688-690)TTG>TTC p.L230F ILF2_uc010pdy.1_Missense_Mutation_p.L192F|ILF2_uc009wok.2_Missense_Mutation_p.L208F NM_004515 NP_004506 Q12905 ILF2_HUMAN interleukin enhancer binding factor 2 230 DZF. immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|ribonucleoprotein complex ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity 0 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) AACGAATCCTCAAGTCCTTCA 0.398 NA 6 33 0 0 0 0 IL6R 3570 broad.mit.edu 37 1 154437818 154437818 + Missense_Mutation SNP T T G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr1:154437818T>G uc001fez.1 + 10 1806 c.1369T>G c.(1369-1371)TAT>GAT p.Y457D IL6R_uc001ffa.1_3'UTR NM_000565 NP_000556 P08887 IL6RA_HUMAN interleukin 6 receptor isoform 1 precursor 457 Cytoplasmic (Potential). acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity ovary(3)|breast(1) 4 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) ACGGAGCCCTTATGACATCAG 0.577 NA 7 128 0 0 0 0 PMVK 10654 broad.mit.edu 37 1 154898882 154898882 + Silent SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr1:154898882G>A uc001ffq.2 - 4 713 c.390C>T c.(388-390)CGC>CGT p.R130R NM_006556 NP_006547 Q15126 PMVK_HUMAN phosphomevalonate kinase 130 R->M: Approximately 4-fold decrease in Vmax for MgATP and R-MVP. Approximately 3-fold increase in Km for MgATP and R- MVP. cholesterol biosynthetic process|protein phosphorylation cytosol|peroxisome ATP binding|phosphomevalonate kinase activity|protein binding 0 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142) BRCA - Breast invasive adenocarcinoma(34;0.00034) ACGCTACAACGCGGACCGTCT 0.627 NA 7 73 0 0 0 0 CCT3 7203 broad.mit.edu 37 1 156290786 156290786 + Missense_Mutation SNP C C G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr1:156290786C>G uc001fol.1 - 7 673 c.453G>C c.(451-453)ATG>ATC p.M151I CCT3_uc001fom.1_Missense_Mutation_p.M150I|CCT3_uc001fon.1_Missense_Mutation_p.M113I|CCT3_uc010phj.1_Missense_Mutation_p.M105I|CCT3_uc010phk.1_Missense_Mutation_p.M105I|CCT3_uc010phl.1_Missense_Mutation_p.M105I NM_005998 NP_005989 P49368 TCPG_HUMAN chaperonin containing TCP1, subunit 3 isoform a 151 'de novo' posttranslational protein folding cytoskeleton|cytosol|plasma membrane ATP binding|unfolded protein binding ovary(1)|skin(1) 2 Hepatocellular(266;0.158) TGTTCAGCATCATATCACTGT 0.423 NA 8 109 0 0 0 0 SPTA1 6708 broad.mit.edu 37 1 158641861 158641861 + Missense_Mutation SNP C C G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr1:158641861C>G uc001fst.1 - 11 1675 c.1476G>C c.(1474-1476)ATG>ATC p.M492I NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 492 Spectrin 6. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) CTTGTCTACTCATCCAACTGT 0.498 NA 27 116 0 0 0 0 FCRLA 84824 broad.mit.edu 37 1 161681748 161681748 + Missense_Mutation SNP G G C TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr1:161681748G>C uc001gbe.2 + 5 835 c.593G>C c.(592-594)AGA>ACA p.R198T FCRLA_uc001gbd.2_Missense_Mutation_p.R192T|FCRLA_uc001gbf.2_Missense_Mutation_p.R103T|FCRLA_uc001gbg.2_Missense_Mutation_p.R52T|FCRLA_uc009wuo.2_Missense_Mutation_p.R58T|FCRLA_uc009wup.2_Intron|FCRLA_uc009wuq.2_Intron NM_032738 NP_116127 Q7L513 FCRLA_HUMAN Fc receptor-like and mucin-like 1 175 Ig-like C2-type 2. cell differentiation cytoplasm|extracellular region 0 all_cancers(52;2.55e-15)|all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00301) CCAATTCTCAGAGCTGTACCC 0.527 NA 5 443 0 0 0 0 C1orf114 57821 broad.mit.edu 37 1 169391472 169391472 + Missense_Mutation SNP G G C TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr1:169391472G>C uc001gga.1 - 3 365 c.197C>G c.(196-198)TCT>TGT p.S66C C1orf114_uc001gfz.1_Missense_Mutation_p.S66C|C1orf114_uc009wvq.1_Missense_Mutation_p.S66C|C1orf114_uc001ggb.2_Missense_Mutation_p.S66C|C1orf114_uc001ggc.1_Missense_Mutation_p.S66C NM_021179 NP_067002 Q5TID7 CA114_HUMAN hypothetical protein LOC57821 66 0 all_hematologic(923;0.208) GTCAGGATCAGAATGCCGTTT 0.378 NA 8 84 0 0 0 0 TDRD5 163589 broad.mit.edu 37 1 179562647 179562647 + Silent SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr1:179562647G>A uc001gnf.1 + 3 535 c.285G>A c.(283-285)AGG>AGA p.R95R TDRD5_uc010pnp.1_Silent_p.R95R NM_173533 NP_775804 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 95 Lotus/OST-HTH 1. DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding ovary(2)|skin(2)|central_nervous_system(1) 5 CAAAACAGAGGAGCAGCCATA 0.438 NA 15 43 0 0 0 0 TPR 7175 broad.mit.edu 37 1 186312565 186312565 + Missense_Mutation SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr1:186312565C>T uc001grv.2 - 27 3940 c.3643G>A c.(3643-3645)GAG>AAG p.E1215K NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR 1215 Potential. carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1) 7 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) TGAGCCACCTCAAACCTAGTT 0.353 NA T NTRK1 papillary thyroid 20 99 0 0 0 0 CFH 3075 broad.mit.edu 37 1 196709904 196709904 + Missense_Mutation SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr1:196709904C>T uc001gtj.3 + 18 3178 c.2938C>T c.(2938-2940)CAC>TAC p.H980Y NM_000186 NP_000177 P08603 CFAH_HUMAN complement factor H isoform a precursor 980 Sushi 16. complement activation, alternative pathway extracellular space skin(4)|ovary(1)|breast(1) 6 AAAATGGTCTCACCCTCCATC 0.338 NA 8 113 0 0 0 0 CFHR2 3080 broad.mit.edu 37 1 196920100 196920100 + Silent SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr1:196920100G>A uc001gtq.1 + 3 449 c.372G>A c.(370-372)GAG>GAA p.E124E CFHR2_uc001gtr.1_Intron NM_005666 NP_005657 P36980 FHR2_HUMAN H factor (complement)-like 3 precursor 124 Sushi 2. extracellular region skin(2)|ovary(1) 3 AAAACAATGAGAACAACATTT 0.393 NA 13 120 0 0 0 0 CRB1 23418 broad.mit.edu 37 1 197298069 197298069 + Silent SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr1:197298069G>A uc001gtz.2 + 2 723 c.588G>A c.(586-588)AAG>AAA p.K196K CRB1_uc010poz.1_Silent_p.K127K|CRB1_uc001gty.1_Silent_p.K196K|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Silent_p.K196K|CRB1_uc010ppb.1_Silent_p.K196K NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 196 Extracellular (Potential).|EGF-like 5; calcium-binding (Potential). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 ATCCCTGCAAGAACGAGGCTA 0.448 NA 4 68 0 0 0 0 PPP1R12B 4660 broad.mit.edu 37 1 202457699 202457699 + Missense_Mutation SNP C C G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr1:202457699C>G uc001gya.1 + 14 2033 c.1889C>G c.(1888-1890)TCT>TGT p.S630C PPP1R12B_uc001gxz.1_Missense_Mutation_p.S630C|PPP1R12B_uc001gyb.1_5'UTR|PPP1R12B_uc001gyc.1_5'UTR NM_002481 NP_002472 O60237 MYPT2_HUMAN protein phosphatase 1, regulatory (inhibitor) 630 regulation of muscle contraction|signal transduction cytoplasm enzyme activator activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(75;0.166) GAAGCAGAGTCTTTACGGAAA 0.433 NA 41 24 0 0 0 0 KLHL12 59349 broad.mit.edu 37 1 202863774 202863774 + Missense_Mutation SNP C C G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr1:202863774C>G uc001gyo.1 - 9 1439 c.1239G>C c.(1237-1239)CAG>CAC p.Q413H KLHL12_uc001gym.1_Missense_Mutation_p.Q146H|KLHL12_uc001gyn.1_Missense_Mutation_p.Q263H|KLHL12_uc010pqc.1_Missense_Mutation_p.Q451H|KLHL12_uc009xah.1_Missense_Mutation_p.Q312H NM_021633 NP_067646 Q53G59 KLH12_HUMAN kelch-like 12 413 Kelch 3.|Interaction with DVL3. Wnt receptor signaling pathway protein binding 0 BRCA - Breast invasive adenocarcinoma(75;0.166) CCCGGGCTGTCTGCATATCTC 0.527 NA 28 262 0 0 0 0 CHIT1 1118 broad.mit.edu 37 1 203186208 203186208 + Nonsense_Mutation SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr1:203186208G>A uc001gzn.2 - 11 1306 c.1210C>T c.(1210-1212)CAG>TAG p.Q404* FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_Intron|CHIT1_uc009xal.1_Nonsense_Mutation_p.Q166*|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Nonsense_Mutation_p.Q395* NM_003465 NP_003456 Q13231 CHIT1_HUMAN chitotriosidase precursor 404 chitin catabolic process|immune response|response to bacterium extracellular space|lysosome cation binding|chitin binding|endochitinase activity 0 TCAGAGGGCTGACCTGGTTTT 0.567 NA OREG0014113 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 122 0 0 0 0 FMOD 2331 broad.mit.edu 37 1 203316510 203316510 + Missense_Mutation SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr1:203316510C>T uc001gzr.2 - 2 1025 c.889G>A c.(889-891)GAG>AAG p.E297K FMOD_uc010pqi.1_RNA NM_002023 NP_002014 Q06828 FMOD_HUMAN fibromodulin precursor 297 LRR 9. transforming growth factor beta receptor complex assembly extracellular space|proteinaceous extracellular matrix ovary(2)|breast(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.171) AGGTCTAGCTCAAGGAGGCTG 0.557 NA 114 105 0 0 0 0 REN 5972 broad.mit.edu 37 1 204128555 204128555 + Missense_Mutation SNP C C G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr1:204128555C>G uc001haq.2 - 5 705 c.661G>C c.(661-663)GAG>CAG p.E221Q NM_000537 NP_000528 P00797 RENI_HUMAN renin preproprotein 221 angiotensin maturation|regulation of MAPKKK cascade extracellular space|membrane aspartic-type endopeptidase activity skin(3)|central_nervous_system(1) 4 all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) Aliskiren(DB01258)|Remikiren(DB00212) AAGACGTCCTCTTTTAGCACC 0.562 NA 18 104 0 0 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204400897 204400897 + Missense_Mutation SNP C C G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr1:204400897C>G uc001haw.2 - 29 4659 c.4180G>C c.(4180-4182)GAG>CAG p.E1394Q PIK3C2B_uc010pqv.1_Missense_Mutation_p.E1366Q NM_002646 NP_002637 O00750 P3C2B_HUMAN phosphoinositide-3-kinase, class 2 beta 1394 PX. cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1) 7 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) TGAGTGTTCTCTCGCATCACC 0.532 NA OREG0014134 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 275 0 0 0 0 SLC41A1 254428 broad.mit.edu 37 1 205779410 205779410 + Missense_Mutation SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr1:205779410G>A uc001hdh.1 - 2 1032 c.160C>T c.(160-162)CGG>TGG p.R54W NM_173854 NP_776253 Q8IVJ1 S41A1_HUMAN solute carrier family 41 member 1 54 integral to membrane|plasma membrane magnesium ion transmembrane transporter activity skin(2) 2 Breast(84;0.0799) BRCA - Breast invasive adenocarcinoma(75;0.0252) GCGTTGGCCCGAGACTCAATC 0.652 NA OREG0014163 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 99 0 0 0 0 CR1 1378 broad.mit.edu 37 1 207741206 207741206 + Silent SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr1:207741206G>A uc001hfy.2 + 17 2780 c.2640G>A c.(2638-2640)GGG>GGA p.G880G CR1_uc009xcl.1_Silent_p.G430G|CR1_uc001hfx.2_Silent_p.G1330G|CR1_uc009xck.1_Silent_p.G430G NM_000573 NP_000564 P17927 CR1_HUMAN complement receptor 1 isoform F precursor 880 Extracellular (Potential).|Sushi 14. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity ovary(3) 3 TTCCTAATGGGAGACACACAG 0.433 NA 10 367 0 0 0 0 LIN9 286826 broad.mit.edu 37 1 226474137 226474137 + Missense_Mutation SNP C C G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr1:226474137C>G uc001hqa.2 - 6 779 c.469G>C c.(469-471)GAC>CAC p.D157H LIN9_uc001hqb.2_Missense_Mutation_p.D122H|LIN9_uc001hqc.2_Missense_Mutation_p.D89H|LIN9_uc009xel.1_Missense_Mutation_p.D122H NM_173083 NP_775106 Q5TKA1 LIN9_HUMAN lin-9 homolog 141 Sufficient for interaction with RB1. cell cycle|DNA replication nucleoplasm 0 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.131) ACACAGAAGTCATTATCACCT 0.318 NA 24 63 0 0 0 0 OBSCN 84033 broad.mit.edu 37 1 228432256 228432256 + Silent SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr1:228432256C>T uc009xez.1 + 11 3509 c.3465C>T c.(3463-3465)TTC>TTT p.F1155F OBSCN_uc001hsn.2_Silent_p.F1155F NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 1155 Ig-like 11. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) GAGTCTCCTTCCACCTGCACA 0.542 NA 11 196 0 0 0 0 OBSCN 84033 broad.mit.edu 37 1 228556503 228556503 + Silent SNP A A G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr1:228556503A>G uc009xez.1 + 89 19892 c.19848A>G c.(19846-19848)CCA>CCG p.P6616P OBSCN_uc001hsr.1_Silent_p.P1245P NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 6616 Protein kinase 1. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) ACATCACCCCAGCAGAGCTGC 0.567 NA 158 98 0 0 0 0 TRIM67 440730 broad.mit.edu 37 1 231335933 231335933 + Missense_Mutation SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr1:231335933C>T uc009xfn.1 + 4 1345 c.1303C>T c.(1303-1305)CGT>TGT p.R435C NM_001004342 NP_001004342 Q6ZTA4 TRI67_HUMAN tripartite motif-containing 67 435 cytoplasm|cytoskeleton zinc ion binding ovary(2)|breast(1)|kidney(1) 4 Breast(184;0.0871) all_cancers(173;0.189)|Prostate(94;0.167) ATTGAAGCTGCGTCAGTCCAC 0.532 NA 14 219 0 0 0 0 FMN2 56776 broad.mit.edu 37 1 240371390 240371390 + Missense_Mutation SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr1:240371390G>A uc010pyd.1 + 5 3503 c.3278G>A c.(3277-3279)GGA>GAA p.G1093E FMN2_uc010pye.1_Missense_Mutation_p.G1097E NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 1093 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) CCTCTACCCGGAGCGGGCATA 0.726 NA 3 9 0 0 0 0 AHCTF1 25909 broad.mit.edu 37 1 247040301 247040301 + Missense_Mutation SNP T T C TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr1:247040301T>C uc001ibu.1 - 22 2895 c.2888A>G c.(2887-2889)AAT>AGT p.N963S AHCTF1_uc001ibv.1_Missense_Mutation_p.N972S|AHCTF1_uc009xgs.1_5'UTR|AHCTF1_uc001ibw.1_RNA NM_015446 NP_056261 Q8WYP5 ELYS_HUMAN transcription factor ELYS 963 Necessary for cytoplasmic localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding ovary(5)|skin(2) 7 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) AGGCACATAATTGGCACGCTG 0.378 NA 12 79 0 0 0 0 OR2L3 391192 broad.mit.edu 37 1 248224496 248224496 + Missense_Mutation SNP G G T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr1:248224496G>T uc001idx.1 + 1 513 c.513G>T c.(511-513)AGG>AGT p.R171S OR2L13_uc001ids.2_Intron NM_001004687 NP_001004687 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, 171 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) GCCAATCCAGGGCCATCAATC 0.473 NA 32 219 1.75e-11 2.97e-11 1 0 LYZL1 84569 broad.mit.edu 37 10 29599073 29599073 + Silent SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr10:29599073C>T uc001iul.2 + 4 528 c.471C>T c.(469-471)ATC>ATT p.I157I NM_032517 NP_115906 Q6UWQ5 LYZL1_HUMAN lysozyme-like 1 111 cell wall macromolecule catabolic process extracellular region lysozyme activity 0 Breast(68;0.203) ATGCAATTATCTGTGCCAGGA 0.433 NA 12 30 0 0 0 0 ANK3 288 broad.mit.edu 37 10 62149197 62149197 + Missense_Mutation SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr10:62149197C>T uc001jky.2 - 1 292 c.100G>A c.(100-102)GAT>AAT p.D34N ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jlb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 34 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 TTCTTCCGATCCCGGGACCGT 0.408 NA 15 60 0 0 0 0 ADAMTS14 140766 broad.mit.edu 37 10 72500862 72500862 + Missense_Mutation SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr10:72500862C>T uc001jrh.2 + 12 1868 c.1868C>T c.(1867-1869)TCC>TTC p.S623F ADAMTS14_uc001jrg.2_Missense_Mutation_p.S626F|ADAMTS14_uc001jri.1_Missense_Mutation_p.S146F NM_080722 NP_542453 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 623 Cys-rich. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|upper_aerodigestive_tract(1) 6 AAGCGCAACTCCTACTATGTG 0.617 NA 13 33 0 0 0 0 C10orf58 84293 broad.mit.edu 37 10 82187156 82187156 + Nonsense_Mutation SNP C C G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr10:82187156C>G uc001kcc.3 + 5 640 c.480C>G c.(478-480)TAC>TAG p.Y160* C10orf58_uc001kcd.3_Nonsense_Mutation_p.Y149*|C10orf58_uc001kce.3_Nonsense_Mutation_p.Y160*|C10orf58_uc001kcf.3_Nonsense_Mutation_p.Y160* NM_032333 NP_115709 Q9BRX8 CJ058_HUMAN hypothetical protein LOC84293 precursor 160 extracellular region 0 Colorectal(32;0.229) GAGTGTGGTACAACTTCTTCC 0.488 NA 4 61 0 0 0 0 PLCE1 51196 broad.mit.edu 37 10 95892130 95892130 + Missense_Mutation SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr10:95892130C>T uc001kjk.2 + 3 2040 c.1406C>T c.(1405-1407)TCT>TTT p.S469F PLCE1_uc010qnx.1_Missense_Mutation_p.S469F|PLCE1_uc001kjm.2_Missense_Mutation_p.S161F NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 469 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity ovary(2)|skin(1) 3 Colorectal(252;0.0458) ATCACCGGTTCTCTCCTAGAA 0.478 NA 7 94 0 0 0 0 ENTPD7 57089 broad.mit.edu 37 10 101451214 101451214 + Missense_Mutation SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr10:101451214G>A uc001kqa.3 + 8 960 c.782G>A c.(781-783)GGA>GAA p.G261E ENTPD7_uc009xwl.2_Missense_Mutation_p.G263E NM_020354 NP_065087 Q9NQZ7 ENTP7_HUMAN ectonucleoside triphosphate diphosphohydrolase 261 Vesicular (Potential). cytoplasmic vesicle membrane|integral to membrane hydrolase activity ovary(1) 1 Colorectal(252;0.234) Epithelial(162;4.72e-10)|all cancers(201;3.75e-08) GATATGGGAGGAGCCTCTCTC 0.453 NA 7 37 0 0 0 0 PNLIPRP2 5408 broad.mit.edu 37 10 118394400 118394400 + Missense_Mutation SNP A A T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr10:118394400A>T uc001lcq.2 + 11 892 c.869A>T c.(868-870)TAC>TTC p.Y290F PNLIPRP2_uc009xyu.1_RNA|PNLIPRP2_uc009xyv.1_RNA NM_005396 NP_005387 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 289 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity large_intestine(1) 1 all cancers(201;0.015) TTCGAGTATTACTCAAGCAGC 0.498 NA 7 34 0 0 0 0 PHRF1 57661 broad.mit.edu 37 11 587346 587346 + Missense_Mutation SNP C C G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr11:587346C>G uc001lqe.2 + 4 433 c.302C>G c.(301-303)TCT>TGT p.S101C PHRF1_uc010qwc.1_Missense_Mutation_p.S101C|PHRF1_uc010qwd.1_Missense_Mutation_p.S100C|PHRF1_uc010qwe.1_Missense_Mutation_p.S97C NM_020901 NP_065952 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 101 RNA polymerase binding|zinc ion binding 0 TCTTTCAATTCTGATGATGAT 0.562 NA 17 31 0 0 0 0 MUC5B 727897 broad.mit.edu 37 11 1157901 1157901 + Missense_Mutation SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr11:1157901G>A uc009ycr.1 + 9 1094 c.968G>A c.(967-969)GGG>GAG p.G323E NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 314 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) CATGCAGGGGGGTTGCCCCAG 0.667 NA 10 31 0 0 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137497 40137497 + Missense_Mutation SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr11:40137497C>T uc001mxa.1 - 2 2310 c.346G>A c.(346-348)GAA>AAA p.E116K LRRC4C_uc001mxc.1_Missense_Mutation_p.E112K|LRRC4C_uc001mxd.1_Missense_Mutation_p.E112K|LRRC4C_uc001mxb.1_Missense_Mutation_p.E112K NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 116 LRR 2. regulation of axonogenesis integral to membrane protein binding ovary(4)|skin(3)|central_nervous_system(1) 8 all_lung(304;0.0575)|Lung NSC(402;0.138) GCCCCAATTTCAATGGTTCTG 0.428 NA 11 58 0 0 0 0 OR5AR1 219493 broad.mit.edu 37 11 56431302 56431302 + Missense_Mutation SNP C C G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr11:56431302C>G uc010rjm.1 + 1 141 c.141C>G c.(139-141)ATC>ATG p.I47M NM_001004730 NP_001004730 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, 47 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GTATGATTATCCTGATTACAA 0.473 NA 10 183 0 0 0 0 NRXN2 9379 broad.mit.edu 37 11 64428240 64428240 + Missense_Mutation SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr11:64428240G>A uc001oar.2 - 11 2609 c.2170C>T c.(2170-2172)CGG>TGG p.R724W NRXN2_uc001oas.2_Missense_Mutation_p.R693W|NRXN2_uc001oaq.2_Missense_Mutation_p.R391W NM_015080 NP_055895 P58401 NRX2B_HUMAN neurexin 2 isoform alpha-1 precursor Error:Variant_position_missing_in_P58401_after_alignment cell adhesion integral to membrane upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1) 10 TCACAGACCCGCCCAAGAAAG 0.592 NA 17 45 0 0 0 0 RELT 84957 broad.mit.edu 37 11 73106303 73106303 + Silent SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr11:73106303G>A uc001otv.2 + 10 1383 c.1218G>A c.(1216-1218)CTG>CTA p.L406L RELT_uc001otw.2_Silent_p.L406L|RELT_uc001otx.2_RNA NM_152222 NP_689408 Q969Z4 TR19L_HUMAN RELT tumor necrosis factor receptor precursor 406 Cytoplasmic (Potential). cytoplasm|integral to membrane|plasma membrane binding|receptor activity upper_aerodigestive_tract(1) 1 CAAAGTGGCTGAAGCCCCCAG 0.642 NA 5 105 0 0 0 0 SLC36A4 120103 broad.mit.edu 37 11 92918982 92918982 + Splice_Site SNP T T A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr11:92918982T>A uc001pdn.2 - 2 153 c.56_splice c.e2-1 p.D19_splice SLC36A4_uc001pdm.2_Splice_Site NM_152313 NP_689526 Q6YBV0 S36A4_HUMAN solute carrier family 36 (proton/amino acid L-alanine transport|proline transport|tryptophan transport integral to membrane symporter activity ovary(2)|upper_aerodigestive_tract(1) 3 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) CATCCATATCTTTAAAAAAGA 0.333 NA 9 13 0 0 0 0 IL10RA 3587 broad.mit.edu 37 11 117864051 117864051 + Missense_Mutation SNP G G T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr11:117864051G>T uc001prv.2 + 4 540 c.463G>T c.(463-465)GAC>TAC p.D155Y IL10RA_uc010rxl.1_Missense_Mutation_p.D135Y|IL10RA_uc010rxm.1_Missense_Mutation_p.D135Y|IL10RA_uc010rxn.1_Missense_Mutation_p.D6Y|IL10RA_uc001prw.2_Missense_Mutation_p.D6Y NM_001558 NP_001549 Q13651 I10R1_HUMAN interleukin 10 receptor, alpha precursor 155 Extracellular (Potential). integral to membrane|plasma membrane interleukin-10 receptor activity ovary(1) 1 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108) CCCCGCAAATGACACATATGA 0.527 NA 4 38 0.00024832 0.000405577 1 0 YARS2 51067 broad.mit.edu 37 12 32908286 32908286 + Missense_Mutation SNP C C A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr12:32908286C>A uc001rli.2 - 1 589 c.523G>T c.(523-525)GCC>TCC p.A175S NM_001040436 NP_001035526 Q9Y2Z4 SYYM_HUMAN tyrosyl-tRNA synthetase 2, mitochondrial 175 tyrosyl-tRNA aminoacylation mitochondrial matrix ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity 0 Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) L-Tyrosine(DB00135) TGGTACCAGGCCGAGTTGTCC 0.657 NA OREG0021729 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 22 0.000566183 0.000920482 1 0 DDN 23109 broad.mit.edu 37 12 49392252 49392252 + Missense_Mutation SNP C C G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr12:49392252C>G uc001rsv.1 - 2 425 c.407G>C c.(406-408)CGA>CCA p.R136P uc001rsw.2_5'UTR NM_015086 NP_055901 O94850 DEND_HUMAN dendrin 136 dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon large_intestine(1) 1 GGGGCTCCGTCGGGCCCCACC 0.741 NA 6 13 0 0 0 0 SLC4A8 9498 broad.mit.edu 37 12 51851325 51851325 + Splice_Site SNP T T C TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr12:51851325T>C uc001rys.1 + 6 941 c.763_splice c.e6+2 p.G255_splice SLC4A8_uc010sni.1_Splice_Site_p.G202_splice|SLC4A8_uc001rym.2_Splice_Site_p.G202_splice|SLC4A8_uc001ryn.2_Splice_Site_p.G202_splice|SLC4A8_uc001ryo.2_Splice_Site_p.G202_splice|SLC4A8_uc001ryp.1_Splice_Site_p.G202_splice|SLC4A8_uc010snj.1_Splice_Site_p.G282_splice|SLC4A8_uc001ryq.3_Splice_Site_p.G255_splice|SLC4A8_uc001ryr.2_Splice_Site_p.G255_splice|SLC4A8_uc010snk.1_Splice_Site_p.G202_splice NM_001039960 NP_001035049 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity ovary(3)|pancreas(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.15) ATAAACATGGTAAGATTATTA 0.388 NA 17 33 0 0 0 0 SCN8A 6334 broad.mit.edu 37 12 52201213 52201213 + Nonstop_Mutation SNP G G C TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr12:52201213G>C uc001ryw.2 + 27 6121 c.5943G>C c.(5941-5943)TAG>TAC p.*1981Y uc001rzb.1_5'Flank NM_014191 NP_055006 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha 1981 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity ovary(7) 7 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) CCAAGTGTTAGAGGAGAACAA 0.393 NA 2 4 0 0 0 0 GLI1 2735 broad.mit.edu 37 12 57863427 57863427 + Missense_Mutation SNP C C G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr12:57863427C>G uc001snx.2 + 11 1600 c.1522C>G c.(1522-1524)CAA>GAA p.Q508E GLI1_uc009zpq.2_Missense_Mutation_p.Q380E NM_005269 NP_005260 P08151 GLI1_HUMAN GLI family zinc finger 1 isoform 1 508 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1) 15 GBM - Glioblastoma multiforme(3;3.99e-32) CCAGCTACATCAACTCCGGCC 0.607 NA 10 60 0 0 0 0 SYT1 6857 broad.mit.edu 37 12 79689943 79689943 + Missense_Mutation SNP A A T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr12:79689943A>T uc001sys.2 + 8 1240 c.569A>T c.(568-570)AAG>ATG p.K190M SYT1_uc001syt.2_Missense_Mutation_p.K190M|SYT1_uc001syu.2_Missense_Mutation_p.K187M|SYT1_uc001syv.2_Missense_Mutation_p.K190M NM_001135805 NP_001129277 P21579 SYT1_HUMAN synaptotagmin I 190 Cytoplasmic (Potential).|Phospholipid binding (Probable).|C2 1. detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane 1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity skin(3)|pancreas(2)|ovary(1) 6 CTACCTGATAAGAAGAAGAAA 0.418 NA 20 42 0 0 0 0 PAWR 5074 broad.mit.edu 37 12 79988212 79988212 + Missense_Mutation SNP T T A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr12:79988212T>A uc001syx.2 - 6 1119 c.833A>T c.(832-834)GAA>GTA p.E278V NM_002583 NP_002574 Q96IZ0 PAWR_HUMAN PRKC, apoptosis, WT1, regulator 278 actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity 0 TCTTACTACTTCCTGGTAGAT 0.294 NA 8 16 0 0 0 0 ACSS3 79611 broad.mit.edu 37 12 81503457 81503457 + Missense_Mutation SNP T T A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr12:81503457T>A uc001szl.1 + 2 521 c.430T>A c.(430-432)TTT>ATT p.F144I ACSS3_uc001szm.1_Missense_Mutation_p.F143I NM_024560 NP_078836 Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 144 mitochondrion acetate-CoA ligase activity|ATP binding ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 TAAAGCAACCTTTACCTATAA 0.299 NA 7 25 0 0 0 0 EEA1 8411 broad.mit.edu 37 12 93213152 93213152 + Missense_Mutation SNP G G C TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr12:93213152G>C uc001tck.2 - 14 1925 c.1660C>G c.(1660-1662)CAG>GAG p.Q554E NM_003566 NP_003557 Q15075 EEA1_HUMAN early endosome antigen 1, 162kD 554 Gln/Glu/Lys-rich.|Potential. early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction 1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding ovary(2)|skin(1) 3 TCACCAGCCTGAATTTTTGCA 0.313 NA 6 30 0 0 0 0 ANO4 121601 broad.mit.edu 37 12 101510564 101510564 + Missense_Mutation SNP T T C TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr12:101510564T>C uc010svm.1 + 25 3130 c.2558T>C c.(2557-2559)CTT>CCT p.L853P ANO4_uc001thw.2_Missense_Mutation_p.L818P|ANO4_uc001thx.2_Missense_Mutation_p.L853P|ANO4_uc001thy.2_Missense_Mutation_p.L373P NM_178826 NP_849148 Q32M45 ANO4_HUMAN anoctamin 4 853 Cytoplasmic (Potential). chloride channel complex chloride channel activity ovary(4)|skin(2) 6 GGGACTCCTCTTAAGTACTGC 0.542 NA HNSCC(74;0.22) 4 81 0 0 0 0 UTP20 27340 broad.mit.edu 37 12 101779782 101779782 + Missense_Mutation SNP A A G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr12:101779782A>G uc001tia.1 + 62 8395 c.8239A>G c.(8239-8241)ATG>GTG p.M2747V NM_014503 NP_055318 O75691 UTP20_HUMAN down-regulated in metastasis 2747 Nuclear localization signal.|Potential.|Nucleolar localization signal. endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding ovary(2)|breast(2) 4 CAAGAAAAAAATGAAGAAACA 0.308 NA 23 51 0 0 0 0 MYBPC1 4604 broad.mit.edu 37 12 102036248 102036248 + Silent SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr12:102036248G>A uc001tii.2 + 9 744 c.642G>A c.(640-642)CTG>CTA p.L214L MYBPC1_uc001tif.1_Silent_p.L227L|MYBPC1_uc001tig.2_Silent_p.L239L|MYBPC1_uc010svq.1_Silent_p.L201L|MYBPC1_uc001tih.2_Silent_p.L239L|MYBPC1_uc001tij.2_Silent_p.L214L|MYBPC1_uc010svr.1_Silent_p.L214L|MYBPC1_uc010svs.1_Silent_p.L214L|MYBPC1_uc010svt.1_Silent_p.L202L|MYBPC1_uc010svu.1_Silent_p.L195L|MYBPC1_uc001tik.2_Silent_p.L188L NM_206820 NP_996556 Q00872 MYPC1_HUMAN myosin binding protein C, slow type isoform 3 214 cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding ovary(2)|liver(1)|skin(1) 4 GGGAGTTGCTGAAGAACGCGA 0.562 NA 15 43 0 0 0 0 ATP2A2 488 broad.mit.edu 37 12 110764234 110764234 + Missense_Mutation SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr12:110764234C>T uc001tqk.3 + 7 1147 c.584C>T c.(583-585)CCT>CTT p.P195L ATP2A2_uc001tql.3_Missense_Mutation_p.P195L|ATP2A2_uc010sxy.1_Missense_Mutation_p.P168L NM_170665 NP_733765 P16615 AT2A2_HUMAN ATPase, Ca++ transporting, slow twitch 2 isoform 195 Cytoplasmic (By similarity). ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding ovary(3)|skin(1) 4 GATCCCGTCCCTGACCCACGA 0.423 NA 4 25 0 0 0 0 SBNO1 55206 broad.mit.edu 37 12 123780467 123780467 + Missense_Mutation SNP C C G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr12:123780467C>G uc010tap.1 - 31 4170 c.4170G>C c.(4168-4170)TTG>TTC p.L1390F SBNO1_uc009zxv.2_RNA|SBNO1_uc010tao.1_Missense_Mutation_p.L1389F|SBNO1_uc010taq.1_Missense_Mutation_p.L341F NM_018183 NP_060653 A3KN83 SBNO1_HUMAN sno, strawberry notch homolog 1 1390 ATP binding|DNA binding|hydrolase activity breast(5)|skin(2)|ovary(1)|kidney(1) 9 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) ATGCGTTGCTCAAGTTGGTGA 0.428 NA 8 257 0 0 0 0 GJB2 2706 broad.mit.edu 37 13 20763385 20763385 + Silent SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr13:20763385C>T uc001umy.2 - 2 551 c.336G>A c.(334-336)AAG>AAA p.K112K NM_004004 NP_003995 P29033 CXB2_HUMAN gap junction protein beta 2 112 Cytoplasmic (Potential). K -> N (in Ref. 4; AAY25170). cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport connexon complex|ER-Golgi intermediate compartment|integral to membrane 0 all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822) all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738) TAAATTCACTCTTTATCTCCC 0.532 NA Keratitis_Ichthyosis_and_Deafness_syndrome OREG0022282 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 57 0 0 0 0 FRY 10129 broad.mit.edu 37 13 32869543 32869543 + Nonsense_Mutation SNP C C A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr13:32869543C>A uc001utx.2 + 61 9484 c.8988C>A c.(8986-8988)TAC>TAA p.Y2996* FRY_uc010tdw.1_RNA|FRY_uc001utz.2_Nonsense_Mutation_p.Y527*|FRY_uc010tdx.1_Nonsense_Mutation_p.Y366* NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 2996 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) CCCAGAGTTACCGAGTCCTCA 0.567 NA 20 46 1.26e-06 2.11e-06 1 0 BRCA2 675 broad.mit.edu 37 13 32950881 32950881 + Missense_Mutation SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr13:32950881G>A uc001uub.1 + 21 8934 c.8707G>A c.(8707-8709)GAG>AAG p.E2903K NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 2903 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) AGATGGTGCAGAGCTTTATGA 0.388 NA D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) 5 26 0 0 0 0 DIAPH3 81624 broad.mit.edu 37 13 60544172 60544172 + Silent SNP A A T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr13:60544172A>T uc001vht.2 - 17 2199 c.1980T>A c.(1978-1980)ACT>ACA p.T660T DIAPH3_uc001vhu.2_Silent_p.T397T|DIAPH3_uc001vhv.2_Silent_p.T238T NM_001042517 NP_001035982 Q9NSV4 DIAP3_HUMAN diaphanous homolog 3 isoform a 660 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2) 2 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) AACAGTTTTCAGTCATTTCAT 0.353 NA 7 7 0 0 0 0 TDRD3 81550 broad.mit.edu 37 13 61068665 61068665 + Missense_Mutation SNP T T G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr13:61068665T>G uc001via.2 + 8 1323 c.535T>G c.(535-537)TCA>GCA p.S179A TDRD3_uc010aef.2_5'UTR|TDRD3_uc001vhz.3_Missense_Mutation_p.S179A|TDRD3_uc010aeg.2_Missense_Mutation_p.S272A|TDRD3_uc001vib.3_Missense_Mutation_p.S178A NM_030794 NP_110421 Q9H7E2 TDRD3_HUMAN tudor domain containing 3 isoform 2 179 chromatin modification cytoplasm|nucleus chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity upper_aerodigestive_tract(1)|skin(1) 2 Prostate(109;0.173)|Breast(118;0.174) GBM - Glioblastoma multiforme(99;0.000291) GAAAGAAAAGTCAACCAAATC 0.363 NA 6 36 0 0 0 0 DACH1 1602 broad.mit.edu 37 13 72063278 72063278 + Missense_Mutation SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr13:72063278C>T uc010thn.1 - 8 1996 c.1573G>A c.(1573-1575)GAG>AAG p.E525K DACH1_uc010tho.1_Missense_Mutation_p.E377K|DACH1_uc010thp.1_Missense_Mutation_p.E323K NM_080759 NP_542937 Q9UI36 DACH1_HUMAN dachshund homolog 1 isoform a 577 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding breast(1) 1 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) AGCGGGGTCTCATCTGCATGT 0.428 NA 26 109 0 0 0 0 TBC1D4 9882 broad.mit.edu 37 13 75873593 75873593 + Missense_Mutation SNP C C A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr13:75873593C>A uc001vjl.1 - 17 3376 c.3029G>T c.(3028-3030)GGG>GTG p.G1010V TBC1D4_uc010tht.1_Missense_Mutation_p.G220V|TBC1D4_uc010thu.1_Missense_Mutation_p.G167V|TBC1D4_uc010aer.2_Missense_Mutation_p.G1002V|TBC1D4_uc010aes.2_Missense_Mutation_p.G947V NM_014832 NP_055647 O60343 TBCD4_HUMAN TBC1 domain family, member 4 1010 Rab-GAP TBC. cytoplasm Rab GTPase activator activity ovary(4)|central_nervous_system(1)|skin(1) 6 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) AAAGCTGATCCCCTGACAGTA 0.493 NA 19 30 5.35e-11 9.07e-11 1 0 NALCN 259232 broad.mit.edu 37 13 101890129 101890129 + Missense_Mutation SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr13:101890129G>A uc001vox.1 - 12 1600 c.1411C>T c.(1411-1413)CAT>TAT p.H471Y NALCN_uc001voy.2_Missense_Mutation_p.H186Y|NALCN_uc001voz.2_Missense_Mutation_p.H471Y|NALCN_uc001vpa.2_Missense_Mutation_p.H471Y NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 471 Extracellular (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AATTGTGAATGATAAAGATCT 0.308 NA 39 130 0 0 0 0 TUBGCP3 10426 broad.mit.edu 37 13 113223541 113223541 + Missense_Mutation SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr13:113223541G>A uc001vse.1 - 2 296 c.109C>T c.(109-111)CGG>TGG p.R37W TUBGCP3_uc010tjq.1_Missense_Mutation_p.R37W|TUBGCP3_uc001vsf.2_Missense_Mutation_p.R37W|TUBGCP3_uc001vsg.1_Missense_Mutation_p.R37W NM_006322 NP_006313 Q96CW5 GCP3_HUMAN tubulin, gamma complex associated protein 3 37 G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization centriole|cytosol|polar microtubule gamma-tubulin binding|structural constituent of cytoskeleton central_nervous_system(1) 1 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) CCAATCACCCGCACAGCATAC 0.433 NA 15 42 0 0 0 0 OR4Q3 441669 broad.mit.edu 37 14 20216405 20216405 + Silent SNP C C A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr14:20216405C>A uc010tkt.1 + 1 819 c.819C>A c.(817-819)TCC>TCA p.S273S NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, 273 Helical; Name=7; (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) AGATATTCTCCTTGTTTTACA 0.433 NA 20 157 7.42e-09 1.25e-08 1 0 MYH7 4625 broad.mit.edu 37 14 23884302 23884302 + Missense_Mutation SNP C C G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr14:23884302C>G uc001wjx.2 - 37 5567 c.5461G>C c.(5461-5463)GAG>CAG p.E1821Q NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1821 Potential. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TTCTCCAGCTCCCGCACCCGC 0.627 NA 16 109 0 0 0 0 KIAA0391 9692 broad.mit.edu 37 14 35593231 35593231 + Silent SNP A A C TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr14:35593231A>C uc001wsy.1 + 2 1140 c.780A>C c.(778-780)GTA>GTC p.V260V KIAA0391_uc010tps.1_Silent_p.V165V|KIAA0391_uc001wsz.1_Silent_p.V260V|KIAA0391_uc001wta.2_RNA|KIAA0391_uc001wtb.1_Silent_p.V260V|KIAA0391_uc001wtc.1_Intron|PPP2R3C_uc001wss.2_5'Flank|PPP2R3C_uc001wst.2_5'Flank|PPP2R3C_uc010tpr.1_5'Flank|PPP2R3C_uc001wsu.2_5'Flank|PPP2R3C_uc010amn.1_5'Flank|PPP2R3C_uc001wsw.2_5'Flank|PPP2R3C_uc001wsx.1_5'Flank NM_014672 NP_055487 O15091 MRRP3_HUMAN mitochondrial RNase P protein 3 precursor 260 tRNA processing mitochondrion 0 Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184) Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277) GBM - Glioblastoma multiforme(112;0.0593) ATCAAGATGTAAACACAGCTT 0.343 NA 9 20 0 0 0 0 MDGA2 161357 broad.mit.edu 37 14 47504427 47504427 + Missense_Mutation SNP C C G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr14:47504427C>G uc001wwj.3 - 8 1595 c.1399G>C c.(1399-1401)GTA>CTA p.V467L MDGA2_uc001wwi.3_Missense_Mutation_p.V238L|MDGA2_uc010ani.2_Missense_Mutation_p.V27L NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 467 Ig-like 5. spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 TTGCCAGTTACTTGACATTGC 0.413 NA 32 75 0 0 0 0 KCNH5 27133 broad.mit.edu 37 14 63175134 63175134 + Missense_Mutation SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr14:63175134C>T uc001xfx.2 - 11 2110 c.2059G>A c.(2059-2061)GAG>AAG p.E687K KCNH5_uc001xfy.2_3'UTR NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, 687 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity ovary(4)|skin(4)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) AGGCGCTCCTCCTCCTCTTTC 0.493 NA 16 68 0 0 0 0 EXD2 55218 broad.mit.edu 37 14 69701456 69701456 + Missense_Mutation SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr14:69701456C>T uc001xkt.2 + 7 1041 c.382C>T c.(382-384)CTC>TTC p.L128F EXD2_uc001xku.2_Intron|EXD2_uc001xkv.2_Missense_Mutation_p.L253F|EXD2_uc001xkw.2_Missense_Mutation_p.L128F|EXD2_uc010aqt.2_Missense_Mutation_p.L253F|EXD2_uc010tte.1_Missense_Mutation_p.L253F|EXD2_uc001xky.2_Missense_Mutation_p.L128F NM_018199 NP_060669 Q9NVH0 EXD2_HUMAN exonuclease 3'-5' domain containing 2 128 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding 0 TTCAGTGGCTCTCTTTCTTCA 0.433 NA 9 26 0 0 0 0 C14orf169 79697 broad.mit.edu 37 14 73959074 73959074 + Silent SNP G G C TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr14:73959074G>C uc001xok.1 + 3 1432 c.1353G>C c.(1351-1353)CGG>CGC p.R451R HEATR4_uc010tua.1_Intron NM_024644 NP_078920 Q9H6W3 NO66_HUMAN chromosome 14 open reading frame 169 451 negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|nucleoplasm histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K4 specific)|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.215) TGGAGTTTCGGAGGGGTCTGC 0.547 NA 13 45 0 0 0 0 SEL1L 6400 broad.mit.edu 37 14 81972553 81972553 + Missense_Mutation SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr14:81972553C>T uc010tvv.1 - 4 490 c.373G>A c.(373-375)GAG>AAG p.E125K SEL1L_uc001xvo.3_Missense_Mutation_p.E125K NM_005065 NP_005056 Q9UBV2 SE1L1_HUMAN sel-1 suppressor of lin-12-like precursor 125 Lumenal (Potential).|Interaction with ERLEC1, OS9 and SYVN1.|Fibronectin type-II. Notch signaling pathway endoplasmic reticulum membrane|integral to membrane protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.0299) TGGCAGGGCTCCCCATGTGCT 0.438 NA 12 39 0 0 0 0 SLC24A4 123041 broad.mit.edu 37 14 92959967 92959967 + Missense_Mutation SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr14:92959967G>A uc001yak.2 + 17 1837 c.1813G>A c.(1813-1815)GAT>AAT p.D605N SLC24A4_uc001yai.2_Missense_Mutation_p.D558N|SLC24A4_uc010twm.1_Missense_Mutation_p.D603N|SLC24A4_uc001yaj.2_Missense_Mutation_p.D586N|SLC24A4_uc010auj.2_3'UTR|SLC24A4_uc010twn.1_Missense_Mutation_p.D378N|SLC24A4_uc001yan.2_Missense_Mutation_p.D316N NM_153646 NP_705932 Q8NFF2 NCKX4_HUMAN solute carrier family 24 member 4 isoform 1 622 Extracellular (Potential). integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(2)|ovary(1) 3 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) CCGGGAAGACGATTAGCGCTG 0.547 NA 4 20 0 0 0 0 FAM181A 90050 broad.mit.edu 37 14 94395169 94395169 + Missense_Mutation SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr14:94395169G>A uc001ybz.1 + 3 1031 c.724G>A c.(724-726)GAG>AAG p.E242K C14orf86_uc001yby.2_5'Flank|FAM181A_uc010aus.1_Missense_Mutation_p.E180K|FAM181A_uc001yca.1_Missense_Mutation_p.E180K NM_138344 NP_612353 Q8N9Y4 F181A_HUMAN hypothetical protein LOC90050 242 0 CCTGGGACCTGAGACTACCCT 0.622 NA 4 33 0 0 0 0 DDX24 57062 broad.mit.edu 37 14 94521392 94521392 + Missense_Mutation SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr14:94521392C>T uc001ycj.2 - 7 2227 c.2128G>A c.(2128-2130)GAG>AAG p.E710K DDX24_uc010twq.1_Missense_Mutation_p.E667K|DDX24_uc010twr.1_Missense_Mutation_p.E460K NM_020414 NP_065147 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 24 710 Helicase C-terminal. RNA metabolic process cytoplasm|nucleolus|nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding ovary(2)|kidney(1)|skin(1) 4 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) GGGATATCCTCATCTTTCTTG 0.463 NA 32 149 0 0 0 0 IFI27L1 122509 broad.mit.edu 37 14 94567115 94567115 + Missense_Mutation SNP G G C TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr14:94567115G>C uc001ycl.2 + 3 267 c.59G>C c.(58-60)GGA>GCA p.G20A IFI27L1_uc001yck.2_Missense_Mutation_p.G20A NM_206949 NP_996832 Q96BM0 I27L1_HUMAN interferon, alpha-inducible protein 27-like 1 20 Helical; (Potential). integral to membrane 0 GTGGTCGGAGGAGGTGAGTCT 0.507 NA 14 62 0 0 0 0 ATG2B 55102 broad.mit.edu 37 14 96757161 96757161 + Silent SNP T T C TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr14:96757161T>C uc001yfi.2 - 39 6056 c.5691A>G c.(5689-5691)CTA>CTG p.L1897L NM_018036 NP_060506 Q96BY7 ATG2B_HUMAN ATG2 autophagy related 2 homolog B 1897 ovary(1)|kidney(1)|skin(1) 3 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) CTAATTGTACTAGTGAATGCA 0.284 NA 26 66 0 0 0 0 AKT1 207 broad.mit.edu 37 14 105246455 105246455 + Missense_Mutation SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr14:105246455C>T uc001ypk.2 - 3 699 c.145G>A c.(145-147)GAG>AAG p.E49K INF2_uc010tyi.1_Intron|AKT1_uc001ypl.2_Missense_Mutation_p.E49K|AKT1_uc010axa.2_Missense_Mutation_p.E49K|AKT1_uc001ypm.2_Missense_Mutation_p.E49K|AKT1_uc001ypn.2_Missense_Mutation_p.E49K|AKT1_uc010tyk.1_5'Flank NM_005163 NP_005154 P31749 AKT1_HUMAN AKT1 kinase 49 PH. activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation cytosol|nucleoplasm|plasma membrane enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity p.E49K(1) breast(86)|urinary_tract(12)|thyroid(10)|lung(7)|endometrium(5)|large_intestine(4)|skin(4)|prostate(3)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|NS(1) 134 all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155) all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116) all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243) Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169) AGGGGAGCCTCACGTTGGTCC 0.587 1 Mis breast|colorectal|ovarian|NSCLC 11 13 0 0 0 0 ATP10A 57194 broad.mit.edu 37 15 25963462 25963462 + Missense_Mutation SNP C C A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr15:25963462C>A uc010ayu.2 - 8 1554 c.1448G>T c.(1447-1449)AGC>ATC p.S483I NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 483 Cytoplasmic (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) GCTGCCGATGCTGCCGCGCTG 0.711 NA 11 8 6.4e-05 0.000105201 1 0 MYO5A 4644 broad.mit.edu 37 15 52656782 52656782 + Missense_Mutation SNP T T A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr15:52656782T>A uc002aby.2 - 24 3522 c.3278A>T c.(3277-3279)GAT>GTT p.D1093V MYO5A_uc002abx.3_Missense_Mutation_p.D1093V NM_000259 NP_000250 Q9Y4I1 MYO5A_HUMAN myosin VA isoform 1 1093 Potential. actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|central_nervous_system(1) 4 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) CTTGAGGTCATCATATCTTTC 0.284 NA 25 54 0 0 0 0 TLN2 83660 broad.mit.edu 37 15 63128147 63128147 + Missense_Mutation SNP C C G rs140723056 by1000genomes TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr15:63128147C>G uc002alb.3 + 54 7249 c.7249C>G c.(7249-7251)CAG>GAG p.Q2417E TLN2_uc002alc.3_Missense_Mutation_p.Q810E|TLN2_uc010uic.1_Missense_Mutation_p.Q18E|uc002ale.1_5'Flank NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN talin 2 2417 I/LWEQ. cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2) 11 TGCCTCCGTTCAGGGACACGC 0.647 NA 5 37 0 0 0 0 CALML4 91860 broad.mit.edu 37 15 68489825 68489825 + Missense_Mutation SNP A A T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr15:68489825A>T uc002arb.2 - 4 1180 c.446T>A c.(445-447)CTG>CAG p.L149Q CALML4_uc002arc.2_Missense_Mutation_p.L102Q|CALML4_uc002ard.2_RNA|CALML4_uc002are.2_RNA|CALML4_uc010bhz.2_Intron NM_033429 NP_219501 Q96GE6 CALL4_HUMAN calmodulin-like 4 isoform 1 149 EF-hand 3. calcium ion binding 0 TTTTGACCGCAGGTCGGACGC 0.498 NA 21 71 0 0 0 0 ERCC4 2072 broad.mit.edu 37 16 14020442 14020442 + Missense_Mutation SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr16:14020442G>A uc002dce.2 + 3 422 c.413G>A c.(412-414)AGA>AAA p.R138K ERCC4_uc010bva.2_Missense_Mutation_p.R138K NM_005236 NP_005227 Q92889 XPF_HUMAN excision repair cross-complementing rodent 138 double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity lung(4)|ovary(3)|skin(2)|pancreas(1) 10 AGAGCCCACAGAATAATCGAG 0.353 NA Mis|N|F skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 6 98 0 0 0 0 C16orf46 123775 broad.mit.edu 37 16 81087678 81087678 + Nonstop_Mutation SNP A A G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr16:81087678A>G uc010chf.2 - 4 1335 c.1165T>C c.(1165-1167)TAG>CAG p.*389Q NM_001100873 NP_001094343 Q6P387 CP046_HUMAN chromosome 16 open reading frame 46 isoform 1 389 0 TCCCTCTCCTACTTTATCTTC 0.408 NA 16 38 0 0 0 0 MBTPS1 8720 broad.mit.edu 37 16 84108251 84108251 + Missense_Mutation SNP T T A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr16:84108251T>A uc002fhi.2 - 12 2046 c.1544A>T c.(1543-1545)AAT>ATT p.N515I MBTPS1_uc002fhh.2_Missense_Mutation_p.N19I NM_003791 NP_003782 Q14703 MBTP1_HUMAN membrane-bound transcription factor site-1 515 Lumenal (Potential). cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity ovary(2) 2 GATGGTGACATTAACAACTGT 0.478 NA 16 27 0 0 0 0 JPH3 57338 broad.mit.edu 37 16 87678544 87678544 + Missense_Mutation SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr16:87678544C>T uc002fkd.2 + 2 1317 c.1063C>T c.(1063-1065)CGG>TGG p.R355W JPH3_uc010vou.1_RNA NM_020655 NP_065706 Q8WXH2 JPH3_HUMAN junctophilin 3 355 Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane protein binding ovary(1)|pancreas(1) 2 BRCA - Breast invasive adenocarcinoma(80;0.0287) CATCCCCCTGCGGGCCAGCAA 0.652 NA 10 24 0 0 0 0 ZC3H18 124245 broad.mit.edu 37 16 88664701 88664701 + Silent SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr16:88664701C>T uc002fky.2 + 4 1004 c.804C>T c.(802-804)CTC>CTT p.L268L ZC3H18_uc010voy.1_Silent_p.L151L|ZC3H18_uc010voz.1_Silent_p.L292L NM_144604 NP_653205 Q86VM9 ZCH18_HUMAN zinc finger CCCH-type containing 18 268 Pro-rich. nucleus nucleic acid binding|zinc ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0542) CCCCGCCTCTCGGACCTCACC 0.537 NA 6 62 0 0 0 0 RPA1 6117 broad.mit.edu 37 17 1783840 1783840 + Missense_Mutation SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr17:1783840G>A uc002fto.2 + 12 1211 c.1096G>A c.(1096-1098)GAT>AAT p.D366N NM_002945 NP_002936 P27694 RFA1_HUMAN replication protein A1 366 cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body metal ion binding|protein binding|single-stranded DNA binding 0 TTTACAGGCTGATAAATTTGA 0.428 NA NER 16 33 0 0 0 0 NEURL4 84461 broad.mit.edu 37 17 7230539 7230539 + Silent SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr17:7230539C>T uc002gga.1 - 3 745 c.738G>A c.(736-738)GTG>GTA p.V246V NEURL4_uc002ggb.1_Silent_p.V246V|NEURL4_uc002ggc.1_5'Flank NM_032442 NP_115818 Q96JN8 NEUL4_HUMAN neuralized homolog 4 isoform 1 246 protein binding upper_aerodigestive_tract(1)|ovary(1) 2 GCGCTGGGGACACCATGAAGG 0.627 NA 8 16 0 0 0 0 POLR2A 5430 broad.mit.edu 37 17 7399540 7399540 + Missense_Mutation SNP G G C TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr17:7399540G>C uc002ghf.3 + 3 472 c.238G>C c.(238-240)GAG>CAG p.E80Q POLR2A_uc002ghe.2_Missense_Mutation_p.E80Q NM_000937 NP_000928 P24928 RPB1_HUMAN DNA-directed RNA polymerase II A 80 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding pancreas(1) 1 Prostate(122;0.173) AAACATGACAGAGTGTCCTGG 0.537 NA 6 48 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578413 7578413 + Missense_Mutation SNP C C A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr17:7578413C>A uc002gim.2 - 5 711 c.517G>T c.(517-519)GTG>TTG p.V173L TP53_uc002gig.1_Missense_Mutation_p.V173L|TP53_uc002gih.2_Missense_Mutation_p.V173L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V41L|TP53_uc010cng.1_Missense_Mutation_p.V41L|TP53_uc002gii.1_Missense_Mutation_p.V41L|TP53_uc010cnh.1_Missense_Mutation_p.V173L|TP53_uc010cni.1_Missense_Mutation_p.V173L|TP53_uc002gij.2_Missense_Mutation_p.V173L|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.V80L|TP53_uc002gio.2_Missense_Mutation_p.V41L|TP53_uc010vug.1_Missense_Mutation_p.V134L NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 173 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> A (in sporadic cancers; somatic mutation).|V -> L (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.V173L(54)|p.V173M(40)|p.V173A(8)|p.V173V(8)|p.0?(7)|p.V173G(6)|p.V173fs*1(4)|p.V80L(2)|p.V173fs*59(2)|p.V41L(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.V173E(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.V80M(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)|p.V41M(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) CAGCGCCTCACAACCTCCGTC 0.662 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 31 22 9.65e-13 1.66e-12 1 0 DNAH2 146754 broad.mit.edu 37 17 7637808 7637808 + Missense_Mutation SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr17:7637808C>T uc002giu.1 + 6 774 c.760C>T c.(760-762)CGG>TGG p.R254W DNAH2_uc002git.2_Missense_Mutation_p.R254W|DNAH2_uc010vuk.1_Missense_Mutation_p.R254W NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 254 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) CCACTGGACCCGGCAGATAAA 0.537 NA 9 38 0 0 0 0 KDM6B 23135 broad.mit.edu 37 17 7752018 7752018 + Silent SNP C C G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr17:7752018C>G uc002giw.1 + 11 2788 c.2412C>G c.(2410-2412)CTC>CTG p.L804L KDM6B_uc002gix.2_Silent_p.L106L NM_001080424 NP_001073893 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 804 Pro-rich. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|pancreas(1) 2 CCAGCCTGCTCAAATCCTTGG 0.363 NA 6 52 0 0 0 0 CHD3 1107 broad.mit.edu 37 17 7794330 7794330 + Missense_Mutation SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr17:7794330G>A uc002gje.2 + 4 607 c.457G>A c.(457-459)GAG>AAG p.E153K CHD3_uc002gjd.2_Missense_Mutation_p.E212K|CHD3_uc002gjf.2_Missense_Mutation_p.E153K|CHD3_uc002gjg.1_5'UTR NM_001005273 NP_001005273 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 153 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(1) 1 Prostate(122;0.202) TGTGTTCTCTGAGGAGGATTA 0.512 NA 28 70 0 0 0 0 MYH8 4626 broad.mit.edu 37 17 10309390 10309390 + Missense_Mutation SNP C C G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr17:10309390C>G uc002gmm.2 - 21 2495 c.2400G>C c.(2398-2400)ATG>ATC p.M800I uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 800 IQ. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 ATTCTACCCTCATTAGGAATC 0.373 NA Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 8 66 0 0 0 0 DNAH9 1770 broad.mit.edu 37 17 11607549 11607549 + Nonsense_Mutation SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr17:11607549G>A uc002gne.2 + 25 5249 c.5181G>A c.(5179-5181)TGG>TGA p.W1727* DNAH9_uc010coo.2_Nonsense_Mutation_p.W1021* NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 1727 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AGATCTGGTGGACAACAGAAG 0.507 NA 5 112 0 0 0 0 PRPSAP2 5636 broad.mit.edu 37 17 18775924 18775924 + Silent SNP G G T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr17:18775924G>T uc002gup.1 + 5 412 c.201G>T c.(199-201)GTG>GTT p.V67V PRPSAP2_uc002guo.1_5'UTR|PRPSAP2_uc010vyi.1_Intron|PRPSAP2_uc010vyj.1_5'UTR|PRPSAP2_uc010vyk.1_Silent_p.V55V NM_002767 NP_002758 O60256 KPRB_HUMAN phosphoribosyl pyrophosphate 67 nucleotide biosynthetic process enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity skin(1) 1 AAGAGTCTGTGAGGGGAAAAG 0.348 NA 41 168 1.57e-19 2.72e-19 1 0 KIAA0100 9703 broad.mit.edu 37 17 26965108 26965108 + Missense_Mutation SNP C C G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr17:26965108C>G uc002hbu.2 - 14 1616 c.1517G>C c.(1516-1518)AGC>ACC p.S506T NM_014680 NP_055495 Q14667 K0100_HUMAN hypothetical protein LOC9703 precursor 506 extracellular region ovary(2)|breast(1)|skin(1) 4 Lung NSC(42;0.00431) CTGGTTATAGCTACCCTAGAG 0.498 NA 12 54 0 0 0 0 KRT27 342574 broad.mit.edu 37 17 38938473 38938473 + Silent SNP G G C TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr17:38938473G>C uc002hvg.2 - 1 314 c.273C>G c.(271-273)CTC>CTG p.L91L NM_181537 NP_853515 Q7Z3Y8 K1C27_HUMAN keratin 27 91 Rod.|Coil 1A. cytoplasm|intermediate filament structural molecule activity 0 Breast(137;0.000812) AGCGGTCGTTGAGGTTCTGCA 0.572 NA 33 63 0 0 0 0 DHX8 1659 broad.mit.edu 37 17 41585799 41585799 + Missense_Mutation SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr17:41585799C>T uc002idu.1 + 16 2486 c.2413C>T c.(2413-2415)CCA>TCA p.P805S DHX8_uc010wif.1_Missense_Mutation_p.P714S|DHX8_uc010wig.1_Missense_Mutation_p.P805S NM_004941 NP_004932 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 805 Helicase C-terminal. catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding ovary(2)|kidney(1)|pancreas(1) 4 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) ACCTGATGTTCCAGAGTTAAT 0.488 NA 13 61 0 0 0 0 ARHGAP27 201176 broad.mit.edu 37 17 43480174 43480174 + Missense_Mutation SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr17:43480174G>A uc002iix.2 - 9 1075 c.626C>T c.(625-627)TCC>TTC p.S209F ARHGAP27_uc010dak.2_Missense_Mutation_p.S182F|ARHGAP27_uc010wjl.1_Missense_Mutation_p.S328F NM_199282 NP_954976 Q6ZUM4 RHG27_HUMAN Rho GTPase activating protein 27 isoform a 550 PH. positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction cytoplasm|membrane Rac GTPase activator activity|SH3 domain binding 0 Renal(3;0.0405) GGAAAACTTGGAAGGCTGCCT 0.572 NA 19 38 0 0 0 0 ABCA8 10351 broad.mit.edu 37 17 66890418 66890418 + Missense_Mutation SNP T T C TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr17:66890418T>C uc002jhp.2 - 21 2991 c.2812A>G c.(2812-2814)AGA>GGA p.R938G ABCA8_uc002jhq.2_Missense_Mutation_p.R978G|ABCA8_uc010wqq.1_Missense_Mutation_p.R978G|ABCA8_uc010wqr.1_Missense_Mutation_p.R917G|ABCA8_uc002jhr.2_Missense_Mutation_p.R978G NM_007168 NP_009099 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A member 8 938 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 Breast(10;4.56e-13) CAATTCAATCTTTTGGCATTG 0.313 NA 7 14 0 0 0 0 NOL4 8715 broad.mit.edu 37 18 31523045 31523045 + Missense_Mutation SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr18:31523045C>T uc010dmi.2 - 9 1755 c.1526G>A c.(1525-1527)CGT>CAT p.R509H NOL4_uc010xbs.1_Missense_Mutation_p.R224H|NOL4_uc002kxr.3_Missense_Mutation_p.R281H|NOL4_uc010xbt.1_Missense_Mutation_p.R435H|NOL4_uc010dmh.2_Missense_Mutation_p.R371H|NOL4_uc010xbu.1_Missense_Mutation_p.R445H|NOL4_uc002kxt.3_Intron|NOL4_uc010xbv.1_Missense_Mutation_p.R194H NM_003787 NP_003778 O94818 NOL4_HUMAN nucleolar protein 4 509 nucleolus RNA binding ovary(3) 3 TCTCTCCAGACGCATCCTCTT 0.443 NA 10 56 0 0 0 0 DTNA 1837 broad.mit.edu 37 18 32428280 32428280 + Missense_Mutation SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr18:32428280G>A uc010dmn.1 + 13 1287 c.1286G>A c.(1285-1287)CGG>CAG p.R429Q DTNA_uc010xbx.1_Intron|DTNA_uc002kxv.3_Missense_Mutation_p.R372Q|DTNA_uc002kxw.2_Missense_Mutation_p.R372Q|DTNA_uc010dmj.2_Missense_Mutation_p.R369Q|DTNA_uc002kxz.2_Missense_Mutation_p.R369Q|DTNA_uc002kxy.2_Missense_Mutation_p.R369Q|DTNA_uc010dml.2_Missense_Mutation_p.R369Q|DTNA_uc002kyb.3_Missense_Mutation_p.R426Q|DTNA_uc010dmm.2_Missense_Mutation_p.R429Q|DTNA_uc010xby.1_Missense_Mutation_p.R119Q|DTNA_uc010dmo.2_Missense_Mutation_p.R51Q|DTNA_uc002kyd.3_Missense_Mutation_p.R51Q|DTNA_uc010xbz.1_Missense_Mutation_p.R138Q|DTNA_uc010xca.1_Missense_Mutation_p.R81Q|DTNA_uc002kye.2_Missense_Mutation_p.R77Q NM_001390 NP_001381 Q9Y4J8 DTNA_HUMAN dystrobrevin alpha isoform 1 429 Syntrophin-binding region. neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding 0 AGTTCAAACCGGCTTGATGAA 0.448 NA 20 24 0 0 0 0 CDH19 28513 broad.mit.edu 37 18 64178908 64178908 + Silent SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr18:64178908G>A uc002lkc.1 - 10 1611 c.1473C>T c.(1471-1473)ATC>ATT p.I491I CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Intron NM_021153 NP_066976 Q9H159 CAD19_HUMAN cadherin 19, type 2 preproprotein 491 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 Esophageal squamous(42;0.0132) CCACTGCACTGATAGTCTGAA 0.318 NA 20 32 0 0 0 0 SHD 56961 broad.mit.edu 37 19 4282869 4282869 + Silent SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr19:4282869G>A uc002lzw.2 + 2 1763 c.300G>A c.(298-300)CTG>CTA p.L100L SHD_uc010dtu.2_Silent_p.L100L NM_020209 NP_064594 Q96IW2 SHD_HUMAN Src homology 2 domain containing transforming 100 0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18) CTCCGCAGCTGGAAGCCGACA 0.572 NA 32 54 0 0 0 0 CD320 51293 broad.mit.edu 37 19 8367860 8367860 + Silent SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr19:8367860G>A uc002mjj.1 - 4 572 c.507C>T c.(505-507)ACC>ACT p.T169T CD320_uc002mjk.1_RNA|CD320_uc002mjl.1_Silent_p.T127T NM_016579 NP_057663 Q9NPF0 CD320_HUMAN 8D6 antigen isoform 1 precursor 169 Extracellular (Potential). regulation of cell growth endoplasmic reticulum|integral to membrane growth factor activity 0 GGATCTCATTGGTTCCTGCAA 0.607 NA 4 15 0 0 0 0 ZNF266 10781 broad.mit.edu 37 19 9524534 9524534 + Missense_Mutation SNP T T G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr19:9524534T>G uc002mll.2 - 4 1333 c.1067A>C c.(1066-1068)GAT>GCT p.D356A ZNF266_uc002mlm.2_Missense_Mutation_p.D356A|ZNF266_uc002mln.2_Missense_Mutation_p.D356A|ZNF266_uc002mlo.2_Missense_Mutation_p.D356A|ZNF266_uc010dwp.2_Missense_Mutation_p.D356A|ZNF266_uc010dwq.2_Missense_Mutation_p.D356A NM_198058 NP_932175 Q14584 ZN266_HUMAN zinc finger protein 266 356 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TTTCCCACAATCCTTACATTT 0.413 NA 18 46 0 0 0 0 ZNF442 79973 broad.mit.edu 37 19 12461237 12461237 + Missense_Mutation SNP G G C TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr19:12461237G>C uc002mtr.1 - 6 1773 c.1162C>G c.(1162-1164)CAT>GAT p.H388D ZNF442_uc010xmk.1_Missense_Mutation_p.H319D NM_030824 NP_110451 Q9H7R0 ZN442_HUMAN zinc finger protein 442 388 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(2)|breast(1)|kidney(1) 4 CTTGAGTGATGAGATAACGCT 0.428 NA 9 168 0 0 0 0 MAST1 22983 broad.mit.edu 37 19 12969220 12969220 + Silent SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr19:12969220C>T uc002mvm.2 + 11 1250 c.1122C>T c.(1120-1122)TTC>TTT p.F374F MAST1_uc002mvk.2_Silent_p.F370F NM_014975 NP_055790 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 374 Protein kinase. cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(3)|lung(2)|large_intestine(1)|skin(1) 7 AGAATGACTTCGATACCATCA 0.582 NA 21 131 0 0 0 0 ZNF708 7562 broad.mit.edu 37 19 21492100 21492100 + Missense_Mutation SNP T T A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr19:21492100T>A uc002npq.1 - 3 372 c.174A>T c.(172-174)CAA>CAT p.Q58H ZNF708_uc002npr.1_Translation_Start_Site|ZNF708_uc010ecs.1_Translation_Start_Site NM_021269 NP_067092 P17019 ZN708_HUMAN zinc finger protein 708 58 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(4)|skin(2) 6 GCTCTTTTCCTTGCTCCAGAC 0.428 NA 24 72 0 0 0 0 ZNF493 284443 broad.mit.edu 37 19 21606747 21606747 + Missense_Mutation SNP G G C rs143136118 TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr19:21606747G>C uc002npx.2 + 2 1182 c.902G>C c.(901-903)GGA>GCA p.G301A ZNF493_uc002npw.2_Missense_Mutation_p.G429A|ZNF493_uc002npy.2_Missense_Mutation_p.G301A NM_175910 NP_787106 Q6ZR52 ZN493_HUMAN zinc finger protein 493 isoform 1 301 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 ATTCATACTGGAGAGAAACCC 0.338 NA 3 30 0 0 0 0 ZNF91 7644 broad.mit.edu 37 19 23542840 23542840 + Missense_Mutation SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr19:23542840G>A uc002nre.2 - 4 3054 c.2941C>T c.(2941-2943)CTT>TTT p.L981F ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Missense_Mutation_p.L949F NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 981 C2H2-type 30. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) TGTTCAGTAAGAGTTGAAGAT 0.378 NA 5 48 0 0 0 0 KIRREL2 84063 broad.mit.edu 37 19 36355599 36355599 + Missense_Mutation SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr19:36355599G>A uc002ocb.3 + 14 1987 c.1775G>A c.(1774-1776)GGG>GAG p.G592E KIRREL2_uc002obz.3_Missense_Mutation_p.G592E|KIRREL2_uc002oca.3_Missense_Mutation_p.G542E|KIRREL2_uc002occ.3_Missense_Mutation_p.G539E|KIRREL2_uc002ocd.3_Missense_Mutation_p.G554E NM_199180 NP_954649 Q6UWL6 KIRR2_HUMAN kin of IRRE-like 2 isoform c 592 Cytoplasmic (Potential). cell adhesion integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GAGGAGAAAGGGACTCTGGAG 0.597 NA 26 16 0 0 0 0 PSG5 5673 broad.mit.edu 37 19 43688992 43688992 + Missense_Mutation SNP G G C TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr19:43688992G>C uc002ovu.2 - 2 503 c.372C>G c.(370-372)ATC>ATG p.I124M PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_Missense_Mutation_p.I52M|PSG5_uc002ovx.2_Missense_Mutation_p.I124M|PSG5_uc002ovv.2_Missense_Mutation_p.I124M|PSG5_uc002ovw.2_Missense_Mutation_p.I124M NM_002781 NP_002772 Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 124 Ig-like V-type. female pregnancy extracellular region skin(3) 3 Prostate(69;0.00899) CTCGCTTTATGATGTGTAAGG 0.493 NA 114 238 0 0 0 0 ZNF233 353355 broad.mit.edu 37 19 44777511 44777511 + Missense_Mutation SNP C C A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr19:44777511C>A uc002oyz.1 + 5 825 c.698C>A c.(697-699)GCT>GAT p.A233D ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF233_uc002oyy.1_Missense_Mutation_p.A48D NM_181756 NP_861421 A6NK53 ZN233_HUMAN zinc finger protein 233 233 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) AGAGAGAAAGCTTTTAGCCAC 0.368 NA 9 26 0.000274275 0.000447279 1 0 SFRS16 11129 broad.mit.edu 37 19 45563652 45563652 + Missense_Mutation SNP T T A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr19:45563652T>A uc002pak.2 + 9 814 c.716T>A c.(715-717)CTC>CAC p.L239H SFRS16_uc002pal.2_RNA|SFRS16_uc010xxh.1_Missense_Mutation_p.L177H|SFRS16_uc002pam.2_Missense_Mutation_p.L239H|SFRS16_uc002pan.1_RNA NM_007056 NP_008987 Q8N2M8 CLASR_HUMAN splicing factor, arginine/serine-rich 16 239 mRNA processing|RNA splicing nucleus 0 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0102) TATAGGATGCTCCGGAAAGAC 0.572 NA 8 28 0 0 0 0 SYMPK 8189 broad.mit.edu 37 19 46328447 46328447 + Silent SNP C C G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr19:46328447C>G uc002pdn.2 - 18 2717 c.2472G>C c.(2470-2472)CTG>CTC p.L824L SYMPK_uc002pdo.1_Silent_p.L824L|SYMPK_uc002pdp.1_Silent_p.L824L NM_004819 NP_004810 Q92797 SYMPK_HUMAN symplekin 824 cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding ovary(1) 1 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) CAATGACCCTCAGCACCGTCC 0.647 NA 5 66 0 0 0 0 GRLF1 2909 broad.mit.edu 37 19 47503732 47503732 + Missense_Mutation SNP C C G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr19:47503732C>G uc010ekv.2 + 6 4287 c.4287C>G c.(4285-4287)ATC>ATG p.I1429M NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN glucocorticoid receptor DNA binding factor 1 1429 Rho-GAP. axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity central_nervous_system(1) 1 all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077) all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289) AACTCTTTATCCAGCAGTGCC 0.597 NA 30 103 0 0 0 0 NUP62 23636 broad.mit.edu 37 19 50412910 50412910 + Missense_Mutation SNP G G C TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr19:50412910G>C uc002pqx.2 - 2 259 c.155C>G c.(154-156)ACA>AGA p.T52R IL4I1_uc002pqv.1_Intron|IL4I1_uc010eno.1_Intron|IL4I1_uc002pqw.1_Intron|IL4I1_uc002pqu.1_Intron|NUP62_uc002pqy.2_Missense_Mutation_p.T52R|NUP62_uc002pqz.2_Missense_Mutation_p.T52R|NUP62_uc002pra.2_Missense_Mutation_p.T52R|NUP62_uc002prb.2_Missense_Mutation_p.T52R|NUP62_uc002prc.2_Missense_Mutation_p.T52R NM_153719 NP_714941 P37198 NUP62_HUMAN nucleoporin 62kDa 52 15 X 9 AA approximate repeats.|Thr-rich. carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding 0 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) AGGGGTACTTGTGGCTGGTTG 0.567 NA 7 134 0 0 0 0 SIGLEC5 8778 broad.mit.edu 37 19 52115506 52115506 + Missense_Mutation SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr19:52115506G>A uc002pxe.2 - 9 1773 c.1634C>T c.(1633-1635)TCG>TTG p.S545L NM_003830 NP_003821 O15389 SIGL5_HUMAN sialic acid binding Ig-like lectin 5 precursor 545 SLAM-like motif.|Cytoplasmic (Potential). cell adhesion integral to membrane sugar binding skin(2)|breast(1)|central_nervous_system(1) 4 all_neural(266;0.0726) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218) CTTGATCTCCGAGTACTCCGT 0.537 NA 16 80 0 0 0 0 APOB 338 broad.mit.edu 37 2 21224885 21224885 + Missense_Mutation SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr2:21224885G>A uc002red.2 - 29 13537 c.13409C>T c.(13408-13410)TCT>TTT p.S4470F NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 4470 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) AGCAGTGGCAGAAAGCTCTGC 0.383 NA 12 71 0 0 0 0 PFN4 375189 broad.mit.edu 37 2 24345335 24345335 + Missense_Mutation SNP A A T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr2:24345335A>T uc002rfa.1 - 2 247 c.71T>A c.(70-72)ATC>AAC p.I24N LOC375190_uc002rew.2_Intron|LOC375190_uc010ykl.1_5'Flank|LOC375190_uc002rfb.2_5'Flank NM_199346 NP_955378 Q8NHR9 PROF4_HUMAN profilin family, member 4 24 actin cytoskeleton organization actin cytoskeleton|cytoplasm actin binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTGGATTTTGATGAGGGCTGC 0.428 NA 65 49 0 0 0 0 DNMT3A 1788 broad.mit.edu 37 2 25463307 25463307 + Missense_Mutation SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr2:25463307C>T uc002rgc.2 - 19 2443 c.2186G>A c.(2185-2187)CGG>CAG p.R729Q DNMT3A_uc002rgd.2_Missense_Mutation_p.R729Q|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.R540Q NM_022552 NP_072046 Q9Y6K1 DNM3A_HUMAN DNA cytosine methyltransferase 3 alpha isoform 729 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding p.R729Q(1)|p.R729W(1) haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3) 140 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AAAGAAGAGCCGGCCAGTGCC 0.612 NA Mis|F|N|S AML 30 28 0 0 0 0 EHBP1 23301 broad.mit.edu 37 2 63217961 63217961 + Missense_Mutation SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr2:63217961G>A uc002sby.2 + 18 3414 c.2932G>A c.(2932-2934)GAG>AAG p.E978K EHBP1_uc010fcp.2_Missense_Mutation_p.E907K|EHBP1_uc002sbz.2_Missense_Mutation_p.E907K|EHBP1_uc002scb.2_Missense_Mutation_p.E943K NM_015252 NP_056067 Q8NDI1 EHBP1_HUMAN EH domain binding protein 1 isoform 1 978 cytoplasm|membrane ovary(1)|breast(1) 2 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) TGAGAGCTCAGAGCAGGACAT 0.418 NA Hereditary_Prostate_Cancer 6 38 0 0 0 0 MEIS1 4211 broad.mit.edu 37 2 66775128 66775128 + Silent SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr2:66775128C>T uc002sdu.2 + 9 1399 c.942C>T c.(940-942)CTC>CTT p.L314L MEIS1_uc002sdt.2_Silent_p.L314L|MEIS1_uc002sdv.2_Silent_p.L312L|MEIS1_uc010yqh.1_RNA|MEIS1_uc010yqi.1_Silent_p.L249L|MEIS1_uc002sdw.1_Silent_p.L170L NM_002398 NP_002389 O00470 MEIS1_HUMAN Meis homeobox 1 314 Homeobox; TALE-type. sequence-specific DNA binding transcription factor activity 0 ACACGGGACTCACCATCCTTC 0.423 NA 13 31 0 0 0 0 ASPRV1 151516 broad.mit.edu 37 2 70188034 70188034 + Silent SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr2:70188034G>A uc002sfz.3 - 1 1364 c.787C>T c.(787-789)CTA>TTA p.L263L NM_152792 NP_690005 Q53RT3 APRV1_HUMAN aspartic peptidase, retroviral-like 1 precursor 263 Peptidase A2.|Extracellular (Potential). protein maturation by peptide bond cleavage|skin development aspartic-type endopeptidase activity ovary(1) 1 AGCTTGCCTAGGGACACCGCT 0.542 NA 25 60 0 0 0 0 ZNF638 27332 broad.mit.edu 37 2 71653623 71653623 + Missense_Mutation SNP G G T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr2:71653623G>T uc002shx.2 + 24 4943 c.4624G>T c.(4624-4626)GTT>TTT p.V1542F ZNF638_uc002shy.2_Missense_Mutation_p.V1542F|ZNF638_uc002shz.2_Missense_Mutation_p.V1542F|ZNF638_uc002sia.2_Missense_Mutation_p.V1542F|ZNF638_uc002sib.1_Missense_Mutation_p.L1133F|ZNF638_uc010fed.2_Intron|ZNF638_uc002sic.2_Missense_Mutation_p.V639F|ZNF638_uc002sid.2_5'UTR NM_014497 NP_055312 Q14966 ZN638_HUMAN zinc finger protein 638 1542 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding pancreas(2)|ovary(1)|skin(1) 4 GGATGAATTTGTTACTGTGGA 0.348 NA 18 20 1.56e-12 2.67e-12 1 0 REG1B 5968 broad.mit.edu 37 2 79314023 79314023 + Missense_Mutation SNP C C G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr2:79314023C>G uc002sny.2 - 3 210 c.98G>C c.(97-99)CGA>CCA p.R33P REG1B_uc010ffv.1_Missense_Mutation_p.R33P|REG1B_uc010ffw.2_Missense_Mutation_p.R33P NM_006507 NP_006498 P48304 REG1B_HUMAN regenerating islet-derived 1 beta precursor 33 cell proliferation extracellular region sugar binding p.R33*(1) central_nervous_system(1)|skin(1) 2 GCAGCTGATTCGGGGATTAGG 0.498 NA 68 53 0 0 0 0 CTNNA2 1496 broad.mit.edu 37 2 79878701 79878701 + Missense_Mutation SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr2:79878701C>T uc010ysh.1 + 1 24 c.19C>T c.(19-21)CCT>TCT p.P7S CTNNA2_uc010yse.1_Missense_Mutation_p.P7S|CTNNA2_uc010ysf.1_Missense_Mutation_p.P7S|CTNNA2_uc010ysg.1_Missense_Mutation_p.P7S|hsa-mir-4264|MI0015877_5'Flank NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 7 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 GGCAACTTCACCTATCATTCT 0.403 NA 24 57 0 0 0 0 DPP10 57628 broad.mit.edu 37 2 116447315 116447315 + Missense_Mutation SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr2:116447315G>A uc002tla.1 + 6 951 c.494G>A c.(493-495)AGG>AAG p.R165K DPP10_uc002tlb.1_Missense_Mutation_p.R115K|DPP10_uc002tlc.1_Missense_Mutation_p.R161K|DPP10_uc002tle.2_Missense_Mutation_p.R169K|DPP10_uc002tlf.1_Missense_Mutation_p.R158K NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 165 Extracellular (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 ATACACACTAGGTAAGTTCTT 0.264 NA 4 16 0 0 0 0 LRP1B 53353 broad.mit.edu 37 2 141260622 141260622 + Missense_Mutation SNP G G C TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr2:141260622G>C uc002tvj.1 - 54 9544 c.8572C>G c.(8572-8574)CTT>GTT p.L2858V NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2858 Extracellular (Potential).|LDL-receptor class A 19. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GTATTTAGAAGACACCGCCCA 0.388 NA TSP Lung(27;0.18) 20 52 0 0 0 0 MBD5 55777 broad.mit.edu 37 2 149227843 149227843 + Silent SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr2:149227843C>T uc002twm.3 + 9 3319 c.2331C>T c.(2329-2331)AAC>AAT p.N777N MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Silent_p.N777N|MBD5_uc002twn.1_Silent_p.N218N NM_018328 NP_060798 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 777 chromosome|nucleus chromatin binding|DNA binding skin(3)|ovary(2) 5 BRCA - Breast invasive adenocarcinoma(221;0.0569) CAGTCCCCAACCACCATCTTG 0.463 NA 21 63 0 0 0 0 NEB 4703 broad.mit.edu 37 2 152499769 152499769 + Missense_Mutation SNP C C G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr2:152499769C>G uc010fnx.2 - 58 8246 c.8055G>C c.(8053-8055)TTG>TTC p.L2685F NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 2685 Nebulin 72. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) CATGGTCACTCAAAATCTGGG 0.413 NA 3 109 0 0 0 0 XIRP2 129446 broad.mit.edu 37 2 168102261 168102261 + Silent SNP T T G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr2:168102261T>G uc002udx.2 + 8 4377 c.4359T>G c.(4357-4359)ACT>ACG p.T1453T XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.T1278T|XIRP2_uc010fpq.2_Silent_p.T1231T|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1278 Xin 26. actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 AAACATCTACTTGGCTATTTG 0.348 NA 10 15 0 0 0 0 GPR155 151556 broad.mit.edu 37 2 175346518 175346518 + Missense_Mutation SNP C C G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr2:175346518C>G uc002uit.2 - 3 558 c.167G>C c.(166-168)GGC>GCC p.G56A GPR155_uc002uiu.2_Missense_Mutation_p.G56A|GPR155_uc002uiv.2_Missense_Mutation_p.G56A|GPR155_uc010fqs.2_Missense_Mutation_p.G56A NM_001033045 NP_001028217 Q7Z3F1 GP155_HUMAN G protein-coupled receptor 155 isoform 9 56 Helical; (Potential). intracellular signal transduction|transmembrane transport integral to membrane ovary(1) 1 TGCTATGTAGCCACAAAGGAC 0.418 NA 12 34 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179395647 179395647 + Missense_Mutation SNP G G T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr2:179395647G>T uc010zfg.1 - 307 98215 c.97991C>A c.(97990-97992)CCA>CAA p.P32664Q uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P26359Q|TTN_uc010zfi.1_Missense_Mutation_p.P26292Q|TTN_uc010zfj.1_Missense_Mutation_p.P26167Q|TTN_uc002umq.2_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 33591 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) TTTGACTCTTGGTGGTGATGT 0.478 NA 13 141 4.37e-10 7.39e-10 1 0 TTN 7273 broad.mit.edu 37 2 179593094 179593094 + Missense_Mutation SNP T T G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr2:179593094T>G uc010zfg.1 - 64 15949 c.15725A>C c.(15724-15726)AAA>ACA p.K5242T TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K1903T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 6169 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) TTTGGTTAATTTTTTGGTGAA 0.358 NA 6 13 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179654776 179654776 + Missense_Mutation SNP G G T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr2:179654776G>T uc010zfg.1 - 12 2091 c.1867C>A c.(1867-1869)CAA>AAA p.Q623K TTN_uc010zfh.1_Missense_Mutation_p.Q577K|TTN_uc010zfi.1_Missense_Mutation_p.Q577K|TTN_uc010zfj.1_Missense_Mutation_p.Q577K|TTN_uc002unb.2_Missense_Mutation_p.Q623K|TTN_uc010frg.1_Intron NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 623 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) ACTAAATCTTGTTCTTTGACT 0.348 NA 18 27 3.52e-12 6e-12 1 0 TTN 7273 broad.mit.edu 37 2 179655440 179655440 + Missense_Mutation SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr2:179655440C>T uc010zfg.1 - 11 2019 c.1795G>A c.(1795-1797)GAA>AAA p.E599K TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002unb.2_Missense_Mutation_p.E599K|TTN_uc010frg.1_Intron NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 599 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) ATCACCTTTTCATAACTTAGG 0.408 NA 6 82 0 0 0 0 PMS1 5378 broad.mit.edu 37 2 190719576 190719576 + Silent SNP T T C TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr2:190719576T>C uc002urh.3 + 9 2107 c.1578T>C c.(1576-1578)TGT>TGC p.C526C PMS1_uc010zga.1_Silent_p.C487C|PMS1_uc010zgb.1_Silent_p.C465C|PMS1_uc002urk.3_Silent_p.C487C|PMS1_uc002uri.3_Silent_p.C526C|PMS1_uc010zgc.1_Silent_p.C350C|PMS1_uc010zgd.1_Silent_p.C350C|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Silent_p.C487C|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Silent_p.C311C|PMS1_uc002urm.2_RNA|PMS1_uc002urn.1_Silent_p.C194C NM_000534 NP_000525 P54277 PMS1_HUMAN postmeiotic segregation 1 isoform a 526 mismatch repair|reciprocal meiotic recombination MutLalpha complex ATP binding|ATPase activity|mismatched DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751) GTTTACCATGTAAAGTAAGTA 0.294 NA Mis|N colorectal|endometrial|ovarian Direct_reversal_of_damage|MMR 12 30 0 0 0 0 STAT1 6772 broad.mit.edu 37 2 191863005 191863005 + Missense_Mutation SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr2:191863005C>T uc002usj.2 - 8 959 c.571G>A c.(571-573)GAT>AAT p.D191N STAT1_uc010fse.1_Missense_Mutation_p.D191N|STAT1_uc002usk.2_Missense_Mutation_p.D191N|STAT1_uc002usl.2_Missense_Mutation_p.D193N|STAT1_uc010fsf.1_Intron NM_007315 NP_009330 P42224 STAT1_HUMAN signal transducer and activator of transcription 191 activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) TGTTTCTGATCACTCTTTGCC 0.338 NA 7 64 0 0 0 0 DNAH7 56171 broad.mit.edu 37 2 196664153 196664153 + Missense_Mutation SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr2:196664153C>T uc002utj.3 - 55 10321 c.10220G>A c.(10219-10221)CGT>CAT p.R3407H NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3407 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 AATGAATGCACGTCCCAATCT 0.418 NA 28 75 0 0 0 0 GTF3C3 9330 broad.mit.edu 37 2 197641315 197641315 + Missense_Mutation SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr2:197641315C>T uc002uts.2 - 11 1519 c.1429G>A c.(1429-1431)GAA>AAA p.E477K GTF3C3_uc010zgu.1_Missense_Mutation_p.E448K NM_012086 NP_036218 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 477 TPR 8. transcription factor TFIIIC complex DNA binding|protein binding ovary(3)|breast(3)|pancreas(1) 7 CCATAGCTTTCAGCAGCTCGC 0.438 NA 5 87 0 0 0 0 FN1 2335 broad.mit.edu 37 2 216286886 216286886 + Missense_Mutation SNP G G C TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr2:216286886G>C uc002vfa.2 - 10 1740 c.1474C>G c.(1474-1476)CAC>GAC p.H492D FN1_uc002vfb.2_Missense_Mutation_p.H492D|FN1_uc002vfc.2_Missense_Mutation_p.H492D|FN1_uc002vfd.2_Missense_Mutation_p.H492D|FN1_uc002vfe.2_Missense_Mutation_p.H492D|FN1_uc002vff.2_Missense_Mutation_p.H492D|FN1_uc002vfg.2_Missense_Mutation_p.H492D|FN1_uc002vfh.2_Missense_Mutation_p.H492D|FN1_uc002vfi.2_Missense_Mutation_p.H492D|FN1_uc002vfj.2_Missense_Mutation_p.H492D|FN1_uc002vfl.2_Missense_Mutation_p.H492D NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 492 Collagen-binding.|Fibronectin type-I 7. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTCATCATGTGACCCATGTCA 0.478 NA 21 100 0 0 0 0 SP140 11262 broad.mit.edu 37 2 231112644 231112644 + Silent SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr2:231112644C>T uc002vql.2 + 8 871 c.756C>T c.(754-756)AAC>AAT p.N252N SP140_uc010zma.1_Intron|SP140_uc002vqk.2_Silent_p.N252N|SP140_uc002vqn.2_Intron|SP140_uc002vqm.2_Silent_p.N226N|SP140_uc010fxl.2_Silent_p.N252N NM_007237 NP_009168 Q13342 LY10_HUMAN SP140 nuclear body protein isoform 1 252 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) TAGAAAGCAACGGGATGATAG 0.443 NA 32 70 0 0 0 0 GBX2 2637 broad.mit.edu 37 2 237075004 237075004 + Silent SNP C C A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr2:237075004C>A uc002vvw.1 - 2 638 c.600G>T c.(598-600)TCG>TCT p.S200S GBX2_uc010zng.1_Missense_Mutation_p.A203S NM_001485 NP_001476 P52951 GBX2_HUMAN gastrulation brain homeo box 2 200 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179) Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471) CGCTCTCCAGCGAGAAGCTCT 0.602 NA 39 79 2.76e-19 4.76e-19 1 0 TGM6 343641 broad.mit.edu 37 20 2375175 2375175 + Missense_Mutation SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr20:2375175G>A uc002wfy.1 + 2 146 c.85G>A c.(85-87)GAG>AAG p.E29K TGM6_uc010gal.1_Missense_Mutation_p.E29K NM_198994 NP_945345 O95932 TGM3L_HUMAN transglutaminase 6 29 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(3)|skin(1) 4 L-Glutamine(DB00130) CCCCTGCCCTGAGCTGGTGGT 0.627 NA 4 30 0 0 0 0 TM9SF4 9777 broad.mit.edu 37 20 30729430 30729430 + Silent SNP C C T rs117023270 by1000genomes TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr20:30729430C>T uc002wxj.2 + 4 595 c.360C>T c.(358-360)CTC>CTT p.L120L TM9SF4_uc010ztr.1_Silent_p.L46L|TM9SF4_uc010zts.1_Silent_p.L27L|TM9SF4_uc002wxk.2_Silent_p.L103L|TM9SF4_uc010gdz.2_Silent_p.L27L NM_014742 NP_055557 Q92544 TM9S4_HUMAN transmembrane 9 superfamily protein member 4 120 integral to membrane central_nervous_system(1)|pancreas(1) 2 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) AGAGCCGACTCGTGGCCGAGC 0.577 NA 9 137 0 0 0 0 NCOA6 23054 broad.mit.edu 37 20 33329653 33329653 + Silent SNP T T C TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr20:33329653T>C uc002xav.2 - 12 6978 c.4407A>G c.(4405-4407)AAA>AAG p.K1469K NCOA6_uc002xaw.2_Silent_p.K1469K NM_014071 NP_054790 Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1469 brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding ovary(3)|breast(3)|central_nervous_system(1) 7 CACTGGGAAGTTTGTTAGGAT 0.448 NA 31 140 0 0 0 0 KIAA1755 85449 broad.mit.edu 37 20 36850870 36850870 + Missense_Mutation SNP C C G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr20:36850870C>G uc002xhy.1 - 10 2670 c.2398G>C c.(2398-2400)GAC>CAC p.D800H KIAA1755_uc002xhx.1_Missense_Mutation_p.D78H NM_001029864 NP_001025035 Q5JYT7 K1755_HUMAN hypothetical protein LOC85449 800 ovary(4)|pancreas(1) 5 Myeloproliferative disorder(115;0.00874) GGGCTGAAGTCCAGCCTGCTG 0.642 NA OREG0025921 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 95 0 0 0 0 PLCG1 5335 broad.mit.edu 37 20 39791883 39791883 + Missense_Mutation SNP G G C TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr20:39791883G>C uc002xjp.1 + 8 878 c.757G>C c.(757-759)GAG>CAG p.E253Q PLCG1_uc002xjo.1_Missense_Mutation_p.E253Q|PLCG1_uc010zwe.1_5'Flank|PLCG1_uc010ggf.2_5'Flank NM_182811 NP_877963 P19174 PLCG1_HUMAN phospholipase C, gamma 1 isoform b 253 activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity lung(3)|breast(3)|skin(2) 8 Myeloproliferative disorder(115;0.00878) GTCCCTTCCTGAGTTCCAGCA 0.607 NA 20 111 0 0 0 0 SLCO4A1 28231 broad.mit.edu 37 20 61292481 61292481 + Missense_Mutation SNP G G A rs138628669 TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr20:61292481G>A uc002ydb.1 + 5 1280 c.1075G>A c.(1075-1077)GAG>AAG p.E359K SLCO4A1_uc002ydc.1_RNA NM_016354 NP_057438 Q96BD0 SO4A1_HUMAN solute carrier organic anion transporter family 359 Cytoplasmic (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(1) 1 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;2.33e-06) CAGCCGTGGGGAGGCGAGCAA 0.617 NA 30 67 0 0 0 0 DIDO1 11083 broad.mit.edu 37 20 61541176 61541176 + Missense_Mutation SNP C C G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr20:61541176C>G uc002ydr.1 - 4 1300 c.1036G>C c.(1036-1038)GAT>CAT p.D346H DIDO1_uc002yds.1_Missense_Mutation_p.D346H|DIDO1_uc002ydt.1_Missense_Mutation_p.D346H|DIDO1_uc002ydu.1_Missense_Mutation_p.D346H|DIDO1_uc002ydv.1_Missense_Mutation_p.D346H|DIDO1_uc002ydw.1_Missense_Mutation_p.D346H|DIDO1_uc002ydx.1_Missense_Mutation_p.D346H|DIDO1_uc011aao.1_Missense_Mutation_p.D346H NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 346 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) TCGGTGCCATCAGCATCTCCA 0.458 NA 7 170 0 0 0 0 SAMD10 140700 broad.mit.edu 37 20 62608706 62608706 + Missense_Mutation SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr20:62608706C>T uc002yhm.2 - 2 320 c.145G>A c.(145-147)GAG>AAG p.E49K SAMD10_uc002yhn.2_RNA NM_080621 NP_542188 Q9BYL1 SAM10_HUMAN sterile alpha motif domain containing 10 49 0 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) GGGATGCTCTCAGCTGACACC 0.652 NA 9 92 0 0 0 0 GABPA 2551 broad.mit.edu 37 21 27130510 27130510 + Missense_Mutation SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr21:27130510G>A uc002ylx.3 + 6 1270 c.743G>A c.(742-744)CGA>CAA p.R248Q GABPA_uc002yly.3_Missense_Mutation_p.R248Q NM_002040 NP_002031 Q06546 GABPA_HUMAN GA binding protein transcription factor, alpha 248 PNT. positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding ovary(1)|central_nervous_system(1) 2 GAACTTCTCCGAAAATGTATG 0.328 NA 13 28 0 0 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28338237 28338237 + Silent SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr21:28338237G>A uc002ymg.2 - 1 1203 c.474C>T c.(472-474)GTC>GTT p.V158V NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 158 proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 GCGCGTGCTTGACCGCGAAGA 0.657 NA 7 26 0 0 0 0 WRB 7485 broad.mit.edu 37 21 40762689 40762689 + Missense_Mutation SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr21:40762689G>A uc002yxs.2 + 2 266 c.168G>A c.(166-168)ATG>ATA p.M56I WRB_uc011aeo.1_RNA|WRB_uc011aep.1_Missense_Mutation_p.M56I|WRB_uc002yxt.3_Missense_Mutation_p.M22I|WRB_uc010goj.2_RNA NM_004627 NP_004618 O00258 WRB_HUMAN tryptophan rich basic protein isoform 1 56 Potential. integral to membrane|nucleolus 0 Prostate(19;1.2e-06) TCCAGGACATGAAGCAGGAGC 0.542 NA 4 28 0 0 0 0 SLC19A1 6573 broad.mit.edu 37 21 46951984 46951984 + Silent SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr21:46951984G>A uc002zhl.1 - 3 387 c.268C>T c.(268-270)CTG>TTG p.L90L SLC19A1_uc010gpy.1_Silent_p.L90L|SLC19A1_uc011aft.1_Silent_p.L50L|SLC19A1_uc002zhm.1_Silent_p.L90L|SLC19A1_uc010gpz.1_5'UTR NM_194255 NP_919231 P41440 S19A1_HUMAN solute carrier family 19 member 1 90 Cytoplasmic (Probable). folic acid metabolic process integral to plasma membrane|membrane fraction folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity 0 Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172) GTGTAGCGCAGGTAGTCGGTG 0.672 NA 16 28 0 0 0 0 DGCR2 9993 broad.mit.edu 37 22 19076905 19076905 + Missense_Mutation SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr22:19076905C>T uc002zoq.1 - 2 426 c.178G>A c.(178-180)GAG>AAG p.E60K DGCR2_uc002zor.1_5'UTR|DGCR2_uc011agr.1_Intron NM_005137 NP_005128 P98153 IDD_HUMAN integral membrane protein DGCR2 precursor 60 Extracellular (Potential).|LDL-receptor class A. cell adhesion|organ morphogenesis integral to membrane receptor activity|sugar binding large_intestine(1) 1 Colorectal(54;0.0993) TCGTCGCTCTCATCCTCGCAA 0.607 NA 14 123 0 0 0 0 CLTCL1 8218 broad.mit.edu 37 22 19183840 19183840 + Silent SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr22:19183840G>A uc002zpb.2 - 27 4203 c.4128C>T c.(4126-4128)CTC>CTT p.L1376L CLTCL1_uc011agv.1_Silent_p.L1376L|CLTCL1_uc011agw.1_Silent_p.L1355L|CLTCL1_uc011agt.1_Silent_p.L167L|CLTCL1_uc011agu.1_Silent_p.L167L|CLTCL1_uc010grm.1_Silent_p.L136L|CLTCL1_uc002zpe.2_3'UTR|CLTCL1_uc002zpd.1_Silent_p.L283L NM_007098 NP_009029 P53675 CLH2_HUMAN clathrin, heavy polypeptide-like 1 isoform 1 1376 Involved in binding clathrin light chain (By similarity).|Proximal segment.|Heavy chain arm. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity ovary(4)|central_nervous_system(1) 5 Colorectal(54;0.0993) TCATCATGGTGAGCACAGCAT 0.567 NA T ? ALCL 8 72 0 0 0 0 CLTCL1 8218 broad.mit.edu 37 22 19209480 19209480 + Missense_Mutation SNP C C G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr22:19209480C>G uc002zpb.2 - 16 2630 c.2555G>C c.(2554-2556)AGA>ACA p.R852T CLTCL1_uc011agv.1_Missense_Mutation_p.R852T|CLTCL1_uc011agw.1_Missense_Mutation_p.R852T NM_007098 NP_009029 P53675 CLH2_HUMAN clathrin, heavy polypeptide-like 1 isoform 1 852 Proximal segment.|Heavy chain arm. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity ovary(4)|central_nervous_system(1) 5 Colorectal(54;0.0993) TTACCTATTTCTTTTTTCTAC 0.418 NA T ? ALCL 7 106 0 0 0 0 TBX1 6899 broad.mit.edu 37 22 19766783 19766783 + Silent SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr22:19766783G>A uc002zqb.2 + 9 1179 c.1050G>A c.(1048-1050)ACG>ACA p.T350T TBX1_uc002zqc.2_Intron NM_080646 NP_542377 O43435 TBX1_HUMAN T-box 1 isoform A 350 embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development nucleus protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|breast(1) 2 Colorectal(54;0.0993) all_lung(157;3.05e-06) AAGCTGAGACGTCTAGGAACA 0.547 NA 23 137 0 0 0 0 PI4KA 5297 broad.mit.edu 37 22 21157491 21157491 + Nonsense_Mutation SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr22:21157491G>A uc002zsz.3 - 13 1636 c.1405C>T c.(1405-1407)CAG>TAG p.Q469* PI4KA_uc010gsq.1_Nonsense_Mutation_p.Q527* NM_058004 NP_477352 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase type 3 alpha 469 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1) 4 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) GTGTGGTACTGACTGTGGTAC 0.547 NA 14 158 0 0 0 0 P2RX6 9127 broad.mit.edu 37 22 21377467 21377467 + Silent SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr22:21377467C>T uc010gsu.1 + 6 618 c.618C>T c.(616-618)TTC>TTT p.F206F P2RX6_uc002ztz.2_Silent_p.F180F|P2RX6_uc002zua.2_RNA|P2RX6_uc002zuc.1_RNA NM_005446 NP_005437 O15547 P2RX6_HUMAN purinergic receptor P2X6 isoform 1 206 Extracellular (Potential). muscle contraction|protein homooligomerization cell junction|cytoplasm|integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity 0 CAGTCACCTTCAGCAAGTTCA 0.572 NA 11 283 0 0 0 0 MYO18B 84700 broad.mit.edu 37 22 26343755 26343755 + Silent SNP G G C TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr22:26343755G>C uc003abz.1 + 36 5959 c.5709G>C c.(5707-5709)CTG>CTC p.L1903L MYO18B_uc003aca.1_Silent_p.L1784L|MYO18B_uc010guy.1_Silent_p.L1785L|MYO18B_uc010guz.1_Silent_p.L1783L|MYO18B_uc011aka.1_Silent_p.L1057L|MYO18B_uc011akb.1_Silent_p.L1416L NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1903 Tail.|Potential. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 AGGATGACCTGAATGAGCTGA 0.557 NA 9 18 0 0 0 0 CRYBA4 1413 broad.mit.edu 37 22 27026341 27026341 + Nonsense_Mutation SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr22:27026341C>T uc003acz.3 + 6 516 c.481C>T c.(481-483)CAG>TAG p.Q161* NM_001886 NP_001877 P53673 CRBA4_HUMAN crystallin, beta A4 161 Beta/gamma crystallin 'Greek key' 4. camera-type eye development|visual perception soluble fraction structural constituent of eye lens 0 CCGAGGATTTCAGTATGTGCT 0.537 NA 12 35 0 0 0 0 TCN2 6948 broad.mit.edu 37 22 31010483 31010483 + Missense_Mutation SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr22:31010483C>T uc003aip.1 + 4 733 c.575C>T c.(574-576)TCT>TTT p.S192F TCN2_uc003aiq.1_Missense_Mutation_p.S188F|TCN2_uc003air.1_Missense_Mutation_p.S165F NM_000355 NP_000346 P20062 TCO2_HUMAN transcobalamin II precursor 192 Cobalamin binding. cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular space cobalamin binding central_nervous_system(1) 1 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GGCCACCATTCTGTGGGTGAG 0.602 NA 9 17 0 0 0 0 FOXRED2 80020 broad.mit.edu 37 22 36886209 36886209 + Missense_Mutation SNP T T C TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr22:36886209T>C uc003apn.3 - 8 2009 c.1901A>G c.(1900-1902)CAC>CGC p.H634R FOXRED2_uc003apm.3_Missense_Mutation_p.H186R|FOXRED2_uc003apo.3_Missense_Mutation_p.H634R|FOXRED2_uc003app.3_Missense_Mutation_p.H634R NM_024955 NP_079231 Q8IWF2 FXRD2_HUMAN FAD-dependent oxidoreductase domain containing 2 634 ER-associated protein catabolic process endoplasmic reticulum lumen flavin adenine dinucleotide binding|oxidoreductase activity|protein binding lung(1)|kidney(1) 2 CTCCACTCTGTGCTGCCAAAG 0.637 NA 12 100 0 0 0 0 MKL1 57591 broad.mit.edu 37 22 40825650 40825650 + Missense_Mutation SNP G G T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr22:40825650G>T uc003ayv.1 - 4 468 c.261C>A c.(259-261)AAC>AAA p.N87K MKL1_uc003ayw.1_Missense_Mutation_p.N87K|MKL1_uc010gye.1_Missense_Mutation_p.N87K|MKL1_uc010gyf.1_Missense_Mutation_p.N87K NM_020831 NP_065882 Q969V6 MKL1_HUMAN megakaryoblastic leukemia 1 protein 87 RPEL 2.|Mediates interaction with SCAI and ACTB (By similarity). positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 CAGGAAGGATGTTCTTCTCCA 0.577 NA T RBM15 acute megakaryocytic leukemia 35 14 2e-19 3.45e-19 1 0 PLXNB2 23654 broad.mit.edu 37 22 50721260 50721260 + Missense_Mutation SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr22:50721260C>T uc003bkv.3 - 18 2973 c.2867G>A c.(2866-2868)CGG>CAG p.R956Q PLXNB2_uc003bkt.1_5'Flank|PLXNB2_uc003bku.1_5'Flank NM_012401 NP_036533 O15031 PLXB2_HUMAN plexin B2 precursor 956 Extracellular (Potential).|IPT/TIG 2. regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity ovary(4)|central_nervous_system(1)|skin(1) 6 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CATCTGGCCCCGTGTCGCCTG 0.672 NA 4 28 0 0 0 0 LRRN1 57633 broad.mit.edu 37 3 3888390 3888390 + Nonsense_Mutation SNP G G T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr3:3888390G>T uc003bpt.3 + 2 2826 c.2065G>T c.(2065-2067)GAA>TAA p.E689* SUMF1_uc003bps.1_Intron NM_020873 NP_065924 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 precursor 689 Cytoplasmic (Potential). integral to membrane central_nervous_system(1) 1 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) TAACCTCTGGGAAGGTGACAG 0.413 NA 19 9 2.35e-11 4e-11 1 0 HACL1 26061 broad.mit.edu 37 3 15609959 15609959 + Silent SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr3:15609959C>T uc003caf.2 - 13 1390 c.1230G>A c.(1228-1230)CAG>CAA p.Q410Q HACL1_uc011avr.1_RNA|HACL1_uc011avs.1_Silent_p.Q383Q|HACL1_uc011avt.1_Silent_p.Q350Q|HACL1_uc003cag.2_Silent_p.Q54Q|HACL1_uc011avu.1_Silent_p.Q328Q|HACL1_uc010hep.2_Silent_p.Q169Q NM_012260 NP_036392 Q9UJ83 HACL1_HUMAN 2-hydroxyphytanoyl-CoA lyase 410 Thiamine pyrophosphate binding. fatty acid alpha-oxidation peroxisomal matrix carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding 0 GAAGGTAGTTCTGAAGCACAG 0.368 NA 5 40 0 0 0 0 TGFBR2 7048 broad.mit.edu 37 3 30713698 30713698 + Silent SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr3:30713698C>T uc003ceo.2 + 4 1405 c.1023C>T c.(1021-1023)GTC>GTT p.V341V TGFBR2_uc003cen.2_Silent_p.V366V NM_003242 NP_003233 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II 341 Protein kinase.|Cytoplasmic (Potential). activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1) 26 CGCGGCATGTCATCAGCTGGG 0.617 NA 52 40 0 0 0 0 MLH1 4292 broad.mit.edu 37 3 37048548 37048548 + Silent SNP G G A rs63750638 TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr3:37048548G>A uc003cgl.2 + 5 507 c.447G>A c.(445-447)CAG>CAA p.Q149Q MLH1_uc011aye.1_5'UTR|MLH1_uc011ayb.1_5'UTR|MLH1_uc010hge.2_Silent_p.Q149Q|MLH1_uc003cgn.3_5'UTR|MLH1_uc011ayc.1_Silent_p.Q51Q|MLH1_uc011ayd.1_5'UTR|MLH1_uc003cgo.2_5'UTR NM_000249 NP_000240 P40692 MLH1_HUMAN MutL protein homolog 1 149 mismatch repair|somatic hypermutation of immunoglobulin genes chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|protein binding p.0?(1) large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|breast(3)|prostate(3)|skin(2)|NS(1) 77 AAGGGACCCAGATCACGGTAA 0.343 1 D|Mis|N|F|S colorectal|endometrial|ovarian|CNS colorectal|endometrial|ovarian|CNS MMR Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome 22 15 0 0 0 0 DLEC1 9940 broad.mit.edu 37 3 38081086 38081086 + Missense_Mutation SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr3:38081086G>A uc003cho.1 + 1 391 c.370G>A c.(370-372)GAG>AAG p.E124K DLEC1_uc003chp.1_Missense_Mutation_p.E124K|DLEC1_uc010hgv.1_Missense_Mutation_p.E124K NM_007335 NP_031361 Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 isoform 124 negative regulation of cell proliferation cytoplasm ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1) 9 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) CCGCGGCAGCGAGAATGAGCG 0.647 NA 23 39 0 0 0 0 TTC21A 199223 broad.mit.edu 37 3 39156090 39156090 + Missense_Mutation SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr3:39156090G>A uc003cjc.2 + 6 750 c.573G>A c.(571-573)ATG>ATA p.M191I TTC21A_uc003cja.2_Missense_Mutation_p.M191I|TTC21A_uc010hho.1_Missense_Mutation_p.M113I|TTC21A_uc003cjb.2_Missense_Mutation_p.D58N|TTC21A_uc003cje.2_Missense_Mutation_p.M191I|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Missense_Mutation_p.M150I NM_145755 NP_665698 Q8NDW8 TT21A_HUMAN tetratricopeptide repeat domain 21A isoform 2 191 TPR 4. binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) TGTACTTCATGATGCAGCAGA 0.557 NA 62 57 0 0 0 0 ALS2CL 259173 broad.mit.edu 37 3 46713495 46713495 + Missense_Mutation SNP C C G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr3:46713495C>G uc003cqa.1 - 24 2753 c.2563G>C c.(2563-2565)GAG>CAG p.E855Q ALS2CL_uc003cpx.1_Missense_Mutation_p.E202Q|ALS2CL_uc003cpy.1_RNA|ALS2CL_uc003cpz.1_Missense_Mutation_p.E370Q|ALS2CL_uc003cqb.1_Missense_Mutation_p.E855Q|ALS2CL_uc003cqc.1_RNA NM_147129 NP_667340 Q60I27 AL2CL_HUMAN ALS2 C-terminal like isoform 1 855 VPS9. endosome organization|regulation of Rho protein signal transduction GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) TCCAGCACCTCCAGCTTCTCC 0.622 NA 3 50 0 0 0 0 NBEAL2 23218 broad.mit.edu 37 3 47033992 47033992 + Missense_Mutation SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr3:47033992G>A uc003cqp.2 + 10 1239 c.1060G>A c.(1060-1062)GAG>AAG p.E354K NBEAL2_uc003cqq.1_Intron|NBEAL2_uc010hjm.1_5'Flank NM_015175 NP_055990 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 354 binding ovary(1) 1 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) GGCGCCCCCCGAGGGGGACAG 0.637 NA 5 4 0 0 0 0 CCDC36 339834 broad.mit.edu 37 3 49294689 49294689 + Missense_Mutation SNP G G C TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr3:49294689G>C uc003cwk.2 + 10 2146 c.1759G>C c.(1759-1761)GAT>CAT p.D587H CCDC36_uc011bck.1_Missense_Mutation_p.D587H NM_178173 NP_835467 Q8IYA8 CCD36_HUMAN coiled-coil domain containing 36 587 ovary(1)|kidney(1) 2 BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262) CCTGGGTTTTGATAGCAGTGA 0.478 NA 3 162 0 0 0 0 RBM5 10181 broad.mit.edu 37 3 50151488 50151488 + Missense_Mutation SNP G G C TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr3:50151488G>C uc003cyg.2 + 19 1871 c.1723G>C c.(1723-1725)GAA>CAA p.E575Q RBM5_uc011bdj.1_Missense_Mutation_p.E519Q|RBM5_uc011bdk.1_Missense_Mutation_p.E403Q|RBM5_uc003cyh.2_Missense_Mutation_p.E32Q NM_005778 NP_005769 P52756 RBM5_HUMAN RNA binding motif protein 5 575 Required for interaction with U2AF2. apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly nucleoplasm|spliceosomal complex DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) AGAAAGGAGAGAATCTGCTGC 0.423 NA 22 24 0 0 0 0 GRM2 2912 broad.mit.edu 37 3 51749374 51749374 + Missense_Mutation SNP G G C TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr3:51749374G>C uc010hlv.2 + 4 1824 c.1585G>C c.(1585-1587)GAG>CAG p.E529Q GRM2_uc003dbo.3_5'UTR|GRM2_uc010hlu.2_RNA NM_000839 NP_000830 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 isoform a 529 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) CCAGCCCTATGAGTACCGATT 0.612 NA 6 15 0 0 0 0 SFMBT1 51460 broad.mit.edu 37 3 52947576 52947576 + Nonsense_Mutation SNP G G C TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr3:52947576G>C uc003dgf.2 - 16 2107 c.1538C>G c.(1537-1539)TCA>TGA p.S513* SFMBT1_uc010hmr.2_Nonsense_Mutation_p.S460*|SFMBT1_uc003dgg.2_Nonsense_Mutation_p.S513*|SFMBT1_uc003dgh.2_Nonsense_Mutation_p.S513* NM_001005159 NP_001005159 Q9UHJ3 SMBT1_HUMAN Scm-like with four mbt domains 1 513 regulation of transcription, DNA-dependent nucleus ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113) ATATGGCCCTGAGAAGCAACG 0.403 NA 13 11 0 0 0 0 ERC2 26059 broad.mit.edu 37 3 55984515 55984515 + Nonsense_Mutation SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr3:55984515G>A uc003dhr.1 - 13 2597 c.2341C>T c.(2341-2343)CAG>TAG p.Q781* ERC2_uc003dhq.1_RNA|ERC2_uc003dht.1_Nonsense_Mutation_p.Q260* NM_015576 NP_056391 O15083 ERC2_HUMAN cytomatrix protein p110 781 Potential. cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) TCTAGTAACTGAGCATTTTTC 0.428 NA 10 35 0 0 0 0 COL8A1 1295 broad.mit.edu 37 3 99513335 99513335 + Missense_Mutation SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr3:99513335G>A uc003dtg.1 + 5 835 c.590G>A c.(589-591)GGA>GAA p.G197E COL8A1_uc003dth.1_Missense_Mutation_p.G197E|COL8A1_uc003dti.1_Missense_Mutation_p.G198E NM_001850 NP_001841 P27658 CO8A1_HUMAN alpha 1 type VIII collagen precursor 197 Triple-helical region (COL1). angiogenesis|cell adhesion basement membrane|collagen type VIII 0 GGACCACAAGGACCTCCAGGG 0.587 NA 5 58 0 0 0 0 BOC 91653 broad.mit.edu 37 3 112998239 112998239 + Missense_Mutation SNP A A T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr3:112998239A>T uc003dzx.2 + 12 2578 c.1957A>T c.(1957-1959)ATT>TTT p.I653F BOC_uc003dzy.2_Missense_Mutation_p.I653F|BOC_uc003dzz.2_Missense_Mutation_p.I654F|BOC_uc003eab.2_Missense_Mutation_p.I354F|BOC_uc003eac.2_5'Flank NM_033254 NP_150279 Q9BWV1 BOC_HUMAN brother of CDO precursor 653 Fibronectin type-III 2.|Extracellular (Potential). cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1) 6 Epithelial(53;0.227) GGGAGACTGGATTCTGGCCAC 0.602 NA 9 47 0 0 0 0 CD80 941 broad.mit.edu 37 3 119248769 119248769 + Missense_Mutation SNP A A T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr3:119248769A>T uc003ecq.2 - 5 1111 c.716T>A c.(715-717)TTT>TAT p.F239Y CD80_uc010hqt.1_Intron|CD80_uc010hqu.1_Intron NM_005191 NP_005182 P33681 CD80_HUMAN CD80 antigen precursor 239 Extracellular (Potential). interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation intracellular coreceptor activity|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 Abatacept(DB01281) GTTATCAGGAAAATGCTCTTG 0.408 NA 5 61 0 0 0 0 NDUFB4 4710 broad.mit.edu 37 3 120315376 120315376 + Missense_Mutation SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr3:120315376G>A uc003edu.2 + 1 249 c.170G>A c.(169-171)CGA>CAA p.R57Q NDUFB4_uc003edt.2_Missense_Mutation_p.R57Q NM_004547 NP_004538 O95168 NDUB4_HUMAN NADH dehydrogenase (ubiquinone) 1 beta 57 mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity 0 GBM - Glioblastoma multiforme(114;0.14) NADH(DB00157) CCCAACCGCCGAGGGCTCATC 0.632 NA 4 17 0 0 0 0 GOLGB1 2804 broad.mit.edu 37 3 121414936 121414936 + Silent SNP T T C TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr3:121414936T>C uc003eei.3 - 13 4545 c.4419A>G c.(4417-4419)GAA>GAG p.E1473E GOLGB1_uc010hrc.2_Silent_p.E1478E|GOLGB1_uc003eej.3_Silent_p.E1439E|GOLGB1_uc011bjm.1_Silent_p.E1359E|GOLGB1_uc010hrd.1_Silent_p.E1437E NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 1473 Cytoplasmic (Potential).|Potential. Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) CTCTACTTTCTTCTCCAATCT 0.393 NA 42 223 0 0 0 0 TMEM22 80723 broad.mit.edu 37 3 136573801 136573801 + Nonsense_Mutation SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr3:136573801C>T uc003erf.3 + 2 713 c.499C>T c.(499-501)CGA>TGA p.R167* TMEM22_uc003erg.3_Nonsense_Mutation_p.R167*|TMEM22_uc010hub.2_Nonsense_Mutation_p.R167* NM_001097600 NP_001091069 Q8TBE7 TMM22_HUMAN transmembrane protein 22 167 DUF6 1. Golgi apparatus|integral to membrane ovary(1) 1 ATACAGATTACGACTCTTCTT 0.408 NA 34 160 0 0 0 0 AGTR1 185 broad.mit.edu 37 3 148459339 148459339 + Missense_Mutation SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr3:148459339G>A uc003ewg.2 + 4 963 c.517G>A c.(517-519)GAG>AAG p.E173K AGTR1_uc003ewh.2_Missense_Mutation_p.E173K|AGTR1_uc003ewi.2_Missense_Mutation_p.E173K|AGTR1_uc003ewj.2_Missense_Mutation_p.E173K|AGTR1_uc003ewk.2_Missense_Mutation_p.E173K NM_031850 NP_114038 P30556 AGTR1_HUMAN angiotensin II receptor, type 1 173 Extracellular (Potential). calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity 0 LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152) Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177) ATTTTTCATTGAGAACACCAA 0.443 NA 25 85 0 0 0 0 VEPH1 79674 broad.mit.edu 37 3 157146114 157146114 + Silent SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr3:157146114G>A uc003fbj.1 - 5 1010 c.693C>T c.(691-693)CTC>CTT p.L231L VEPH1_uc003fbk.1_Silent_p.L231L|VEPH1_uc010hvu.1_Silent_p.L231L NM_024621 NP_078897 Q14D04 MELT_HUMAN ventricular zone expressed PH domain homolog 1 231 plasma membrane breast(3)|ovary(1)|lung(1) 5 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) TTTTTACCTCGAGTTGTTTTT 0.438 NA 6 69 0 0 0 0 IFT80 57560 broad.mit.edu 37 3 160099354 160099354 + Missense_Mutation SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr3:160099354G>A uc011boy.1 - 3 629 c.196C>T c.(196-198)CCA>TCA p.P66S IFT80_uc003fda.2_Intron|IFT80_uc003fdb.1_5'UTR|IFT80_uc003fdd.1_5'UTR|IFT80_uc003fde.1_5'UTR NM_020800 NP_065851 Q9P2H3 IFT80_HUMAN WD repeat domain 56 66 cilium axoneme|microtubule basal body ovary(1) 1 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) AAACTTTTTGGAAACCAGTGA 0.358 NA 9 51 0 0 0 0 ABCC5 10057 broad.mit.edu 37 3 183707045 183707045 + Missense_Mutation SNP T T C TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr3:183707045T>C uc003fmg.2 - 3 421 c.256A>G c.(256-258)AGT>GGT p.S86G ABCC5_uc011bqt.1_5'UTR|ABCC5_uc010hxl.2_Missense_Mutation_p.S86G|ABCC5_uc003fmh.2_Missense_Mutation_p.S86G|ABCC5_uc010hxm.2_RNA|ABCC5_uc010hxn.2_Missense_Mutation_p.S86G|ABCC5_uc010hxo.2_Missense_Mutation_p.S86G NM_005688 NP_005679 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C, member 5 86 integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(2)|large_intestine(1)|central_nervous_system(1) 4 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TTCAGAGCACTCAAGCCATGA 0.473 NA 28 17 0 0 0 0 BOD1L 259282 broad.mit.edu 37 4 13603813 13603813 + Missense_Mutation SNP T T A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr4:13603813T>A uc003gmz.1 - 10 4828 c.4711A>T c.(4711-4713)AAT>TAT p.N1571Y BOD1L_uc010idr.1_Missense_Mutation_p.N908Y NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1571 DNA binding ovary(5)|breast(1) 6 AGAGGATTATTTCTGGAATGT 0.468 NA 5 19 0 0 0 0 GPR125 166647 broad.mit.edu 37 4 22517230 22517230 + Missense_Mutation SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr4:22517230C>T uc003gqm.1 - 1 443 c.178G>A c.(178-180)GAG>AAG p.E60K GPR125_uc003gqo.2_Missense_Mutation_p.E60K NM_145290 NP_660333 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 precursor 60 Extracellular (Potential). neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity skin(1) 1 Breast(46;0.198) ACCTTGCCCTCGGCGGCGCCC 0.572 NA 11 11 0 0 0 0 PDS5A 23244 broad.mit.edu 37 4 39843630 39843630 + Missense_Mutation SNP C C G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr4:39843630C>G uc003guv.3 - 31 4135 c.3595G>C c.(3595-3597)GAG>CAG p.E1199Q PDS5A_uc010ifo.2_Missense_Mutation_p.E1159Q NM_001100399 NP_001093869 Q29RF7 PDS5A_HUMAN PDS5, regulator of cohesion maintenance, homolog 1199 cell division|mitosis|negative regulation of DNA replication chromatin|nucleus identical protein binding 0 ACAGGGTTCTCTTCATTTTCA 0.343 NA 4 41 0 0 0 0 DCAF4L1 285429 broad.mit.edu 37 4 41984115 41984115 + Silent SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr4:41984115C>T uc003gwk.2 + 1 403 c.306C>T c.(304-306)ATC>ATT p.I102I NM_001029955 NP_001025126 Q3SXM0 DC4L1_HUMAN WD repeat domain 21B 102 skin(1) 1 ACGGCATCATCAGCCTGCGAA 0.557 NA 17 42 0 0 0 0 SHISA3 152573 broad.mit.edu 37 4 42403210 42403210 + Silent SNP C C G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr4:42403210C>G uc003gwp.2 + 2 677 c.459C>G c.(457-459)ACC>ACG p.T153T NM_001080505 NP_001073974 A0PJX4 SHSA3_HUMAN shisa homolog 3 precursor 153 Cytoplasmic (Potential). multicellular organismal development endoplasmic reticulum membrane|integral to membrane ovary(1)|skin(1) 2 TGACCTCCACCAGCCCCAGGG 0.647 NA 30 108 0 0 0 0 CHIC2 26511 broad.mit.edu 37 4 54880271 54880271 + Missense_Mutation SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr4:54880271C>T uc003haj.1 - 4 667 c.346G>A c.(346-348)GAG>AAG p.E116K PDGFRA_uc003haa.2_Intron NM_012110 NP_036242 Q9UKJ5 CHIC2_HUMAN cysteine-rich hydrophobic domain 2 116 plasma membrane protein binding central_nervous_system(1) 1 all_cancers(7;0.0193)|all_neural(26;0.0209)|Lung NSC(11;0.0281)|Glioma(25;0.08) LUSC - Lung squamous cell carcinoma(32;0.00216) AATAACTTCTCAATCGATCTT 0.403 NA T ETV6 AML 10 19 0 0 0 0 TMPRSS11F 389208 broad.mit.edu 37 4 68925156 68925156 + Missense_Mutation SNP C C G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr4:68925156C>G uc003hdt.1 - 9 1095 c.1046G>C c.(1045-1047)AGA>ACA p.R349T LOC550112_uc003hdl.3_Intron|uc011cak.1_Intron NM_207407 NP_997290 Q6ZWK6 TM11F_HUMAN transmembrane protease, serine 11F 349 Peptidase S1.|Extracellular (Potential). proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity ovary(1) 1 GGTTTCCACTCTGGCTTGCCG 0.358 NA 12 21 0 0 0 0 NDST4 64579 broad.mit.edu 37 4 115769459 115769459 + Missense_Mutation SNP G G C TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr4:115769459G>C uc003ibu.2 - 9 2531 c.1852C>G c.(1852-1854)CCT>GCT p.P618A NDST4_uc010imw.2_RNA NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN heparan sulfate N-deacetylase/N-sulfotransferase 618 Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity skin(3)|ovary(1) 4 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) ATGATTGAAGGATGCATAAGA 0.308 NA 4 60 0 0 0 0 QRFPR 84109 broad.mit.edu 37 4 122250496 122250496 + Missense_Mutation SNP C C A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr4:122250496C>A uc010inj.1 - 6 1648 c.1269G>T c.(1267-1269)GAG>GAT p.E423D QRFPR_uc010ink.1_RNA|QRFPR_uc003ids.2_3'UTR NM_198179 NP_937822 Q96P65 QRFPR_HUMAN G protein-coupled receptor 103 423 Cytoplasmic (Potential). plasma membrane neuropeptide Y receptor activity 0 AAGGAGAATTCTCAGCCAGTT 0.368 NA 23 55 1.11e-12 1.89e-12 1 0 HPGD 3248 broad.mit.edu 37 4 175414436 175414436 + Silent SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr4:175414436C>T uc003itu.2 - 6 718 c.528G>A c.(526-528)GTG>GTA p.V176V HPGD_uc003itt.2_Silent_p.V43V|HPGD_uc003itv.2_Intron|HPGD_uc011ckf.1_Silent_p.V55V|HPGD_uc010irp.2_Silent_p.V55V|HPGD_uc010irq.2_Intron|HPGD_uc011ckg.1_Silent_p.V108V|HPGD_uc011ckh.1_Silent_p.V55V NM_000860 NP_000851 P15428 PGDH_HUMAN hydroxyprostaglandin dehydrogenase 15-(NAD) 176 female pregnancy|lipoxygenase pathway|negative regulation of cell cycle|parturition|prostaglandin metabolic process|transforming growth factor beta receptor signaling pathway cytosol|nucleus 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|NAD+ binding|prostaglandin E receptor activity|protein homodimerization activity 0 Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196) all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253) NADH(DB00157) CATTCAGTCTCACACCACTGT 0.363 NA 9 45 0 0 0 0 ADAM29 11086 broad.mit.edu 37 4 175897135 175897135 + Silent SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr4:175897135C>T uc003iuc.2 + 5 1129 c.459C>T c.(457-459)GAC>GAT p.D153D ADAM29_uc003iud.2_Silent_p.D153D|ADAM29_uc010irr.2_Silent_p.D153D|ADAM29_uc011cki.1_Silent_p.D153D NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 preproprotein 153 proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1) 16 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) ACAAGATGGACAGTGAGGAGA 0.363 NA 19 67 0 0 0 0 SNX25 83891 broad.mit.edu 37 4 186231908 186231908 + Missense_Mutation SNP C C A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr4:186231908C>A uc003ixh.2 + 7 979 c.790C>A c.(790-792)CCT>ACT p.P264T SNX25_uc010ish.2_Missense_Mutation_p.P35T NM_031953 NP_114159 Q9H3E2 SNX25_HUMAN sorting nexin 25 264 cell communication|protein transport endosome membrane phosphatidylinositol binding|signal transducer activity ovary(2)|breast(2)|pancreas(1) 5 all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228) CCTGGGAGGCCCTGCCTATGA 0.512 NA 14 80 4.15e-12 7.07e-12 1 0 ANKRD37 353322 broad.mit.edu 37 4 186318369 186318369 + Silent SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr4:186318369G>A uc003ixm.2 + 2 331 c.93G>A c.(91-93)AAG>AAA p.K31K LRP2BP_uc011ckr.1_5'Flank|ANKRD37_uc011cks.1_Silent_p.K31K NM_181726 NP_859077 Q7Z713 ANR37_HUMAN ankyrin repeat domain 37 31 ANK 2. cytoplasm|nucleus 0 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;1.27e-25)|Epithelial(43;1.02e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.14e-11)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000118)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|COAD - Colon adenocarcinoma(29;0.00939)|READ - Rectum adenocarcinoma(43;0.155) ATCCCTGCAAGCAGTCGCCTG 0.592 NA 14 73 0 0 0 0 FAT1 2195 broad.mit.edu 37 4 187630110 187630110 + Missense_Mutation SNP G G C TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr4:187630110G>C uc003izf.2 - 2 1060 c.872C>G c.(871-873)TCT>TGT p.S291C FAT1_uc010iso.1_Missense_Mutation_p.S291C NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 291 Extracellular (Potential). actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 GATGCTTAAAGATGCTATGTC 0.488 NA HNSCC(5;0.00058) 20 173 0 0 0 0 DNAH5 1767 broad.mit.edu 37 5 13901432 13901432 + Missense_Mutation SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr5:13901432G>A uc003jfd.2 - 14 2023 c.1981C>T c.(1981-1983)CGC>TGC p.R661C NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 661 Stem (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) TTGTAACTGCGAATTATAGGT 0.532 NA Kartagener_syndrome 16 30 0 0 0 0 CDH9 1007 broad.mit.edu 37 5 26881405 26881405 + Missense_Mutation SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr5:26881405G>A uc003jgs.1 - 12 2379 c.2210C>T c.(2209-2211)ACG>ATG p.T737M CDH9_uc011cnv.1_Missense_Mutation_p.T330M NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 737 Cytoplasmic (Potential). 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 ATAGGCATACGTTGCCAGCGA 0.423 NA 29 72 0 0 0 0 PRLR 5618 broad.mit.edu 37 5 35086419 35086419 + Missense_Mutation SNP C C G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr5:35086419C>G uc003jjm.2 - 4 624 c.94G>C c.(94-96)GAG>CAG p.E32Q PRLR_uc003jjg.1_Missense_Mutation_p.E32Q|PRLR_uc003jjh.1_Missense_Mutation_p.E32Q|PRLR_uc003jji.1_Intron|PRLR_uc003jjj.1_Missense_Mutation_p.E32Q|PRLR_uc003jjk.1_Intron|PRLR_uc003jjl.3_Intron|PRLR_uc010iuw.1_5'UTR NM_000949 NP_000940 P16471 PRLR_HUMAN prolactin receptor precursor 32 Fibronectin type-III 1.|Extracellular (Potential). activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity ovary(2)|skin(1) 3 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) TTAAAGATCTCAGGTTTTCCA 0.448 NA 16 55 0 0 0 0 PAIP1 10605 broad.mit.edu 37 5 43539127 43539127 + Missense_Mutation SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr5:43539127C>T uc003job.2 - 5 992 c.745G>A c.(745-747)GAA>AAA p.E249K PAIP1_uc003joa.2_Missense_Mutation_p.E170K|PAIP1_uc010ivp.2_Missense_Mutation_p.E170K|PAIP1_uc010ivo.2_Intron|PAIP1_uc003joc.2_Missense_Mutation_p.E137K NM_006451 NP_006442 Q9H074 PAIP1_HUMAN poly(A) binding protein interacting protein 1 249 MIF4G. mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation cytosol protein binding|RNA binding|translation activator activity ovary(1) 1 Lung NSC(6;2.07e-05) ACTTCATATTCAGTCCGACAT 0.333 NA 21 54 0 0 0 0 SNX18 112574 broad.mit.edu 37 5 53814496 53814496 + Silent SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr5:53814496C>T uc003jpj.3 + 1 904 c.714C>T c.(712-714)TCC>TCT p.S238S SNX18_uc011cqg.1_Silent_p.S238S|SNX18_uc003jpi.3_Silent_p.S238S NM_052870 NP_443102 Q96RF0 SNX18_HUMAN sorting nexin 18 isoform b 238 cell communication|endocytosis|positive regulation of GTPase activity|protein transport endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane phosphatidylinositol binding|protein binding 0 Lung NSC(810;3.46e-05)|Breast(144;0.102) TCGTCAAGTCCGGCGGGGAGG 0.706 NA 20 45 0 0 0 0 ANKRD34B 340120 broad.mit.edu 37 5 79854712 79854712 + Nonsense_Mutation SNP G G C TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr5:79854712G>C uc010jam.2 - 4 1477 c.1127C>G c.(1126-1128)TCA>TGA p.S376* ANKRD34B_uc003kgw.2_Nonsense_Mutation_p.S376*|ANKRD34B_uc010jan.2_Nonsense_Mutation_p.S376* NM_001004441 NP_001004441 A5PLL1 AN34B_HUMAN ankyrin repeat domain 34B 376 cytoplasm|nucleus pancreas(1) 1 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36) AAGGCCAGCTGAGAGCTGGGA 0.438 NA 6 39 0 0 0 0 TTC37 9652 broad.mit.edu 37 5 94842673 94842673 + Silent SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr5:94842673G>A uc003klb.2 - 30 3327 c.3057C>T c.(3055-3057)TAC>TAT p.Y1019Y NM_014639 NP_055454 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 1019 binding ovary(3)|pancreas(1) 4 TTGCAACATTGTAAGTATCTT 0.323 NA 15 32 0 0 0 0 LNPEP 4012 broad.mit.edu 37 5 96320825 96320825 + Missense_Mutation SNP C C G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr5:96320825C>G uc003kmv.1 + 3 1416 c.902C>G c.(901-903)TCT>TGT p.S301C LNPEP_uc003kmw.1_Missense_Mutation_p.S287C NM_005575 NP_005566 Q9UIQ6 LCAP_HUMAN leucyl/cystinyl aminopeptidase isoform 1 301 Extracellular (Potential). S -> L (in Ref. 6; AA sequence). cell-cell signaling|female pregnancy|proteolysis extracellular region|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(3)|breast(1) 4 all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244) COAD - Colon adenocarcinoma(37;0.072) GCAGCAAGATCTGCTTTTCCT 0.303 NA 22 87 0 0 0 0 NRG2 9542 broad.mit.edu 37 5 139231379 139231379 + Missense_Mutation SNP T T A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr5:139231379T>A uc003lex.1 - 9 1807 c.1582A>T c.(1582-1584)AGC>TGC p.S528C NRG2_uc003lev.1_Missense_Mutation_p.S536C|NRG2_uc003lew.1_Missense_Mutation_p.S530C|NRG2_uc003ley.1_Missense_Mutation_p.S522C NM_004883 NP_004874 O14511 NRG2_HUMAN neuregulin 2 isoform 1 528 Cytoplasmic (Potential). embryo development extracellular region|integral to membrane|plasma membrane growth factor activity pancreas(2)|breast(2)|ovary(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAAGTCAGGCTCTCAGAACGT 0.632 NA 7 32 0 0 0 0 PCDHA5 56143 broad.mit.edu 37 5 140203557 140203557 + Missense_Mutation SNP C C T rs140039635 TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr5:140203557C>T uc003lhl.2 + 1 2197 c.2197C>T c.(2197-2199)CGG>TGG p.R733W PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.R733W|PCDHA5_uc003lhj.1_Missense_Mutation_p.R733W NM_018908 NP_061731 Q9Y5H7 PCDA5_HUMAN protocadherin alpha 5 isoform 1 precursor 733 Cytoplasmic (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(1)|breast(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTGTGCACACGGGGCAAGCC 0.662 NA 15 33 0 0 0 0 PCDHB1 29930 broad.mit.edu 37 5 140433131 140433131 + Silent SNP C C A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr5:140433131C>A uc003lik.1 + 1 2153 c.2076C>A c.(2074-2076)GTC>GTA p.V692V NM_013340 NP_037472 Q9Y5F3 PCDB1_HUMAN protocadherin beta 1 precursor 692 Helical; (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AATATTTGGTCATTTCTCTGG 0.388 NA 22 82 1.97e-08 3.31e-08 1 0 PCDHGA5 56110 broad.mit.edu 37 5 140746180 140746180 + Silent SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr5:140746180G>A uc003lju.1 + 1 2283 c.2283G>A c.(2281-2283)GCG>GCA p.A761A PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Silent_p.A761A NM_018918 NP_061741 Q9Y5G8 PCDG5_HUMAN protocadherin gamma subfamily A, 5 isoform 1 761 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCTCACCGCGGACTCGAGGA 0.592 NA 13 136 0 0 0 0 PCDHGB6 56100 broad.mit.edu 37 5 140789449 140789449 + Silent SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr5:140789449G>A uc003lkj.1 + 1 1680 c.1680G>A c.(1678-1680)CCG>CCA p.P560P 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_uc003lki.1_Silent_p.P560P NM_018926 NP_061749 Q9Y5F9 PCDGI_HUMAN protocadherin gamma subfamily B, 6 isoform 1 560 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAACGCACCGCGGGTGCTGT 0.662 NA 6 22 0 0 0 0 SPARC 6678 broad.mit.edu 37 5 151052775 151052775 + Silent SNP T T C TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr5:151052775T>C uc003luh.2 - 3 147 c.123A>G c.(121-123)GTA>GTG p.V41V GM2A_uc011dcs.1_Intron|SPARC_uc003lug.2_5'UTR|SPARC_uc003lui.2_Silent_p.V41V NM_003118 NP_003109 P09486 SPRC_HUMAN secreted protein, acidic, cysteine-rich 41 Asp/Glu-rich (acidic; binds calcium). ossification|platelet activation|platelet degranulation|signal transduction basement membrane|extracellular space|platelet alpha granule lumen calcium ion binding|collagen binding central_nervous_system(1) 1 Medulloblastoma(196;0.109)|all_hematologic(541;0.122) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) OV - Ovarian serous cystadenocarcinoma(192;0.00118) Becaplermin(DB00102) CTCCCACAGATACCTGGAATT 0.522 NA 34 67 0 0 0 0 HK3 3101 broad.mit.edu 37 5 176308467 176308467 + Silent SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr5:176308467G>A uc003mfa.2 - 18 2555 c.2463C>T c.(2461-2463)GAC>GAT p.D821D HK3_uc003mez.2_Silent_p.D377D NM_002115 NP_002106 P52790 HXK3_HUMAN hexokinase 3 821 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1) 7 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCATCAGGGCGTCATCTGAGG 0.652 NA 9 17 0 0 0 0 FLT4 2324 broad.mit.edu 37 5 180057046 180057046 + Missense_Mutation SNP C C A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr5:180057046C>A uc003mma.3 - 5 652 c.573G>T c.(571-573)ATG>ATT p.M191I FLT4_uc003mlz.3_Missense_Mutation_p.M191I|FLT4_uc003mmb.1_5'Flank|FLT4_uc011dgy.1_Missense_Mutation_p.M191I|FLT4_uc011dgz.1_Missense_Mutation_p.M191I|FLT4_uc011dha.1_Missense_Mutation_p.C175F NM_002020 NP_002011 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 isoform 2 191 Ig-like C2-type 2.|Extracellular (Potential). positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1) 15 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) TGGACACGAGCATGCCCCGCC 0.637 NA Congenital_Hereditary_Lymphedema 7 29 1.59e-06 2.65e-06 1 0 SSR1 6745 broad.mit.edu 37 6 7301699 7301699 + Missense_Mutation SNP G G T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr6:7301699G>T uc003mxf.3 - 4 575 c.387C>A c.(385-387)GAC>GAA p.D129E SSR1_uc003mxg.3_Intron|SSR1_uc010jny.2_Missense_Mutation_p.D129E NM_003144 NP_003135 P43307 SSRA_HUMAN signal sequence receptor, alpha precursor 129 Lumenal (Potential). cotranslational protein targeting to membrane|positive regulation of cell proliferation endoplasmic reticulum membrane|integral to membrane signal sequence binding 0 Ovarian(93;0.0398) AAAACTGGTAGTCCTGAGGAT 0.428 NA 23 57 3.8e-18 6.54e-18 1 0 OR10C1 442194 broad.mit.edu 37 6 29407891 29407891 + Silent SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr6:29407891C>T uc011dlp.1 + 1 99 c.99C>T c.(97-99)ATC>ATT p.I33I OR11A1_uc010jrh.1_Intron NM_013941 NP_039229 Q96KK4 O10C1_HUMAN olfactory receptor, family 10, subfamily C, 33 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TTCTCACTATCTACCTGCTGA 0.557 NA 31 59 0 0 0 0 NRM 11270 broad.mit.edu 37 6 30658649 30658649 + Missense_Mutation SNP G G C TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr6:30658649G>C uc003nrc.2 - 1 121 c.103C>G c.(103-105)CTT>GTT p.L35V KIAA1949_uc003nrb.3_5'Flank|NRM_uc003nrd.2_RNA|NRM_uc003nre.2_5'UTR NM_007243 NP_009174 Q8IXM6 NRM_HUMAN nurim 35 Perinuclear space (Potential). integral to membrane|nuclear inner membrane 0 ATCCCTCCAAGAAGTGGCCGA 0.642 NA 21 47 0 0 0 0 CYP21A2 1589 broad.mit.edu 37 6 32007955 32007955 + Silent SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr6:32007955C>T uc003nze.1 + 7 1030 c.912C>T c.(910-912)GCC>GCT p.A304A CYP21A2_uc003nzf.1_Silent_p.A274A NM_000500 NP_000491 P08686 CP21A_HUMAN cytochrome P450, family 21, subfamily A, 303 glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding 0 TCTCCTGGGCCGTGGTTTTTT 0.617 NA 30 111 0 0 0 0 FKBPL 63943 broad.mit.edu 37 6 32097359 32097359 + Missense_Mutation SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr6:32097359C>T uc003nzr.2 - 2 469 c.199G>A c.(199-201)GAA>AAA p.E67K ATF6B_uc003nzo.2_5'Flank|ATF6B_uc003nzn.2_5'Flank|ATF6B_uc011dpg.1_5'Flank|ATF6B_uc011dph.1_5'Flank NM_022110 NP_071393 Q9UIM3 FKBPL_HUMAN WAF-1/CIP1 stabilizing protein 39 67 response to radiation membrane|nucleus FK506 binding|peptidyl-prolyl cis-trans isomerase activity 0 ACCAGTTTTTCAGCTCCTTGA 0.512 NA 11 66 0 0 0 0 DNAH8 1769 broad.mit.edu 37 6 38821072 38821072 + Missense_Mutation SNP C C G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr6:38821072C>G uc003ooe.1 + 39 5631 c.5031C>G c.(5029-5031)ATC>ATG p.I1677M NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 TCTATCAAATCAGTGATTCAG 0.368 NA 19 32 0 0 0 0 BYSL 705 broad.mit.edu 37 6 41900357 41900357 + Silent SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr6:41900357C>T uc003orl.2 + 7 1563 c.1227C>T c.(1225-1227)CCC>CCT p.P409P NM_004053 NP_004044 Q13895 BYST_HUMAN bystin 409 cell adhesion|female pregnancy|ribosome biogenesis cytoplasm|nucleolus 0 Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GGCTGCAGCCCCATCCACAGC 0.587 NA 12 64 0 0 0 0 SENP6 26054 broad.mit.edu 37 6 76344432 76344433 + Nonsense_Mutation DNP GC GC TT TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr6:76344432_76344433GC>TT uc003pid.3 + 5 982_983 c.363_364GC>TT c.(361-366)ACGCAA>ACTTAA p.Q122* SENP6_uc003pie.3_Nonsense_Mutation_p.Q122*|SENP6_uc003pic.2_Nonsense_Mutation_p.Q122*|SENP6_uc003pif.1_Nonsense_Mutation_p.Q13* NM_015571 NP_056386 Q9GZR1 SENP6_HUMAN SUMO1/sentrin specific peptidase 6 isoform 1 122 proteolysis cytoplasm|nucleus cysteine-type peptidase activity breast(2)|urinary_tract(1)|ovary(1)|lung(1)|skin(1) 6 all_hematologic(105;0.189) GTGAAAATACGCAAAATACGTC 0.322 NA 8 17 0 0 0 0 PREP 5550 broad.mit.edu 37 6 105816838 105816838 + Missense_Mutation SNP C C A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr6:105816838C>A uc003prc.2 - 6 860 c.657G>T c.(655-657)CAG>CAT p.Q219H NM_002726 NP_002717 P48147 PPCE_HUMAN prolyl endopeptidase 219 proteolysis serine-type endopeptidase activity ovary(3) 3 all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202) Oxytocin(DB00107) TATCTTCTGACTGATCGGTTC 0.418 NA 23 33 5.35e-11 9.07e-11 1 0 FRK 2444 broad.mit.edu 37 6 116265528 116265528 + Missense_Mutation SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr6:116265528G>A uc003pwi.1 - 6 1466 c.1019C>T c.(1018-1020)TCT>TTT p.S340F NM_002031 NP_002022 P42685 FRK_HUMAN fyn-related kinase 340 Protein kinase. negative regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding ovary(3)|lung(3) 6 all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465) all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625) GGCCATTCCAGAGGCAACCTG 0.418 NA 10 40 0 0 0 0 GRM1 2911 broad.mit.edu 37 6 146720758 146720758 + Silent SNP C C T rs148042148 TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr6:146720758C>T uc010khw.1 + 8 3053 c.2583C>T c.(2581-2583)GGC>GGT p.G861G GRM1_uc010khv.1_Silent_p.G861G|GRM1_uc003qll.2_Silent_p.G861G|GRM1_uc011edz.1_Silent_p.G861G|GRM1_uc011eea.1_Silent_p.G861G NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 861 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) TGCATGTTGGCGATGGCAAGC 0.517 NA 12 25 0 0 0 0 TAB2 23118 broad.mit.edu 37 6 149699950 149699950 + Missense_Mutation SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr6:149699950C>T uc003qmj.2 + 3 1077 c.899C>T c.(898-900)TCA>TTA p.S300L TAB2_uc011eec.1_Missense_Mutation_p.S268L|TAB2_uc010kia.1_Missense_Mutation_p.S300L|TAB2_uc010kib.1_Missense_Mutation_p.S300L|TAB2_uc003qmk.3_RNA NM_015093 NP_055908 Q9NYJ8 TAB2_HUMAN mitogen-activated protein kinase kinase kinase 7 300 activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane K63-linked polyubiquitin binding|zinc ion binding 0 ACCATTCATTCATCTGGTAGC 0.433 NA 9 82 0 0 0 0 SYNE1 23345 broad.mit.edu 37 6 152737810 152737810 + Missense_Mutation SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr6:152737810G>A uc010kiw.2 - 41 6364 c.5762C>T c.(5761-5763)TCT>TTT p.S1921F SYNE1_uc003qot.3_Missense_Mutation_p.S1928F|SYNE1_uc003qou.3_Missense_Mutation_p.S1921F|SYNE1_uc010kjb.1_Missense_Mutation_p.S1904F NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1921 Cytoplasmic (Potential).|Potential. cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GACGGCAGCAGATTCTAATGC 0.453 NA HNSCC(10;0.0054) 21 46 0 0 0 0 PDE10A 10846 broad.mit.edu 37 6 165792780 165792780 + Missense_Mutation SNP T T A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr6:165792780T>A uc003qun.2 - 19 2099 c.1858A>T c.(1858-1860)ATC>TTC p.I620F PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.I550F|PDE10A_uc003quo.2_Missense_Mutation_p.I630F NM_006661 NP_006652 Q9Y233 PDE10_HUMAN phosphodiesterase 10A isoform 2 620 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) GTGGCAATGATGGCTTTGCGG 0.413 NA 7 41 0 0 0 0 SFRP4 6424 broad.mit.edu 37 7 37956080 37956080 + Silent SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr7:37956080G>A uc003tfo.3 - 1 446 c.60C>T c.(58-60)CGC>CGT p.R20R NM_003014 NP_003005 Q6FHJ7 SFRP4_HUMAN secreted frizzled-related protein 4 precursor 20 FZ. brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway cell surface|cytoplasm|extracellular space|nucleus PDZ domain binding|Wnt receptor activity|Wnt-protein binding lung(1) 1 AGGGCGCGCCGCGCACGCCCA 0.682 NA 19 32 0 0 0 0 ABCA13 154664 broad.mit.edu 37 7 48318187 48318187 + Missense_Mutation SNP C C G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr7:48318187C>G uc003toq.2 + 18 7421 c.7396C>G c.(7396-7398)CTA>GTA p.L2466V ABCA13_uc010kys.1_5'Flank NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 2466 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 TTCATTCCCTCTAAGAAACAG 0.358 NA 12 129 0 0 0 0 WBSCR17 64409 broad.mit.edu 37 7 70853278 70853278 + Missense_Mutation SNP C C G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr7:70853278C>G uc003tvy.2 + 3 480 c.480C>G c.(478-480)TTC>TTG p.F160L WBSCR17_uc003tvz.2_5'UTR NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN UDP-GalNAc:polypeptide 160 Catalytic subdomain A.|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) TATTCATCTTCGTGAACGAGG 0.527 NA 6 67 0 0 0 0 PCLO 27445 broad.mit.edu 37 7 82475906 82475906 + Missense_Mutation SNP T T A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr7:82475906T>A uc003uhx.2 - 12 14097 c.13808A>T c.(13807-13809)GAA>GTA p.E4603V PCLO_uc003uhv.2_Missense_Mutation_p.E4603V|PCLO_uc003uht.1_Missense_Mutation_p.E54V|PCLO_uc003uhu.1_Missense_Mutation_p.E33V NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 4491 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 CTCATGAAGTTCCAGATGCTG 0.338 NA 19 17 0 0 0 0 RUNDC3B 154661 broad.mit.edu 37 7 87258202 87258202 + Missense_Mutation SNP G G C TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr7:87258202G>C uc003ujb.2 + 1 474 c.63G>C c.(61-63)AAG>AAC p.K21N ABCB1_uc003uiz.1_Intron|ABCB1_uc003uja.1_Intron|ABCB1_uc010lei.1_Intron|RUNDC3B_uc011khd.1_Missense_Mutation_p.K21N|RUNDC3B_uc011khe.1_Missense_Mutation_p.K21N|RUNDC3B_uc003ujc.2_Missense_Mutation_p.K21N NM_138290 NP_612147 Q96NL0 RUN3B_HUMAN RUN domain containing 3B isoform a 21 skin(1) 1 Esophageal squamous(14;0.00164) GAGGCGGCAAGAAAAGCCTGA 0.716 NA 4 11 0 0 0 0 CYP3A7 1551 broad.mit.edu 37 7 99306662 99306662 + Missense_Mutation SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr7:99306662C>T uc003uru.2 - 11 1354 c.1249G>A c.(1249-1251)GAA>AAA p.E417K ZNF498_uc003urn.2_Intron|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron NM_000765 NP_000756 P24462 CP3A7_HUMAN cytochrome P450, family 3, subfamily A, 417 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1) 1 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) TCCTACCTTTCAGGGAGGAAC 0.512 NA 18 89 0 0 0 0 MUC17 140453 broad.mit.edu 37 7 100676630 100676630 + Missense_Mutation SNP G G C TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr7:100676630G>C uc003uxp.1 + 3 1986 c.1933G>C c.(1933-1935)GAG>CAG p.E645Q MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 645 Extracellular (Potential).|8.|59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) GGCCAGTTCTGAGGCTAGCAC 0.483 NA 115 469 0 0 0 0 C7orf66 154907 broad.mit.edu 37 7 108524578 108524578 + Silent SNP C C G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr7:108524578C>G uc003vfo.2 - 1 60 c.12G>C c.(10-12)GTG>GTC p.V4V NM_001024607 NP_001019778 A4D0T2 CG066_HUMAN hypothetical protein LOC154907 4 integral to membrane ovary(2) 2 TGGGTGTCATCACAGCCATCA 0.413 NA 3 54 0 0 0 0 C7orf58 79974 broad.mit.edu 37 7 120764400 120764400 + Missense_Mutation SNP G G C TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr7:120764400G>C uc003vjq.3 + 8 1381 c.934G>C c.(934-936)GAG>CAG p.E312Q C7orf58_uc003vjr.1_Missense_Mutation_p.E312Q|C7orf58_uc003vjs.3_Missense_Mutation_p.E312Q|C7orf58_uc003vjt.3_Missense_Mutation_p.E92Q|C7orf58_uc010lkk.1_Missense_Mutation_p.E92Q NM_024913 NP_079189 A4D0V7 CG058_HUMAN hypothetical protein LOC79974 isoform 1 312 endoplasmic reticulum ovary(4)|large_intestine(2)|skin(2)|pancreas(1) 9 all_neural(327;0.117) AACATTTTTTGAGACATTCCT 0.393 NA 16 53 0 0 0 0 FSCN3 29999 broad.mit.edu 37 7 127240328 127240328 + Missense_Mutation SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr7:127240328G>A uc003vmd.1 + 6 1591 c.1372G>A c.(1372-1374)GAG>AAG p.E458K FSCN3_uc011koh.1_Missense_Mutation_p.R322Q|FSCN3_uc010llc.1_Missense_Mutation_p.R456Q NM_020369 NP_065102 Q9NQT6 FSCN3_HUMAN fascin 3 458 actin cytoskeleton|cytoplasm actin filament binding|protein binding, bridging ovary(1) 1 CTTCTGTATCGAGCTTCAGGG 0.537 NA 6 59 0 0 0 0 LRGUK 136332 broad.mit.edu 37 7 133812362 133812362 + Missense_Mutation SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr7:133812362G>A uc003vrm.1 + 1 258 c.242G>A c.(241-243)GGC>GAC p.G81D NM_144648 NP_653249 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain 81 ATP binding|kinase activity lung(2)|skin(2)|kidney(1) 5 GAGGACCAGGGCGAGGGCGAG 0.612 NA 7 40 0 0 0 0 KIAA1549 57670 broad.mit.edu 37 7 138603487 138603487 + Silent SNP G G A rs79934303 by1000genomes TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr7:138603487G>A uc011kql.1 - 2 934 c.885C>T c.(883-885)GAC>GAT p.D295D KIAA1549_uc003vuk.3_Silent_p.D245D|KIAA1549_uc011kqj.1_Silent_p.D295D NM_020910 NP_065961 Q9HCM3 K1549_HUMAN hypothetical protein LOC57670 isoform 1 295 integral to membrane KIAA1549/BRAF(229) central_nervous_system(229)|pancreas(1) 230 TAGTAATGCCGTCGCCTAACG 0.537 NA O BRAF pilocytic astrocytoma 16 54 0 0 0 0 PARP12 64761 broad.mit.edu 37 7 139727113 139727113 + Nonsense_Mutation SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr7:139727113G>A uc003vvl.1 - 10 2465 c.1591C>T c.(1591-1593)CGA>TGA p.R531* PARP12_uc003vvk.1_Nonsense_Mutation_p.R317*|PARP12_uc010lnf.1_RNA NM_022750 NP_073587 Q9H0J9 PAR12_HUMAN poly ADP-ribose polymerase 12 531 PARP catalytic. nucleus NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding ovary(3) 3 Melanoma(164;0.0142) TTCTGTACTCGCTCAATCTTC 0.537 NA 5 42 0 0 0 0 ADCK2 90956 broad.mit.edu 37 7 140373236 140373236 + Missense_Mutation SNP G G T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr7:140373236G>T uc003vvy.1 + 1 284 c.106G>T c.(106-108)GAT>TAT p.D36Y ADCK2_uc003vvz.2_Missense_Mutation_p.D36Y NM_052853 NP_443085 Q7Z695 ADCK2_HUMAN aarF domain containing kinase 2 36 integral to membrane ATP binding|protein serine/threonine kinase activity 0 Melanoma(164;0.00956) GTGCCCTCGCGATGCCAGGCT 0.677 NA 6 12 0.00116845 0.00188516 1 0 KEL 3792 broad.mit.edu 37 7 142643301 142643301 + Missense_Mutation SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr7:142643301C>T uc003wcb.2 - 11 1517 c.1307G>A c.(1306-1308)CGA>CAA p.R436Q NM_000420 NP_000411 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 436 Extracellular (Potential). proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(3)|central_nervous_system(1) 4 Melanoma(164;0.059) TACAGCACTTCGGGTGCTCGG 0.577 NA 8 11 0 0 0 0 CSMD1 64478 broad.mit.edu 37 8 3267046 3267046 + Missense_Mutation SNP G G T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr8:3267046G>T uc011kwk.1 - 13 2036 c.1646C>A c.(1645-1647)ACA>AAA p.T549K CSMD1_uc011kwj.1_5'UTR NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 549 Extracellular (Potential).|Sushi 3. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AAAGGTGAGTGTATCTCCATG 0.527 NA 4 5 0.000602214 0.000976066 1 0 DEFA4 1669 broad.mit.edu 37 8 6794410 6794410 + Missense_Mutation SNP G G C rs61749084 byFrequency TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr8:6794410G>C uc003wqu.1 - 2 63 c.12C>G c.(10-12)ATC>ATG p.I4M NM_001925 NP_001916 P12838 DEF4_HUMAN defensin, alpha 4 preproprotein 4 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space large_intestine(1) 1 COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) CGAGGAGGGCGATAATCCTCA 0.622 NA 4 9 0 0 0 0 KIF13B 23303 broad.mit.edu 37 8 28974435 28974435 + Silent SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr8:28974435G>A uc003xhh.3 - 31 3809 c.3750C>T c.(3748-3750)ATC>ATT p.I1250I uc003xhi.1_Intron NM_015254 NP_056069 Q9NQT8 KI13B_HUMAN kinesin family member 13B 1250 microtubule-based movement|protein targeting|signal transduction|T cell activation cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding 0 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) TCACGCGCACGATCAGGAACA 0.602 NA 26 63 0 0 0 0 IKBKB 3551 broad.mit.edu 37 8 42179657 42179657 + Missense_Mutation SNP C C G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr8:42179657C>G uc003xow.1 + 18 2001 c.1824C>G c.(1822-1824)ATC>ATG p.I608M IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Missense_Mutation_p.I385M|IKBKB_uc003xox.1_Missense_Mutation_p.I329M|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Missense_Mutation_p.I606M|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Missense_Mutation_p.I549M NM_001556 NP_001547 O14920 IKKB_HUMAN inhibitor of nuclear factor kappa B kinase beta 608 anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft ATP binding|identical protein binding|IkappaB kinase activity breast(3)|ovary(2)|lung(1)|skin(1) 7 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264) Arsenic trioxide(DB01169)|Auranofin(DB00995) TGCGAGTGATCTATACGCAGC 0.557 NA 8 63 0 0 0 0 MOS 4342 broad.mit.edu 37 8 57025647 57025648 + Missense_Mutation DNP GG GG AA TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr8:57025647_57025648GG>AA uc011leb.1 - 1 894_895 c.894_895CC>TT c.(892-897)TCCCTC>TCTTTC p.L299F NM_005372 NP_005363 P00540 MOS_HUMAN v-mos Moloney murine sarcoma viral oncogene 299 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity lung(2)|ovary(1)|central_nervous_system(1) 4 Epithelial(17;0.00117)|all cancers(17;0.00879) GCAGCGGAGAGGGACGGGCGCA 0.683 NA 9 31 0 0 0 0 MYBL1 4603 broad.mit.edu 37 8 67514655 67514655 + Missense_Mutation SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr8:67514655C>T uc003xwj.2 - 2 531 c.124G>A c.(124-126)GAG>AAG p.E42K MYBL1_uc003xwl.2_Missense_Mutation_p.E42K|MYBL1_uc003xwk.2_Missense_Mutation_p.E42K NM_001080416 NP_001073885 P10243 MYBA_HUMAN v-myb myeloblastosis viral oncogene homolog 42 HTH myb-type 1. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1) 3 Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938) ATAATTACCTCGTCCCTTGTC 0.308 NA 16 45 0 0 0 0 CSPP1 79848 broad.mit.edu 37 8 68007843 68007843 + Missense_Mutation SNP C C T rs114953032 by1000genomes TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr8:68007843C>T uc003xxi.2 + 8 962 c.931C>T c.(931-933)CGT>TGT p.R311C CSPP1_uc003xxg.1_Missense_Mutation_p.R303C|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.R276C|CSPP1_uc003xxk.2_5'UTR NM_001077204 NP_001070672 Q1MSJ5 CSPP1_HUMAN centrosome spindle pole associated protein 1 311 centrosome|microtubule|spindle ovary(3)|breast(2) 5 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) TAATGAGGATCGTGTTTTTGA 0.373 NA 6 34 0 0 0 0 PRDM14 63978 broad.mit.edu 37 8 70964454 70964454 + Missense_Mutation SNP G G C TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr8:70964454G>C uc003xym.2 - 8 1776 c.1574C>G c.(1573-1575)TCT>TGT p.S525C NM_024504 NP_078780 Q9GZV8 PRD14_HUMAN PR domain containing 14 525 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) GGATGCAAAAGATTTACCACA 0.517 NA 19 121 0 0 0 0 ZFHX4 79776 broad.mit.edu 37 8 77775694 77775694 + Silent SNP T T C TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr8:77775694T>C uc003yav.2 + 11 9996 c.9609T>C c.(9607-9609)AAT>AAC p.N3203N NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 3199 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) CATTACAGAATGCAATTGCTG 0.443 NA HNSCC(33;0.089) 39 134 0 0 0 0 CNGB3 54714 broad.mit.edu 37 8 87645041 87645041 + Missense_Mutation SNP A A G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr8:87645041A>G uc003ydx.2 - 11 1305 c.1259T>C c.(1258-1260)ATT>ACT p.I420T CNGB3_uc010maj.2_Missense_Mutation_p.I282T NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 420 Helical; Name=H5; (Potential). signal transduction|visual perception integral to membrane cGMP binding ovary(2)|pancreas(1) 3 TTGAAAAACAATTTCAAATAA 0.353 NA 14 19 0 0 0 0 CNGB3 54714 broad.mit.edu 37 8 87738776 87738776 + Silent SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr8:87738776C>T uc003ydx.2 - 3 367 c.321G>A c.(319-321)GGG>GGA p.G107G NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 107 Cytoplasmic (Potential). G -> R (in ACHM3; uncertain pathogenicity). signal transduction|visual perception integral to membrane cGMP binding ovary(2)|pancreas(1) 3 GACCTTCTTTCCCGGGGTCCA 0.453 NA 64 241 0 0 0 0 OSGIN2 734 broad.mit.edu 37 8 90937360 90937360 + Missense_Mutation SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr8:90937360C>T uc003yeg.2 + 6 1464 c.1118C>T c.(1117-1119)TCT>TTT p.S373F OSGIN2_uc003yeh.2_Missense_Mutation_p.S417F NM_004337 NP_004328 Q9Y236 OSGI2_HUMAN oxidative stress induced growth inhibitor family 373 germ cell development|meiosis 0 BRCA - Breast invasive adenocarcinoma(11;0.0344) AATCTTTTATCTGATTATACC 0.358 NA 14 152 0 0 0 0 CSMD3 114788 broad.mit.edu 37 8 113364752 113364752 + Missense_Mutation SNP C C A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr8:113364752C>A uc003ynu.2 - 39 6307 c.6148G>T c.(6148-6150)GAT>TAT p.D2050Y CSMD3_uc003yns.2_Missense_Mutation_p.D1252Y|CSMD3_uc003ynt.2_Missense_Mutation_p.D2010Y|CSMD3_uc011lhx.1_Missense_Mutation_p.D1946Y NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2050 Extracellular (Potential).|Sushi 11. 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 GGACAGGAATCCAAACCAATT 0.318 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 10 70 2.18e-05 3.62e-05 1 0 ZFAT 57623 broad.mit.edu 37 8 135612760 135612760 + Silent SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr8:135612760C>T uc003yup.2 - 7 2569 c.2394G>A c.(2392-2394)CTG>CTA p.L798L ZFAT_uc003yun.2_Silent_p.L786L|ZFAT_uc003yuo.2_Silent_p.L786L|ZFAT_uc010meh.2_Silent_p.L786L|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Silent_p.L786L|ZFAT_uc010mej.2_Silent_p.L736L|ZFAT_uc003yur.2_Silent_p.L786L|ZFATAS_uc003yus.1_RNA NM_020863 NP_065914 Q9P243 ZFAT_HUMAN zinc finger protein 406 isoform ZFAT-1 798 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) TGGGACACTTCAGCAAGATGT 0.438 NA 26 109 0 0 0 0 RHPN1 114822 broad.mit.edu 37 8 144464817 144464817 + Missense_Mutation SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr8:144464817C>T uc003yyb.2 + 15 2142 c.2009C>T c.(2008-2010)CCG>CTG p.P670L NM_052924 NP_443156 Q8TCX5 RHPN1_HUMAN rhophilin 1 695 signal transduction intracellular large_intestine(1) 1 all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156) CCAGGGTGGCCGTGAGGGCCA 0.687 NA 16 14 0 0 0 0 PLEC 5339 broad.mit.edu 37 8 144996395 144996395 + Missense_Mutation SNP C C G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr8:144996395C>G uc003zaf.1 - 32 8175 c.8005G>C c.(8005-8007)GAG>CAG p.E2669Q PLEC_uc003zab.1_Missense_Mutation_p.E2532Q|PLEC_uc003zac.1_Missense_Mutation_p.E2536Q|PLEC_uc003zad.2_Missense_Mutation_p.E2532Q|PLEC_uc003zae.1_Missense_Mutation_p.E2500Q|PLEC_uc003zag.1_Missense_Mutation_p.E2510Q|PLEC_uc003zah.2_Missense_Mutation_p.E2518Q|PLEC_uc003zaj.2_Missense_Mutation_p.E2559Q NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 2669 Central fibrous rod domain.|Potential. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 tgctgctCCTCACGCAGCTGC 0.517 NA 3 12 0 0 0 0 PSIP1 11168 broad.mit.edu 37 9 15469058 15469058 + Splice_Site SNP T T C TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr9:15469058T>C uc003zlv.3 - 13 1435 c.1105_splice c.e13-1 p.D369_splice PSIP1_uc003zlw.3_Splice_Site_p.D369_splice NM_033222 NP_150091 O75475 PSIP1_HUMAN PC4 and SFRS1 interacting protein 1 isoform 2 initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|nucleoplasm|transcriptionally active chromatin activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity breast(1) 1 GBM - Glioblastoma multiforme(50;2.38e-06) GTTCACATCCTTCATGACAAA 0.353 NA 11 18 0 0 0 0 DCAF12 25853 broad.mit.edu 37 9 34098412 34098412 + Missense_Mutation SNP G G C TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr9:34098412G>C uc003ztt.2 - 5 1047 c.705C>G c.(703-705)ATC>ATG p.I235M NM_015397 NP_056212 Q5T6F0 DCA12_HUMAN DDB1 and CUL4 associated factor 12 235 centrosome|CUL4 RING ubiquitin ligase complex 0 CCTTGTGAGTGATGTGTGCAT 0.483 NA 7 108 0 0 0 0 C9orf79 286234 broad.mit.edu 37 9 90502856 90502856 + Missense_Mutation SNP A A G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr9:90502856A>G uc004app.3 + 4 3489 c.3454A>G c.(3454-3456)ACC>GCC p.T1152A NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN chromosome 9 open reading frame 79 1152 integral to membrane ovary(3) 3 CCCTCTGTCCACCTCCCAGAG 0.642 NA 8 32 0 0 0 0 KIAA1529 57653 broad.mit.edu 37 9 100136864 100136864 + Missense_Mutation SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr9:100136864G>A uc011lut.1 + 47 5962 c.5189G>A c.(5188-5190)CGA>CAA p.R1730Q KIAA1529_uc004axe.1_Missense_Mutation_p.R1536Q|KIAA1529_uc004axg.1_Missense_Mutation_p.R1591Q|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Missense_Mutation_p.R684Q NM_020893 NP_065944 hypothetical protein LOC57653 ovary(4)|large_intestine(2)|skin(1) 7 Acute lymphoblastic leukemia(62;0.154) ATGCTCATACGAAGGAAACTC 0.507 NA 4 22 0 0 0 0 SVEP1 79987 broad.mit.edu 37 9 113169482 113169482 + Missense_Mutation SNP C C G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr9:113169482C>G uc010mtz.2 - 38 8735 c.8398G>C c.(8398-8400)GAG>CAG p.E2800Q SVEP1_uc010mty.2_Missense_Mutation_p.E726Q NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 2800 Sushi 23. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 GGGTCACACTCATAGTACAAC 0.483 NA 76 52 0 0 0 0 LAMC3 10319 broad.mit.edu 37 9 133957539 133957539 + Missense_Mutation SNP G G C TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr9:133957539G>C uc004caa.1 + 24 4119 c.4021G>C c.(4021-4023)GAT>CAT p.D1341H LAMC3_uc010mze.1_Missense_Mutation_p.D57H NM_006059 NP_006050 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 precursor 1341 Domain II and I. cell adhesion basement membrane|membrane structural molecule activity ovary(2)|pancreas(1) 3 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) TCTGCTGGCTGATCTGGAAGG 0.617 NA 13 5 0 0 0 0 C9orf96 169436 broad.mit.edu 37 9 136253248 136253248 + Silent SNP C C G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr9:136253248C>G uc004cdk.2 + 5 373 c.312C>G c.(310-312)CTC>CTG p.L104L C9orf96_uc004cdl.2_RNA NM_153710 NP_714921 Q8NE28 SGK71_HUMAN hypothetical protein LOC169436 104 Protein kinase. ATP binding|protein kinase activity stomach(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) CTCTGTACCTCTGCCTGGTGA 0.572 NA 12 55 0 0 0 0 PHPT1 29085 broad.mit.edu 37 9 139744530 139744530 + Missense_Mutation SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr9:139744530G>A uc004cjp.2 + 3 848 c.226G>A c.(226-228)GGC>AGC p.G76S PHPT1_uc011mei.1_Missense_Mutation_p.G76S|PHPT1_uc004cjq.3_Missense_Mutation_p.G76S|MAMDC4_uc004cjs.2_5'Flank|MAMDC4_uc011mej.1_5'Flank NM_014172 NP_054891 Q9NRX4 PHP14_HUMAN phosphohistidine phosphatase 1 isoform 3 76 cytosol phosphohistidine phosphatase activity|phosphoprotein phosphatase activity 0 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) GTGTCTGGGCGGCGGGCGCAT 0.647 NA 47 20 0 0 0 0 C8G 733 broad.mit.edu 37 9 139840948 139840948 + Silent SNP G G C TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr9:139840948G>C uc004cka.2 + 5 561 c.486G>C c.(484-486)CTG>CTC p.L162L FBXW5_uc004cjx.2_5'Flank|FBXW5_uc004cjy.2_5'Flank|FBXW5_uc004cjz.2_5'Flank NM_000606 NP_000597 P07360 CO8G_HUMAN complement component 8, gamma polypeptide 162 complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex retinol binding|transporter activity 0 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.19) OV - Ovarian serous cystadenocarcinoma(145;7.88e-06)|Epithelial(140;0.000107) ACTCGGTCCTGAGTGGGTTTG 0.657 NA 3 19 0 0 0 0 RNF208 727800 broad.mit.edu 37 9 140115259 140115259 + Missense_Mutation SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr9:140115259C>T uc004clz.1 - 1 517 c.406G>A c.(406-408)GCG>ACG p.A136T NM_031297 NP_112587 Q9H0X6 RN208_HUMAN ring finger protein 208 136 zinc ion binding 0 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) TCGCCTGCCGCCGCCGAAGAA 0.672 NA 23 11 0 0 0 0 ASMTL 8623 broad.mit.edu 37 X 1554652 1554652 + Splice_Site SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chrX:1554652C>T uc004cpx.1 - 4 385 c.274_splice c.e4-1 p.T92_splice ASMTL_uc011mhe.1_Intron|ASMTL_uc004cpy.1_Splice_Site_p.T76_splice|ASMTL_uc011mhf.1_Splice_Site_p.T34_splice NM_004192 NP_004183 O95671 ASML_HUMAN acetylserotonin O-methyltransferase-like melatonin biosynthetic process cytoplasm acetylserotonin O-methyltransferase activity 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CCCCGACTGTCTGTGAGAGGA 0.587 NA 11 69 0 0 0 0 CNKSR2 22866 broad.mit.edu 37 X 21545080 21545080 + Silent SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chrX:21545080C>T uc004czx.1 + 10 1089 c.1053C>T c.(1051-1053)CTC>CTT p.L351L CNKSR2_uc004czw.2_Silent_p.L351L|CNKSR2_uc011mjn.1_Silent_p.L302L|CNKSR2_uc011mjo.1_Silent_p.L351L|CNKSR2_uc004czy.2_5'UTR NM_014927 NP_055742 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 351 DUF1170. regulation of signal transduction cytoplasm|membrane protein binding large_intestine(1)|lung(1) 2 TCCAGGATCTCTACATTCCCC 0.483 NA 16 137 0 0 0 0 MID1IP1 58526 broad.mit.edu 37 X 38664680 38664680 + Missense_Mutation SNP C C G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chrX:38664680C>G uc004dei.3 + 3 905 c.481C>G c.(481-483)CTC>GTC p.L161V MID1IP1_uc010ngz.2_Missense_Mutation_p.L161V|MID1IP1_uc004dej.3_Missense_Mutation_p.L161V NM_001098790 NP_001092260 Q9NPA3 M1IP1_HUMAN MID1 interacting G12-like protein 161 lipid biosynthetic process|negative regulation of microtubule depolymerization|positive regulation of fatty acid biosynthetic process|positive regulation of ligase activity|protein polymerization cytosol|microtubule|nucleus 0 GCTCTCGAAACTCACGCGCAA 0.627 NA 11 7 0 0 0 0 ATP6AP2 10159 broad.mit.edu 37 X 40456555 40456555 + Missense_Mutation SNP G G C TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chrX:40456555G>C uc004det.2 + 4 457 c.355G>C c.(355-357)GAG>CAG p.E119Q ATP6AP2_uc010nhc.2_RNA|ATP6AP2_uc011mkl.1_Missense_Mutation_p.E43Q|ATP6AP2_uc011mkm.1_Intron|ATP6AP2_uc011mkn.1_Intron|ATP6AP2_uc004deu.1_5'Flank NM_005765 NP_005756 O75787 RENR_HUMAN ATPase, H+ transporting, lysosomal accessory 119 Extracellular (Potential). angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade external side of plasma membrane|integral to membrane protein binding|receptor activity 0 CTTATTTTCTGAGGAAACTCC 0.323 NA 8 21 0 0 0 0 UBA1 7317 broad.mit.edu 37 X 47074277 47074277 + Silent SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chrX:47074277C>T uc004dhj.3 + 26 3277 c.3126C>T c.(3124-3126)GAC>GAT p.D1042D UBA1_uc004dhk.3_Silent_p.D1042D|UBA1_uc004dhm.2_Silent_p.D490D NM_153280 NP_695012 P22314 UBA1_HUMAN ubiquitin-activating enzyme E1 1042 cell death|protein modification process ATP binding|ligase activity|protein binding|small protein activating enzyme activity ovary(1) 1 GCTGTAACGACGAGAGCGGCG 0.627 NA 23 16 0 0 0 0 UBQLN2 29978 broad.mit.edu 37 X 56591223 56591223 + Missense_Mutation SNP A A T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chrX:56591223A>T uc004dus.2 + 1 1152 c.917A>T c.(916-918)CAG>CTG p.Q306L UBQLN2_uc011moq.1_Missense_Mutation_p.Q306L NM_013444 NP_038472 Q9UHD9 UBQL2_HUMAN ubiquilin 2 306 cytoplasm|nucleus|plasma membrane binding ovary(1)|skin(1) 2 GAAGGTACGCAGCCTTCCCGC 0.562 NA 11 3 0 0 0 0 ARR3 407 broad.mit.edu 37 X 69489243 69489243 + Missense_Mutation SNP A A C TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chrX:69489243A>C uc004dyb.2 + 2 76 c.8A>C c.(7-9)AAG>ACG p.K3T ARR3_uc004dya.2_Missense_Mutation_p.K3T NM_004312 NP_004303 P36575 ARRC_HUMAN arrestin 3, retinal (X-arrestin) 3 signal transduction|visual perception cytoplasm|soluble fraction large_intestine(2)|ovary(2) 4 AACATGTCCAAGTAAGAATTC 0.423 NA 11 5 0 0 0 0 PGAM4 441531 broad.mit.edu 37 X 77224532 77224532 + Missense_Mutation SNP C C G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chrX:77224532C>G uc004ecy.1 - 1 604 c.604G>C c.(604-606)GAA>CAA p.E202Q ATP7A_uc004ecw.2_Intron|ATP7A_uc004ecx.3_Intron NM_001029891 NP_001025062 Q8N0Y7 PGAM4_HUMAN bisphosphoglycerate mutase 4 202 glycolysis 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity 0 ATAGCCTCTTCAGAGAGACCC 0.512 NA 4 179 0 0 0 0 NAP1L3 4675 broad.mit.edu 37 X 92927456 92927456 + Missense_Mutation SNP C C G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chrX:92927456C>G uc004efq.2 - 1 1153 c.848G>C c.(847-849)AGA>ACA p.R283T FAM133A_uc004efr.1_5'Flank NM_004538 NP_004529 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 283 nucleosome assembly chromatin assembly complex ovary(1)|skin(1) 2 CTCAGGAACTCTTTTATGAGT 0.453 NA 3 87 0 0 0 0 TCEAL4 79921 broad.mit.edu 37 X 102842017 102842017 + Silent SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chrX:102842017C>T uc004ekl.2 + 3 707 c.414C>T c.(412-414)CTC>CTT p.L138L TCEAL4_uc004ekn.2_Silent_p.L138L|TCEAL4_uc004ekm.2_Silent_p.L138L|TCEAL4_uc004eko.2_Silent_p.L138L NM_024863 NP_079139 Q96EI5 TCAL4_HUMAN transcription elongation factor A (SII)-like 4 138 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 CTCATTACCTCAAGGAGTATA 0.433 NA 11 117 0 0 0 0 PLP1 5354 broad.mit.edu 37 X 103041526 103041526 + Silent SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chrX:103041526C>T uc010nov.2 + 4 604 c.324C>T c.(322-324)ATC>ATT p.I108I RAB9B_uc004eli.1_Intron|PLP1_uc004elk.2_Silent_p.I108I|PLP1_uc004elj.2_Silent_p.I108I|PLP1_uc011msf.1_Silent_p.I53I|PLP1_uc010now.1_Silent_p.I112I|PLP1_uc010nox.2_Silent_p.I62I NM_001128834 NP_001122306 P60201 MYPR_HUMAN proteolipid protein 1 isoform 1 108 Cytoplasmic (Probable). cell death|synaptic transmission integral to membrane ovary(1) 1 AGACCACCATCTGCGGCAAGG 0.582 NA 12 110 0 0 0 0 SERPINA7 6906 broad.mit.edu 37 X 105280474 105280474 + Silent SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chrX:105280474G>A uc004eme.1 - 1 592 c.576C>T c.(574-576)CTC>CTT p.L192L SERPINA7_uc010npd.2_Silent_p.L192L|SERPINA7_uc010npe.1_Silent_p.L192L NM_000354 NP_000345 P05543 THBG_HUMAN serine (or cysteine) proteinase inhibitor, clade 192 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity 0 Levothyroxine(DB00451)|Liothyronine(DB00279) TGTTTGGCTTGAGGTCTTGAA 0.418 NA 18 103 0 0 0 0 CHRDL1 91851 broad.mit.edu 37 X 109922601 109922601 + Silent SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chrX:109922601C>T uc004eou.3 - 11 1558 c.1209G>A c.(1207-1209)GAG>GAA p.E403E CHRDL1_uc004eov.2_Silent_p.E392E|CHRDL1_uc004eow.2_Silent_p.E401E|CHRDL1_uc010nps.2_Silent_p.E402E|CHRDL1_uc004eot.2_Silent_p.E322E|CHRDL1_uc011mss.1_Silent_p.E317E NM_001143981 NP_001137453 Q9BU40 CRDL1_HUMAN chordin-like 1 isoform 1 precursor 395 BMP signaling pathway|cell differentiation|nervous system development|ossification extracellular region 0 AGTGAGGAAGCTCCTCAAACA 0.453 NA 45 15 0 0 0 0 GPC4 2239 broad.mit.edu 37 X 132548982 132548982 + Silent SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chrX:132548982G>A uc004exc.1 - 1 224 c.12C>T c.(10-12)TTC>TTT p.F4F GPC4_uc011mvg.1_5'Flank NM_001448 NP_001439 O75487 GPC4_HUMAN glypican 4 precursor 4 anatomical structure morphogenesis|cell proliferation anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding 0 Acute lymphoblastic leukemia(192;0.000127) CGGGCAAGCCGAACCGTGCCA 0.701 NA 7 20 0 0 0 0 ATP2B3 492 broad.mit.edu 37 X 152845713 152845713 + Missense_Mutation SNP C C G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chrX:152845713C>G uc004fht.1 + 20 3746 c.3620C>G c.(3619-3621)TCC>TGC p.S1207C ATP2B3_uc004fhs.1_3'UTR|ATP2B3_uc010nuf.1_Missense_Mutation_p.S344C|ATP2B3_uc004fhu.1_Missense_Mutation_p.S159C NM_001001344 NP_001001344 Q16720 AT2B3_HUMAN plasma membrane calcium ATPase 3 isoform 3b 1207 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding pancreas(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GTGTTTTCCTCCAGTCCCGGG 0.473 NA 3 75 0 0 0 0 KDM5D 8284 broad.mit.edu 37 Y 21877710 21877710 + Missense_Mutation SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chrY:21877710G>A uc004fug.2 - 16 2500 c.2212C>T c.(2212-2214)CGG>TGG p.R738W KDM5D_uc011naz.1_Missense_Mutation_p.R769W|KDM5D_uc010nwy.2_Missense_Mutation_p.R681W|KDM5D_uc011nba.1_Missense_Mutation_p.R738W|KDM5D_uc004fuf.2_5'Flank NM_004653 NP_004644 Q9BY66 KDM5D_HUMAN jumonji, AT rich interactive domain 1D isoform 738 chromatin modification|spermatogenesis nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding skin(1) 1 Vitamin C(DB00126) CATGCTCACCGGAGGTACTGT 0.552 NA 67 9 0 0 0 0 NSUN4 387338 broad.mit.edu 37 1 46826430 46826430 + Frame_Shift_Del DEL A A - TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr1:46826430delA uc001cpr.1 + 5 917 c.808delA c.(808-810)AACfs p.N270fs NSUN4_uc010omc.1_Frame_Shift_Del_p.N221fs|NSUN4_uc009vyf.1_Frame_Shift_Del_p.N119fs|NSUN4_uc009vyg.1_Frame_Shift_Del_p.N221fs|NSUN4_uc001cpt.1_RNA|NSUN4_uc001cps.1_RNA NM_199044 NP_950245 Q96CB9 NSUN4_HUMAN NOL1/NOP2/Sun domain family 4 protein 270 methyltransferase activity 0 Acute lymphoblastic leukemia(166;0.155) TGAGGAGGAGAACAACATCTT 0.473 NA 41 80 --- --- --- --- NA NA NA NA NELL1 4745 broad.mit.edu 37 11 21592401 21592402 + Frame_Shift_Ins INS - - A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr11:21592401_21592402insA uc001mqe.2 + 18 2225_2226 c.2072_2073insA c.(2071-2073)ACAfs p.T691fs NELL1_uc001mqf.2_Frame_Shift_Ins_p.T644fs|NELL1_uc009yid.2_Frame_Shift_Ins_p.T719fs|NELL1_uc010rdo.1_Frame_Shift_Ins_p.T634fs|NELL1_uc010rdp.1_Frame_Shift_Ins_p.T404fs|NELL1_uc001mqh.2_Frame_Shift_Ins_p.T236fs NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor 691 cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 ACCAGAGTCACAAGTCAATGTT 0.47 NA 61 104 --- --- --- --- NA NA NA NA MS4A6E 245802 broad.mit.edu 37 11 60107412 60107418 + Frame_Shift_Del DEL GGAAACA GGAAACA - TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr11:60107412_60107418delGGAAACA uc001npd.2 + 3 442_448 c.428_434delGGAAACA c.(427-435)TGGAAACAGfs p.W143fs NM_139249 NP_640342 Q96DS6 M4A6E_HUMAN membrane-spanning 4-domains, subfamily A, member 143_145 Cytoplasmic (Potential). integral to membrane receptor activity 0 GTGCTGCAGTGGAAACAGACTGTCTGA 0.478 NA 22 99 --- --- --- --- NA NA NA NA ACIN1 22985 broad.mit.edu 37 14 23528491 23528491 + Frame_Shift_Del DEL C C - TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr14:23528491delC uc001wit.3 - 19 4220 c.3892delG c.(3892-3894)GACfs p.D1298fs CDH24_uc001wil.2_5'Flank|CDH24_uc010akf.2_5'Flank|CDH24_uc001win.3_5'Flank|ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Frame_Shift_Del_p.D540fs|ACIN1_uc001wiq.3_Frame_Shift_Del_p.D540fs|ACIN1_uc001wir.3_Frame_Shift_Del_p.D571fs|ACIN1_uc001wis.3_Frame_Shift_Del_p.D979fs|ACIN1_uc010akg.2_Frame_Shift_Del_p.D1285fs NM_014977 NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 1298 Arg/Asp/Glu/Lys-rich. apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding ovary(2)|large_intestine(1)|skin(1) 4 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) TCCCccctgtcccgctccctt 0.478 NA OREG0022595 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 32 --- --- --- --- NA NA NA NA TFG 10342 broad.mit.edu 37 3 100463757 100463758 + Frame_Shift_Ins INS - - A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr3:100463757_100463758insA uc003due.2 + 7 1251_1252 c.802_803insA c.(802-804)TATfs p.Y268fs TFG_uc003duf.2_Frame_Shift_Ins_p.Y268fs|TFG_uc003dug.2_Frame_Shift_Ins_p.Y264fs|TFG_uc003duh.2_Frame_Shift_Ins_p.Y264fs|TFG_uc003dui.2_Frame_Shift_Ins_p.Y268fs NM_006070 NP_006061 Q92734 TFG_HUMAN TRK-fused 268 positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm signal transducer activity TFG/ALK(7) haematopoietic_and_lymphoid_tissue(7)|lung(2)|large_intestine(1)|prostate(1) 11 GCCTCAACAGTATGGTATTCAG 0.455 NA T NTRK1|ALK papillary thyroid|ALCL|NSCLC 70 83 --- --- --- --- NA NA NA NA POLR2B 5431 broad.mit.edu 37 4 57896492 57896492 + Frame_Shift_Del DEL T T - TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr4:57896492delT uc003hcl.1 + 24 3405 c.3362delT c.(3361-3363)CTTfs p.L1121fs POLR2B_uc011cae.1_Frame_Shift_Del_p.L1114fs|POLR2B_uc011caf.1_Frame_Shift_Del_p.L1046fs|POLR2B_uc003hcm.1_Frame_Shift_Del_p.L614fs NM_000938 NP_000929 P30876 RPB2_HUMAN DNA directed RNA polymerase II polypeptide B 1121 C4-type. mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding ovary(2) 2 Glioma(25;0.08)|all_neural(26;0.181) GTTTGCAATCTTTGTGGAATA 0.448 NA 16 51 --- --- --- --- NA NA NA NA FAT1 2195 broad.mit.edu 37 4 187628386 187628386 + Frame_Shift_Del DEL C C - TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d4bdd75-d967-40b2-b55d-99e59cc7e125 31d97fa4-4f9b-4753-99ea-73b8cd1e4efc g.chr4:187628386delC uc003izf.2 - 2 2784 c.2596delG c.(2596-2598)GACfs p.D866fs FAT1_uc010iso.1_Frame_Shift_Del_p.D866fs NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 866 Extracellular (Potential).|Cadherin 7. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 GAAAATGTGTCTGTGTCTGTA 0.493 NA HNSCC(5;0.00058) 21 32 --- --- --- --- NA NA NA NA