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 MRPL20 55052 broad.mit.edu 37 1 1341194 1341194 + Missense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr1:1341194C>G uc001afo.3 - 3 367 c.271G>C c.(271-273)GTT>CTT p.V91L MRPL20_uc010nyn.1_Missense_Mutation_p.V91L NM_017971 NP_060441 Q9BYC9 RM20_HUMAN mitochondrial ribosomal protein L20 precursor 91 protein binding|rRNA binding 0 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) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) CATACCTTAACTAAATTCCCA 0.333 NA 40 130 0 0 0 0 SPEN 23013 broad.mit.edu 37 1 16261424 16261424 + Missense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr1:16261424C>G uc001axk.1 + 11 8893 c.8689C>G c.(8689-8691)CCT>GCT p.P2897A SPEN_uc010obp.1_Missense_Mutation_p.P2856A NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 2897 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) TAATGCCTCTCCTGTGATTTC 0.582 NA 9 42 0 0 0 0 UBR4 23352 broad.mit.edu 37 1 19451151 19451151 + Missense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr1:19451151G>C uc001bbi.2 - 65 9476 c.9472C>G c.(9472-9474)CAG>GAG p.Q3158E UBR4_uc001bbk.1_Missense_Mutation_p.Q805E NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 3158 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) GTTAGAAGCTGAGTATAGGCC 0.428 NA 11 58 0 0 0 0 UBR4 23352 broad.mit.edu 37 1 19453067 19453067 + Nonsense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr1:19453067G>C uc001bbi.2 - 64 9315 c.9311C>G c.(9310-9312)TCA>TGA p.S3104* UBR4_uc001bbk.1_Nonsense_Mutation_p.S751* NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 3104 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TTCCAGCAGTGATTTGAGCAC 0.537 NA 39 124 0 0 0 0 HTR6 3362 broad.mit.edu 37 1 19992627 19992627 + Silent SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr1:19992627C>G uc001bcl.2 + 1 848 c.381C>G c.(379-381)CTC>CTG p.L127L NM_000871 NP_000862 P50406 5HT6R_HUMAN 5-hydroxytryptamine (serotonin) receptor 6 127 Cytoplasmic (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane histamine receptor activity|protein binding ovary(1) 1 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;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144) GCTACCTGCTCATCCTCTCGC 0.687 NA 8 102 0 0 0 0 CLIC4 25932 broad.mit.edu 37 1 25153552 25153552 + Silent SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr1:25153552C>T uc001bjo.2 + 4 645 c.360C>T c.(358-360)GAC>GAT p.D120D CLIC4_uc001bjn.2_RNA|CLIC4_uc001bjp.1_Silent_p.D100D NM_013943 NP_039234 Q9Y696 CLIC4_HUMAN chloride intracellular channel 4 120 GST C-terminal. cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction voltage-gated chloride channel activity 0 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18) CTGGAATGGACATCTTTGCCA 0.333 NA 16 143 0 0 0 0 KIAA0319L 79932 broad.mit.edu 37 1 35917293 35917293 + Silent SNP G G T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr1:35917293G>T uc001byx.2 - 13 2256 c.1998C>A c.(1996-1998)ACC>ACA p.T666T KIAA0319L_uc001byw.2_Silent_p.T108T|KIAA0319L_uc010ohv.1_Silent_p.T308T NM_024874 NP_079150 Q8IZA0 K319L_HUMAN dyslexia susceptibility 2-like 666 PKD 4.|Extracellular (Potential). cytoplasmic vesicle part|integral to membrane protein binding skin(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TGACAGTCAAGGTGAACACAT 0.498 NA OREG0013354 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 44 129 1.62e-30 2.24e-30 1 0 EIF2C4 192670 broad.mit.edu 37 1 36291379 36291379 + Silent SNP G G T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr1:36291379G>T uc001bzj.1 + 5 778 c.588G>T c.(586-588)GTG>GTT p.V196V NM_017629 NP_060099 Q9HCK5 AGO4_HUMAN eukaryotic translation initiation factor 2C, 4 196 mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|cytosol protein binding|RNA binding ovary(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) ATCAGTCTGTGAGACCTGCCA 0.483 NA 42 132 1.32e-16 1.81e-16 1 0 EIF2C3 192669 broad.mit.edu 37 1 36474571 36474571 + Missense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr1:36474571C>G uc001bzp.2 + 8 1211 c.955C>G c.(955-957)CTT>GTT p.L319V EIF2C3_uc001bzq.2_Missense_Mutation_p.L85V NM_024852 NP_079128 Q9H9G7 AGO3_HUMAN eukaryotic translation initiation factor 2C, 3 319 PAZ. mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|cytosol protein binding|RNA binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) AAAGTATACTCTTCAGCTGAA 0.438 NA 10 63 0 0 0 0 GJA9 81025 broad.mit.edu 37 1 39340782 39340782 + Missense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr1:39340782G>C uc001cct.1 - 2 1270 c.989C>G c.(988-990)TCT>TGT p.S330C RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.2_5'Flank NM_030772 NP_110399 P57773 CXA9_HUMAN gap junction protein, alpha 9, 59kDa 330 Cytoplasmic (Potential). cell communication connexon complex|integral to membrane 0 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;8.23e-17) AATCTCATTAGAAAGTACAGT 0.313 NA 21 48 0 0 0 0 BMP8B 656 broad.mit.edu 37 1 40230448 40230448 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr1:40230448G>A uc001cdz.1 - 4 1091 c.715C>T c.(715-717)CGG>TGG p.R239W BMP8B_uc001cea.1_Intron NM_001720 NP_001711 P34820 BMP8B_HUMAN bone morphogenetic protein 8B preproprotein 239 cartilage development|cell differentiation|growth|ossification extracellular space cytokine activity|growth factor activity 0 all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) CGTGGGGCCCGTTGACCCAGC 0.657 NA 8 103 0 0 0 0 MFSD2A 84879 broad.mit.edu 37 1 40433512 40433512 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr1:40433512G>A uc001cev.2 + 11 1352 c.1171G>A c.(1171-1173)GAG>AAG p.E391K MFSD2A_uc010ojb.1_Missense_Mutation_p.E339K|MFSD2A_uc001ceu.2_Missense_Mutation_p.E378K|MFSD2A_uc010ojc.1_Missense_Mutation_p.E222K|MFSD2A_uc009vvy.2_Intron|MFSD2A_uc001cex.2_Missense_Mutation_p.E42K NM_001136493 NP_001129965 Q8NA29 MFS2A_HUMAN major facilitator superfamily domain containing 391 Helical; (Potential). transmembrane transport endoplasmic reticulum membrane|integral to membrane ovary(1)|pancreas(1) 2 GGCCCTCATGGAGAGTAACCT 0.542 NA 11 69 0 0 0 0 ZNF643 65243 broad.mit.edu 37 1 40928626 40928626 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr1:40928626C>T uc001cfn.1 + 5 1267 c.970C>T c.(970-972)CCG>TCG p.P324S ZNF643_uc001cfl.1_Missense_Mutation_p.P222S|ZNF643_uc001cfm.1_Missense_Mutation_p.P190S NM_023070 NP_075558 Q9UJL9 ZN643_HUMAN zinc finger protein 643 324 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;5.25e-18) ATCTCTTATTCCGCATCAGAG 0.403 NA 9 48 0 0 0 0 TIE1 7075 broad.mit.edu 37 1 43778211 43778211 + Silent SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr1:43778211C>G uc001ciu.2 + 12 1945 c.1866C>G c.(1864-1866)CTC>CTG p.L622L TIE1_uc010okd.1_Silent_p.L622L|TIE1_uc010oke.1_Silent_p.L577L|TIE1_uc009vwq.2_Silent_p.L578L|TIE1_uc010okf.1_Silent_p.L267L|TIE1_uc010okg.1_Silent_p.L267L NM_005424 NP_005415 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and 622 Fibronectin type-III 2.|Extracellular (Potential). mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity p.L622L(1) lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) ATGTGCAGCTCTACCACTGCA 0.692 NA 5 86 0 0 0 0 ZSWIM5 57643 broad.mit.edu 37 1 45671764 45671764 + Missense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr1:45671764C>G uc001cnd.2 - 1 487 c.259G>C c.(259-261)GAG>CAG p.E87Q NM_020883 NP_065934 Q9P217 ZSWM5_HUMAN zinc finger, SWIM domain containing 5 87 zinc ion binding 0 Acute lymphoblastic leukemia(166;0.155) GGGATCCGCTCGAAGCGCTCC 0.627 NA 11 36 0 0 0 0 C1orf163 65260 broad.mit.edu 37 1 53153466 53153466 + Missense_Mutation SNP C C T rs141260822 TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr1:53153466C>T uc001cui.1 - 3 662 c.622G>A c.(622-624)GAG>AAG p.E208K NM_023077 NP_075565 Q96BR5 SELR1_HUMAN hypothetical protein LOC65260 208 Sel1-like 5. binding 0 TTTAGCACCTCGGCCTTGGCC 0.532 NA 25 76 0 0 0 0 SSX2IP 117178 broad.mit.edu 37 1 85127939 85127939 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr1:85127939G>A uc001dkh.2 - 9 1144 c.869C>T c.(868-870)TCT>TTT p.S290F SSX2IP_uc001dkf.2_Missense_Mutation_p.S263F|SSX2IP_uc001dkg.2_RNA|SSX2IP_uc010orz.1_Missense_Mutation_p.S263F|SSX2IP_uc001dki.2_Missense_Mutation_p.S290F|SSX2IP_uc010osa.1_Missense_Mutation_p.S263F|SSX2IP_uc001dkj.2_Missense_Mutation_p.S290F|SSX2IP_uc009wci.2_Intron|SSX2IP_uc001dkk.1_Missense_Mutation_p.S286F NM_014021 NP_054740 Q9Y2D8 ADIP_HUMAN synovial sarcoma, X breakpoint 2 interacting 290 Potential. cell adhesion nucleus|protein complex ovary(2) 2 all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173) AGAAAGAAGAGAAATCATTTC 0.338 NA 13 122 0 0 0 0 ABCA4 24 broad.mit.edu 37 1 94512578 94512578 + Missense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr1:94512578C>G uc001dqh.2 - 19 2919 c.2815G>C c.(2815-2817)GAG>CAG p.E939Q ABCA4_uc010otn.1_Missense_Mutation_p.E865Q NM_000350 NP_000341 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A member 4 939 Cytoplasmic.|ABC transporter 1. phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1) 12 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) CCACAGGGCTCAAAAATCTTT 0.507 NA 15 236 0 0 0 0 ABCD3 5825 broad.mit.edu 37 1 94955518 94955518 + Missense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr1:94955518G>C uc001dqn.3 + 15 1411 c.1309G>C c.(1309-1311)GAT>CAT p.D437H ABCD3_uc010oto.1_Missense_Mutation_p.D461H|ABCD3_uc010otp.1_Missense_Mutation_p.D364H|ABCD3_uc009wdr.2_Missense_Mutation_p.D327H|ABCD3_uc001dqo.3_Missense_Mutation_p.D125H NM_002858 NP_002849 P28288 ABCD3_HUMAN ATP-binding cassette, sub-family D, member 3 437 peroxisomal long-chain fatty acid import|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances skin(1) 1 all_lung(203;0.000434)|Lung NSC(277;0.0019) all cancers(265;0.0261)|Epithelial(280;0.165) CATTATTGCAGATAACATTAT 0.323 NA 14 88 0 0 0 0 KCNC4 3749 broad.mit.edu 37 1 110754320 110754320 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr1:110754320G>A uc001dzh.2 + 1 256 c.199G>A c.(199-201)GAC>AAC p.D67N KCNC4_uc001dzf.2_Missense_Mutation_p.D67N|KCNC4_uc009wfr.2_Missense_Mutation_p.D67N|KCNC4_uc001dzg.2_Missense_Mutation_p.D67N|KCNC4_uc001dzi.2_RNA NM_004978 NP_004969 Q03721 KCNC4_HUMAN Shaw-related voltage-gated potassium channel 67 Cytoplasmic (Potential). synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135) CTGGCTGGCCGACCCCGACGG 0.522 NA 6 25 0 0 0 0 KCND3 3752 broad.mit.edu 37 1 112524371 112524371 + Silent SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr1:112524371G>A uc001ebu.1 - 2 1458 c.978C>T c.(976-978)TTC>TTT p.F326F KCND3_uc001ebv.1_Silent_p.F326F NM_004980 NP_004971 Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related 326 Helical; Name=Segment S5; (Potential). sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding ovary(2)|large_intestine(1) 3 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) TGGTGAGGGAGAAGAGAAGAA 0.552 NA 9 47 0 0 0 0 AP4B1 10717 broad.mit.edu 37 1 114442908 114442908 + Silent SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr1:114442908G>C uc001eeb.2 - 5 875 c.732C>G c.(730-732)CTC>CTG p.L244L uc001edv.1_RNA|AP4B1_uc001eec.2_Silent_p.L76L|AP4B1_uc001eed.2_Silent_p.L244L|AP4B1_uc010owp.1_Silent_p.L145L|AP4B1_uc001eea.1_Silent_p.L38L|AP4B1_uc010owq.1_Silent_p.L151L NM_006594 NP_006585 Q9Y6B7 AP4B1_HUMAN adaptor-related protein complex 4, beta 1 244 intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|soluble fraction|trans-Golgi network protein binding|protein transporter activity ovary(3)|central_nervous_system(1) 4 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TACTGCTCTTGAGGAAACTAT 0.473 NA 5 56 0 0 0 0 FAM46C 54855 broad.mit.edu 37 1 118166279 118166279 + Missense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr1:118166279C>G uc001ehe.2 + 2 988 c.789C>G c.(787-789)ATC>ATG p.I263M NM_017709 NP_060179 Q5VWP2 FA46C_HUMAN hypothetical protein LOC54855 263 0 Lung SC(450;0.225) all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05) Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247) AGGAAGAAATCAAAACTCTAG 0.507 NA Multiple Myeloma(3;1.13e-06) 14 38 0 0 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144952223 144952223 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr1:144952223C>T uc001elw.3 - 4 787 c.496G>A c.(496-498)GAG>AAG p.E166K NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.E232K|PDE4DIP_uc001emc.1_Missense_Mutation_p.E166K|PDE4DIP_uc001emd.1_Missense_Mutation_p.E166K|PDE4DIP_uc001emg.1_Missense_Mutation_p.E166K|PDE4DIP_uc001emh.2_Missense_Mutation_p.E303K NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 166 Potential. cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GCCAGGGCCTCAGTGTATTGG 0.522 NA T PDGFRB MPD 15 157 0 0 0 0 RPRD2 23248 broad.mit.edu 37 1 150437148 150437148 + Missense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr1:150437148G>C uc009wlr.2 + 10 1758 c.1557G>C c.(1555-1557)GAG>GAC p.E519D RPRD2_uc010pcc.1_Missense_Mutation_p.E493D|RPRD2_uc001eup.3_Missense_Mutation_p.E493D NM_015203 NP_056018 Q5VT52 RPRD2_HUMAN Regulation of nuclear pre-mRNA domain containing 519 Ser-rich. protein binding ovary(1) 1 TCACCCCAGAGAGCATTCTGT 0.517 NA OREG0013786 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 19 0 0 0 0 GOLPH3L 55204 broad.mit.edu 37 1 150636160 150636160 + Missense_Mutation SNP C C T rs150623963 TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr1:150636160C>T uc001evj.2 - 3 480 c.263G>A c.(262-264)CGA>CAA p.R88Q GOLPH3L_uc010pci.1_Intron NM_018178 NP_060648 Q9H4A5 GLP3L_HUMAN Golgi phosphoprotein 3-like 88 Golgi cisterna membrane ovary(1) 1 all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171) CAGATAGATTCGACCCCGCAT 0.502 NA 23 61 0 0 0 0 FLG 2312 broad.mit.edu 37 1 152277823 152277823 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr1:152277823G>A uc001ezu.1 - 3 9575 c.9539C>T c.(9538-9540)TCA>TTA p.S3180L NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3180 Filaggrin 19.|Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATGGTGACGTGACACTGAGTG 0.562 NA Ichthyosis 100 139 0 0 0 0 FLG2 388698 broad.mit.edu 37 1 152327869 152327870 + Missense_Mutation DNP CC CC AT TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr1:152327869_152327870CC>AT uc001ezw.3 - 3 2465_2466 c.2392_2393GG>AT c.(2392-2394)GGG>ATG p.G798M uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 798 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) TGAGCCTGACCCATGTTGTCCA 0.52 NA 43 409 0 0 0 0 CLK2 1196 broad.mit.edu 37 1 155238104 155238104 + Silent SNP T T C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr1:155238104T>C uc001fjy.2 - 5 824 c.534A>G c.(532-534)GTA>GTG p.V178V RAG1AP1_uc010pey.1_Intron|CLK2_uc001fjw.2_Silent_p.V177V|CLK2_uc001fjx.2_5'UTR|CLK2_uc009wqm.2_Silent_p.V178V NM_003993 NP_003984 P49760 CLK2_HUMAN CDC-like kinase 2 178 Protein kinase. nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CAACACATTGTACAACTCGGC 0.502 NA Other_conserved_DNA_damage_response_genes 15 51 0 0 0 0 RUSC1 23623 broad.mit.edu 37 1 155292421 155292421 + Missense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr1:155292421C>G uc001fkj.2 + 2 1086 c.857C>G c.(856-858)TCT>TGT p.S286C RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_5'Flank|C1orf104_uc001fki.2_Intron|RUSC1_uc001fkk.2_Missense_Mutation_p.S286C|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank|RUSC1_uc001fkp.2_5'Flank|RUSC1_uc001fkq.2_5'Flank|RUSC1_uc010pgb.1_5'Flank|RUSC1_uc009wqp.1_5'Flank|RUSC1_uc001fkn.2_5'Flank|RUSC1_uc001fko.2_5'Flank|RUSC1_uc001fkr.2_5'Flank|RUSC1_uc001fks.2_5'Flank NM_001105203 NP_001098673 Q9BVN2 RUSC1_HUMAN RUN and SH3 domain containing 1 isoform a 286 cytoplasm|nucleolus SH3/SH2 adaptor activity ovary(2) 2 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) ATAACTGATTCTGGCTCGAAA 0.478 NA 36 120 0 0 0 0 DAP3 7818 broad.mit.edu 37 1 155699156 155699156 + Missense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr1:155699156C>G uc001flq.2 + 9 1011 c.842C>G c.(841-843)CCG>CGG p.P281R DAP3_uc001flr.2_Missense_Mutation_p.P281R|DAP3_uc001fls.2_Missense_Mutation_p.P281R|DAP3_uc010pgl.1_Missense_Mutation_p.P240R|DAP3_uc001flt.2_Missense_Mutation_p.P247R|DAP3_uc001flu.2_Missense_Mutation_p.P254R|DAP3_uc010pgm.1_Missense_Mutation_p.P247R NM_033657 NP_387506 P51398 RT29_HUMAN death-associated protein 3 281 induction of apoptosis by extracellular signals mitochondrial ribosome|nucleolus|small ribosomal subunit protein binding ovary(1) 1 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) GATAAAAGCCCGGTAGGAAAA 0.438 NA 18 59 0 0 0 0 HSPA6 3310 broad.mit.edu 37 1 161494658 161494658 + Missense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr1:161494658C>G uc001gap.2 + 2 870 c.210C>G c.(208-210)TTC>TTG p.F70L HSPA6_uc001gaq.2_Missense_Mutation_p.F70L NM_002155 NP_002146 P17066 HSP76_HUMAN heat shock 70kDa protein 6 (HSP70B') 70 response to unfolded protein ATP binding skin(1) 1 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) ACACCGTGTTCGATGCCAAGC 0.687 NA 8 28 0 0 0 0 POGK 57645 broad.mit.edu 37 1 166819358 166819358 + Silent SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr1:166819358G>C uc001gdt.1 + 5 1662 c.1542G>C c.(1540-1542)CTG>CTC p.L514L POGK_uc010ple.1_Silent_p.L429L|POGK_uc010plf.1_Silent_p.L396L NM_017542 NP_060012 Q9P215 POGK_HUMAN pogo transposable element with KRAB domain 514 DDE. multicellular organismal development|regulation of transcription, DNA-dependent nucleus DNA binding ovary(1) 1 acaagccactgaatgacagtg 0.05 NA 4 12 0 0 0 0 TNN 63923 broad.mit.edu 37 1 175046766 175046766 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr1:175046766C>T uc001gkl.1 + 2 325 c.212C>T c.(211-213)TCG>TTG p.S71L TNN_uc010pmx.1_Missense_Mutation_p.S71L NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 71 cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GATGGGGCTTCGCTCTTGGCC 0.587 NA 10 33 0 0 0 0 GLT25D2 23127 broad.mit.edu 37 1 184006371 184006371 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr1:184006371C>T uc001gqr.2 - 1 493 c.121G>A c.(121-123)GAG>AAG p.E41K GLT25D2_uc010poj.1_Missense_Mutation_p.E41K|GLT25D2_uc001gqs.2_Intron NM_015101 NP_055916 Q8IYK4 GT252_HUMAN glycosyltransferase 25 domain containing 2 41 lipopolysaccharide biosynthetic process endoplasmic reticulum lumen procollagen galactosyltransferase activity ovary(1)|breast(1) 2 ACCACCGGCTCCTCTCCGTCG 0.721 NA 4 14 0 0 0 0 KCNT2 343450 broad.mit.edu 37 1 196309572 196309572 + Nonsense_Mutation SNP G G T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr1:196309572G>T uc001gtd.1 - 16 1742 c.1682C>A c.(1681-1683)TCA>TAA p.S561* KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Nonsense_Mutation_p.S511*|KCNT2_uc001gtf.1_Nonsense_Mutation_p.S561*|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Nonsense_Mutation_p.S561*|KCNT2_uc001gth.1_Nonsense_Mutation_p.S82* NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 561 Cytoplasmic (Potential). voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 TTTAAATGCTGAATTCTCTTC 0.358 NA 8 37 3.1e-07 4.13e-07 1 0 LGR6 59352 broad.mit.edu 37 1 202245595 202245595 + Missense_Mutation SNP G G A rs142083498 TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr1:202245595G>A uc001gxu.2 + 5 590 c.590G>A c.(589-591)CGC>CAC p.R197H LGR6_uc001gxv.2_Missense_Mutation_p.R145H|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Intron|LGR6_uc009xac.1_RNA NM_001017403 NP_001017403 Q9HBX8 LGR6_HUMAN leucine-rich repeat-containing G protein-coupled 197 LRR 5.|Extracellular (Potential). integral to membrane|plasma membrane protein-hormone receptor activity large_intestine(4)|ovary(3)|skin(2)|pancreas(1) 10 GCCCTCAACCGCATCAGCCAC 0.637 NA 9 33 0 0 0 0 G0S2 50486 broad.mit.edu 37 1 209849324 209849324 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr1:209849324C>T uc001hhi.3 + 2 552 c.295C>T c.(295-297)CGG>TGG p.R99W NM_015714 NP_056529 P27469 G0S2_HUMAN G0/G1switch 2 99 cell cycle 0 OV - Ovarian serous cystadenocarcinoma(81;0.041) CCTGTCCAACCGGCAGCACGC 0.662 NA 9 30 0 0 0 0 OR2L8 391190 broad.mit.edu 37 1 248112521 248112521 + Missense_Mutation SNP G G A rs148005952 byFrequency TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr1:248112521G>A uc001idt.1 + 1 362 c.362G>A c.(361-363)CGT>CAT p.R121H OR2L13_uc001ids.2_Intron NM_001001963 NP_001001963 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, 121 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) GCCTATGATCGTTACATTGCT 0.443 NA 38 153 0 0 0 0 FRMD4A 55691 broad.mit.edu 37 10 13698869 13698869 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr10:13698869G>A uc001ims.2 - 22 3072 c.2720C>T c.(2719-2721)CCG>CTG p.P907L FRMD4A_uc009xjf.1_Missense_Mutation_p.P907L NM_018027 NP_060497 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A 907 cytoplasm|cytoskeleton binding ovary(1)|skin(1)|pancreas(1) 3 GCCCAGCGACGGAGTCCGCAG 0.751 NA 6 10 0 0 0 0 MARCH8 220972 broad.mit.edu 37 10 45956749 45956749 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr10:45956749G>A uc001jci.1 - 5 592 c.353C>T c.(352-354)TCC>TTC p.S118F MARCH8_uc001jch.2_Missense_Mutation_p.S400F|MARCH8_uc001jcj.1_Missense_Mutation_p.S118F|MARCH8_uc001jck.1_Missense_Mutation_p.S118F|MARCH8_uc001jcg.1_5'UTR NM_001002266 NP_001002266 Q5T0T0 MARH8_HUMAN cellular modulator of immune recognition isoform 118 RING-CH-type. cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding 0 GCGCGTGTCGGAGCTCTTGAT 0.572 NA 5 45 0 0 0 0 NDST2 8509 broad.mit.edu 37 10 75567373 75567373 + Silent SNP A A G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr10:75567373A>G uc001jvk.2 - 3 1578 c.774T>C c.(772-774)CGT>CGC p.R258R NDST2_uc010qks.1_5'Flank|NDST2_uc010qkt.1_Silent_p.R135R|NDST2_uc009xro.2_5'Flank|NDST2_uc010qku.1_Silent_p.R135R NM_003635 NP_003626 P52849 NDST2_HUMAN heparan glucosaminyl 258 Lumenal (Potential).|Heparan sulfate N-deacetylase 2. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity ovary(1) 1 Prostate(51;0.0112) GCCGGGCCCGACGAAGAACTG 0.557 NA 8 36 0 0 0 0 CAMK2G 818 broad.mit.edu 37 10 75608802 75608802 + Missense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr10:75608802G>C uc001jvv.1 - 7 586 c.462C>G c.(460-462)ATC>ATG p.I154M CAMK2G_uc001jvm.1_Missense_Mutation_p.I162M|CAMK2G_uc001jvo.1_Missense_Mutation_p.I162M|CAMK2G_uc001jvq.1_Missense_Mutation_p.I162M|CAMK2G_uc001jvr.1_Missense_Mutation_p.I162M|CAMK2G_uc001jvp.1_Missense_Mutation_p.I162M|CAMK2G_uc001jvs.1_Missense_Mutation_p.I162M|CAMK2G_uc001jvt.1_RNA|CAMK2G_uc001jvu.1_Missense_Mutation_p.I140M|CAMK2G_uc010qkv.1_Intron NM_172171 NP_751911 Q13555 KCC2G_HUMAN calcium/calmodulin-dependent protein kinase II 162 Protein kinase. insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity lung(1)|stomach(1) 2 Prostate(51;0.0112) CCTGTACTTCGATGGCTAGGC 0.562 NA OREG0020267 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 111 0 0 0 0 ZMIZ1 57178 broad.mit.edu 37 10 81063878 81063878 + Silent SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr10:81063878C>T uc001kaf.2 + 19 2804 c.2232C>T c.(2230-2232)ATC>ATT p.I744I ZMIZ1_uc001kag.2_Silent_p.I620I|ZMIZ1_uc010qlq.1_5'Flank NM_020338 NP_065071 Q9ULJ6 ZMIZ1_HUMAN retinoic acid induced 17 744 SP-RING-type. transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding ovary(2)|breast(1)|skin(1) 4 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) AGTGCCCCATCACATTCCGGC 0.612 NA 10 33 0 0 0 0 PLCE1 51196 broad.mit.edu 37 10 96005912 96005912 + Missense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr10:96005912C>G uc001kjk.2 + 8 3264 c.2630C>G c.(2629-2631)TCT>TGT p.S877C PLCE1_uc010qnx.1_Missense_Mutation_p.S877C|PLCE1_uc001kjm.2_Missense_Mutation_p.S569C NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 877 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) ACACACCTCTCTGCCCGCTGC 0.582 NA 3 49 0 0 0 0 NOC3L 64318 broad.mit.edu 37 10 96109029 96109029 + Missense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr10:96109029C>G uc001kjq.1 - 10 1323 c.1235G>C c.(1234-1236)AGA>ACA p.R412T NOC3L_uc009xuk.1_Missense_Mutation_p.R197T NM_022451 NP_071896 Q8WTT2 NOC3L_HUMAN nucleolar complex associated 3 homolog 412 nuclear speck|nucleolus binding ovary(1) 1 Colorectal(252;0.0897) TTCGTAATTTCTGCCCTTCAC 0.328 NA 13 45 0 0 0 0 RRP12 23223 broad.mit.edu 37 10 99131844 99131844 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr10:99131844G>A uc001knf.2 - 20 2468 c.2329C>T c.(2329-2331)CGG>TGG p.R777W RRP12_uc009xvl.2_5'UTR|RRP12_uc009xvm.2_Missense_Mutation_p.R495W|RRP12_uc010qou.1_Missense_Mutation_p.R716W|RRP12_uc009xvn.2_Missense_Mutation_p.R677W NM_015179 NP_055994 Q5JTH9 RRP12_HUMAN ribosomal RNA processing 12 homolog isoform 1 777 integral to membrane|nuclear membrane|nucleolus protein binding ovary(2)|central_nervous_system(1) 3 Colorectal(252;0.162) Epithelial(162;2.72e-09)|all cancers(201;1.76e-07) AGGTAGGGCCGGATGGTGGAG 0.622 NA 12 41 0 0 0 0 ADRA2A 150 broad.mit.edu 37 10 112837979 112837979 + Silent SNP G G C rs12416313 byFrequency TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr10:112837979G>C uc001kzo.2 + 1 1190 c.225G>C c.(223-225)ACG>ACC p.T75T NM_000681 NP_000672 P08913 ADA2A_HUMAN alpha-2A-adrenergic receptor 60 Cytoplasmic (By similarity). actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding 0 Breast(234;0.0735)|Lung NSC(174;0.238) Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118) Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392) CCGTGTTCACGAGCCGCGCGC 0.647 NA 6 48 0 0 0 0 HMX3 340784 broad.mit.edu 37 10 124896741 124896741 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr10:124896741G>A uc010quc.1 + 2 568 c.568G>A c.(568-570)GAA>AAA p.E190K NM_001105574 NP_001099044 A6NHT5 HMX3_HUMAN H6 family homeobox 3 190 cell differentiation nucleus sequence-specific DNA binding transcription factor activity 0 all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163) Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141) AAAGGAAGGCGAAGCGGCGCC 0.652 NA 4 10 0 0 0 0 C10orf137 26098 broad.mit.edu 37 10 127409947 127409947 + Missense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr10:127409947C>G uc001liq.1 + 2 576 c.283C>G c.(283-285)CTT>GTT p.L95V uc001lim.1_5'Flank|C10orf137_uc001lin.2_Missense_Mutation_p.L95V|C10orf137_uc001lio.1_Missense_Mutation_p.L95V|C10orf137_uc001lip.1_5'UTR NM_015608 NP_056423 Q3B7T1 EDRF1_HUMAN erythroid differentiation-related factor 1 95 L -> F (in a colorectal cancer sample; somatic mutation). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding p.L95F(1) ovary(5)|large_intestine(3)|lung(2) 10 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) AACTACCATTCTTGGCAACAG 0.438 NA 10 53 0 0 0 0 LRRC27 80313 broad.mit.edu 37 10 134165110 134165110 + Splice_Site SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr10:134165110G>A uc010quw.1 + 7 1122 c.927_splice c.e7-1 p.R309_splice LRRC27_uc001llf.2_Splice_Site_p.E341_splice|LRRC27_uc010quv.1_Splice_Site_p.R309_splice|LRRC27_uc001llg.2_Splice_Site|LRRC27_uc001lli.2_Splice_Site_p.R309_splice|LRRC27_uc001llj.2_Splice_Site_p.R247_splice|LRRC27_uc001llk.3_Splice_Site_p.R182_splice NM_030626 NP_085129 Q9C0I9 LRC27_HUMAN leucine rich repeat containing 27 isoform a ovary(1) 1 all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218) TGTAATTTTAGAAGGAAGACA 0.483 NA 63 213 0 0 0 0 MUC2 4583 broad.mit.edu 37 11 1096554 1096554 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr11:1096554G>A uc001lsx.1 + 37 13692 c.13665G>A c.(13663-13665)ATG>ATA p.M4555I NM_002457 NP_002448 Q02817 MUC2_HUMAN mucin 2 precursor 4555 VWFD 4. inner mucus layer|outer mucus layer protein binding lung(1)|breast(1) 2 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) CCGTGCATATGATGCCCATGC 0.637 NA 5 20 0 0 0 0 OR52K2 119774 broad.mit.edu 37 11 4470668 4470668 + Missense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr11:4470668C>G uc001lyz.1 + 1 99 c.99C>G c.(97-99)TTC>TTG p.F33L NM_001005172 NP_001005172 Q8NGK3 O52K2_HUMAN olfactory receptor, family 52, subfamily K, 33 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19) CCATCCCTTTCTGCTTAGCAT 0.517 NA 7 70 0 0 0 0 CNGA4 1262 broad.mit.edu 37 11 6262988 6262988 + Silent SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr11:6262988G>A uc001mco.2 + 5 1352 c.1245G>A c.(1243-1245)GAG>GAA p.E415E CNGA4_uc010raa.1_Silent_p.E184E|CNGA4_uc001mcn.2_Silent_p.E375E NM_001037329 NP_001032406 Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 415 cNMP.|Cytoplasmic (Potential). response to stimulus|sensory perception of smell cAMP binding skin(1) 1 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACTTTGGGGAGATCAGCATCA 0.552 NA 41 69 0 0 0 0 SBF2 81846 broad.mit.edu 37 11 9810748 9810748 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr11:9810748C>T uc001mib.2 - 35 4978 c.4840G>A c.(4840-4842)GAA>AAA p.E1614K uc001mhz.1_Intron|SBF2_uc001mid.2_Missense_Mutation_p.E258K|SBF2_uc001mic.2_5'Flank|uc001mie.3_Intron NM_030962 NP_112224 Q86WG5 MTMRD_HUMAN SET binding factor 2 1614 myelination cytoplasm|membrane phosphatase activity|protein binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) GGCCCAGCTTCTCCAGCCAGG 0.537 NA 15 50 0 0 0 0 SBF2 81846 broad.mit.edu 37 11 9810835 9810835 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr11:9810835C>T uc001mib.2 - 35 4891 c.4753G>A c.(4753-4755)GAA>AAA p.E1585K uc001mhz.1_Intron|SBF2_uc001mid.2_Missense_Mutation_p.E229K|SBF2_uc001mic.2_5'Flank|uc001mie.3_Intron NM_030962 NP_112224 Q86WG5 MTMRD_HUMAN SET binding factor 2 1585 myelination cytoplasm|membrane phosphatase activity|protein binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) AGGGTCTCTTCTATGTAGTAA 0.488 NA 19 75 0 0 0 0 OR4C46 119749 broad.mit.edu 37 11 51515816 51515816 + Silent SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr11:51515816C>T uc010ric.1 + 1 535 c.535C>T c.(535-537)CTG>TTG p.L179L NM_001004703 NP_001004703 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, 179 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TATGTGTGATCTGAACCCTTT 0.458 NA 23 98 0 0 0 0 APLNR 187 broad.mit.edu 37 11 57003609 57003609 + Silent SNP G G T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr11:57003609G>T uc001njo.2 - 1 1319 c.870C>A c.(868-870)ATC>ATA p.I290I APLNR_uc001njn.3_RNA NM_005161 NP_005152 P35414 APJ_HUMAN apelin receptor 290 Helical; Name=7; (Potential). integral to plasma membrane G-protein coupled receptor activity lung(5)|ovary(1) 6 AGTAGGGGAAGATGTTCATGA 0.587 NA 5 46 1.24e-05 1.63e-05 1 0 OR5B17 219965 broad.mit.edu 37 11 58125821 58125821 + Missense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr11:58125821G>C uc010rke.1 - 1 722 c.722C>G c.(721-723)TCT>TGT p.S241C NM_001005489 NP_001005489 Q8NGF7 OR5BH_HUMAN olfactory receptor, family 5, subfamily B, 241 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Esophageal squamous(5;0.0027) Breast(21;0.0778) AATGAGGTGAGAACCACAGGT 0.393 NA 8 29 0 0 0 0 DAGLA 747 broad.mit.edu 37 11 61511546 61511546 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr11:61511546C>T uc001nsa.2 + 20 2825 c.2714C>T c.(2713-2715)TCG>TTG p.S905L NM_006133 NP_006124 Q9Y4D2 DGLA_HUMAN neural stem cell-derived dendrite regulator 905 Cytoplasmic (Potential). cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity ovary(2)|central_nervous_system(1) 3 READ - Rectum adenocarcinoma(4;0.219) CTGGGGGACTCGCCCAGTCCT 0.652 NA 9 37 0 0 0 0 HNRNPUL2 221092 broad.mit.edu 37 11 62490138 62490138 + Missense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr11:62490138C>G uc001nuw.2 - 6 1223 c.1030G>C c.(1030-1032)GAA>CAA p.E344Q HNRNPUL2_uc001nuu.1_RNA NM_001079559 NP_001073027 Q1KMD3 HNRL2_HUMAN heterogeneous nuclear ribonucleoprotein U-like 344 B30.2/SPRY. cell killing nucleus ATP binding|nucleic acid binding 0 TGTCCATTTTCTGCCTTGAGT 0.428 NA 13 55 0 0 0 0 FKBP2 2286 broad.mit.edu 37 11 64009964 64009964 + Silent SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr11:64009964C>G uc001nyy.2 + 2 301 c.105C>G c.(103-105)GTC>GTG p.V35V FKBP2_uc010rnh.1_Silent_p.V35V|FKBP2_uc001nyz.2_Silent_p.V35V NM_004470 NP_004461 P26885 FKBP2_HUMAN FK506 binding protein 2, 13kDa precursor 35 protein folding endoplasmic reticulum membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding 0 AGATCGGGGTCAAGAAGCGGG 0.632 NA 7 76 0 0 0 0 CDCA5 113130 broad.mit.edu 37 11 64851416 64851416 + Missense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr11:64851416G>C uc001ocp.2 - 1 200 c.35C>G c.(34-36)GCT>GGT p.A12G ZFPL1_uc009yqa.2_5'Flank|ZFPL1_uc001ocq.1_5'Flank|ZFPL1_uc010rnx.1_5'Flank NM_080668 NP_542399 Q96FF9 CDCA5_HUMAN cell division cycle associated 5 12 cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin cytoplasm|nuclear chromatin|plasma membrane chromatin binding|identical protein binding 0 GGAGCGCTGAGCGGCTCCTCC 0.602 NA 14 51 0 0 0 0 MAP3K11 4296 broad.mit.edu 37 11 65380700 65380700 + Silent SNP G G T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr11:65380700G>T uc001oew.2 - 1 1021 c.528C>A c.(526-528)ATC>ATA p.I176I MAP3K11_uc010rol.1_5'Flank NM_002419 NP_002410 Q16584 M3K11_HUMAN mitogen-activated protein kinase kinase kinase 176 Protein kinase. activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation centrosome|microtubule ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity breast(3)|lung(1)|central_nervous_system(1)|skin(1) 6 TGAGGGCAATGATGTTGGGGT 0.667 NA 7 51 0.00307968 0.0039362 1 0 RPS6KB2 6199 broad.mit.edu 37 11 67200087 67200087 + Silent SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr11:67200087G>A uc001old.2 + 6 556 c.474G>A c.(472-474)ACG>ACA p.T158T RPS6KB2_uc001olf.2_5'UTR|RPS6KB2_uc001olg.2_Silent_p.T158T|RPS6KB2_uc009yrq.2_5'UTR|RPS6KB2_uc001ole.2_RNA|RPS6KB2_uc001olh.2_RNA|RPS6KB2_uc009yrr.2_Missense_Mutation_p.R23H NM_003952 NP_003943 Q9UBS0 KS6B2_HUMAN ribosomal protein S6 kinase, 70kDa, polypeptide 158 Protein kinase. nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation nucleoplasm ATP binding|protein serine/threonine kinase activity ovary(2)|central_nervous_system(2)|stomach(1)|lung(1)|salivary_gland(1) 7 BRCA - Breast invasive adenocarcinoma(15;3.26e-06) AGCTCTTCACGCATCTGGAGC 0.468 NA 22 74 0 0 0 0 PPFIA1 8500 broad.mit.edu 37 11 70208451 70208451 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr11:70208451G>A uc001opo.2 + 21 2920 c.2722G>A c.(2722-2724)GGG>AGG p.G908R PPFIA1_uc001opn.1_Missense_Mutation_p.G908R|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opr.2_Missense_Mutation_p.G16R NM_003626 NP_003617 Q13136 LIPA1_HUMAN PTPRF interacting protein alpha 1 isoform b 908 SAM 1. cell-matrix adhesion cytoplasm protein binding|signal transducer activity lung(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) CGTGAAAAGCGGGGCCATCAT 0.607 NA 24 142 0 0 0 0 LAYN 143903 broad.mit.edu 37 11 111428359 111428359 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr11:111428359G>A uc001plr.1 + 7 1112 c.776G>A c.(775-777)TGT>TAT p.C259Y LAYN_uc001plp.1_Missense_Mutation_p.C251Y|LAYN_uc001plq.1_Missense_Mutation_p.C259Y|LAYN_uc001pls.1_Missense_Mutation_p.C251Y|LAYN_uc010rwg.1_Missense_Mutation_p.C106Y|LAYN_uc010rwh.1_Missense_Mutation_p.C107Y NM_178834 NP_849156 Q6UX15 LAYN_HUMAN layilin 259 Cytoplasmic (Potential). cell surface|integral to membrane|ruffle hyaluronic acid binding|sugar binding 0 all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086) Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476) GTTTGGATCTGTAGAAAAAGG 0.433 NA 40 422 0 0 0 0 CRTAM 56253 broad.mit.edu 37 11 122720855 122720855 + Silent SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr11:122720855G>A uc001pyj.2 + 2 126 c.126G>A c.(124-126)CTG>CTA p.L42L NM_019604 NP_062550 O95727 CRTAM_HUMAN class-I MHC-restricted T cell associated 42 Ig-like V-type.|Extracellular (Potential). cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target integral to membrane|plasma membrane receptor binding ovary(1) 1 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308) TCACTTCTCTGAGGAAGAACT 0.483 NA 22 29 0 0 0 0 C12orf4 57102 broad.mit.edu 37 12 4639069 4639069 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr12:4639069C>T uc001qms.2 - 4 560 c.472G>A c.(472-474)GAA>AAA p.E158K C12orf4_uc001qmt.2_Missense_Mutation_p.E158K NM_020374 NP_065107 Q9NQ89 CL004_HUMAN hypothetical protein LOC57102 158 0 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229) BRCA - Breast invasive adenocarcinoma(232;0.0281) ACATCTCTTTCACCAATCAGT 0.343 NA 12 59 0 0 0 0 SLC2A3 6515 broad.mit.edu 37 12 8074141 8074141 + Silent SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr12:8074141G>A uc001qtr.2 - 10 1621 c.1359C>T c.(1357-1359)ACC>ACT p.T453T NM_006931 NP_008862 P11169 GTR3_HUMAN solute carrier family 2 (facilitated glucose 453 Cytoplasmic (Potential). carbohydrate metabolic process|water-soluble vitamin metabolic process integral to membrane|plasma membrane D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity ovary(3)|pancreas(1) 4 Kidney(36;0.0866) TCCTGCCACGGGTCTCAGGGA 0.488 NA 21 79 0 0 0 0 ATF7IP 55729 broad.mit.edu 37 12 14578131 14578131 + Missense_Mutation SNP G G T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr12:14578131G>T uc001rbw.2 + 2 1440 c.1282G>T c.(1282-1284)GAC>TAC p.D428Y ATF7IP_uc010shs.1_Missense_Mutation_p.D428Y|ATF7IP_uc001rbu.2_Missense_Mutation_p.D428Y|ATF7IP_uc001rbv.1_Missense_Mutation_p.D428Y|ATF7IP_uc001rbx.2_Missense_Mutation_p.D428Y|ATF7IP_uc010sht.1_Missense_Mutation_p.D428Y|ATF7IP_uc001rby.3_Missense_Mutation_p.D428Y|ATF7IP_uc001rbz.1_Missense_Mutation_p.D428Y|ATF7IP_uc001rca.2_Missense_Mutation_p.D428Y|ATF7IP_uc001rcb.2_Missense_Mutation_p.D39Y NM_018179 NP_060649 Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting 428 Glu-rich. DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding lung(3)|ovary(1)|skin(1) 5 AGAAAATACAGACTCTATGGA 0.333 NA 9 49 0.00448238 0.00572195 1 0 C12orf60 144608 broad.mit.edu 37 12 14976214 14976214 + Missense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr12:14976214C>G uc001rcj.3 + 2 549 c.345C>G c.(343-345)TTC>TTG p.F115L NM_175874 NP_787070 Q5U649 CL060_HUMAN hypothetical protein LOC144608 115 ovary(1)|central_nervous_system(1) 2 AAGAAGTATTCAAAAGTGCCC 0.433 NA 25 75 0 0 0 0 DDX11 1663 broad.mit.edu 37 12 31255377 31255377 + Missense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr12:31255377G>C uc001rjt.1 + 23 2539 c.2288G>C c.(2287-2289)AGA>ACA p.R763T DDX11_uc001rjr.1_Missense_Mutation_p.R763T|DDX11_uc001rjs.1_Missense_Mutation_p.R713T|DDX11_uc001rju.1_Missense_Mutation_p.R435T|DDX11_uc001rjv.1_Missense_Mutation_p.R763T|DDX11_uc001rjw.1_Missense_Mutation_p.R737T|DDX11_uc009zjn.1_RNA|DDX11_uc009zjo.1_5'UTR NM_152438 NP_689651 Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 763 G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding breast(3) 3 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) GGCCAGGAGAGAGGCCAGGTG 0.562 NA Multiple Myeloma(12;0.14) 28 98 0 0 0 0 OR6C76 390326 broad.mit.edu 37 12 55820433 55820433 + Silent SNP C C A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr12:55820433C>A uc010spm.1 + 1 396 c.396C>A c.(394-396)ATC>ATA p.I132I NM_001005183 NP_001005183 A6NM76 O6C76_HUMAN olfactory receptor, family 6, subfamily C, 132 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ATACAACCATCATGAGTGACA 0.433 NA 22 108 3.77e-24 5.21e-24 1 0 ITGA7 3679 broad.mit.edu 37 12 56096885 56096885 + Missense_Mutation SNP G G A rs143749139 byFrequency TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr12:56096885G>A uc001shh.2 - 2 504 c.284C>T c.(283-285)CCG>CTG p.P95L ITGA7_uc001shg.2_Missense_Mutation_p.P95L|ITGA7_uc010sps.1_Intron|ITGA7_uc009znx.2_5'Flank NM_001144996 NP_001138468 Q13683 ITA7_HUMAN integrin alpha 7 isoform 1 precursor 95 FG-GAP 1.|Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 CAGGCTCAACGGGCAAGCGAA 0.652 NA 19 61 0 0 0 0 ESYT1 23344 broad.mit.edu 37 12 56522298 56522298 + Silent SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr12:56522298G>C uc001sjq.2 + 1 245 c.195G>C c.(193-195)CTG>CTC p.L65L ESYT1_uc001sjr.2_Silent_p.L65L NM_015292 NP_056107 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 65 Helical; (Potential). integral to membrane ovary(4)|skin(1) 5 TGCTGGTGCTGATACCTGTGT 0.672 NA 5 15 0 0 0 0 AGAP2 116986 broad.mit.edu 37 12 58128428 58128428 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr12:58128428G>A uc001spq.2 - 3 1262 c.1262C>T c.(1261-1263)TCG>TTG p.S421L AGAP2_uc001spp.2_Missense_Mutation_p.S421L|AGAP2_uc001spr.2_Missense_Mutation_p.S85L NM_001122772 NP_001116244 Q99490 AGAP2_HUMAN centaurin, gamma 1 isoform PIKE-L 421 G domain. axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction mitochondrion|nucleolus ARF GTPase activator activity|GTP binding|zinc ion binding central_nervous_system(3)|breast(2) 5 GTGGATGAGCGATGACTTCCC 0.537 NA 51 151 0 0 0 0 PTPRB 5787 broad.mit.edu 37 12 70963581 70963581 + Nonsense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr12:70963581G>A uc001swb.3 - 12 2884 c.2854C>T c.(2854-2856)CAG>TAG p.Q952* PTPRB_uc010sto.1_Nonsense_Mutation_p.Q952*|PTPRB_uc010stp.1_Nonsense_Mutation_p.Q862*|PTPRB_uc001swc.3_Nonsense_Mutation_p.Q1170*|PTPRB_uc001swa.3_Nonsense_Mutation_p.Q1082*|PTPRB_uc001swd.3_Nonsense_Mutation_p.Q1169*|PTPRB_uc009zrr.1_Nonsense_Mutation_p.Q1049* NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 952 Fibronectin type-III 11.|Extracellular (Potential). angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) GGAATAGTCTGAGAGTCAACC 0.547 NA 12 55 0 0 0 0 NAV3 89795 broad.mit.edu 37 12 78574787 78574787 + Missense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr12:78574787C>G uc001syp.2 + 30 5827 c.5654C>G c.(5653-5655)TCT>TGT p.S1885C NAV3_uc001syo.2_Missense_Mutation_p.S1863C|NAV3_uc010sub.1_Missense_Mutation_p.S1342C|NAV3_uc009zsf.2_Missense_Mutation_p.S694C NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1885 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 TTAGGACTTTCTCTAAACAAT 0.483 NA HNSCC(70;0.22) 21 89 0 0 0 0 METAP2 10988 broad.mit.edu 37 12 95868071 95868071 + Missense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr12:95868071G>C uc001tec.2 + 1 250 c.116G>C c.(115-117)AGA>ACA p.R39T METAP2_uc010suv.1_Missense_Mutation_p.R39T|METAP2_uc009ztd.2_Missense_Mutation_p.R39T|METAP2_uc001ted.2_Missense_Mutation_p.R39T|METAP2_uc001tef.2_Missense_Mutation_p.R39T|METAP2_uc001tee.2_RNA NM_006838 NP_006829 P50579 AMPM2_HUMAN methionyl aminopeptidase 2 39 Arg/Lys-rich (basic). N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis cytoplasm aminopeptidase activity|metal ion binding|metalloexopeptidase activity 0 L-Methionine(DB00134) AAGAAAAAAAGACGAAAGAAG 0.557 NA 15 68 0 0 0 0 C12orf63 374467 broad.mit.edu 37 12 97078851 97078851 + Missense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr12:97078851G>C uc001tet.1 + 9 1202 c.1124G>C c.(1123-1125)AGA>ACA p.R375T NM_198520 NP_940922 Q6ZTY8 CL063_HUMAN hypothetical protein LOC374467 375 skin(6)|ovary(1) 7 GACATATTCAGAAAACCAGAC 0.433 NA 8 32 0 0 0 0 ANKS1B 56899 broad.mit.edu 37 12 99793498 99793498 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr12:99793498C>T uc001tge.1 - 12 2084 c.1667G>A c.(1666-1668)TGC>TAC p.C556Y ANKS1B_uc001tgf.1_Missense_Mutation_p.C136Y|ANKS1B_uc009ztt.1_Missense_Mutation_p.C522Y NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN cajalin 2 isoform a 556 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane 0 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) AAAGCTTGTGCACCCTGTAGA 0.428 NA 25 74 0 0 0 0 NAA25 80018 broad.mit.edu 37 12 112492367 112492367 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr12:112492367C>T uc001ttm.2 - 14 1473 c.1453G>A c.(1453-1455)GAG>AAG p.E485K NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Missense_Mutation_p.E457K|NAA25_uc009zwa.1_Missense_Mutation_p.E485K NM_024953 NP_079229 Q14CX7 NAA25_HUMAN mitochondrial distribution and morphology 20 485 cytoplasm protein binding ovary(1)|breast(1)|pancreas(1) 3 ACAGTGGTCTCATCACCTAGA 0.433 NA 9 15 0 0 0 0 C12orf51 283450 broad.mit.edu 37 12 112605283 112605283 + Silent SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr12:112605283G>A uc009zwc.2 - 65 11124 c.11106C>T c.(11104-11106)TTC>TTT p.F3702F NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 GCTGCCCCAGGAAGTGCAGCA 0.662 NA 14 43 0 0 0 0 EP400 57634 broad.mit.edu 37 12 132554096 132554096 + Silent SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr12:132554096G>A uc001ujn.2 + 50 8966 c.8931G>A c.(8929-8931)GCG>GCA p.A2977A EP400_uc001ujl.2_Silent_p.A2976A|EP400_uc001ujm.2_Silent_p.A2896A|EP400_uc001ujp.2_Silent_p.A187A NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 3013 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) CCTACGCCGCGCAGCCGGCCC 0.647 NA 18 106 0 0 0 0 MPHOSPH8 54737 broad.mit.edu 37 13 20235942 20235942 + Missense_Mutation SNP G G T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr13:20235942G>T uc001umh.2 + 8 1905 c.1896G>T c.(1894-1896)AAG>AAT p.K632N MPHOSPH8_uc001umg.2_Missense_Mutation_p.K632N NM_017520 NP_059990 Q99549 MPP8_HUMAN M-phase phosphoprotein 8 632 cell cycle cytoplasm|nucleus 0 all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367) all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795) GTCGGCAGAAGAACGGGACCA 0.562 NA 33 76 5.92e-21 8.17e-21 1 0 MTMR6 9107 broad.mit.edu 37 13 25840348 25840348 + Silent SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr13:25840348G>C uc001uqf.3 - 4 700 c.381C>G c.(379-381)CTC>CTG p.L127L MTMR6_uc001uqe.1_Silent_p.L127L NM_004685 NP_004676 Q9Y217 MTMR6_HUMAN myotubularin related protein 6 127 Myotubularin phosphatase. cytoplasm|nuclear envelope calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity ovary(2)|skin(2) 4 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164) CGAGATCAATGAGCTGCCAGC 0.393 NA 12 23 0 0 0 0 MTMR6 9107 broad.mit.edu 37 13 25842002 25842002 + Missense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr13:25842002C>G uc001uqf.3 - 3 538 c.219G>C c.(217-219)AAG>AAC p.K73N MTMR6_uc001uqe.1_Missense_Mutation_p.K73N NM_004685 NP_004676 Q9Y217 MTMR6_HUMAN myotubularin related protein 6 73 cytoplasm|nuclear envelope calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity ovary(2)|skin(2) 4 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164) TTCTGAAGTTCTTGCACTGTA 0.393 NA 12 29 0 0 0 0 ELF1 1997 broad.mit.edu 37 13 41517197 41517197 + Nonsense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr13:41517197G>A uc001uxs.2 - 7 1070 c.697C>T c.(697-699)CGA>TGA p.R233* ELF1_uc010tfc.1_Nonsense_Mutation_p.R209*|ELF1_uc010acd.2_Nonsense_Mutation_p.R126* NM_172373 NP_758961 P32519 ELF1_HUMAN E74-like factor 1 (ets domain transcription 233 ETS. positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367) all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072) CCTTTCTCTCGCTGGGTCCAC 0.408 NA 16 46 0 0 0 0 RNASE9 390443 broad.mit.edu 37 14 21025129 21025129 + Missense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr14:21025129C>G uc010aho.2 - 4 259 c.100G>C c.(100-102)GAT>CAT p.D34H RNASE9_uc001vxq.3_Missense_Mutation_p.D39H|RNASE9_uc010ahp.2_Missense_Mutation_p.D39H|RNASE9_uc010ahq.2_Missense_Mutation_p.D39H|RNASE9_uc010ahr.2_Missense_Mutation_p.D39H|RNASE9_uc010ahs.2_Missense_Mutation_p.D34H|RNASE9_uc010aht.2_Missense_Mutation_p.D34H|RNASE9_uc010ahu.2_Missense_Mutation_p.D34H NM_001110357 NP_001103827 P60153 RNAS9_HUMAN ribonuclease, RNase A family, 9 (non-active) 34 extracellular region nucleic acid binding|pancreatic ribonuclease activity ovary(2) 2 all_cancers(95;0.00238) Epithelial(56;3.32e-06)|all cancers(55;2.46e-05) GBM - Glioblastoma multiforme(265;0.0141) TCTGGGAAATCAAAATCTGTA 0.438 NA 14 45 0 0 0 0 PSMB5 5693 broad.mit.edu 37 14 23495350 23495350 + Missense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr14:23495350G>C uc001wii.2 - 3 1004 c.740C>G c.(739-741)TCC>TGC p.S247C PSMB5_uc001wij.2_3'UTR|PSMB5_uc010tni.1_Missense_Mutation_p.S144C NM_002797 NP_002788 P28074 PSB5_HUMAN proteasome beta 5 subunit isoform 1 247 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus protein binding|threonine-type endopeptidase activity ovary(1) 1 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.0121) Bortezomib(DB00188) ATTGTCACTGGAGACTCGGAT 0.552 NA 4 158 0 0 0 0 AKAP6 9472 broad.mit.edu 37 14 33147558 33147558 + Silent SNP T T G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr14:33147558T>G uc001wrq.2 + 8 2942 c.2772T>G c.(2770-2772)GCT>GCG p.A924A AKAP6_uc010aml.2_Silent_p.A921A NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 924 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) AAAGAGATGCTGTTGAGCAGA 0.438 NA 4 23 0 0 0 0 AKAP6 9472 broad.mit.edu 37 14 33293569 33293569 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr14:33293569G>A uc001wrq.2 + 13 6720 c.6550G>A c.(6550-6552)GAA>AAA p.E2184K NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 2184 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) AGTTCCCAGCGAAGCTGCAAT 0.458 NA 8 22 0 0 0 0 L2HGDH 79944 broad.mit.edu 37 14 50750625 50750625 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr14:50750625C>T uc001wxu.2 - 5 746 c.667G>A c.(667-669)GAA>AAA p.E223K L2HGDH_uc010tqn.1_Missense_Mutation_p.E223K|L2HGDH_uc010tqo.1_Missense_Mutation_p.E223K NM_024884 NP_079160 Q9H9P8 L2HDH_HUMAN L-2-hydroxyglutarate dehydrogenase precursor 223 2-oxoglutarate metabolic process|cellular protein metabolic process integral to mitochondrial inner membrane 2-hydroxyglutarate dehydrogenase activity ovary(2) 2 all_epithelial(31;0.000599)|Breast(41;0.0102) TTAGCCATTTCAATACCTTTT 0.338 NA 19 55 0 0 0 0 PYGL 5836 broad.mit.edu 37 14 51411035 51411035 + Silent SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr14:51411035C>T uc001wyu.2 - 1 214 c.87G>A c.(85-87)AAG>AAA p.K29K PYGL_uc010tqq.1_Silent_p.K29K|PYGL_uc001wyv.2_5'UTR|PYGL_uc001wyw.3_Silent_p.K29K NM_002863 NP_002854 P06737 PYGL_HUMAN liver glycogen phosphorylase isoform 1 29 glucose homeostasis|glucose metabolic process|glycogen catabolic process cytosol|soluble fraction AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding skin(1) 1 all_epithelial(31;0.00825)|Breast(41;0.148) Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140) TGAAACTCTTCTTCAGCTCTG 0.632 NA 18 38 0 0 0 0 ADAM20 8748 broad.mit.edu 37 14 70991263 70991263 + Missense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr14:70991263C>G uc001xme.2 - 2 607 c.362G>C c.(361-363)AGA>ACA p.R121T NM_003814 NP_003805 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 preproprotein 71 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) GACAATGTATCTCTGTCCCCC 0.532 NA 23 73 0 0 0 0 ADAM20 8748 broad.mit.edu 37 14 70991307 70991307 + Missense_Mutation SNP C C A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr14:70991307C>A uc001xme.2 - 2 563 c.318G>T c.(316-318)AAG>AAT p.K106N NM_003814 NP_003805 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 preproprotein 56 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) ATCCAGGAGCCTTTGCACCTC 0.522 NA 22 69 1.5e-11 2.04e-11 1 0 PCNX 22990 broad.mit.edu 37 14 71576209 71576209 + Missense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr14:71576209C>G uc001xmo.2 + 35 7231 c.6785C>G c.(6784-6786)TCT>TGT p.S2262C PCNX_uc010are.1_Missense_Mutation_p.S2151C|PCNX_uc010arf.1_Missense_Mutation_p.S1050C|PCNX_uc001xmp.2_Missense_Mutation_p.S346C NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 2262 integral to membrane ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) ATCAACCTGTCTAAAAGGAAA 0.408 NA 11 37 0 0 0 0 PCNX 22990 broad.mit.edu 37 14 71576247 71576247 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr14:71576247C>T uc001xmo.2 + 35 7269 c.6823C>T c.(6823-6825)CGG>TGG p.R2275W PCNX_uc010are.1_Missense_Mutation_p.R2164W|PCNX_uc010arf.1_Missense_Mutation_p.R1063W|PCNX_uc001xmp.2_Missense_Mutation_p.R359W NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 2275 integral to membrane ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) TGAAGGAATCCGGTTAAAAGC 0.473 NA 12 47 0 0 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72055532 72055532 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr14:72055532G>A uc001xms.2 + 2 1291 c.943G>A c.(943-945)GAT>AAT p.D315N SIPA1L1_uc001xmt.2_Missense_Mutation_p.D315N|SIPA1L1_uc001xmu.2_Missense_Mutation_p.D315N|SIPA1L1_uc001xmv.2_Missense_Mutation_p.D315N NM_015556 NP_056371 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 315 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity ovary(3)|breast(1) 4 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) AGATCTTGAAGATAACCGATC 0.408 NA 14 50 0 0 0 0 TMED10 10972 broad.mit.edu 37 14 75643164 75643164 + Missense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr14:75643164G>C uc001xrm.1 - 1 186 c.119C>G c.(118-120)TCT>TGT p.S40C TMED10_uc010ash.1_RNA NM_006827 NP_006818 P49755 TMEDA_HUMAN transmembrane emp24 domain-containing protein 10 40 Lumenal (Potential). protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane protein binding 0 BRCA - Breast invasive adenocarcinoma(234;0.0126) GCACTTGCGAGAGTTAATGGG 0.622 NA 5 100 0 0 0 0 VASH1 22846 broad.mit.edu 37 14 77239553 77239553 + Missense_Mutation SNP A A G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr14:77239553A>G uc001xst.2 + 4 1459 c.529A>G c.(529-531)ATT>GTT p.I177V VASH1_uc001xss.2_Missense_Mutation_p.M177V NM_014909 NP_055724 Q7L8A9 VASH1_HUMAN vasohibin 1 177 cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation endoplasmic reticulum|extracellular space 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0283) GATCCTGGGAATGTATCCTTC 0.388 NA 12 35 0 0 0 0 C14orf49 161176 broad.mit.edu 37 14 95932570 95932570 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr14:95932570C>T uc001yei.3 - 3 340 c.325G>A c.(325-327)GAG>AAG p.E109K C14orf49_uc010avi.2_Missense_Mutation_p.E109K|C14orf49_uc001yej.1_Missense_Mutation_p.E109K NM_152592 NP_689805 Q6ZMZ3 SYNE3_HUMAN nesprin-3 109 Cytoplasmic (Potential). cytoskeletal anchoring at nuclear membrane integral to membrane|nuclear outer membrane|SUN-KASH complex actin binding central_nervous_system(1) 1 all_cancers(154;0.0937) COAD - Colon adenocarcinoma(157;0.245) CACACCCACTCGATGCGGCTG 0.617 NA 12 73 0 0 0 0 SETD3 84193 broad.mit.edu 37 14 99925500 99925500 + Missense_Mutation SNP A A G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr14:99925500A>G uc001ygc.2 - 5 538 c.368T>C c.(367-369)GTT>GCT p.V123A SETD3_uc001ygd.2_Missense_Mutation_p.V123A|SETD3_uc001ygf.2_Missense_Mutation_p.V123A NM_032233 NP_115609 Q86TU7 SETD3_HUMAN SET domain containing 3 isoform a 123 SET. peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity 0 all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866) TTTTCGTGGAACCCATAAAAA 0.343 NA 12 92 0 0 0 0 RAGE 5891 broad.mit.edu 37 14 102732245 102732245 + Missense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr14:102732245C>G uc001ylm.2 - 3 353 c.127G>C c.(127-129)GAG>CAG p.E43Q RAGE_uc010txv.1_Intron|RAGE_uc001yln.2_5'UTR NM_014226 NP_055041 Q9UQ07 MOK_HUMAN MAPK/MAK/MRK overlapping kinase 43 Protein kinase. signal transduction Golgi apparatus ATP binding|cyclin-dependent protein kinase activity|protein binding ovary(2)|breast(1)|central_nervous_system(1) 4 TTGACTTGCTCAATACTATCG 0.378 NA 6 32 0 0 0 0 ZNF839 55778 broad.mit.edu 37 14 102805529 102805529 + Silent SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr14:102805529G>A uc001ylo.2 + 7 1898 c.1548G>A c.(1546-1548)GAG>GAA p.E516E ZNF839_uc010awk.1_Silent_p.E632E|ZNF839_uc001ylp.2_RNA|ZNF839_uc001ylq.1_Silent_p.E516E|ZNF839_uc001ylr.2_Silent_p.E441E|ZNF839_uc001yls.2_Silent_p.E131E|ZNF839_uc001ylt.2_Silent_p.E106E NM_018335 NP_060805 A8K0R7 ZN839_HUMAN zinc finger protein 839 516 intracellular zinc ion binding ovary(1)|central_nervous_system(1) 2 GAGGCCGGGAGAAGCCCAGGC 0.582 NA 6 23 0 0 0 0 TECPR2 9895 broad.mit.edu 37 14 102901519 102901519 + Missense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr14:102901519G>C uc001ylw.1 + 9 2513 c.2365G>C c.(2365-2367)GAG>CAG p.E789Q TECPR2_uc010awl.2_Missense_Mutation_p.E789Q|TECPR2_uc010txx.1_Intron NM_014844 NP_055659 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 789 protein binding lung(1)|central_nervous_system(1)|skin(1) 3 GCTGGGTGCAGAGGACGCCGG 0.552 NA 19 92 0 0 0 0 CKB 1152 broad.mit.edu 37 14 103986510 103986510 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr14:103986510C>T uc001ynf.1 - 7 996 c.916G>A c.(916-918)GAG>AAG p.E306K CKB_uc001yne.1_Missense_Mutation_p.E128K|CKB_uc010awr.1_Missense_Mutation_p.E237K NM_001823 NP_001814 P12277 KCRB_HUMAN brain creatine kinase 306 Phosphagen kinase C-terminal. creatine metabolic process cytosol ATP binding|creatine kinase activity 0 Melanoma(154;0.155) Epithelial(46;0.14) Creatine(DB00148) GAGAACTTCTCATGCTTGCCC 0.632 NA 8 40 0 0 0 0 PPP1R13B 23368 broad.mit.edu 37 14 104209072 104209072 + Silent SNP C C T rs12891833 TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr14:104209072C>T uc001yof.1 - 10 1522 c.1239G>A c.(1237-1239)CCG>CCA p.P413P PPP1R13B_uc010awv.1_RNA|PPP1R13B_uc001yog.1_Silent_p.P280P NM_015316 NP_056131 Q96KQ4 ASPP1_HUMAN apoptosis-stimulating protein of p53, 1 413 apoptosis|induction of apoptosis|negative regulation of cell cycle cytoplasm|nucleus|plasma membrane protein binding ovary(1) 1 all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155) CCTCCACGCTCGGATCCTTCC 0.552 NA 9 69 0 0 0 0 AHNAK2 113146 broad.mit.edu 37 14 105414035 105414035 + Nonsense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr14:105414035G>A uc010axc.1 - 7 7873 c.7753C>T c.(7753-7755)CAG>TAG p.Q2585* AHNAK2_uc001ypx.2_Nonsense_Mutation_p.Q2485* NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2585 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) ACATCTAGCTGGGGGCCCTTG 0.627 NA 67 220 0 0 0 0 BRF1 2972 broad.mit.edu 37 14 105677498 105677498 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr14:105677498C>T uc001yqp.2 - 17 2320 c.1957G>A c.(1957-1959)GAG>AAG p.E653K BRF1_uc010tyo.1_Missense_Mutation_p.E538K|BRF1_uc010typ.1_Missense_Mutation_p.E560K|BRF1_uc001yqk.2_Missense_Mutation_p.E179K|BRF1_uc001yql.2_Missense_Mutation_p.E449K|BRF1_uc001yqo.2_Missense_Mutation_p.E415K|BRF1_uc010axg.1_Missense_Mutation_p.E626K|BRF1_uc001yqn.2_Intron|BRF1_uc010axh.1_Intron|BRF1_uc010axi.1_3'UTR NM_001519 NP_001510 Q92994 TF3B_HUMAN transcription initiation factor IIIB isoform 1 653 positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription transcription factor TFIIIB complex translation initiation factor activity|zinc ion binding large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221) Epithelial(152;0.14) ACGCAGGGCTCCCCGTCCTCC 0.667 NA 28 99 0 0 0 0 UBE3A 7337 broad.mit.edu 37 15 25620732 25620732 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr15:25620732C>T uc001zaq.2 - 3 250 c.250G>A c.(250-252)GAT>AAT p.D84N UBE3A_uc001zar.2_Missense_Mutation_p.D61N|UBE3A_uc001zas.2_Missense_Mutation_p.D81N|UBE3A_uc001zat.2_Missense_Mutation_p.D61N NM_000462 NP_000453 Q05086 UBE3A_HUMAN ubiquitin protein ligase E3A isoform 2 84 brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity upper_aerodigestive_tract(1)|ovary(1)|breast(1) 3 all_cancers(20;3.47e-21)|Breast(32;0.00123) all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616) GGATGAGGATCACAGAGTTTT 0.423 NA 12 42 0 0 0 0 FSIP1 161835 broad.mit.edu 37 15 40068622 40068622 + Missense_Mutation SNP G G A rs148913803 TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr15:40068622G>A uc001zki.2 - 2 322 c.104C>T c.(103-105)TCA>TTA p.S35L NM_152597 NP_689810 Q8NA03 FSIP1_HUMAN fibrous sheath interacting protein 1 35 ovary(2)|skin(1) 3 all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142) TGGTTCTGTTGAGAGCACCTC 0.388 NA 16 68 0 0 0 0 INO80 54617 broad.mit.edu 37 15 41279293 41279293 + Missense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr15:41279293C>G uc001zni.2 - 31 4041 c.3828G>C c.(3826-3828)AAG>AAC p.K1276N INO80_uc010ucu.1_RNA NM_017553 NP_060023 Q9ULG1 INO80_HUMAN INO80 complex homolog 1 1276 Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity ovary(2)|pancreas(1)|skin(1) 4 ACATACGTTTCTTCTCCAACT 0.468 NA 8 22 0 0 0 0 MAPKBP1 23005 broad.mit.edu 37 15 42109197 42109197 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr15:42109197G>A uc001zok.3 + 15 1979 c.1693G>A c.(1693-1695)GAA>AAA p.E565K MAPKBP1_uc001zoj.3_Missense_Mutation_p.E559K|MAPKBP1_uc010bcj.2_Missense_Mutation_p.E66K|MAPKBP1_uc010bci.2_Missense_Mutation_p.E559K|MAPKBP1_uc010udb.1_Missense_Mutation_p.E398K|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_Missense_Mutation_p.E66K NM_001128608 NP_001122080 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 565 WD 9. central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 10 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) GACGCTGGACGAACACTCATC 0.602 NA 8 110 0 0 0 0 SPTBN5 51332 broad.mit.edu 37 15 42144929 42144929 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr15:42144929G>A uc001zos.2 - 61 10580 c.10247C>T c.(10246-10248)TCA>TTA p.S3416L NM_016642 NP_057726 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 3451 Spectrin 31. actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin ovary(1)|central_nervous_system(1) 2 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) ATCTGACACTGAGTGCTGGGG 0.587 NA 7 218 0 0 0 0 CAPN3 825 broad.mit.edu 37 15 42678467 42678467 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr15:42678467G>A uc001zpn.1 + 3 788 c.482G>A c.(481-483)GGG>GAG p.G161E CAPN3_uc001zpk.1_5'UTR|CAPN3_uc001zpl.1_Missense_Mutation_p.G74E|CAPN3_uc010udf.1_Missense_Mutation_p.G74E|CAPN3_uc010udg.1_Missense_Mutation_p.G74E|CAPN3_uc001zpo.1_Missense_Mutation_p.G161E|CAPN3_uc001zpp.1_Missense_Mutation_p.G161E NM_000070 NP_000061 P20807 CAN3_HUMAN calpain 3 isoform a 161 Calpain catalytic. muscle organ development|proteolysis cytoplasm calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity central_nervous_system(1) 1 all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;7.36e-07) AACTACGCAGGGATCTTCCAC 0.547 NA OREG0023085 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 95 0 0 0 0 AP4E1 23431 broad.mit.edu 37 15 51226870 51226870 + Missense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr15:51226870G>C uc001zyx.1 + 8 949 c.919G>C c.(919-921)GAG>CAG p.E307Q AP4E1_uc010ufi.1_Missense_Mutation_p.E307Q|AP4E1_uc010ufj.1_RNA|AP4E1_uc010ufk.1_Intron NM_007347 NP_031373 Q9UPM8 AP4E1_HUMAN adaptor-related protein complex 4, epsilon 1 307 intracellular protein transport|vesicle-mediated transport COPI vesicle coat binding|structural molecule activity 0 all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364) ACGAAGAGCTGAGTTAAATCA 0.274 NA 6 22 0 0 0 0 MYO5A 4644 broad.mit.edu 37 15 52620057 52620057 + Missense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr15:52620057C>G uc002aby.2 - 35 4871 c.4627G>C c.(4627-4629)GTA>CTA p.V1543L MYO5A_uc002abx.3_Missense_Mutation_p.V1516L|MYO5A_uc010ugd.1_Missense_Mutation_p.V265L NM_000259 NP_000250 Q9Y4I1 MYO5A_HUMAN myosin VA isoform 1 1543 Dilute. 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) ACCTTCAATACTTTTTTGATG 0.368 NA 26 102 0 0 0 0 WDR72 256764 broad.mit.edu 37 15 53809925 53809925 + Missense_Mutation SNP C C A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr15:53809925C>A uc002acj.2 - 20 3322 c.3280G>T c.(3280-3282)GCA>TCA p.A1094S WDR72_uc010bfh.1_RNA NM_182758 NP_877435 Q3MJ13 WDR72_HUMAN WD repeat domain 72 1094 lung(1)|skin(1) 2 all cancers(107;0.0511) CAGACCTTTGCTATCCATGAA 0.383 NA 6 81 2.01e-06 2.65e-06 1 0 GCNT3 9245 broad.mit.edu 37 15 59911580 59911580 + Silent SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr15:59911580C>G uc002age.2 + 3 1592 c.1143C>G c.(1141-1143)CCC>CCG p.P381P GCNT3_uc002agd.2_Silent_p.P381P NM_004751 NP_004742 O95395 GCNT3_HUMAN glucosaminyl (N-acetyl) transferase 3, mucin 381 Lumenal (Potential). protein O-linked glycosylation Golgi membrane|integral to membrane|membrane fraction beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity ovary(1)|central_nervous_system(1) 2 CTTATGCTCCCTGCTCTGGAA 0.522 NA 37 122 0 0 0 0 MTFMT 123263 broad.mit.edu 37 15 65316055 65316055 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr15:65316055C>T uc002aof.3 - 3 523 c.497G>A c.(496-498)GGA>GAA p.G166E NM_139242 NP_640335 Q96DP5 FMT_HUMAN mitochondrial methionyl-tRNA formyltransferase 166 mitochondrion methionyl-tRNA formyltransferase activity|methyltransferase activity ovary(2) 2 Tetrahydrofolic acid(DB00116) AACTGTGTCTCCGTGAAGCAC 0.398 NA 6 27 0 0 0 0 CYP11A1 1583 broad.mit.edu 37 15 74659879 74659879 + Nonsense_Mutation SNP G G T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr15:74659879G>T uc002axt.2 - 1 203 c.48C>A c.(46-48)TGC>TGA p.C16* CYP11A1_uc002axs.2_5'Flank|CYP11A1_uc010bjm.1_5'Flank|CYP11A1_uc010bjn.1_RNA|CYP11A1_uc010bjo.1_Nonsense_Mutation_p.C16*|CYP11A1_uc010ulj.1_5'UTR|CYP11A1_uc010bjq.2_Nonsense_Mutation_p.C16* NM_000781 NP_000772 P05108 CP11A_HUMAN cytochrome P450, family 11, subfamily A, 16 C -> Y (in Ref. 1; AAA52162). C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process mitochondrial matrix cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding ovary(2) 2 Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108) GAAAGGTCTGGCAGCCTTTGA 0.652 NA 6 39 3.6e-05 4.7e-05 1 0 FANCI 55215 broad.mit.edu 37 15 89802003 89802003 + Silent SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr15:89802003C>T uc010bnp.1 + 3 243 c.153C>T c.(151-153)TTC>TTT p.F51F FANCI_uc002bnm.1_Silent_p.F51F|FANCI_uc002bnn.1_RNA|FANCI_uc002bno.2_Silent_p.F51F NM_001113378 NP_001106849 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I isoform 51 cell cycle|DNA repair nucleoplasm protein binding ovary(2) 2 Lung NSC(78;0.0472)|all_lung(78;0.089) GAGCCATCTTCAAAGGTAATA 0.398 NA Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 14 93 0 0 0 0 C15orf42 90381 broad.mit.edu 37 15 90135363 90135363 + Missense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr15:90135363C>G uc002boe.2 + 5 1497 c.1497C>G c.(1495-1497)TTC>TTG p.F499L NM_152259 NP_689472 Q7Z2Z1 TICRR_HUMAN leucine-rich repeat kinase 1 499 cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation nucleus chromatin binding|protein binding ovary(4)|central_nervous_system(2)|skin(1) 7 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) GGTTTCCTTTCTGTAACATCA 0.443 NA 3 45 0 0 0 0 LRRC28 123355 broad.mit.edu 37 15 99903443 99903443 + Missense_Mutation SNP A A T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr15:99903443A>T uc002bva.1 + 9 1159 c.1004A>T c.(1003-1005)GAG>GTG p.E335V LRRC28_uc010urs.1_RNA|LRRC28_uc002bvb.1_Missense_Mutation_p.E181V|LRRC28_uc010urt.1_Missense_Mutation_p.E149V|LRRC28_uc002bvc.1_Intron|LRRC28_uc010uru.1_Missense_Mutation_p.E266V|LRRC28_uc002bvd.1_Intron NM_144598 NP_653199 Q86X40 LRC28_HUMAN leucine rich repeat containing 28 335 0 Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00106) CCCTTGAGAGAGACGCCAATG 0.582 NA 7 71 0 0 0 0 SOLH 6650 broad.mit.edu 37 16 597026 597026 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr16:597026C>T uc002chi.2 + 4 551 c.188C>T c.(187-189)GCC>GTC p.A63V SOLH_uc002chh.1_Missense_Mutation_p.A63V NM_005632 NP_005623 O75808 CAN15_HUMAN small optic lobes 63 RanBP2-type 2. proteolysis intracellular calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|breast(1) 2 Hepatocellular(780;0.00335) GGCAAGGAGGCCTGCGAGGTG 0.692 NA 5 25 0 0 0 0 ZNF174 7727 broad.mit.edu 37 16 3452340 3452340 + Missense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr16:3452340G>C uc002cvc.2 + 1 1151 c.336G>C c.(334-336)ATG>ATC p.M112I ZNF434_uc002cux.3_5'Flank|ZNF434_uc010uwx.1_5'Flank|ZNF434_uc002cuy.3_5'Flank|ZNF434_uc002cuz.2_5'Flank|ZNF434_uc010uwy.1_5'Flank|ZNF434_uc010uxa.1_5'Flank|ZNF174_uc002cva.2_Missense_Mutation_p.M112I|ZNF174_uc002cvb.2_Missense_Mutation_p.M112I NM_003450 NP_003441 Q15697 ZN174_HUMAN zinc finger protein 174 isoform a 112 SCAN box. negative regulation of transcription from RNA polymerase II promoter|viral reproduction actin cytoskeleton|cytoplasm|nucleus protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding 0 GATGTCCAATGAGCAGCAAGG 0.542 NA 19 57 0 0 0 0 PRM2 5620 broad.mit.edu 37 16 11370049 11370049 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr16:11370049C>T uc002dau.1 - 1 289 c.179G>A c.(178-180)CGA>CAA p.R60Q C16orf75_uc002daq.1_Intron|PRM3_uc002dat.1_5'Flank|PRM2_uc010bus.1_Missense_Mutation_p.R60Q NM_002762 NP_002753 P04554 PRM2_HUMAN protamine 2 60 chromosome condensation|multicellular organismal development nucleoplasm|nucleosome DNA binding 0 CAGCCTCCTTCGAGAGCAGTG 0.642 NA 25 76 0 0 0 0 ABCC6 368 broad.mit.edu 37 16 16255391 16255391 + Silent SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr16:16255391C>T uc002den.3 - 25 3574 c.3537G>A c.(3535-3537)GGG>GGA p.G1179G ABCC6_uc010bvo.2_RNA NM_001171 NP_001162 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C, member 6 1179 Helical; Name=16; (By similarity).|ABC transmembrane type-1 2. response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances skin(2)|ovary(1) 3 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) CCAGGCCATTCCCCAGGAGCT 0.602 NA 9 54 0 0 0 0 ERN2 10595 broad.mit.edu 37 16 23706160 23706160 + Silent SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr16:23706160G>A uc002dma.3 - 17 2302 c.2133C>T c.(2131-2133)CTC>CTT p.L711L ERN2_uc010bxp.2_Silent_p.L659L NM_033266 NP_150296 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signalling 2 663 Protein kinase.|Cytoplasmic (Potential). apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) GCTTCTTGCAGAGGCCGAAGT 0.647 NA 10 31 0 0 0 0 GTF3C1 2975 broad.mit.edu 37 16 27480793 27480793 + Silent SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr16:27480793C>G uc002dov.1 - 32 4933 c.4893G>C c.(4891-4893)CGG>CGC p.R1631R GTF3C1_uc002dou.2_Silent_p.R1631R NM_001520 NP_001511 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1631 transcription factor TFIIIC complex DNA binding|protein binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 CCTCCATGCTCCGGCGCTTGC 0.602 NA 15 53 0 0 0 0 MAZ 4150 broad.mit.edu 37 16 29821426 29821426 + Silent SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr16:29821426G>A uc002dty.2 + 5 1476 c.1308G>A c.(1306-1308)GCG>GCA p.A436A uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAZ_uc002dtv.1_Intron|MAZ_uc010vdx.1_Silent_p.A413A|MAZ_uc002dtw.2_Intron|MAZ_uc002dtx.2_3'UTR|MAZ_uc010bzg.2_Silent_p.A131A|MAZ_uc002dtz.1_3'UTR|MAZ_uc002dua.2_3'UTR|MAZ_uc010vdy.1_Silent_p.A37A|uc002duc.1_RNA|PRRT2_uc002dud.2_5'Flank|PRRT2_uc002due.3_5'Flank|PRRT2_uc002duf.1_5'Flank NM_002383 NP_002374 P56270 MAZ_HUMAN MYC-associated zinc finger protein isoform 1 436 Poly-Ala. regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter nucleus DNA binding|protein binding|RNA binding|zinc ion binding ovary(1) 1 CAATggcggcggcagcggcag 0.463 NA 15 41 0 0 0 0 MAZ 4150 broad.mit.edu 37 16 29821429 29821429 + Silent SNP A A G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr16:29821429A>G uc002dty.2 + 5 1479 c.1311A>G c.(1309-1311)GCA>GCG p.A437A uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAZ_uc002dtv.1_Intron|MAZ_uc010vdx.1_Silent_p.A414A|MAZ_uc002dtw.2_Intron|MAZ_uc002dtx.2_3'UTR|MAZ_uc010bzg.2_Silent_p.A132A|MAZ_uc002dtz.1_3'UTR|MAZ_uc002dua.2_3'UTR|MAZ_uc010vdy.1_Silent_p.A38A|uc002duc.1_RNA|PRRT2_uc002dud.2_5'Flank|PRRT2_uc002due.3_5'Flank|PRRT2_uc002duf.1_5'Flank NM_002383 NP_002374 P56270 MAZ_HUMAN MYC-associated zinc finger protein isoform 1 437 Poly-Ala. regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter nucleus DNA binding|protein binding|RNA binding|zinc ion binding ovary(1) 1 Tggcggcggcagcggcagcgg 0.468 NA 13 40 0 0 0 0 ZNF629 23361 broad.mit.edu 37 16 30794731 30794731 + Silent SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr16:30794731G>A uc002dzs.1 - 3 1126 c.918C>T c.(916-918)CTC>CTT p.L306L NM_001080417 NP_001073886 Q9UEG4 ZN629_HUMAN zinc finger protein 629 306 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(24;0.198) TCTGGTGCTTGAGGAGGTTGT 0.642 NA 18 95 0 0 0 0 CNOT1 23019 broad.mit.edu 37 16 58577583 58577583 + Missense_Mutation SNP C C A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr16:58577583C>A uc002env.2 - 31 4655 c.4362G>T c.(4360-4362)ATG>ATT p.M1454I CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.M1449I|CNOT1_uc002enx.2_Missense_Mutation_p.M1454I|CNOT1_uc010vik.1_Missense_Mutation_p.M411I NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 1454 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol ovary(4)|central_nervous_system(2) 6 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) TGCATGTAATCATAGCCATTC 0.438 NA 11 27 6.4e-05 8.34e-05 1 0 CDH3 1001 broad.mit.edu 37 16 68712542 68712542 + Nonsense_Mutation SNP G G T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr16:68712542G>T uc002ewf.2 + 5 1661 c.529G>T c.(529-531)GAG>TAG p.E177* CDH3_uc010vli.1_Nonsense_Mutation_p.E122* NM_001793 NP_001784 P22223 CADH3_HUMAN cadherin 3, type 1 preproprotein 177 Cadherin 1.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(1) ovary(3)|breast(1)|skin(1) 5 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) GGACCGGGAGGAGATTGCCAA 0.582 NA 17 83 2.49e-13 3.39e-13 1 0 TMCO7 79613 broad.mit.edu 37 16 68877575 68877575 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr16:68877575C>T uc002ewi.3 + 1 67 c.55C>T c.(55-57)CGG>TGG p.R19W TMCO7_uc002ewh.2_Missense_Mutation_p.R19W NM_024562 NP_078838 Q9C0B7 TMCO7_HUMAN transmembrane and coiled-coil domains 7 19 integral to membrane binding 0 Ovarian(137;0.0568) OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198) CGGTCTGGATCGGATTTTGGA 0.697 NA 15 131 0 0 0 0 ZC3H18 124245 broad.mit.edu 37 16 88665043 88665043 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr16:88665043G>A uc002fky.2 + 5 1053 c.853G>A c.(853-855)GAT>AAT p.D285N ZC3H18_uc010voy.1_Missense_Mutation_p.D168N|ZC3H18_uc010voz.1_Missense_Mutation_p.D309N NM_144604 NP_653205 Q86VM9 ZCH18_HUMAN zinc finger CCCH-type containing 18 285 Pro-rich. nucleus nucleic acid binding|zinc ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0542) GCCGGTAGTTGATGAAATTTT 0.468 NA 5 13 0 0 0 0 VPS53 55275 broad.mit.edu 37 17 530477 530477 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr17:530477C>T uc002frn.2 - 10 1058 c.911G>A c.(910-912)CGC>CAC p.R304H VPS53_uc002frk.2_5'UTR|VPS53_uc010cjo.1_Missense_Mutation_p.R304H|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Missense_Mutation_p.R275H|VPS53_uc002fro.2_Missense_Mutation_p.R106H|VPS53_uc010cjp.1_Intron NM_018289 NP_060759 Q5VIR6 VPS53_HUMAN vacuolar protein sorting 53 isoform 2 304 protein transport endosome membrane|Golgi apparatus 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0265) TGGAAACATGCGGCCGTATTT 0.498 NA 20 53 0 0 0 0 SLC25A11 8402 broad.mit.edu 37 17 4843164 4843164 + Silent SNP C C A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr17:4843164C>A uc002fzo.1 - 1 155 c.42G>T c.(40-42)GGG>GGT p.G14G SLC25A11_uc002fzp.1_5'UTR|RNF167_uc002fzq.2_5'Flank|RNF167_uc002fzr.2_5'Flank|RNF167_uc002fzs.2_5'Flank|RNF167_uc002fzt.2_5'Flank|RNF167_uc002fzu.2_5'Flank|RNF167_uc002fzv.2_5'Flank|RNF167_uc002fzw.1_5'Flank|RNF167_uc002fzx.2_5'Flank NM_003562 NP_003553 Q02978 M2OM_HUMAN solute carrier family 25 member 11 isoform 1 14 gluconeogenesis integral to plasma membrane|mitochondrial inner membrane oxoglutarate:malate antiporter activity 0 TACGGGGCTTCCCGTCTATCC 0.706 NA 4 25 1.24e-05 1.63e-05 1 0 C17orf74 201243 broad.mit.edu 37 17 7330298 7330298 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr17:7330298C>T uc002ggw.2 + 3 1061 c.988C>T c.(988-990)CGG>TGG p.R330W FGF11_uc010vtw.1_Intron NM_175734 NP_783861 Q0P670 CQ074_HUMAN hypothetical protein LOC201243 330 integral to membrane 0 Prostate(122;0.157) CTCGGTGTCCCGGAACGCCCG 0.692 NA 16 37 0 0 0 0 DNAH9 1770 broad.mit.edu 37 17 11584154 11584154 + Missense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr17:11584154G>C uc002gne.2 + 19 3759 c.3691G>C c.(3691-3693)GAT>CAT p.D1231H DNAH9_uc010coo.2_Missense_Mutation_p.D525H NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 1231 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) CACAGCCTTCGATGCAGAACA 0.522 NA 9 24 0 0 0 0 RASD1 51655 broad.mit.edu 37 17 17399349 17399349 + Silent SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr17:17399349G>A uc002gri.2 - 1 359 c.147C>T c.(145-147)TTC>TTT p.F49F NM_016084 NP_057168 Q9Y272 RASD1_HUMAN RAS, dexamethasone-induced 1 precursor 49 G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction nucleus|perinuclear region of cytoplasm|plasma membrane GTP binding|GTPase activity 0 AGGCGTCCTCGAAGCGGCCGG 0.622 NA 16 52 0 0 0 0 CCDC144B 284047 broad.mit.edu 37 17 18525853 18525853 + Missense_Mutation SNP T T C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr17:18525853T>C uc002gub.1 - 2 459 c.374A>G c.(373-375)GAA>GGA p.E125G CCDC144B_uc002gua.3_RNA|CCDC144B_uc010vyc.1_RNA|CCDC144B_uc002guc.1_Missense_Mutation_p.E125G NM_182568 NP_872374 coiled-coil domain containing 144B ovary(1)|skin(1) 2 TGTCTGTTTTTCCTTATATTC 0.274 NA 15 19 0 0 0 0 FAM83G 644815 broad.mit.edu 37 17 18881970 18881970 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr17:18881970C>T uc002guw.2 - 5 1176 c.1009G>A c.(1009-1011)GCG>ACG p.A337T SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron NM_001039999 NP_001035088 A6ND36 FA83G_HUMAN hypothetical protein LOC644815 337 ovary(1)|central_nervous_system(1) 2 ACAGTGCCCGCGGGCACCAGG 0.597 NA 40 148 0 0 0 0 SARM1 23098 broad.mit.edu 37 17 26711532 26711532 + Missense_Mutation SNP G G A rs147156050 byFrequency TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr17:26711532G>A uc010crl.1 + 6 1313 c.1246G>A c.(1246-1248)GAG>AAG p.E416K SARM1_uc010waj.1_RNA|SARM1_uc002hbe.1_5'Flank NM_015077 NP_055892 Q6SZW1 SARM1_HUMAN sterile alpha and TIR motif containing 1 416 SAM 1. innate immune response cytoplasm|intrinsic to membrane binding|transmembrane receptor activity 0 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) GAAGGAGGCCGAGGTTCAGAC 0.677 NA 7 30 0 0 0 0 SARM1 23098 broad.mit.edu 37 17 26711577 26711577 + Missense_Mutation SNP G G A rs137938585 by1000genomes TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr17:26711577G>A uc010crl.1 + 6 1358 c.1291G>A c.(1291-1293)GAG>AAG p.E431K SARM1_uc010waj.1_RNA|SARM1_uc002hbe.1_5'Flank NM_015077 NP_055892 Q6SZW1 SARM1_HUMAN sterile alpha and TIR motif containing 1 431 SAM 1. innate immune response cytoplasm|intrinsic to membrane binding|transmembrane receptor activity 0 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) CAAGTACTGCGAGAGCTTCCG 0.682 NA 6 18 0 0 0 0 LRRC37B 114659 broad.mit.edu 37 17 30349151 30349151 + Missense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr17:30349151C>G uc002hgu.2 + 1 997 c.986C>G c.(985-987)CCA>CGA p.P329R LRRC37B_uc010wbx.1_Missense_Mutation_p.P247R|LRRC37B_uc010csu.2_Missense_Mutation_p.P329R NM_052888 NP_443120 Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B precursor 329 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) GTTCAACCTCCAGGTGAGGAT 0.473 NA 34 132 0 0 0 0 SLFN12 55106 broad.mit.edu 37 17 33738501 33738501 + Silent SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr17:33738501C>T uc002hji.3 - 4 1970 c.1593G>A c.(1591-1593)CTG>CTA p.L531L SLFN12_uc002hjj.3_Silent_p.L531L|SLFN12_uc010cts.2_Silent_p.L531L NM_018042 NP_060512 Q8IYM2 SLN12_HUMAN schlafen family member 12 531 ATP binding skin(1) 1 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AAAGGGCTTTCAGCAAGTATT 0.388 NA 15 60 0 0 0 0 GSDMB 55876 broad.mit.edu 37 17 38066128 38066128 + Missense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr17:38066128C>G uc010cwj.2 - 3 462 c.457G>C c.(457-459)GAA>CAA p.E153Q GSDMB_uc010cwi.2_5'Flank|GSDMB_uc010cwk.2_RNA|GSDMB_uc010cwl.2_RNA|GSDMB_uc010cwm.2_Intron|GSDMB_uc002htg.2_Missense_Mutation_p.E153Q|GSDMB_uc002hth.2_Missense_Mutation_p.E153Q|GSDMB_uc010wem.1_Missense_Mutation_p.E153Q NM_001042471 NP_001035936 Q8TAX9 GSDMB_HUMAN gasdermin B isoform 1 153 cytoplasm breast(1)|pancreas(1) 2 TACAGGTTTTCTCTCGTATTA 0.473 NA 20 60 0 0 0 0 DGKE 8526 broad.mit.edu 37 17 54912414 54912414 + Missense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr17:54912414C>G uc002iur.2 + 2 438 c.258C>G c.(256-258)TTC>TTG p.F86L DGKE_uc002ius.1_Missense_Mutation_p.F86L|C17orf67_uc002iuq.2_5'Flank NM_003647 NP_003638 P52429 DGKE_HUMAN diacylglycerol kinase epsilon 86 Phorbol-ester/DAG-type 1. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding breast(2) 2 Breast(9;3.59e-07) AGGGCGCCTTCTGCGACTGCT 0.627 NA 11 43 0 0 0 0 SCPEP1 59342 broad.mit.edu 37 17 55075841 55075841 + Nonsense_Mutation SNP G G T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr17:55075841G>T uc002iuv.3 + 10 1029 c.976G>T c.(976-978)GAG>TAG p.E326* SCPEP1_uc010dcl.2_RNA|SCPEP1_uc010wnk.1_Nonsense_Mutation_p.E276* NM_021626 NP_067639 Q9HB40 RISC_HUMAN serine carboxypeptidase 1 precursor 326 proteolysis extracellular region serine-type carboxypeptidase activity skin(1) 1 Breast(9;2.86e-08) AATTATTCCTGAGGATCAATC 0.438 NA 23 59 5.35e-11 7.25e-11 1 0 EPX 8288 broad.mit.edu 37 17 56276417 56276417 + Silent SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr17:56276417G>A uc002ivq.2 + 8 1223 c.1137G>A c.(1135-1137)ACG>ACA p.T379T NM_000502 NP_000493 P11678 PERE_HUMAN eosinophil peroxidase preproprotein 379 hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding ovary(2) 2 CCCGATCAACGGAAACCCCCA 0.567 NA 8 20 0 0 0 0 BZRAP1 9256 broad.mit.edu 37 17 56403660 56403660 + Silent SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr17:56403660C>T uc002ivx.3 - 3 1435 c.564G>A c.(562-564)CTG>CTA p.L188L BZRAP1_uc010dcs.2_Silent_p.L188L|BZRAP1_uc010wnt.1_Silent_p.L188L|uc010dct.1_5'Flank|uc010dcu.1_5'Flank NM_004758 NP_004749 O95153 RIMB1_HUMAN peripheral benzodiazepine receptor-associated 188 mitochondrion benzodiazepine receptor binding upper_aerodigestive_tract(2)|skin(1) 3 Medulloblastoma(34;0.127)|all_neural(34;0.237) TCACCACCCTCAGGTTCGTTT 0.637 NA 23 48 0 0 0 0 BRIP1 83990 broad.mit.edu 37 17 59885908 59885908 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr17:59885908C>T uc002izk.1 - 7 979 c.838G>A c.(838-840)GAT>AAT p.D280N NM_032043 NP_114432 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 280 Helicase ATP-binding. DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding ovary(1) 1 CAAGTATGATCCCTGCTGGAA 0.438 NA F|N|Mis AML|leukemia|breast Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 16 64 0 0 0 0 FDXR 2232 broad.mit.edu 37 17 72860147 72860147 + Missense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr17:72860147C>G uc002jly.2 - 10 1132 c.1045G>C c.(1045-1047)GAA>CAA p.E349Q FDXR_uc010wri.1_Missense_Mutation_p.E297Q|FDXR_uc010wrj.1_Missense_Mutation_p.E347Q|FDXR_uc002jlw.2_Missense_Mutation_p.E106Q|FDXR_uc002jlx.2_Missense_Mutation_p.E355Q|FDXR_uc002jmc.2_Missense_Mutation_p.E321Q|FDXR_uc010wrk.1_Missense_Mutation_p.E380Q|FDXR_uc010wrl.1_Missense_Mutation_p.E392Q|FDXR_uc002jma.2_Missense_Mutation_p.E350Q|FDXR_uc010wrm.1_Missense_Mutation_p.E309Q|FDXR_uc002jlz.2_Missense_Mutation_p.E341Q|FDXR_uc002jmb.2_Intron NM_024417 NP_077728 P22570 ADRO_HUMAN ferredoxin reductase isoform 1 precursor 349 cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport mitochondrial matrix ferredoxin-NADP+ reductase activity|protein binding 0 all_lung(278;0.172)|Lung NSC(278;0.207) GGGAGGTCTTCCATGTCTCCC 0.632 NA 8 75 0 0 0 0 ZACN 353174 broad.mit.edu 37 17 74077661 74077661 + Silent SNP C C T rs143332874 TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr17:74077661C>T uc002jqn.2 + 7 788 c.705C>T c.(703-705)ATC>ATT p.I235I ZACN_uc002jqo.2_RNA|ZACN_uc010dgu.2_Intron|EXOC7_uc002jqp.1_3'UTR|EXOC7_uc010dgv.1_3'UTR|EXOC7_uc002jqs.2_3'UTR|EXOC7_uc002jqq.2_3'UTR|EXOC7_uc010wsw.1_3'UTR|EXOC7_uc010wsx.1_3'UTR|EXOC7_uc002jqr.2_3'UTR|EXOC7_uc010wsv.1_3'UTR NM_180990 NP_851321 Q401N2 ZACN_HUMAN zinc activated ligand-gated ion channel 235 Leu-rich.|Helical; Name=1; (Potential). response to zinc ion integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity 0 AGTCCATCATCGCTCTCTTGG 0.642 NA 31 98 0 0 0 0 ZNF521 25925 broad.mit.edu 37 18 22805237 22805237 + Missense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr18:22805237G>C uc002kvk.2 - 4 2892 c.2645C>G c.(2644-2646)TCT>TGT p.S882C ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.S882C|ZNF521_uc002kvl.2_Missense_Mutation_p.S662C NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 882 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) CATAGGCTCAGAGGTGTCAAC 0.532 NA T PAX5 ALL 18 69 0 0 0 0 ASXL3 80816 broad.mit.edu 37 18 31320039 31320039 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr18:31320039G>A uc010dmg.1 + 11 2726 c.2671G>A c.(2671-2673)GAT>AAT p.D891N ASXL3_uc002kxq.2_Missense_Mutation_p.D598N NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 891 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 TGAAGGGACAGATAATAAGGG 0.348 NA 9 53 0 0 0 0 ZNF396 252884 broad.mit.edu 37 18 32954025 32954025 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr18:32954025G>A uc010xcf.1 - 2 364 c.232C>T c.(232-234)CAT>TAT p.H78Y NM_145756 NP_665699 Q96N95 ZN396_HUMAN zinc finger protein 396 78 SCAN box. viral reproduction cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 AGCCAGAGATGACAAAGTTCC 0.597 NA 13 74 0 0 0 0 SETBP1 26040 broad.mit.edu 37 18 42531993 42531993 + Silent SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr18:42531993C>T uc010dni.2 + 4 2984 c.2688C>T c.(2686-2688)TTC>TTT p.F896F NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 896 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) CTTTTGATTTCTGCTCCCTGG 0.557 NA Schinzel-Giedion_syndrome 12 24 0 0 0 0 NETO1 81832 broad.mit.edu 37 18 70526106 70526106 + Missense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr18:70526106C>G uc002lkw.2 - 4 708 c.424G>C c.(424-426)GAG>CAG p.E142Q NETO1_uc002lkx.1_Missense_Mutation_p.E141Q|NETO1_uc002lky.1_Missense_Mutation_p.E142Q|NETO1_uc002lkz.2_Missense_Mutation_p.E141Q NM_138966 NP_620416 Q8TDF5 NETO1_HUMAN neuropilin- and tolloid-like protein 1 isoform 3 142 CUB 1.|Extracellular (Potential). memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity ovary(2)|skin(2) 4 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) GATTCCAGCTCTCCATCAGCA 0.338 NA 14 37 0 0 0 0 BSG 682 broad.mit.edu 37 19 579570 579570 + Silent SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr19:579570C>T uc002loz.2 + 3 584 c.486C>T c.(484-486)AGC>AGT p.S162S BSG_uc002loy.2_Intron|BSG_uc002lpa.2_Silent_p.S46S|BSG_uc002lpb.2_RNA|BSG_uc010drr.2_Silent_p.S46S|BSG_uc002lpc.2_Silent_p.S209S|BSG_uc002lpd.2_5'Flank NM_001728 NP_001719 P35613 BASI_HUMAN basigin isoform 1 precursor 162 Extracellular (Potential).|Ig-like C2-type. blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process Golgi membrane|integral to membrane|melanosome lactate transmembrane transporter activity|mannose binding|protein binding 0 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGAATGACAGCGCCACAGAGG 0.627 NA 16 45 0 0 0 0 HCN2 610 broad.mit.edu 37 19 603773 603773 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr19:603773C>T uc002lpe.2 + 2 915 c.862C>T c.(862-864)CGC>TGC p.R288C NM_001194 NP_001185 Q9UL51 HCN2_HUMAN hyperpolarization activated cyclic 288 Cytoplasmic (Potential). cell-cell signaling|muscle contraction voltage-gated potassium channel complex cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity 0 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GAAGTATCTGCGCACGTGGTT 0.547 NA 7 66 0 0 0 0 ATP8B3 148229 broad.mit.edu 37 19 1800407 1800407 + Silent SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr19:1800407G>A uc002ltw.2 - 13 1428 c.1194C>T c.(1192-1194)TTC>TTT p.F398F ATP8B3_uc002ltv.2_Silent_p.F351F|ATP8B3_uc002ltx.2_RNA|ATP8B3_uc002lty.1_Silent_p.F146F|ATP8B3_uc002ltz.1_Silent_p.F345F NM_138813 NP_620168 O60423 AT8B3_HUMAN ATPase, class I, type 8B, member 3 398 Helical; (Potential). ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AACCGAAGCCGAAGGCCAACA 0.597 NA 22 78 0 0 0 0 SEMA6B 10501 broad.mit.edu 37 19 4554425 4554425 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr19:4554425G>A uc010duc.1 - 8 784 c.746C>T c.(745-747)GCG>GTG p.A249V SEMA6B_uc010dud.2_Missense_Mutation_p.A249V|SEMA6B_uc010xih.1_Missense_Mutation_p.A249V NM_032108 NP_115484 Q9H3T3 SEM6B_HUMAN semaphorin 6B precursor 249 Extracellular (Potential).|Sema. cell differentiation|nervous system development integral to membrane receptor activity skin(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) AAACTCCATCGCAATCTCCCG 0.567 NA 7 48 0 0 0 0 GTF2F1 2962 broad.mit.edu 37 19 6389547 6389547 + Missense_Mutation SNP C C A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr19:6389547C>A uc002meq.2 - 4 519 c.234G>T c.(232-234)GAG>GAT p.E78D GTF2F1_uc010xjb.1_5'Flank|GTF2F1_uc010xjc.1_Missense_Mutation_p.E50D NM_002096 NP_002087 P35269 T2FA_HUMAN general transcription factor IIF, polypeptide 1, 78 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cell junction|transcription factor TFIIF complex catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding 0 TCCTCCGAGCCTCCTCCCGAA 0.607 NA 35 166 2.42e-17 3.33e-17 1 0 EVI5L 115704 broad.mit.edu 37 19 7912766 7912766 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr19:7912766G>A uc002min.2 + 3 440 c.286G>A c.(286-288)GAG>AAG p.E96K EVI5L_uc010xjz.1_Missense_Mutation_p.E96K NM_145245 NP_660288 Q96CN4 EVI5L_HUMAN ecotropic viral integration site 5-like isoform 96 intracellular protein binding|Rab GTPase activator activity ovary(1) 1 GATCGCCAACGAGTGGGAGGA 0.697 NA 4 7 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9067629 9067629 + Missense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr19:9067629G>C uc002mkp.2 - 3 20021 c.19817C>G c.(19816-19818)TCT>TGT p.S6606C NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 6608 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 AGACGAATAAGATTCCTTTTC 0.433 NA 6 192 0 0 0 0 OR7G3 390883 broad.mit.edu 37 19 9237045 9237045 + Silent SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr19:9237045G>A uc010xkl.1 - 1 582 c.582C>T c.(580-582)ATC>ATT p.I194I NM_001001958 NP_001001958 Q8NG95 OR7G3_HUMAN olfactory receptor, family 7, subfamily G, 194 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GGATGTTATTGATGAGGACAT 0.443 NA 23 67 0 0 0 0 AP1M1 8907 broad.mit.edu 37 19 16314374 16314374 + Silent SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr19:16314374C>T uc002ndu.2 + 2 320 c.147C>T c.(145-147)ATC>ATT p.I49I AP1M1_uc002ndv.2_Silent_p.I49I|AP1M1_uc010xpd.1_Silent_p.I49I NM_032493 NP_115882 Q9BXS5 AP1M1_HUMAN adaptor-related protein complex 1, mu 1 subunit 49 cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding ovary(3)|breast(1) 4 TGTCGCCCATCCTGGCCCACG 0.592 NA 20 44 0 0 0 0 ZNF253 56242 broad.mit.edu 37 19 20002713 20002713 + Silent SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr19:20002713G>A uc002noj.2 + 4 749 c.657G>A c.(655-657)AAG>AAA p.K219K ZNF253_uc002nok.2_Silent_p.K143K|ZNF253_uc002nol.2_RNA NM_021047 NP_066385 O75346 ZN253_HUMAN zinc finger protein 253 219 C2H2-type 2. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CTACACATAAGAGAATTCATA 0.383 NA 12 47 0 0 0 0 ZNF536 9745 broad.mit.edu 37 19 30934667 30934667 + Silent SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr19:30934667G>A uc002nsu.1 + 2 336 c.198G>A c.(196-198)GAG>GAA p.E66E ZNF536_uc010edd.1_Silent_p.E66E NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 66 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) CCCTGGAGGAGAAGGCCCACG 0.687 NA 14 48 0 0 0 0 ZNF540 163255 broad.mit.edu 37 19 38102931 38102931 + Missense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr19:38102931G>C uc002ogq.2 + 5 1082 c.750G>C c.(748-750)AAG>AAC p.K250N ZNF540_uc002ogu.2_Missense_Mutation_p.K250N|ZNF540_uc010efq.2_Missense_Mutation_p.K218N NM_152606 NP_689819 Q8NDQ6 ZN540_HUMAN zinc finger protein 540 250 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AATGTGGGAAGACCTTTACTC 0.353 NA 7 34 0 0 0 0 FCGBP 8857 broad.mit.edu 37 19 40376432 40376432 + Missense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr19:40376432G>C uc002omp.3 - 25 11880 c.11872C>G c.(11872-11874)CTG>GTG p.L3958V NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 3958 TIL 9.|Cys-rich. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GGGCACTGCAGAGGGGCACTG 0.632 NA 5 29 0 0 0 0 HIPK4 147746 broad.mit.edu 37 19 40889957 40889957 + Missense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr19:40889957C>G uc002onp.2 - 2 840 c.555G>C c.(553-555)GAG>GAC p.E185D NM_144685 NP_653286 Q8NE63 HIPK4_HUMAN homeodomain interacting protein kinase 4 185 Protein kinase. cytoplasm ATP binding|protein serine/threonine kinase activity ovary(1)|stomach(1) 2 Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292) CCAGCAGGATCTCAGGGGCCC 0.632 NA 16 57 0 0 0 0 PRX 57716 broad.mit.edu 37 19 40900746 40900746 + Missense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr19:40900746C>G uc002onr.2 - 7 3782 c.3513G>C c.(3511-3513)CAG>CAC p.Q1171H PRX_uc002onq.2_Missense_Mutation_p.Q1032H|PRX_uc002ons.2_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN periaxin isoform 2 1171 Glu-rich (acidic). axon ensheathment cytoplasm|nucleus|plasma membrane protein binding ovary(2) 2 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GGACTGTACTCTGAGCCTGCT 0.662 NA 4 132 0 0 0 0 ATP1A3 478 broad.mit.edu 37 19 42482830 42482830 + Silent SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr19:42482830G>A uc002osg.2 - 12 1712 c.1558C>T c.(1558-1560)CTG>TTG p.L520L ATP1A3_uc010xwf.1_Silent_p.L531L|ATP1A3_uc010xwg.1_Silent_p.L490L|ATP1A3_uc010xwh.1_Silent_p.L533L|ATP1A3_uc002osh.2_Silent_p.L520L NM_152296 NP_689509 P13637 AT1A3_HUMAN Na+/K+ -ATPase alpha 3 subunit 520 Cytoplasmic (Potential). ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(1)|pancreas(1) 2 TCCTCGTCCAGAGGCTGCTCC 0.657 NA 19 89 0 0 0 0 ZNF284 342909 broad.mit.edu 37 19 44590114 44590114 + Silent SNP C C A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr19:44590114C>A uc002oyg.1 + 5 699 c.483C>A c.(481-483)ATC>ATA p.I161I ZNF284_uc010ejd.2_RNA NM_001037813 NP_001032902 Q2VY69 ZN284_HUMAN zinc finger protein 284 161 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0435) ATGTCTCCATCCTTGATCTTC 0.408 NA 8 23 0.000157383 0.00020444 1 0 PVRL2 5819 broad.mit.edu 37 19 45391518 45391518 + Missense_Mutation SNP A A G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr19:45391518A>G uc002ozw.1 + 9 1889 c.1499A>G c.(1498-1500)GAG>GGG p.E500G TOMM40_uc002ozx.3_5'Flank|TOMM40_uc002ozy.3_5'Flank|TOMM40_uc002paa.3_5'Flank|TOMM40_uc002ozz.2_5'Flank NM_001042724 NP_001036189 Q92692 PVRL2_HUMAN poliovirus receptor related 2 isoform delta 500 Cytoplasmic (Potential). adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor cell surface|integral to membrane|zonula adherens cell adhesion molecule binding|coreceptor activity|protein homodimerization activity 0 Lung NSC(12;0.00195)|all_lung(12;0.00522) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0143) gaggagggggaggaggaggaa 0.483 NA 10 49 0 0 0 0 SLC1A5 6510 broad.mit.edu 37 19 47290911 47290911 + Missense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr19:47290911G>C uc002pfs.2 - 1 932 c.312C>G c.(310-312)ATC>ATG p.I104M SLC1A5_uc010xyh.1_5'Flank|SLC1A5_uc002pfq.2_5'Flank|SLC1A5_uc002pfr.2_5'Flank NM_005628 NP_005619 Q15758 AAAT_HUMAN solute carrier family 1 member 5 isoform 1 104 Helical; (Potential). cellular nitrogen compound metabolic process integral to plasma membrane|melanosome|membrane fraction neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity 0 all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107) OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341) L-Asparagine(DB00174)|L-Glutamine(DB00130) CCAGCGGCAAGATGATCATCC 0.721 NA 4 13 0 0 0 0 CYTH2 9266 broad.mit.edu 37 19 48981790 48981790 + Missense_Mutation SNP G G T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr19:48981790G>T uc002pjj.3 + 12 1356 c.1056G>T c.(1054-1056)ATG>ATT p.M352I CYTH2_uc002pji.2_RNA NM_017457 NP_059431 Q99418 CYH2_HUMAN cytohesin 2 isoform 1 352 PH. actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|membrane fraction|plasma membrane ARF guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 GAAACCACATGGTGTACCGGA 0.458 NA 9 60 0.000274275 0.000354501 1 0 CPT1C 126129 broad.mit.edu 37 19 50208329 50208329 + Silent SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr19:50208329C>T uc002ppj.2 + 8 1042 c.837C>T c.(835-837)CTC>CTT p.L279L CPT1C_uc002ppl.3_Silent_p.L245L|CPT1C_uc002ppi.2_Silent_p.L196L|CPT1C_uc002ppk.2_Silent_p.L268L|CPT1C_uc010eng.2_Silent_p.L279L|CPT1C_uc010enh.2_Silent_p.L279L|CPT1C_uc010ybc.1_Silent_p.L117L|CPT1C_uc010eni.1_5'Flank NM_152359 NP_689572 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C isoform 2 279 Cytoplasmic (Potential). fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) TCCATGCCCTCCTCCTGTACC 0.652 NA 21 66 0 0 0 0 ZNF473 25888 broad.mit.edu 37 19 50549839 50549839 + Missense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr19:50549839G>C uc002prn.2 + 5 2376 c.2139G>C c.(2137-2139)CAG>CAC p.Q713H ZNF473_uc002prm.2_Missense_Mutation_p.Q713H|ZNF473_uc010ybo.1_Missense_Mutation_p.Q701H NM_001006656 NP_001006657 Q8WTR7 ZN473_HUMAN zinc finger protein 473 713 C2H2-type 15. histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) CGTTCCGTCAGAGCTCATGCC 0.502 NA OREG0025632 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 82 0 0 0 0 MYBPC2 4606 broad.mit.edu 37 19 50951529 50951529 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr19:50951529G>A uc002psf.2 + 13 1405 c.1354G>A c.(1354-1356)GCC>ACC p.A452T NM_004533 NP_004524 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 452 Ig-like C2-type 4. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) GACGGTGAAGGCCTCAGAACA 0.507 NA 5 53 0 0 0 0 ZNF175 7728 broad.mit.edu 37 19 52090088 52090088 + Missense_Mutation SNP C C A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr19:52090088C>A uc002pxb.2 + 5 882 c.504C>A c.(502-504)AAC>AAA p.N168K NM_007147 NP_009078 Q9Y473 ZN175_HUMAN zinc finger protein 175 168 response to virus cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257) AAACATTGAACACAGAAAGCA 0.413 NA 18 49 3.33e-07 4.43e-07 1 0 NLRP12 91662 broad.mit.edu 37 19 54308652 54308652 + Missense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr19:54308652G>C uc002qch.3 - 5 2516 c.2296C>G c.(2296-2298)CTC>GTC p.L766V NLRP12_uc010eqw.2_Missense_Mutation_p.L49V|NLRP12_uc002qci.3_Missense_Mutation_p.L766V|NLRP12_uc002qcj.3_Missense_Mutation_p.L767V|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.L767V NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 766 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) TTGGCTATGAGAGCTGCAGAG 0.557 NA 13 105 0 0 0 0 CACNG6 59285 broad.mit.edu 37 19 54496185 54496185 + Silent SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr19:54496185G>A uc002qct.2 + 1 644 c.54G>A c.(52-54)GCG>GCA p.A18A CACNG6_uc002qcu.2_Silent_p.A18A|CACNG6_uc002qcv.2_Silent_p.A18A NM_145814 NP_665813 Q9BXT2 CCG6_HUMAN voltage-dependent calcium channel gamma-6 18 voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(2) 2 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.168) ggggggccgcgggccggcggc 0.567 NA 4 18 0 0 0 0 EPS8L1 54869 broad.mit.edu 37 19 55593493 55593493 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr19:55593493C>T uc002qis.3 + 10 1039 c.935C>T c.(934-936)TCG>TTG p.S312L EPS8L1_uc010ess.1_Missense_Mutation_p.S294L|EPS8L1_uc010est.1_Missense_Mutation_p.S312L|EPS8L1_uc010yfr.1_Missense_Mutation_p.S248L|EPS8L1_uc010esu.1_RNA|EPS8L1_uc002qiu.2_Missense_Mutation_p.S185L|EPS8L1_uc002qiv.2_5'UTR|EPS8L1_uc002qiw.2_Missense_Mutation_p.S59L NM_133180 NP_573441 Q8TE68 ES8L1_HUMAN epidermal growth factor receptor pathway 312 cytoplasm 0 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) AAGCCGCCCTCGGAGGCCGAG 0.582 NA 7 6 0 0 0 0 ZNF543 125919 broad.mit.edu 37 19 57840200 57840200 + Missense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr19:57840200G>C uc002qoi.1 + 4 1715 c.1370G>C c.(1369-1371)GGA>GCA p.G457A NM_213598 NP_998763 Q08ER8 ZN543_HUMAN zinc finger protein 543 457 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1)|pancreas(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) AAAGAATGTGGAAAAGCCTTT 0.488 NA 15 52 0 0 0 0 ZNF446 55663 broad.mit.edu 37 19 58991811 58991811 + Silent SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr19:58991811G>A uc002qsz.2 + 7 1188 c.1071G>A c.(1069-1071)GGG>GGA p.G357G ZNF446_uc002qta.2_Missense_Mutation_p.G329D|ZNF446_uc010eur.2_3'UTR|SLC27A5_uc002qtb.2_RNA NM_017908 NP_060378 Q9NWS9 ZN446_HUMAN zinc finger protein 446 357 C2H2-type 1. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) ACACGAGTGGGCCAGGTGTGC 0.662 NA 11 40 0 0 0 0 ATP6V1C2 245973 broad.mit.edu 37 2 10917766 10917766 + Missense_Mutation SNP T T C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr2:10917766T>C uc002ras.2 + 11 990 c.881T>C c.(880-882)GTT>GCT p.V294A ATP6V1C2_uc002rat.2_Intron NM_001039362 NP_001034451 Q8NEY4 VATC2_HUMAN vacuolar H+ ATPase C2 isoform a 294 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting V-type ATPase, V1 domain ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152) GACCACAAGGTTAAGGTAACC 0.512 NA 17 55 0 0 0 0 APOB 338 broad.mit.edu 37 2 21231537 21231537 + Missense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr2:21231537C>G uc002red.2 - 26 8331 c.8203G>C c.(8203-8205)GAC>CAC p.D2735H NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 2735 Missing (in Ref. 15; AAA51758). 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) ATGTGAAGGTCAGGAACTTGA 0.418 NA 22 116 0 0 0 0 THUMPD2 80745 broad.mit.edu 37 2 39997221 39997221 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr2:39997221C>T uc002rru.2 - 3 338 c.301G>A c.(301-303)GAT>AAT p.D101N THUMPD2_uc002rrv.2_RNA|THUMPD2_uc010ynt.1_Missense_Mutation_p.D8N|THUMPD2_uc010ynu.1_Missense_Mutation_p.D101N NM_025264 NP_079540 Q9BTF0 THUM2_HUMAN THUMP domain containing 2 101 methyltransferase activity skin(1) 1 all_hematologic(82;0.248) CTTCCTGGATCTTCATTTATA 0.289 NA 5 36 0 0 0 0 THUMPD2 80745 broad.mit.edu 37 2 39997224 39997224 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr2:39997224C>T uc002rru.2 - 3 335 c.298G>A c.(298-300)GAA>AAA p.E100K THUMPD2_uc002rrv.2_RNA|THUMPD2_uc010ynt.1_Missense_Mutation_p.E7K|THUMPD2_uc010ynu.1_Missense_Mutation_p.E100K NM_025264 NP_079540 Q9BTF0 THUM2_HUMAN THUMP domain containing 2 100 methyltransferase activity skin(1) 1 all_hematologic(82;0.248) CCTGGATCTTCATTTATAAGT 0.299 NA 5 35 0 0 0 0 ZFP36L2 678 broad.mit.edu 37 2 43451806 43451806 + Silent SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr2:43451806C>T uc002rsv.3 - 2 1428 c.1137G>A c.(1135-1137)CAG>CAA p.Q379Q LOC100129726_uc010ynx.1_5'Flank NM_006887 NP_008818 P47974 TISD_HUMAN zinc finger protein 36, C3H type-like 2 379 cell proliferation nucleus DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824) AGTTGTGGGTCTGGATGGCGA 0.393 NA 6 14 0 0 0 0 SOCS5 9655 broad.mit.edu 37 2 46986960 46986960 + Missense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr2:46986960G>C uc002rvf.2 + 2 1455 c.1291G>C c.(1291-1293)GAG>CAG p.E431Q SOCS5_uc010yoe.1_Missense_Mutation_p.E400Q|SOCS5_uc002rvg.2_Missense_Mutation_p.E431Q NM_014011 NP_054730 O75159 SOCS5_HUMAN suppressor of cytokine signaling 5 431 SH2. cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth ovary(1)|lung(1)|central_nervous_system(1) 3 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) TGCCCGAATTGAGCAGTGGAA 0.493 NA 32 87 0 0 0 0 KLRAQ1 129285 broad.mit.edu 37 2 48687279 48687279 + Nonsense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr2:48687279C>T uc002rwm.2 + 6 771 c.586C>T c.(586-588)CGA>TGA p.R196* KLRAQ1_uc002rwi.1_Nonsense_Mutation_p.R196*|KLRAQ1_uc002rwj.2_Nonsense_Mutation_p.R196*|KLRAQ1_uc002rwl.2_Nonsense_Mutation_p.R150*|KLRAQ1_uc002rwk.2_Nonsense_Mutation_p.R196*|KLRAQ1_uc010yok.1_Nonsense_Mutation_p.R196* NM_001135629 NP_001129101 Q6ZMI0 KLRAQ_HUMAN KLRAQ motif containing 1 isoform 1 196 Potential. ovary(1) 1 ATGTCGACTTCGAACGGAAGA 0.403 NA 11 21 0 0 0 0 NRXN1 9378 broad.mit.edu 37 2 50765639 50765639 + Missense_Mutation SNP C C A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr2:50765639C>A uc010fbq.2 - 10 3492 c.2015G>T c.(2014-2016)TGG>TTG p.W672L NRXN1_uc002rxb.3_Missense_Mutation_p.W304L|NRXN1_uc002rxe.3_Missense_Mutation_p.W632L|NRXN1_uc002rxc.1_RNA NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor Error:Variant_position_missing_in_P58400_after_alignment angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CAGAGCAGTCCACACCTCGGT 0.517 NA 15 186 1.05e-09 1.42e-09 1 0 SMEK2 57223 broad.mit.edu 37 2 55792169 55792169 + Missense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr2:55792169G>C uc002rzc.2 - 14 2319 c.1944C>G c.(1942-1944)ATC>ATG p.I648M SMEK2_uc002rzb.2_Missense_Mutation_p.I563M|SMEK2_uc002rzd.2_Missense_Mutation_p.I616M|SMEK2_uc002ryz.2_Missense_Mutation_p.I82M|SMEK2_uc002rza.2_Missense_Mutation_p.I439M NM_001122964 NP_001116436 Q5MIZ7 P4R3B_HUMAN SMEK homolog 2, suppressor of mek1 isoform 1 648 microtubule organizing center|nucleus protein binding skin(1) 1 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TAAGAGACTTGATATCTTCCT 0.279 NA 2 9 0 0 0 0 SMEK2 57223 broad.mit.edu 37 2 55806911 55806911 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr2:55806911C>T uc002rzc.2 - 9 1747 c.1372G>A c.(1372-1374)GAA>AAA p.E458K SMEK2_uc002rzb.2_Missense_Mutation_p.E458K|SMEK2_uc002rzd.2_Missense_Mutation_p.E458K|SMEK2_uc002rza.2_Missense_Mutation_p.E334K NM_001122964 NP_001116436 Q5MIZ7 P4R3B_HUMAN SMEK homolog 2, suppressor of mek1 isoform 1 458 microtubule organizing center|nucleus protein binding skin(1) 1 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TCACTTTTTTCGGTTTTCTGA 0.308 NA 10 25 0 0 0 0 APLF 200558 broad.mit.edu 37 2 68805097 68805097 + Missense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr2:68805097G>C uc002sep.2 + 10 1652 c.1479G>C c.(1477-1479)GAG>GAC p.E493D APLF_uc002seq.1_RNA|APLF_uc002ser.1_Missense_Mutation_p.E224D NM_173545 NP_775816 Q8IW19 APLF_HUMAN aprataxin and PNKP like factor 493 Potential. double-strand break repair|single strand break repair cytosol|nucleus 3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding ovary(2) 2 AAGATGAAGAGAAGGAAGATG 0.373 NA 9 36 0 0 0 0 ANKRD53 79998 broad.mit.edu 37 2 71211740 71211740 + Splice_Site SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr2:71211740G>C uc002shl.3 + 6 1105 c.904_splice c.e6-1 p.K302_splice ANKRD53_uc002shk.3_Splice_Site_p.*344_splice|ANKRD53_uc002shm.3_Splice_Site_p.*255_splice NM_001115116 NP_001108588 Q8N9V6 ANR53_HUMAN ankyrin repeat domain 53 isoform a 0 TGTTGTTGCAGAAAGAGCACA 0.547 NA OREG0014687 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 99 0 0 0 0 MPHOSPH10 10199 broad.mit.edu 37 2 71360440 71360440 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr2:71360440G>A uc002sht.1 + 2 854 c.502G>A c.(502-504)GAT>AAT p.D168N MPHOSPH10_uc010feb.1_Missense_Mutation_p.D168N NM_005791 NP_005782 O00566 MPP10_HUMAN M-phase phosphoprotein 10 168 RNA splicing, via transesterification reactions|rRNA processing chromosome|nucleolus|small nucleolar ribonucleoprotein complex protein binding skin(2)|ovary(1) 3 CGTTTTCAGTGATGAGGATTC 0.443 NA 7 70 0 0 0 0 AFF3 3899 broad.mit.edu 37 2 100625344 100625344 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr2:100625344C>T uc002tag.2 - 4 340 c.104G>A c.(103-105)AGA>AAA p.R35K AFF3_uc002taf.2_Missense_Mutation_p.R60K|AFF3_uc010fiq.1_Missense_Mutation_p.R35K|AFF3_uc010yvr.1_Missense_Mutation_p.R189K|AFF3_uc002tah.1_Missense_Mutation_p.R60K|AFF3_uc010fir.1_Missense_Mutation_p.R112K|AFF3_uc002tai.2_5'Flank NM_002285 NP_002276 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 isoform 1 35 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1) 6 TTCTTGATTTCTTCTTTCTCG 0.393 NA 4 22 0 0 0 0 POTEF 728378 broad.mit.edu 37 2 130877784 130877784 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr2:130877784C>T uc010fmh.2 - 3 705 c.305G>A c.(304-306)TGC>TAC p.C102Y NM_001099771 NP_001093241 A5A3E0 POTEF_HUMAN prostate, ovary, testis expressed protein on 102 cell cortex ATP binding skin(3)|ovary(2) 5 GCAGTGGCAGCACCACTTGCC 0.607 NA 36 258 0 0 0 0 LRP1B 53353 broad.mit.edu 37 2 142004806 142004806 + Missense_Mutation SNP T T C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr2:142004806T>C uc002tvj.1 - 5 1553 c.581A>G c.(580-582)AAG>AGG p.K194R LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 194 Extracellular (Potential).|EGF-like 2; calcium-binding (Potential). 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) AATTTTAGCCTTGCAAGATCT 0.383 NA TSP Lung(27;0.18) 7 50 0 0 0 0 WDSUB1 151525 broad.mit.edu 37 2 160104982 160104982 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr2:160104982C>T uc002uaj.3 - 10 1323 c.1174G>A c.(1174-1176)GAG>AAG p.E392K WDSUB1_uc002uak.3_Missense_Mutation_p.E392K|WDSUB1_uc002ual.3_Missense_Mutation_p.E392K|WDSUB1_uc002uam.3_Intron|WDSUB1_uc010foo.2_Missense_Mutation_p.E300K NM_152528 NP_689741 Q8N9V3 WSDU1_HUMAN WD repeat, sterile alpha motif and U-box domain 392 SAM. ubiquitin ligase complex ubiquitin-protein ligase activity 0 GTCCTGAGCTCTTCAATTTTC 0.388 NA 7 53 0 0 0 0 KCNH7 90134 broad.mit.edu 37 2 163253401 163253401 + Missense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr2:163253401G>C uc002uch.1 - 11 2674 c.2462C>G c.(2461-2463)TCT>TGT p.S821C NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H, 821 Cytoplasmic (Potential).|cNMP. regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity ovary(3)|skin(2) 5 Ibutilide(DB00308) ATCTGCATTAGACTTTCCAGG 0.373 NA 15 31 0 0 0 0 SCN3A 6328 broad.mit.edu 37 2 165986604 165986604 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr2:165986604C>T uc002ucx.2 - 17 3260 c.2768G>A c.(2767-2769)CGG>CAG p.R923Q SCN3A_uc002ucy.2_Missense_Mutation_p.R874Q|SCN3A_uc002ucz.2_Missense_Mutation_p.R874Q|SCN3A_uc002uda.1_Missense_Mutation_p.R743Q|SCN3A_uc002udb.1_Missense_Mutation_p.R743Q NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 923 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) CATGTGCCACCGTGGGAGCGT 0.512 NA 49 179 0 0 0 0 HOXD8 3234 broad.mit.edu 37 2 176996323 176996323 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr2:176996323G>A uc002uko.2 + 2 1474 c.856G>A c.(856-858)GAA>AAA p.E286K uc002ukm.1_5'Flank|HOXD8_uc002ukn.2_Missense_Mutation_p.E102K|HOXD8_uc002ukp.2_Missense_Mutation_p.E285K NM_019558 NP_062458 P13378 HXD8_HUMAN homeobox D8 286 anterior/posterior axis specification, embryo nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195) Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556) AGACAGAGCCGAAGGCCTGAC 0.423 NA 12 29 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179403892 179403892 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr2:179403892C>T uc010zfg.1 - 302 91290 c.91066G>A c.(91066-91068)GAT>AAT p.D30356N uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D24051N|TTN_uc010zfi.1_Missense_Mutation_p.D23984N|TTN_uc010zfj.1_Missense_Mutation_p.D23859N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 31283 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) GAACCACCATCATCTTTGGGC 0.468 NA 16 60 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179554565 179554565 + Missense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr2:179554565C>G uc010zfg.1 - 119 28313 c.28089G>C c.(28087-28089)AAG>AAC p.K9363N TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K6024N|TTN_uc010fre.1_Missense_Mutation_p.K474N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 10290 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) CTTCCTTTTTCTTTGCAACAG 0.378 NA 10 188 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179612368 179612368 + Missense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr2:179612368G>C uc002unb.2 - 46 14983 c.14759C>G c.(14758-14760)ACT>AGT p.T4920S TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 1043 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) GGTGTCTTTAGTTTCAGGAAC 0.428 NA 7 55 0 0 0 0 PLCL1 5334 broad.mit.edu 37 2 198950579 198950579 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr2:198950579G>A uc010fsp.2 + 2 2629 c.2338G>A c.(2338-2340)GAA>AAA p.E780K PLCL1_uc002uuv.3_Missense_Mutation_p.E701K NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 780 C2. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) TATTTTTGATGAAACTTTTGA 0.388 NA 18 75 0 0 0 0 BMPR2 659 broad.mit.edu 37 2 203397344 203397344 + Missense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr2:203397344G>C uc002uzf.3 + 9 2313 c.1165G>C c.(1165-1167)GAA>CAA p.E389Q BMPR2_uc010ftr.2_Missense_Mutation_p.E389Q NM_001204 NP_001195 Q13873 BMPR2_HUMAN bone morphogenetic protein receptor type II 389 Protein kinase.|Cytoplasmic (Potential). anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway integral to plasma membrane ATP binding|metal ion binding|transforming growth factor beta receptor activity ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1) 9 AGAAGTGCTAGAAGGAGCTGT 0.333 NA 7 35 0 0 0 0 ANKZF1 55139 broad.mit.edu 37 2 220098917 220098917 + Missense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr2:220098917G>C uc002vkg.2 + 9 1285 c.1111G>C c.(1111-1113)GAG>CAG p.E371Q ANKZF1_uc010zkv.1_Missense_Mutation_p.E315Q|ANKZF1_uc010zkw.1_Missense_Mutation_p.E161Q|ANKZF1_uc002vkh.2_Missense_Mutation_p.E161Q|ANKZF1_uc002vki.2_Missense_Mutation_p.E371Q|ANKZF1_uc002vkj.1_Missense_Mutation_p.E359Q NM_018089 NP_060559 Q9H8Y5 ANKZ1_HUMAN ankyrin repeat and zinc finger domain containing 371 intracellular zinc ion binding ovary(2) 2 Renal(207;0.0474) Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AACAGTAAGAGAGGAGAGAAA 0.458 NA 11 31 0 0 0 0 ANKZF1 55139 broad.mit.edu 37 2 220098992 220098992 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr2:220098992G>A uc002vkg.2 + 9 1360 c.1186G>A c.(1186-1188)GAG>AAG p.E396K ANKZF1_uc010zkv.1_Missense_Mutation_p.E340K|ANKZF1_uc010zkw.1_Missense_Mutation_p.E186K|ANKZF1_uc002vkh.2_Missense_Mutation_p.E186K|ANKZF1_uc002vki.2_Missense_Mutation_p.E396K|ANKZF1_uc002vkj.1_Missense_Mutation_p.E384K NM_018089 NP_060559 Q9H8Y5 ANKZ1_HUMAN ankyrin repeat and zinc finger domain containing 396 intracellular zinc ion binding ovary(2) 2 Renal(207;0.0474) Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGGGCAGAATGAGGAATCTCC 0.438 NA 24 67 0 0 0 0 CHPF 79586 broad.mit.edu 37 2 220408002 220408002 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr2:220408002G>A uc002vmc.3 - 1 486 c.259C>T c.(259-261)CGC>TGC p.R87C CHPF_uc010zlh.1_5'Flank|CHPF_uc002vmd.3_Missense_Mutation_p.R87C|TMEM198_uc002vme.2_5'Flank|TMEM198_uc002vmf.2_5'Flank NM_024536 NP_078812 Q8IZ52 CHSS2_HUMAN chondroitin polymerizing factor 87 Lumenal (Potential). Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding 0 Renal(207;0.0183) Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) GGCAAGACGCGCGGCTCCCAA 0.746 NA 5 25 0 0 0 0 CHPF 79586 broad.mit.edu 37 2 220408070 220408070 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr2:220408070G>A uc002vmc.3 - 1 418 c.191C>T c.(190-192)TCG>TTG p.S64L CHPF_uc010zlh.1_5'Flank|CHPF_uc002vmd.3_Missense_Mutation_p.S64L|TMEM198_uc002vme.2_5'Flank|TMEM198_uc002vmf.2_5'Flank NM_024536 NP_078812 Q8IZ52 CHSS2_HUMAN chondroitin polymerizing factor 64 Lumenal (Potential). Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding 0 Renal(207;0.0183) Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) GGGCTGCACCGAGTTGGGCCG 0.756 NA 7 19 0 0 0 0 EPHA4 2043 broad.mit.edu 37 2 222428965 222428965 + Silent SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr2:222428965G>A uc002vmq.2 - 3 351 c.309C>T c.(307-309)TTC>TTT p.F103F EPHA4_uc002vmr.2_Silent_p.F103F|EPHA4_uc010zlm.1_Silent_p.F44F|EPHA4_uc010zln.1_Silent_p.F103F NM_004438 NP_004429 P54764 EPHA4_HUMAN ephrin receptor EphA4 precursor 103 Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1) 12 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) CCCTCAAGGTGAATTTAATCT 0.473 NA 19 87 0 0 0 0 GPR55 9290 broad.mit.edu 37 2 231774833 231774833 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr2:231774833C>T uc002vrg.2 - 2 1038 c.845G>A c.(844-846)TGC>TAC p.C282Y GPR55_uc002vrf.2_RNA|GPR55_uc010fxs.1_Missense_Mutation_p.C282Y NM_005683 NP_005674 Q9Y2T6 GPR55_HUMAN G protein-coupled receptor 55 282 Helical; Name=7; (Potential). activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction integral to plasma membrane cannabinoid receptor activity ovary(1) 1 Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204) Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145) AACATCCAGGCAGCAGTTGAC 0.512 NA 24 80 0 0 0 0 B3GNT7 93010 broad.mit.edu 37 2 232262649 232262649 + Silent SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr2:232262649C>T uc002vrs.2 + 2 399 c.219C>T c.(217-219)CCC>CCT p.P73P NM_145236 NP_660279 Q8NFL0 B3GN7_HUMAN UDP-GlcNAc:betaGal 73 Lumenal (Potential). protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity 0 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232) Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139) CGCCCACGCCCATGGCCTCTC 0.617 NA 15 54 0 0 0 0 DIS3L2 129563 broad.mit.edu 37 2 233164768 233164768 + Missense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr2:233164768C>G uc010fxz.2 + 14 1954 c.1678C>G c.(1678-1680)CTG>GTG p.L560V DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA NM_152383 NP_689596 Q8IYB7 DI3L2_HUMAN DIS3 mitotic control homolog (S. 560 exonuclease activity|ribonuclease activity|RNA binding ovary(1)|breast(1)|central_nervous_system(1) 3 all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136) Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149) TGCTTTCACTCTGGACCACGA 0.423 NA 9 37 0 0 0 0 HES6 55502 broad.mit.edu 37 2 239148343 239148343 + Missense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr2:239148343C>G uc002vxz.2 - 2 262 c.127G>C c.(127-129)GAG>CAG p.E43Q HES6_uc002vya.2_Missense_Mutation_p.E43Q|HES6_uc002vyb.2_Missense_Mutation_p.E43Q NM_018645 NP_061115 Q96HZ4 HES6_HUMAN hairy and enhancer of split 6 isoform a 43 Helix-loop-helix motif. cell differentiation transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity skin(1) 1 Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.23e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.29e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;5.98e-05)|Lung(119;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.0148) TGCAGGCTCTCGTTGATCCGC 0.512 NA 2 9 0 0 0 0 FLRT3 23767 broad.mit.edu 37 20 14307152 14307152 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr20:14307152C>T uc002wov.1 - 3 1468 c.1001G>A c.(1000-1002)TGC>TAC p.C334Y MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Missense_Mutation_p.C334Y NM_198391 NP_938205 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 334 Extracellular (Potential).|LRRCT. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity kidney(1) 1 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) TGGGGCTTGGCACATGAGCCC 0.473 NA 22 87 0 0 0 0 DNMT3B 1789 broad.mit.edu 37 20 31385005 31385005 + Missense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr20:31385005G>C uc002wyc.2 + 14 1711 c.1390G>C c.(1390-1392)GAG>CAG p.E464Q DNMT3B_uc010ztx.1_RNA|DNMT3B_uc010zty.1_RNA|DNMT3B_uc002wyd.2_Missense_Mutation_p.E444Q|DNMT3B_uc002wye.2_Missense_Mutation_p.E444Q|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Missense_Mutation_p.E402Q|DNMT3B_uc010zua.1_Missense_Mutation_p.E368Q|DNMT3B_uc002wyf.2_Missense_Mutation_p.E456Q|DNMT3B_uc002wyg.2_Missense_Mutation_p.E163Q NM_006892 NP_008823 Q9UBC3 DNM3B_HUMAN DNA cytosine-5 methyltransferase 3 beta isoform 464 GATA-type; atypical.|ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity). negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity lung(3)|ovary(2) 5 TCGCTTCCTTGAGCTGTTTTA 0.572 NA 23 119 0 0 0 0 RBL1 5933 broad.mit.edu 37 20 35696531 35696531 + Missense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr20:35696531C>G uc002xgi.2 - 3 428 c.349G>C c.(349-351)GAA>CAA p.E117Q RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Missense_Mutation_p.E117Q|RBL1_uc010gfv.1_RNA NM_002895 NP_002886 P28749 RBL1_HUMAN retinoblastoma-like protein 1 isoform a 117 cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent transcription factor binding lung(5)|skin(3)|ovary(2) 10 Myeloproliferative disorder(115;0.00878) TCACGAAATTCTTGTGGTAGA 0.279 NA 7 16 0 0 0 0 CHD6 84181 broad.mit.edu 37 20 40045305 40045305 + Nonsense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr20:40045305G>A uc002xka.1 - 33 6587 c.6409C>T c.(6409-6411)CGA>TGA p.R2137* CHD6_uc002xjz.1_5'Flank NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 2137 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) AGGCTGGTTCGAGAACCAGCA 0.587 NA 5 88 0 0 0 0 SLC2A10 81031 broad.mit.edu 37 20 45354422 45354422 + Silent SNP C C T rs41283042 TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr20:45354422C>T uc002xsl.2 + 2 844 c.747C>T c.(745-747)AAC>AAT p.N249N NM_030777 NP_110404 O95528 GTR10_HUMAN solute carrier family 2 member 10 249 Helical; Name=7; (Potential). endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity ovary(1) 1 Myeloproliferative disorder(115;0.0122) GGCAGCCCAACGTGCTGTGCT 0.617 NA 38 112 0 0 0 0 LAMA5 3911 broad.mit.edu 37 20 60897442 60897442 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr20:60897442C>T uc002ycq.2 - 47 6296 c.6229G>A c.(6229-6231)GAG>AAG p.E2077K NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 2077 Laminin EGF-like 21. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCGGAGCCCTCGGCGGCCGGT 0.706 NA 4 14 0 0 0 0 PPDPF 79144 broad.mit.edu 37 20 62153084 62153084 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr20:62153084C>T uc002yff.2 + 4 337 c.197C>T c.(196-198)CCG>CTG p.P66L NM_024299 NP_077275 Q9H3Y8 PPDPF_HUMAN pancreatic progenitor cell differentiation and 66 cell differentiation|multicellular organismal development 0 TCCACCCTCCCGTTCATGGCC 0.642 NA 15 42 0 0 0 0 ZNF512B 57473 broad.mit.edu 37 20 62597952 62597952 + Silent SNP G G A rs143583869 byFrequency TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr20:62597952G>A uc002yhl.1 - 5 630 c.576C>T c.(574-576)ATC>ATT p.I192I NM_020713 NP_065764 Q96KM6 Z512B_HUMAN zinc finger protein 512B 192 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 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) TGCTCACTCCGATGGGCTTGC 0.612 NA 43 105 0 0 0 0 KRTAP19-1 337882 broad.mit.edu 37 21 31852536 31852536 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr21:31852536C>T uc011acx.1 - 1 101 c.101G>A c.(100-102)AGA>AAA p.R34K NM_181607 NP_853638 Q8IUB9 KR191_HUMAN keratin associated protein 19-1 34 26 X 2 AA repeats of G-[YCGS]. intermediate filament 0 AGAACCCCGTCTGCAGAAGCT 0.587 NA 71 211 0 0 0 0 TTC3 7267 broad.mit.edu 37 21 38520891 38520891 + Missense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr21:38520891C>G uc002yvz.2 + 23 2167 c.2062C>G c.(2062-2064)CAC>GAC p.H688D TTC3_uc011aee.1_Missense_Mutation_p.H378D|TTC3_uc002ywa.2_Missense_Mutation_p.H688D|TTC3_uc002ywb.2_Missense_Mutation_p.H688D|TTC3_uc010gnf.2_Missense_Mutation_p.H453D|TTC3_uc002ywc.2_Missense_Mutation_p.H378D|TTC3_uc011aed.1_Missense_Mutation_p.H378D NM_001001894 NP_001001894 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 688 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding skin(3)|ovary(2)|lung(2)|breast(2) 9 Myeloproliferative disorder(46;0.0412) AATAGAATTTCACATGAATTG 0.308 NA 24 86 0 0 0 0 DYRK1A 1859 broad.mit.edu 37 21 38862551 38862551 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr21:38862551G>A uc002ywk.2 + 6 814 c.739G>A c.(739-741)GAC>AAC p.D247N DYRK1A_uc002ywi.2_Missense_Mutation_p.D247N|DYRK1A_uc002ywj.2_Missense_Mutation_p.D238N|DYRK1A_uc002ywl.2_Missense_Mutation_p.D247N|DYRK1A_uc002ywm.2_Missense_Mutation_p.D247N|DYRK1A_uc011aei.1_Missense_Mutation_p.D8N NM_001396 NP_001387 Q13627 DYR1A_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 247 Protein kinase. nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation nuclear speck ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity ovary(2)|lung(1)|breast(1) 4 CAACCTCTATGACTTGCTGAG 0.413 NA 18 66 0 0 0 0 ETS2 2114 broad.mit.edu 37 21 40193623 40193623 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr21:40193623G>A uc002yxg.2 + 9 1385 c.1189G>A c.(1189-1191)GAT>AAT p.D397N ETS2_uc002yxf.2_Missense_Mutation_p.D537N NM_005239 NP_005230 P15036 ETS2_HUMAN v-ets erythroblastosis virus E26 oncogene 397 ETS. positive regulation of transcription, DNA-dependent|skeletal system development nucleus protein binding|sequence-specific DNA binding transcription factor activity ovary(1)|lung(1)|breast(1)|pancreas(1) 4 Prostate(19;6.33e-08)|all_epithelial(19;0.123) CGCCGACCCCGATGAGGTATG 0.507 NA 34 88 0 0 0 0 RIPK4 54101 broad.mit.edu 37 21 43165984 43165984 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr21:43165984C>T uc002yzn.1 - 6 919 c.871G>A c.(871-873)GAT>AAT p.D291N NM_020639 NP_065690 P57078 RIPK4_HUMAN ankyrin repeat domain 3 291 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1) 7 ACTTCGTCATCAGGCTTTTCA 0.522 NA 31 68 0 0 0 0 ITGB2 3689 broad.mit.edu 37 21 46320373 46320373 + Silent SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr21:46320373G>A uc002zgd.2 - 6 803 c.759C>T c.(757-759)CGC>CGT p.R253R ITGB2_uc002zge.2_Silent_p.R253R|ITGB2_uc002zgf.3_Silent_p.R253R|ITGB2_uc011afl.1_Silent_p.R175R|ITGB2_uc010gpw.2_Silent_p.R196R|ITGB2_uc002zgg.2_Silent_p.R253R NM_001127491 NP_001120963 P05107 ITB2_HUMAN integrin, beta 2 precursor 253 Extracellular (Potential).|VWFA. apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity ovary(4)|central_nervous_system(3)|breast(2) 9 Colorectal(79;0.0669) Simvastatin(DB00641) GCGTGACGTTGCGCCAGCCGA 0.652 NA 11 46 0 0 0 0 COL6A2 1292 broad.mit.edu 37 21 47536580 47536580 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr21:47536580G>A uc002zia.1 + 9 1025 c.943G>A c.(943-945)GAC>AAC p.D315N COL6A2_uc002zhy.1_Missense_Mutation_p.D315N|COL6A2_uc002zhz.1_Missense_Mutation_p.D315N|COL6A2_uc002zib.1_Intron NM_001849 NP_001840 P12110 CO6A2_HUMAN alpha 2 type VI collagen isoform 2C2 precursor 315 Triple-helical region. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging central_nervous_system(7)|ovary(1) 8 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) ATTTGGAGCCGACGGTCGCAA 0.617 NA 13 32 0 0 0 0 SERPIND1 3053 broad.mit.edu 37 22 21134215 21134215 + Silent SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr22:21134215G>A uc002ztb.1 + 2 682 c.615G>A c.(613-615)CTG>CTA p.L205L PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Silent_p.L233L NM_000185 NP_000176 P05546 HEP2_HUMAN heparin cofactor II precursor 205 Glycosaminoglycan-binding site. blood coagulation|chemotaxis|regulation of proteolysis extracellular region heparin binding|serine-type endopeptidase inhibitor activity 0 all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-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) Ardeparin(DB00407) TCCGTAAGCTGACTCATCGCC 0.418 NA 17 72 0 0 0 0 HIC2 23119 broad.mit.edu 37 22 21800507 21800507 + Missense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr22:21800507G>C uc002zur.3 + 3 1553 c.1323G>C c.(1321-1323)TTG>TTC p.L441F HIC2_uc002zus.3_Missense_Mutation_p.L441F NM_015094 NP_055909 Q96JB3 HIC2_HUMAN hypermethylated in cancer 2 441 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent focal adhesion|nucleus DNA binding|protein C-terminus binding|zinc ion binding skin(1) 1 Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968) Lung SC(17;0.0262)|all_lung(157;0.205) GGGACAACTTGTATGTGTGCA 0.622 NA 18 102 0 0 0 0 GAS2L1 10634 broad.mit.edu 37 22 29706633 29706633 + Silent SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr22:29706633G>C uc003afa.1 + 4 946 c.747G>C c.(745-747)CTG>CTC p.L249L GAS2L1_uc010gvm.1_Silent_p.L249L|GAS2L1_uc003afb.1_Silent_p.L249L|GAS2L1_uc003afc.1_Silent_p.L249L|GAS2L1_uc003afd.1_Silent_p.L249L|GAS2L1_uc003afe.1_Silent_p.L249L NM_152236 NP_689422 Q99501 GA2L1_HUMAN growth arrest-specific 2 like 1 isoform a 249 GAR. cell cycle arrest cytoplasm|cytoskeleton 0 TGCAGGTGCTGAGGAGCCACG 0.711 NA 4 16 0 0 0 0 MORC2 22880 broad.mit.edu 37 22 31333850 31333850 + Nonsense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr22:31333850G>A uc003aje.1 - 15 2499 c.1135C>T c.(1135-1137)CGA>TGA p.R379* NM_014941 NP_055756 Q9Y6X9 MORC2_HUMAN MORC family CW-type zinc finger 2 441 ATP binding|zinc ion binding ovary(1)|pancreas(1) 2 CCCATTGCTCGGAGCAGGTGC 0.567 NA 12 63 0 0 0 0 LIMK2 3985 broad.mit.edu 37 22 31654293 31654293 + Missense_Mutation SNP G G A rs35923988 TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr22:31654293G>A uc003akh.2 + 3 278 c.133G>A c.(133-135)GAT>AAT p.D45N LIMK2_uc003akg.2_5'UTR|LIMK2_uc003aki.2_Intron|LIMK2_uc003akj.2_Missense_Mutation_p.D24N|LIMK2_uc003akk.2_Missense_Mutation_p.D24N|LIMK2_uc011aln.1_5'UTR NM_005569 NP_005560 P53671 LIMK2_HUMAN LIM domain kinase 2 isoform 2a 45 LIM zinc-binding 1. mitochondrion|nucleus ATP binding|protein serine/threonine kinase activity|zinc ion binding ovary(2) 2 AGAATGCCAGGATTCCCTCAC 0.517 NA 15 64 0 0 0 0 LIMK2 3985 broad.mit.edu 37 22 31654368 31654368 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr22:31654368G>A uc003akh.2 + 3 353 c.208G>A c.(208-210)GAG>AAG p.E70K LIMK2_uc003akg.2_5'UTR|LIMK2_uc003aki.2_Intron|LIMK2_uc003akj.2_Missense_Mutation_p.E49K|LIMK2_uc003akk.2_Missense_Mutation_p.E49K|LIMK2_uc011aln.1_5'UTR NM_005569 NP_005560 P53671 LIMK2_HUMAN LIM domain kinase 2 isoform 2a 70 mitochondrion|nucleus ATP binding|protein serine/threonine kinase activity|zinc ion binding ovary(2) 2 GAAGTTTGGGGAGTTCTGTCA 0.522 NA 17 53 0 0 0 0 CACNG2 10369 broad.mit.edu 37 22 36960607 36960607 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr22:36960607C>T uc003aps.1 - 4 1045 c.763G>A c.(763-765)GTG>ATG p.V255M NM_006078 NP_006069 Q9Y698 CCG2_HUMAN voltage-dependent calcium channel gamma-2 255 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity 0 TTGATGCCCACGGGGGAGGCG 0.687 NA 32 91 0 0 0 0 MLC1 23209 broad.mit.edu 37 22 50500060 50500060 + Silent SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr22:50500060G>A uc003bjg.1 - 12 1359 c.1086C>T c.(1084-1086)TTC>TTT p.F362F MLC1_uc011arl.1_Silent_p.F310F|MLC1_uc003bjh.1_Silent_p.F362F|MLC1_uc011arm.1_Silent_p.F332F|MLC1_uc011arn.1_Silent_p.F283F|MLC1_uc011aro.1_Silent_p.F328F NM_139202 NP_631941 Q15049 MLC1_HUMAN megalencephalic leukoencephalopathy with 362 basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction ion channel activity pancreas(1) 1 all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113) READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216) TCTCCTTGTCGAACTCCTTCA 0.652 NA 12 56 0 0 0 0 MIOX 55586 broad.mit.edu 37 22 50927676 50927676 + Nonsense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr22:50927676C>T uc003bll.1 + 7 652 c.538C>T c.(538-540)CAG>TAG p.Q180* MIOX_uc003blm.1_Nonsense_Mutation_p.Q180*|MIOX_uc003bln.1_Silent_p.I190I NM_017584 NP_060054 Q9UGB7 MIOX_HUMAN myo-inositol oxygenase 180 inositol catabolic process cytoplasm|inclusion body aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity 0 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|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) CGGGATGTATCAGCCCCACTG 0.562 NA 4 17 0 0 0 0 LMCD1 29995 broad.mit.edu 37 3 8607273 8607273 + Silent SNP A A C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr3:8607273A>C uc003bqq.2 + 5 993 c.879A>C c.(877-879)GCA>GCC p.A293A LMCD1_uc011atd.1_Silent_p.A220A|LMCD1_uc011ate.1_Silent_p.A181A NM_014583 NP_055398 Q9NZU5 LMCD1_HUMAN LIM and cysteine-rich domains 1 293 LIM zinc-binding 1. positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent cytoplasm|extracellular space|nucleus transcription corepressor activity|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(96;0.124) AGGATGGTGCACCCTGGTGCG 0.632 NA 8 18 0 0 0 0 RARB 5915 broad.mit.edu 37 3 25634998 25634998 + Missense_Mutation SNP T T G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr3:25634998T>G uc011awl.1 + 6 878 c.812T>G c.(811-813)CTT>CGT p.L271R RARB_uc003cdi.1_Missense_Mutation_p.L152R|RARB_uc003cdh.2_Missense_Mutation_p.L264R NM_016152 NP_057236 P10826 RARB_HUMAN retinoic acid receptor, beta isoform 2 271 Ligand-binding. embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|large_intestine(1)|pancreas(1) 3 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799) TTCCAGATTCTTAGAATTTGC 0.408 NA 14 26 0 0 0 0 CMTM8 152189 broad.mit.edu 37 3 32398904 32398904 + Missense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr3:32398904G>C uc003cex.2 + 2 481 c.187G>C c.(187-189)GAG>CAG p.E63Q CMTM8_uc010hfu.2_Intron NM_178868 NP_849199 Q8IZV2 CKLF8_HUMAN CKLF-like MARVEL transmembrane domain containing 63 MARVEL. chemotaxis extracellular space|integral to membrane cytokine activity 0 TGCTGGAACTGAGTACTTCCG 0.473 NA 3 79 0 0 0 0 CRTAP 10491 broad.mit.edu 37 3 33171442 33171442 + Missense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr3:33171442G>C uc003cfl.3 + 4 925 c.805G>C c.(805-807)GAA>CAA p.E269Q CRTAP_uc010hfz.2_Intron|CRTAP_uc003cfm.2_Missense_Mutation_p.E90Q|CRTAP_uc003cfn.2_Missense_Mutation_p.E90Q NM_006371 NP_006362 O75718 CRTAP_HUMAN cartilage associated protein precursor 269 proteinaceous extracellular matrix binding 0 TCATTATGTAGAAGTTCTGGA 0.373 NA 4 49 0 0 0 0 MLH1 4292 broad.mit.edu 37 3 37048481 37048481 + Splice_Site SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr3:37048481G>C uc003cgl.2 + 5 441 c.381_splice c.e5-1 p.R127_splice MLH1_uc011aye.1_Splice_Site|MLH1_uc011ayb.1_Splice_Site|MLH1_uc010hge.2_Splice_Site_p.R127_splice|MLH1_uc003cgn.3_Splice_Site|MLH1_uc011ayc.1_Splice_Site_p.R29_splice|MLH1_uc011ayd.1_Splice_Site|MLH1_uc003cgo.2_Splice_Site NM_000249 NP_000240 P40692 MLH1_HUMAN MutL protein homolog 1 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 TTTCTCATTAGAGCAAGTTAC 0.368 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 13 21 0 0 0 0 GOLGA4 2803 broad.mit.edu 37 3 37367779 37367779 + Missense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr3:37367779G>C uc003cgv.2 + 14 4706 c.4402G>C c.(4402-4404)GAG>CAG p.E1468Q GOLGA4_uc010hgr.1_Missense_Mutation_p.E1029Q|GOLGA4_uc003cgw.2_Missense_Mutation_p.E1490Q|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Missense_Mutation_p.E1349Q NM_002078 NP_002069 Q13439 GOGA4_HUMAN golgi autoantigen, golgin subfamily a, 4 1468 Potential.|Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding ovary(2)|breast(1)|central_nervous_system(1) 4 GATCCAGCTTGAGTTAAAATC 0.343 NA 4 45 0 0 0 0 TDGF1 6997 broad.mit.edu 37 3 46620773 46620773 + Missense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr3:46620773G>C uc003cpv.2 + 3 420 c.140G>C c.(139-141)AGA>ACA p.R47T LRRC2_uc003cpu.3_Intron NM_003212 NP_003203 P13385 TDGF1_HUMAN teratocarcinoma-derived growth factor 1 47 activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation anchored to membrane|cell surface|extrinsic to plasma membrane growth factor activity 0 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204) CTGGCCTTCAGAGATGACAGC 0.527 NA 7 33 0 0 0 0 MON1A 84315 broad.mit.edu 37 3 49948247 49948247 + Silent SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr3:49948247C>T uc003cxz.2 - 4 1101 c.975G>A c.(973-975)TCG>TCA p.S325S MON1A_uc003cya.2_Silent_p.S163S|MON1A_uc003cyb.2_Silent_p.S163S NM_032355 NP_115731 Q86VX9 MON1A_HUMAN MON1 homolog A isoform a 228 protein binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) GCTCTTGTGCCGACTGCCGCG 0.582 NA 7 19 0 0 0 0 CISH 1154 broad.mit.edu 37 3 50645484 50645484 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr3:50645484G>A uc003dax.2 - 3 512 c.331C>T c.(331-333)CAC>TAC p.H111Y CISH_uc010hlq.2_Missense_Mutation_p.H128Y NM_145071 NP_659508 Q9NSE2 CISH_HUMAN cytokine-inducible SH2-containing protein 111 SH2. intracellular signal transduction|negative regulation of signal transduction|regulation of cell growth intracellular 0 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) TAGCTGGGGTGCGTGCTGTCA 0.567 NA 14 37 0 0 0 0 PHF7 51533 broad.mit.edu 37 3 52454998 52454998 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr3:52454998G>A uc003ddy.2 + 7 1299 c.493G>A c.(493-495)GAA>AAA p.E165K PHF7_uc003ddz.2_Missense_Mutation_p.E165K NM_016483 NP_057567 Q9BWX1 PHF7_HUMAN PHD finger protein 7 isoform 1 165 RING-type; degenerate. nucleus zinc ion binding breast(1) 1 BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275) CTTATGTTGTGAAGACTTATC 0.493 NA 32 80 0 0 0 0 OR5H6 79295 broad.mit.edu 37 3 97983934 97983934 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr3:97983934G>A uc003dsi.1 + 1 806 c.806G>A c.(805-807)GGC>GAC p.G269D NM_001005479 NP_001005479 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, 269 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|large_intestine(1) 3 TTATACTATGGCCCCCTCACC 0.398 NA 13 49 0 0 0 0 ZBTB11 27107 broad.mit.edu 37 3 101373663 101373663 + Nonsense_Mutation SNP C C A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr3:101373663C>A uc003dve.3 - 8 2424 c.2194G>T c.(2194-2196)GAG>TAG p.E732* NM_014415 NP_055230 O95625 ZBT11_HUMAN zinc finger protein ZNF-U69274 732 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 TACTTGGACTCTCCTATTAGA 0.343 NA 5 54 0.000602214 0.000775454 1 0 ATP1B3 483 broad.mit.edu 37 3 141622545 141622545 + Missense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr3:141622545C>G uc003eug.1 + 2 367 c.193C>G c.(193-195)CTC>GTC p.L65V ATP1B3_uc011bne.1_RNA|ATP1B3_uc003euh.1_Missense_Mutation_p.L51V NM_001679 NP_001670 P54709 AT1B3_HUMAN Na+/K+ -ATPase beta 3 subunit 65 Extracellular (Potential). ATP biosynthetic process|blood coagulation|leukocyte migration melanosome|sodium:potassium-exchanging ATPase complex protein binding|sodium:potassium-exchanging ATPase activity 0 GCTTCAGACTCTCAACGATGA 0.343 NA 12 110 0 0 0 0 HPS3 84343 broad.mit.edu 37 3 148858878 148858878 + Nonsense_Mutation SNP G G T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr3:148858878G>T uc003ewu.1 + 3 927 c.787G>T c.(787-789)GAA>TAA p.E263* HPS3_uc003ewt.1_Nonsense_Mutation_p.E263*|HPS3_uc011bnq.1_Nonsense_Mutation_p.E98* NM_032383 NP_115759 Q969F9 HPS3_HUMAN Hermansky-Pudlak syndrome 3 protein 263 cytoplasm ovary(5)|large_intestine(1) 6 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) ACTTCTTGGTGAAAAAAGTGA 0.383 NA Hermansky-Pudlak_syndrome 13 73 2.27e-07 3.03e-07 1 0 IGSF10 285313 broad.mit.edu 37 3 151154852 151154852 + Silent SNP A A G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr3:151154852A>G uc011bod.1 - 6 7497 c.7497T>C c.(7495-7497)TAT>TAC p.Y2499Y IGSF10_uc011bob.1_Silent_p.Y526Y|IGSF10_uc011boc.1_Silent_p.Y478Y NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 2499 Ig-like C2-type 11. cell differentiation|multicellular organismal development|ossification extracellular region skin(7)|ovary(5)|central_nervous_system(1) 13 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TTCCTCTGTCATAAGCTGTTG 0.393 NA 8 167 0 0 0 0 LEKR1 389170 broad.mit.edu 37 3 156763471 156763471 + Missense_Mutation SNP G G T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr3:156763471G>T uc003fba.1 + 14 2434 c.1099G>T c.(1099-1101)GCA>TCA p.A367S NM_001004316 NP_001004316 Q6ZMV7 LEKR1_HUMAN leucine, glutamate and lysine rich 1 Error:Variant_position_missing_in_D3DNK7_after_alignment 0 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) CAGGGGTGGAGCATCTTCAGC 0.547 NA 19 110 5.26e-13 7.17e-13 1 0 VEPH1 79674 broad.mit.edu 37 3 157146231 157146231 + Silent SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr3:157146231C>T uc003fbj.1 - 5 893 c.576G>A c.(574-576)CAG>CAA p.Q192Q VEPH1_uc003fbk.1_Silent_p.Q192Q|VEPH1_uc010hvu.1_Silent_p.Q192Q NM_024621 NP_078897 Q14D04 MELT_HUMAN ventricular zone expressed PH domain homolog 1 192 plasma membrane breast(3)|ovary(1)|lung(1) 5 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) TTGGCTGAGGCTGCTTTTCAT 0.458 NA 19 59 0 0 0 0 SLITRK3 22865 broad.mit.edu 37 3 164908029 164908029 + Missense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr3:164908029G>C uc003fej.3 - 2 1034 c.590C>G c.(589-591)TCT>TGT p.S197C SLITRK3_uc003fek.2_Missense_Mutation_p.S197C NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 197 Extracellular (Potential).|LRR 6. integral to membrane ovary(6)|skin(3)|pancreas(1) 10 ATGGGTTAAAGAGACAGCCTT 0.413 NA HNSCC(40;0.11) 13 68 0 0 0 0 EIF2B5 8893 broad.mit.edu 37 3 183861986 183861986 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr3:183861986G>A uc003fmp.2 + 14 2333 c.1969G>A c.(1969-1971)GAA>AAA p.E657K EIF2B5_uc003fmq.2_Missense_Mutation_p.E378K|EIF2B5_uc003fmr.2_Missense_Mutation_p.E65K NM_003907 NP_003898 Q13144 EI2BE_HUMAN eukaryotic translation initiation factor 2B, 657 W2. astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process cytosol|eukaryotic translation initiation factor 2B complex|nucleus guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding ovary(5) 5 all_cancers(143;7.59e-11)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) CCTAGAGCATGAAGCTCTTGG 0.502 NA 30 171 0 0 0 0 FAM131A 131408 broad.mit.edu 37 3 184060556 184060556 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr3:184060556C>T uc003fog.2 + 2 1804 c.440C>T c.(439-441)GCG>GTG p.A147V FAM131A_uc003fob.1_Missense_Mutation_p.A55V|FAM131A_uc003foc.2_Missense_Mutation_p.A93V|FAM131A_uc003foe.2_Missense_Mutation_p.A93V NM_144635 NP_653236 Q6UXB0 F131A_HUMAN hypothetical protein LOC131408 precursor 147 extracellular region breast(1) 1 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TTTGCCATCGCGGAAGCCAAG 0.557 NA 12 40 0 0 0 0 LPP 4026 broad.mit.edu 37 3 188327198 188327198 + Missense_Mutation SNP T T G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr3:188327198T>G uc003frs.1 + 6 925 c.679T>G c.(679-681)TCA>GCA p.S227A LPP_uc011bsg.1_Intron|LPP_uc011bsi.1_Missense_Mutation_p.S227A|LPP_uc003frt.2_Missense_Mutation_p.S227A|LPP_uc011bsj.1_Missense_Mutation_p.S64A NM_005578 NP_005569 Q93052 LPP_HUMAN LIM domain containing preferred translocation 227 Pro-rich. cell adhesion cytoplasm|focal adhesion|nucleus protein binding|zinc ion binding HMGA2/LPP(161) soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1) 165 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) GCAGGTGAAGTCAGCCCAGCC 0.562 NA T HMGA2|MLL|C12orf9 lipoma|leukemia 11 92 0 0 0 0 CPN2 1370 broad.mit.edu 37 3 194063020 194063020 + Missense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr3:194063020C>G uc003fts.2 - 2 502 c.412G>C c.(412-414)GAG>CAG p.E138Q NM_001080513 NP_001073982 P22792 CPN2_HUMAN carboxypeptidase N, polypeptide 2 138 LRR 2. protein stabilization extracellular region enzyme regulator activity ovary(5) 5 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) AAAAGACCCTCGGGCAGAGCC 0.607 NA 5 89 0 0 0 0 SLIT2 9353 broad.mit.edu 37 4 20530585 20530585 + Silent SNP T T C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr4:20530585T>C uc003gpr.1 + 16 1680 c.1476T>C c.(1474-1476)TAT>TAC p.Y492Y SLIT2_uc003gps.1_Silent_p.Y484Y NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 492 apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 CAGAAGATTATCGATCAAAAT 0.353 NA 13 51 0 0 0 0 SEL1L3 23231 broad.mit.edu 37 4 25792177 25792177 + Missense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr4:25792177C>G uc003gru.3 - 12 2128 c.1976G>C c.(1975-1977)AGA>ACA p.R659T SEL1L3_uc003grv.2_Missense_Mutation_p.R66T NM_015187 NP_056002 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 659 integral to membrane binding 0 ATCTTTTAGTCTAATTGTTTC 0.249 NA 13 41 0 0 0 0 LRRC66 339977 broad.mit.edu 37 4 52861239 52861239 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr4:52861239G>A uc003gzi.2 - 4 1962 c.1949C>T c.(1948-1950)TCA>TTA p.S650L NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 650 integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 GTAGTGGGCTGAAAGCGCTTC 0.532 NA 16 40 0 0 0 0 CLOCK 9575 broad.mit.edu 37 4 56301653 56301653 + Nonsense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr4:56301653G>A uc003haz.1 - 24 3396 c.2470C>T c.(2470-2472)CAG>TAG p.Q824* CLOCK_uc003hba.1_Nonsense_Mutation_p.Q824*|CLOCK_uc010igu.1_RNA NM_004898 NP_004889 O15516 CLOCK_HUMAN clock 824 Poly-Gln. circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter cytoplasm|transcription factor complex DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(2)|ovary(1) 3 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) TGCTGTTGCTGAGACTGATGT 0.527 NA 25 56 0 0 0 0 TECRL 253017 broad.mit.edu 37 4 65274945 65274945 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr4:65274945G>A uc003hcv.2 - 1 234 c.125C>T c.(124-126)TCA>TTA p.S42L TECRL_uc003hcw.2_Missense_Mutation_p.S42L NM_001010874 NP_001010874 Q5HYJ1 TECRL_HUMAN steroid 5 alpha-reductase 2-like 2 42 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors 0 AGGGCCCGCTGAGAGTACAAG 0.393 NA 8 28 0 0 0 0 FAM190A 401145 broad.mit.edu 37 4 91230678 91230678 + Missense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr4:91230678G>C uc003hsv.3 + 2 1583 c.1243G>C c.(1243-1245)GAT>CAT p.D415H FAM190A_uc003hsu.3_Missense_Mutation_p.D415H|FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Missense_Mutation_p.D415H NM_001145065 NP_001138537 Q9C0I3 F190A_HUMAN KIAA1680 protein isoform 1 415 large_intestine(1)|ovary(1) 2 TCCTATTTCAGATTCAAAGAT 0.363 NA 22 34 0 0 0 0 SMARCAD1 56916 broad.mit.edu 37 4 95155231 95155231 + Missense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr4:95155231G>C uc003htc.3 + 4 750 c.495G>C c.(493-495)TTG>TTC p.L165F SMARCAD1_uc003htb.3_Missense_Mutation_p.L165F|SMARCAD1_uc003htd.3_Missense_Mutation_p.L165F|SMARCAD1_uc010ila.2_Missense_Mutation_p.L28F NM_020159 NP_064544 Q9H4L7 SMRCD_HUMAN SWI/SNF-related, matrix-associated 165 CUE 1. chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination nuclear matrix ATP binding|DNA binding|helicase activity skin(2)|ovary(1)|breast(1) 4 OV - Ovarian serous cystadenocarcinoma(123;4.33e-08) ttcagactttgaaggaacttt 0.134 NA 8 18 0 0 0 0 ANK2 287 broad.mit.edu 37 4 114195732 114195732 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr4:114195732C>T uc003ibe.3 + 15 1710 c.1610C>T c.(1609-1611)TCT>TTT p.S537F ANK2_uc003ibd.3_Missense_Mutation_p.S516F|ANK2_uc003ibf.3_Missense_Mutation_p.S537F|ANK2_uc003ibc.2_Missense_Mutation_p.S513F|ANK2_uc011cgb.1_Missense_Mutation_p.S552F NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 537 ANK 16. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CTGCACATCTCTGCCCGGGAG 0.532 NA 22 36 0 0 0 0 ANKRD50 57182 broad.mit.edu 37 4 125590572 125590572 + Missense_Mutation SNP T T C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr4:125590572T>C uc003ifg.3 - 3 4126 c.3860A>G c.(3859-3861)AAA>AGA p.K1287R ANKRD50_uc011cgo.1_Missense_Mutation_p.K1108R|ANKRD50_uc010inw.2_Missense_Mutation_p.K1287R NM_020337 NP_065070 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 1287 Ser-rich. central_nervous_system(1) 1 ATTACTTTGTTTCGCTTTTTT 0.418 NA 4 126 0 0 0 0 WDR17 116966 broad.mit.edu 37 4 177041161 177041161 + Missense_Mutation SNP G G T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr4:177041161G>T uc003iuj.2 + 5 679 c.523G>T c.(523-525)GAT>TAT p.D175Y WDR17_uc003iuk.2_Missense_Mutation_p.D151Y|WDR17_uc003ium.3_Missense_Mutation_p.D151Y|WDR17_uc003iul.1_Intron NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN WD repeat domain 17 isoform 1 175 WD 3. ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) CTTCTTGTCTGATATCTGTAT 0.408 NA 32 87 1.89e-17 2.6e-17 1 0 PLEKHG4B 153478 broad.mit.edu 37 5 171516 171516 + Missense_Mutation SNP A A G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr5:171516A>G uc003jak.2 + 14 2989 c.2939A>G c.(2938-2940)CAC>CGC p.H980R NM_052909 NP_443141 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G 980 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(2) 2 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) CAGCTGCGTCACGGCAATGAC 0.667 NA 4 30 0 0 0 0 ZDHHC11 79844 broad.mit.edu 37 5 801245 801245 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr5:801245C>T uc011cma.1 - 12 1600 c.1216G>A c.(1216-1218)GAC>AAC p.D406N ZDHHC11_uc010itc.2_RNA|ZDHHC11_uc003jbj.2_RNA NM_024786 NP_079062 Q9H8X9 ZDH11_HUMAN zinc finger, DHHC-type containing 11 406 integral to membrane acyltransferase activity|zinc ion binding skin(1)|pancreas(1) 2 Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) TCAGCACTGTCAGTTTTCATG 0.398 NA 11 104 0 0 0 0 NSUN2 54888 broad.mit.edu 37 5 6605463 6605463 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr5:6605463C>T uc003jdu.2 - 15 1725 c.1660G>A c.(1660-1662)GAA>AAA p.E554K NSUN2_uc003jds.2_5'Flank|NSUN2_uc003jdt.2_Missense_Mutation_p.E318K|NSUN2_uc011cmk.1_Missense_Mutation_p.E519K|NSUN2_uc003jdv.2_Missense_Mutation_p.E318K NM_017755 NP_060225 Q08J23 NSUN2_HUMAN NOL1/NOP2/Sun domain family, member 2 554 cytoplasm|nucleolus tRNA (cytosine-5-)-methyltransferase activity|tRNA binding ovary(1) 1 TTCTTCCCTTCTGTAGTCCGA 0.423 NA 22 155 0 0 0 0 DNAH5 1767 broad.mit.edu 37 5 13871062 13871062 + Silent SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr5:13871062G>A uc003jfd.2 - 24 3690 c.3648C>T c.(3646-3648)GTC>GTT p.V1216V NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1216 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) GGCGTCCAATGACAACCATCC 0.388 NA Kartagener_syndrome 14 68 0 0 0 0 TRIO 7204 broad.mit.edu 37 5 14291310 14291310 + Silent SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr5:14291310G>A uc003jff.2 + 5 1032 c.1026G>A c.(1024-1026)CTG>CTA p.L342L TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Silent_p.L293L|TRIO_uc003jfh.1_5'Flank NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 342 Spectrin 1. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) GCTTCCAGCTGAGGCTGTTTG 0.587 NA 18 56 0 0 0 0 C1QTNF3 114899 broad.mit.edu 37 5 34033476 34033476 + Missense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr5:34033476C>G uc003jin.2 - 3 371 c.284G>C c.(283-285)CGA>CCA p.R95P C1QTNF3_uc003jio.2_Missense_Mutation_p.R168P NM_030945 NP_112207 Q9BXJ4 C1QT3_HUMAN C1q and tumor necrosis factor related protein 3 95 Collagen-like. collagen 0 all_lung(31;0.0207) CCGCTCCCCTCGAGGCCCCAG 0.562 NA 21 64 0 0 0 0 PIK3R1 5295 broad.mit.edu 37 5 67576368 67576368 + Missense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr5:67576368C>G uc003jva.2 + 6 1207 c.647C>G c.(646-648)TCC>TGC p.S216C PIK3R1_uc003jvb.2_Missense_Mutation_p.S216C NM_181523 NP_852664 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 216 Rho-GAP. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.?(1) endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1) 101 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) GTACAAAGCTCCGAAGAATAT 0.343 NA Mis|F|O gliobastoma|ovarian|colorectal TCGA GBM(4;<1E-08) 26 130 0 0 0 0 PTCD2 79810 broad.mit.edu 37 5 71654230 71654230 + Silent SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr5:71654230C>G uc003kcb.2 + 10 1153 c.1143C>G c.(1141-1143)CTC>CTG p.L381L PTCD2_uc011csf.1_Silent_p.L191L|PTCD2_uc003kcc.2_Silent_p.L229L|PTCD2_uc011csg.1_Silent_p.L209L|PTCD2_uc011csh.1_Silent_p.L272L|PTCD2_uc003kcd.2_RNA NM_024754 NP_079030 Q8WV60 PTCD2_HUMAN pentatricopeptide repeat domain 2 381 0 Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.73e-53) TCCAGCCACTCAGCCAGTCCC 0.517 NA 5 15 0 0 0 0 THBS4 7060 broad.mit.edu 37 5 79355723 79355723 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr5:79355723G>A uc003kgh.2 + 8 1305 c.982G>A c.(982-984)GAT>AAT p.D328N NM_003248 NP_003239 P35443 TSP4_HUMAN thrombospondin 4 precursor 328 EGF-like 2; calcium-binding (Potential). endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity 0 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) TATTGATGTTGATGAGGTAAA 0.507 NA 41 102 0 0 0 0 ERAP1 51752 broad.mit.edu 37 5 96130758 96130758 + Silent SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr5:96130758G>A uc003kmm.2 - 5 1253 c.906C>T c.(904-906)CCC>CCT p.P302P ERAP1_uc003kml.2_Silent_p.P302P|ERAP1_uc010jbm.1_Silent_p.P114P|ERAP1_uc003kmn.2_Silent_p.P302P NM_001040458 NP_001035548 Q9NZ08 ERAP1_HUMAN type 1 tumor necrosis factor receptor shedding 302 Lumenal (Potential). angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding ovary(1)|pancreas(1) 2 all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244) all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071) GTTTGGGTAGGGGATACGGTA 0.388 NA 4 21 0 0 0 0 P4HA2 8974 broad.mit.edu 37 5 131530707 131530707 + Silent SNP A A C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr5:131530707A>C uc003kwh.2 - 14 2013 c.1449T>G c.(1447-1449)GCT>GCG p.A483A P4HA2_uc003kwg.2_Silent_p.A481A|P4HA2_uc003kwi.2_Silent_p.A481A|P4HA2_uc003kwk.2_Silent_p.A481A|P4HA2_uc003kwl.2_Silent_p.A483A|P4HA2_uc003kwj.2_Silent_p.A481A NM_004199 NP_004190 O15460 P4HA2_HUMAN prolyl 4-hydroxylase, alpha II subunit isoform 1 483 Fe2OG dioxygenase. endoplasmic reticulum lumen electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding 0 all_cancers(142;0.103)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Proline(DB00172)|Succinic acid(DB00139) ACCAGAACACAGCTGTACCCT 0.542 NA 19 52 0 0 0 0 FAM53C 51307 broad.mit.edu 37 5 137680625 137680625 + Missense_Mutation SNP G G A rs146380618 byFrequency TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr5:137680625G>A uc003lcv.2 + 4 718 c.248G>A c.(247-249)CGG>CAG p.R83Q FAM53C_uc003lcw.2_Missense_Mutation_p.R83Q|FAM53C_uc011cyq.1_Intron|FAM53C_uc011cyr.1_Intron NM_001135647 NP_001129119 Q9NYF3 FA53C_HUMAN hypothetical protein LOC51307 83 ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) CCACCCAGTCGGGGAAACTCC 0.622 NA 24 90 0 0 0 0 PCDHA6 56142 broad.mit.edu 37 5 140209601 140209601 + Missense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr5:140209601C>G uc003lho.2 + 1 1952 c.1925C>G c.(1924-1926)TCT>TGT p.S642C PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Missense_Mutation_p.S642C NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 642 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAAGCGGACTCTCCGCGCCAC 0.672 NA 25 60 0 0 0 0 PCDHB9 56127 broad.mit.edu 37 5 140568326 140568326 + Missense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr5:140568326G>C uc003liw.1 + 3 1435 c.1435G>C c.(1435-1437)GAC>CAC p.D479H NM_019119 NP_061992 Q9Y5E1 PCDB9_HUMAN protocadherin beta 9 precursor 479 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CACAGACAGAGACTCAGGCAC 0.652 NA 33 236 0 0 0 0 PCDHB9 56127 broad.mit.edu 37 5 140568883 140568883 + Silent SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr5:140568883C>T uc003liw.1 + 3 1992 c.1992C>T c.(1990-1992)GAC>GAT p.D664D NM_019119 NP_061992 Q9Y5E1 PCDB9_HUMAN protocadherin beta 9 precursor 664 Extracellular (Potential).|Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCCTGGTGGACGGCTTCTCCC 0.701 NA 6 117 0 0 0 0 GFOD1 54438 broad.mit.edu 37 6 13487002 13487002 + Nonsense_Mutation SNP C C A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr6:13487002C>A uc003nat.1 - 1 786 c.121G>T c.(121-123)GAG>TAG p.E41* GFOD1_uc003nas.1_5'Flank|C6orf114_uc003nav.2_5'Flank NM_018988 NP_061861 Q9NXC2 GFOD1_HUMAN glucose-fructose oxidoreductase domain 41 extracellular region binding|oxidoreductase activity ovary(2) 2 Breast(50;0.0296)|Ovarian(93;0.0454) all_hematologic(90;0.135) Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108) TTGGCCAGCTCCTCCGCTTCT 0.627 NA 25 82 7.38e-10 9.95e-10 1 0 HIST1H4C 8364 broad.mit.edu 37 6 26104378 26104378 + Missense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr6:26104378G>C uc003ngi.2 + 1 203 c.203G>C c.(202-204)CGA>CCA p.R68P NM_003542 NP_003533 P62805 H4_HUMAN histone cluster 1, H4c 68 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding 0 AACGTTATTCGAGACGCCGTC 0.527 NA 10 46 0 0 0 0 ZBTB12 221527 broad.mit.edu 37 6 31867996 31867996 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr6:31867996G>A uc003nyd.1 - 2 1263 c.1087C>T c.(1087-1089)CGC>TGC p.R363C EHMT2_uc003nxz.1_5'Flank|EHMT2_uc003nya.1_5'Flank|EHMT2_uc003nyb.1_5'Flank|C2_uc003nyc.2_Intron|C2_uc011doo.1_Intron|C2_uc011dop.1_5'Flank NM_181842 NP_862825 Q9Y330 ZBT12_HUMAN zinc finger and BTB domain containing 12 363 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TTGCCACAGCGAGGGCACATG 0.562 NA 20 65 0 0 0 0 ZBTB12 221527 broad.mit.edu 37 6 31868111 31868111 + Missense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr6:31868111G>C uc003nyd.1 - 2 1148 c.972C>G c.(970-972)TTC>TTG p.F324L EHMT2_uc003nxz.1_5'Flank|EHMT2_uc003nya.1_5'Flank|EHMT2_uc003nyb.1_5'Flank|C2_uc003nyc.2_Intron|C2_uc011doo.1_Intron|C2_uc011dop.1_5'Flank NM_181842 NP_862825 Q9Y330 ZBT12_HUMAN zinc finger and BTB domain containing 12 324 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TTCCACCTGAGAAGCCCCCAG 0.483 NA 7 35 0 0 0 0 KIF6 221458 broad.mit.edu 37 6 39330286 39330286 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr6:39330286C>T uc003oot.2 - 17 1965 c.1870G>A c.(1870-1872)GAA>AAA p.E624K KIF6_uc003oos.2_Missense_Mutation_p.E75K|KIF6_uc010jwz.1_5'UTR|KIF6_uc010jxa.1_Missense_Mutation_p.E415K|KIF6_uc011dua.1_Missense_Mutation_p.E607K|KIF6_uc010jxb.1_Missense_Mutation_p.E568K NM_145027 NP_659464 Q6ZMV9 KIF6_HUMAN kinesin family member 6 624 Potential. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1) 3 GCCATGTTTTCCGAGATTCCT 0.512 NA OREG0017415 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 137 0 0 0 0 TREM2 54209 broad.mit.edu 37 6 41126780 41126780 + Silent SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr6:41126780G>A uc003opy.2 - 4 609 c.507C>T c.(505-507)CCC>CCT p.P169P TREM2_uc003opz.2_Missense_Mutation_p.L213F|TREM2_uc010jxl.1_Intron NM_018965 NP_061838 Q9NZC2 TREM2_HUMAN triggering receptor expressed on myeloid cells 2 169 Extracellular (Potential). axon guidance|humoral immune response extracellular region|integral to membrane|plasma membrane receptor activity ovary(1) 1 Ovarian(28;0.0418)|Colorectal(47;0.196) TGGGTGGGAAGGGGATTTCTC 0.547 NA 6 15 0 0 0 0 YIPF3 25844 broad.mit.edu 37 6 43481162 43481162 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr6:43481162G>A uc003ovl.1 - 5 626 c.469C>T c.(469-471)CTC>TTC p.L157F C6orf154_uc003ovk.1_5'Flank|YIPF3_uc011dvk.1_Missense_Mutation_p.L122F|YIPF3_uc010jyr.1_Missense_Mutation_p.L163F|YIPF3_uc010jys.1_5'UTR|YIPF3_uc003ovm.1_Missense_Mutation_p.L31F|YIPF3_uc010jyt.1_Missense_Mutation_p.L106F NM_015388 NP_056203 Q9GZM5 YIPF3_HUMAN natural killer cell-specific antigen KLIP1 157 Helical; (Potential). cell differentiation integral to membrane|plasma membrane|transport vesicle 0 all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711) ACCAGCATGAGAGGTCCATAG 0.478 NA 6 46 0 0 0 0 XPO5 57510 broad.mit.edu 37 6 43538730 43538730 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr6:43538730C>T uc003ovp.2 - 4 513 c.302G>A c.(301-303)GGA>GAA p.G101E NM_020750 NP_065801 Q9HAV4 XPO5_HUMAN exportin 5 101 Necessary for interaction with Ran. gene silencing by RNA cytosol|nucleoplasm protein binding|tRNA binding skin(2)|breast(1)|kidney(1) 4 all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243) all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524) GTTCAATGTTCCCTGAAAAAG 0.408 NA 5 127 0 0 0 0 TFAP2B 7021 broad.mit.edu 37 6 50803961 50803961 + Silent SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr6:50803961C>T uc003pag.2 + 4 955 c.789C>T c.(787-789)CTC>CTT p.L263L NM_003221 NP_003212 Q92481 AP2B_HUMAN transcription factor AP-2 beta 263 nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity 0 Lung NSC(77;0.156) CTGAATGCCTCAATGCATCTC 0.428 NA 13 46 0 0 0 0 DST 667 broad.mit.edu 37 6 56437028 56437028 + Missense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr6:56437028G>C uc003pdf.2 - 47 7262 c.7234C>G c.(7234-7236)CTT>GTT p.L2412V DST_uc003pcz.3_Missense_Mutation_p.L2234V|DST_uc011dxj.1_Missense_Mutation_p.L2263V|DST_uc011dxk.1_Missense_Mutation_p.L2274V|DST_uc003pcy.3_Missense_Mutation_p.L1908V|DST_uc010kaa.1_RNA NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 4320 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) AAAACTTCAAGATGTTTCTTG 0.333 NA 5 11 0 0 0 0 ZNF451 26036 broad.mit.edu 37 6 57012646 57012646 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr6:57012646C>T uc003pdm.1 + 10 1987 c.1763C>T c.(1762-1764)TCA>TTA p.S588L ZNF451_uc003pdl.2_Missense_Mutation_p.S588L|ZNF451_uc003pdn.1_Missense_Mutation_p.S588L|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.S588L NM_001031623 NP_001026794 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 isoform 1 588 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1)|pancreas(1) 2 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) AAGCCTTCATCAGCTATTACT 0.393 NA 15 62 0 0 0 0 LMBRD1 55788 broad.mit.edu 37 6 70411789 70411789 + Silent SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr6:70411789G>A uc003pfa.2 - 10 1087 c.972C>T c.(970-972)TTC>TTT p.F324F LMBRD1_uc003pey.2_Silent_p.F120F|LMBRD1_uc003pez.2_Silent_p.F251F|LMBRD1_uc010kal.2_Silent_p.F251F|LMBRD1_uc003pfb.2_RNA NM_018368 NP_060838 Q9NUN5 LMBD1_HUMAN liver regeneration p-53 related protein 324 Helical; Name=6; (Potential). interspecies interaction between organisms|transport integral to membrane|lysosomal membrane cobalamin binding ovary(1) 1 ACTTTGACAAGAAGAGAGAAA 0.294 NA 4 15 0 0 0 0 LMBRD1 55788 broad.mit.edu 37 6 70423682 70423682 + Missense_Mutation SNP T T C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr6:70423682T>C uc003pfa.2 - 9 885 c.770A>G c.(769-771)GAT>GGT p.D257G LMBRD1_uc003pey.2_Missense_Mutation_p.D53G|LMBRD1_uc003pez.2_Missense_Mutation_p.D184G|LMBRD1_uc010kal.2_Missense_Mutation_p.D184G|LMBRD1_uc003pfb.2_RNA NM_018368 NP_060838 Q9NUN5 LMBD1_HUMAN liver regeneration p-53 related protein 257 Cytoplasmic (Potential). interspecies interaction between organisms|transport integral to membrane|lysosomal membrane cobalamin binding ovary(1) 1 AGGTCGACCATCTTTGCTCTG 0.363 NA 7 23 0 0 0 0 BCKDHB 594 broad.mit.edu 37 6 81053418 81053418 + Missense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr6:81053418G>C uc003pjd.2 + 10 1143 c.1076G>C c.(1075-1077)AGA>ACA p.R359T BCKDHB_uc003pje.2_Missense_Mutation_p.R359T NM_000056 NP_000047 P21953 ODBB_HUMAN branched chain keto acid dehydrogenase E1 beta 359 branched chain family amino acid catabolic process mitochondrial alpha-ketoglutarate dehydrogenase complex 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding 0 all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149) BRCA - Breast invasive adenocarcinoma(397;0.0291) CCTATATCAAGAGTATGTGGT 0.373 NA 5 45 0 0 0 0 MCM9 254394 broad.mit.edu 37 6 119252640 119252640 + Silent SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr6:119252640G>A uc003pyh.2 - 2 512 c.249C>T c.(247-249)TCC>TCT p.S83S NM_153255 NP_694987 Q9NXL9 MCM9_HUMAN minichromosome maintenance complex component 9 83 DNA replication ATP binding|DNA binding|nucleoside-triphosphatase activity ovary(1) 1 all_cancers(87;0.122)|all_epithelial(87;0.179) GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194) GCTGAGAAAGGGACTGGAGAA 0.423 NA 7 28 0 0 0 0 LAMA2 3908 broad.mit.edu 37 6 129687405 129687405 + Missense_Mutation SNP G G T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr6:129687405G>T uc003qbn.2 + 33 4864 c.4759G>T c.(4759-4761)GCT>TCT p.A1587S LAMA2_uc003qbo.2_Missense_Mutation_p.A1587S NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 1587 Domain II and I. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CGGTGACTTGGCTCGCCTGGA 0.478 NA 16 52 6.94e-10 9.37e-10 1 0 MAP3K5 4217 broad.mit.edu 37 6 137019686 137019686 + Silent SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr6:137019686G>A uc003qhc.2 - 4 1108 c.747C>T c.(745-747)ATC>ATT p.I249I MAP3K5_uc011edk.1_Silent_p.I94I|MAP3K5_uc010kgw.1_Silent_p.I249I NM_005923 NP_005914 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 249 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding ovary(2)|skin(2)|lung(1) 5 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) GAGGTAAGCAGATGGGTCCAA 0.413 NA 6 23 0 0 0 0 HIVEP2 3097 broad.mit.edu 37 6 143081778 143081778 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr6:143081778C>T uc003qjd.2 - 9 6390 c.5647G>A c.(5647-5649)GCA>ACA p.A1883T NM_006734 NP_006725 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer 1883 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) TGCTTCTCTGCTGCTTTGTGC 0.294 NA 4 14 0 0 0 0 SASH1 23328 broad.mit.edu 37 6 148865685 148865685 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr6:148865685G>A uc003qme.1 + 18 3554 c.3079G>A c.(3079-3081)GCC>ACC p.A1027T SASH1_uc011eeb.1_Missense_Mutation_p.A788T|SASH1_uc003qmf.1_Missense_Mutation_p.A437T NM_015278 NP_056093 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 1027 Pro-rich. protein binding central_nervous_system(1) 1 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) GGGCAGCCCCGCCAGCCCCAC 0.701 NA 5 37 0 0 0 0 ZBTB2 57621 broad.mit.edu 37 6 151686993 151686993 + Missense_Mutation SNP T T C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr6:151686993T>C uc003qoh.2 - 3 1343 c.1208A>G c.(1207-1209)AAC>AGC p.N403S NM_020861 NP_065912 Q8N680 ZBTB2_HUMAN zinc finger and BTB domain containing 2 403 C2H2-type 3; atypical. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.63e-11) GGCAGCCTGGTTGGCCCTGCA 0.517 NA 19 51 0 0 0 0 WIPI2 26100 broad.mit.edu 37 7 5232766 5232766 + Nonsense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr7:5232766C>G uc003snv.2 + 2 308 c.92C>G c.(91-93)TCA>TGA p.S31* WIPI2_uc003snw.2_Nonsense_Mutation_p.S31*|WIPI2_uc003snx.2_Intron|WIPI2_uc003sny.2_Intron|WIPI2_uc010ksv.2_Translation_Start_Site NM_015610 NP_056425 Q9Y4P8 WIPI2_HUMAN WD repeat domain, phosphoinositide interacting 2 31 autophagic vacuole assembly cytosol|PAS complex|pre-autophagosomal structure membrane phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding ovary(2) 2 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14) AAAGGGGCATCAAGAGCAGCT 0.388 NA 8 98 0 0 0 0 EIF2AK1 27102 broad.mit.edu 37 7 6086667 6086667 + Missense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr7:6086667C>G uc003spp.2 - 5 651 c.505G>C c.(505-507)GAA>CAA p.E169Q EIF2AK1_uc003spq.2_Missense_Mutation_p.E169Q|EIF2AK1_uc011jwm.1_Missense_Mutation_p.E45Q|EIF2AK1_uc003spr.1_5'Flank NM_014413 NP_055228 Q9BQI3 E2AK1_HUMAN eukaryotic translation initiation factor 2-alpha 169 Protein kinase. negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress cytoplasm ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity upper_aerodigestive_tract(1)|stomach(1)|lung(1)|central_nervous_system(1) 4 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14) ATGGCAAGTTCTTCAAATTCA 0.348 NA 7 23 0 0 0 0 C7orf31 136895 broad.mit.edu 37 7 25218826 25218826 + Missense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr7:25218826C>G uc003sxn.1 - 2 663 c.102G>C c.(100-102)CAG>CAC p.Q34H NM_138811 NP_620166 Q8N865 CG031_HUMAN hypothetical protein LOC136895 34 0 GAGTAACCGTCTGGAGGGGGT 0.428 NA 14 47 0 0 0 0 NFE2L3 9603 broad.mit.edu 37 7 26224729 26224729 + Nonsense_Mutation SNP G G T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr7:26224729G>T uc003sxq.2 + 4 1683 c.1411G>T c.(1411-1413)GAA>TAA p.E471* NM_004289 NP_004280 Q9Y4A8 NF2L3_HUMAN nuclear factor erythroid 2-like 3 471 transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity skin(3)|ovary(1) 4 CTACTACCCAGAACCCAGTAA 0.428 NA 27 97 6.33e-13 8.61e-13 1 0 BMPER 168667 broad.mit.edu 37 7 34101656 34101656 + Missense_Mutation SNP G G A rs139550819 TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr7:34101656G>A uc011kap.1 + 11 1189 c.1075G>A c.(1075-1077)GAA>AAA p.E359K NM_133468 NP_597725 Q8N8U9 BMPER_HUMAN BMP-binding endothelial regulator precursor 359 blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space ovary(2)|central_nervous_system(1) 3 TATTTGCACTGAAAGTAAGTT 0.299 NA 4 33 0 0 0 0 AOAH 313 broad.mit.edu 37 7 36677476 36677476 + Missense_Mutation SNP A A T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr7:36677476A>T uc003tfh.3 - 5 832 c.431T>A c.(430-432)GTC>GAC p.V144D AOAH_uc010kxf.2_Missense_Mutation_p.V144D|AOAH_uc011kba.1_Missense_Mutation_p.V112D NM_001637 NP_001628 P28039 AOAH_HUMAN acyloxyacyl hydrolase precursor 144 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity skin(1) 1 GGACTTCTTGACAATTTGTCT 0.428 NA 7 30 0 0 0 0 ABCB4 5244 broad.mit.edu 37 7 87069132 87069132 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr7:87069132C>T uc003uiv.1 - 14 1658 c.1582G>A c.(1582-1584)GAG>AAG p.E528K ABCB4_uc003uiw.1_Missense_Mutation_p.E528K|ABCB4_uc003uix.1_Missense_Mutation_p.E528K NM_018849 NP_061337 P21439 MDR3_HUMAN ATP-binding cassette, subfamily B, member 4 528 ABC transporter 1.|Cytoplasmic (By similarity). cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity ovary(4)|skin(1)|pancreas(1) 6 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) GCCCCTCTCTCTCCAACCAGG 0.478 NA 26 75 0 0 0 0 ZNF804B 219578 broad.mit.edu 37 7 88956698 88956698 + Missense_Mutation SNP T T C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr7:88956698T>C uc011khi.1 + 3 828 c.290T>C c.(289-291)GTA>GCA p.V97A NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 97 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) GCTCGAAATGTAGCTTCTAAG 0.328 NA HNSCC(36;0.09) 7 50 0 0 0 0 MCM7 4176 broad.mit.edu 37 7 99696975 99696975 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr7:99696975C>T uc003usw.1 - 4 838 c.328G>A c.(328-330)GAG>AAG p.E110K MCM7_uc003usv.1_5'UTR|MCM7_uc003usx.1_5'UTR|AP4M1_uc011kjg.1_5'Flank|AP4M1_uc010lgl.1_5'Flank|AP4M1_uc003utb.3_5'Flank|AP4M1_uc003utc.3_5'Flank|AP4M1_uc010lgm.2_5'Flank|AP4M1_uc003utd.2_5'Flank|AP4M1_uc011kjh.1_5'Flank|AP4M1_uc003ute.3_5'Flank|AP4M1_uc003utf.3_5'Flank NM_005916 NP_005907 P33993 MCM7_HUMAN minichromosome maintenance complex component 7 110 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|protein binding 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Atorvastatin(DB01076) CTCCGCTGCTCCATCATTAGC 0.483 NA 23 100 0 0 0 0 MUC17 140453 broad.mit.edu 37 7 100678577 100678577 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr7:100678577G>A uc003uxp.1 + 3 3933 c.3880G>A c.(3880-3882)GAG>AAG p.E1294K MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 1294 Extracellular (Potential).|Ser-rich.|19.|59 X approximate tandem repeats. 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) GACCAGTCCTGAGGCTAGCAC 0.473 NA 107 407 0 0 0 0 RELN 5649 broad.mit.edu 37 7 103137182 103137182 + Missense_Mutation SNP T T C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr7:103137182T>C uc003vca.2 - 56 9144 c.8984A>G c.(8983-8985)TAC>TGC p.Y2995C RELN_uc010liz.2_Missense_Mutation_p.Y2995C NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 2995 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GTATTTCTGGTAATCCATCTC 0.418 NA 12 47 0 0 0 0 TMEM168 64418 broad.mit.edu 37 7 112424433 112424433 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr7:112424433G>A uc003vgn.2 - 2 840 c.448C>T c.(448-450)CGG>TGG p.R150W TMEM168_uc010lju.2_Missense_Mutation_p.R150W|TMEM168_uc011kmr.1_Intron NM_022484 NP_071929 Q9H0V1 TM168_HUMAN transmembrane protein 168 150 integral to membrane|transport vesicle ovary(1)|central_nervous_system(1) 2 AAAGTGGGCCGATGACGGACA 0.408 NA 7 60 0 0 0 0 CADPS2 93664 broad.mit.edu 37 7 121960236 121960236 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr7:121960236C>T uc010lkp.2 - 29 4037 c.3874G>A c.(3874-3876)GAA>AAA p.E1292K CADPS2_uc011knx.1_Missense_Mutation_p.E667K|CADPS2_uc003vkg.3_Missense_Mutation_p.E946K|CADPS2_uc010lkq.2_Missense_Mutation_p.E1251K NM_017954 NP_060424 Q86UW7 CAPS2_HUMAN Ca2+-dependent activator protein for secretion 2 1292 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding ovary(1)|central_nervous_system(1) 2 TCTTCTTCTTCGTCACTGTCT 0.413 NA 20 78 0 0 0 0 GCC1 79571 broad.mit.edu 37 7 127222320 127222320 + Silent SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr7:127222320G>A uc003vma.2 - 2 2494 c.2076C>T c.(2074-2076)GGC>GGT p.G692G NM_024523 NP_078799 Q96CN9 GCC1_HUMAN Golgi coiled-coil protein 1 692 Potential. Golgi membrane|plasma membrane protein binding ovary(2) 2 GATGCCGTTCGCCCTCCTCCA 0.582 NA 18 58 0 0 0 0 FLNC 2318 broad.mit.edu 37 7 128485033 128485033 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr7:128485033G>A uc003vnz.3 + 21 3723 c.3514G>A c.(3514-3516)GAG>AAG p.E1172K FLNC_uc003voa.3_Missense_Mutation_p.E1172K NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 1172 Filamin 10. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 CAAGGTCGGTGAGGCAGCCAC 0.652 NA 13 35 0 0 0 0 STRA8 346673 broad.mit.edu 37 7 134916760 134916760 + Silent SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr7:134916760C>G uc011kpx.1 + 1 30 c.30C>G c.(28-30)CTC>CTG p.L10L NM_182489 NP_872295 Q7Z7C7 STRA8_HUMAN STRA8 10 DNA replication|regulation of transcription, DNA-dependent cytoplasm|nucleus 0 ACAAGATCCTCTTTTTCAATC 0.488 NA 16 71 0 0 0 0 TRYX3 136541 broad.mit.edu 37 7 141952098 141952098 + Silent SNP G G T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr7:141952098G>T uc003vxb.2 - 5 989 c.669C>A c.(667-669)ATC>ATA p.I223I TRYX3_uc003vxc.3_Silent_p.I223I NM_001001317 NP_001001317 Q8IYP2 PRS58_HUMAN trypsin X3 precursor 223 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity 0 Melanoma(164;0.0272) TTTTGGCATAGATGCCAACAT 0.458 NA 7 19 0.00198382 0.0025387 1 0 TPK1 27010 broad.mit.edu 37 7 144245667 144245667 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr7:144245667C>T uc003weq.2 - 8 633 c.530G>A c.(529-531)GGA>GAA p.G177E TPK1_uc003weo.2_Missense_Mutation_p.G123E|TPK1_uc003wep.2_RNA|TPK1_uc003wer.2_Missense_Mutation_p.G128E|TPK1_uc003wes.2_RNA NM_022445 NP_071890 Q9H3S4 TPK1_HUMAN thiamin pyrophosphokinase 1 isoform a 177 thiamine diphosphate biosynthetic process cytosol ATP binding|kinase activity|thiamine diphosphokinase activity ovary(2) 2 Thiamine(DB00152) ACCCTCCATTCCAGTGTCTAC 0.468 NA 19 60 0 0 0 0 ABCF2 10061 broad.mit.edu 37 7 150920888 150920888 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr7:150920888C>T uc003wjp.2 - 5 709 c.598G>A c.(598-600)GAT>AAT p.D200N ABCF2_uc003wjo.1_Missense_Mutation_p.D200N NM_007189 NP_009120 Q9UG63 ABCF2_HUMAN ATP-binding cassette, sub-family F, member 2 200 ABC transporter 1. ATP-binding cassette (ABC) transporter complex|mitochondrial envelope ATP binding|ATPase activity|transporter activity central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTGTCGGCATCCAGCTCCTCC 0.602 NA 10 14 0 0 0 0 GALNTL5 168391 broad.mit.edu 37 7 151716792 151716792 + Missense_Mutation SNP G G A rs149825214 byFrequency TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr7:151716792G>A uc003wkp.2 + 9 1461 c.1238G>A c.(1237-1239)CGT>CAT p.R413H GALNTL5_uc003wkq.2_Missense_Mutation_p.R164H|GALNTL5_uc003wkr.2_RNA|GALNTL5_uc003wks.2_RNA|GALNTL5_uc010lqf.2_Missense_Mutation_p.R302H NM_145292 NP_660335 Q7Z4T8 GLTL5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 413 Lumenal (Potential). Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups ovary(2) 2 all_neural(206;0.187) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00427) UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166) ATTCGCGAGCGTGTTGAGTTA 0.423 NA 6 53 0 0 0 0 C8orf42 157695 broad.mit.edu 37 8 444518 444518 + Missense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr8:444518C>G uc003wpd.2 - 2 762 c.188G>C c.(187-189)AGA>ACA p.R63T C8orf42_uc011kwg.1_Missense_Mutation_p.R63T NM_175075 NP_778250 Q86YL5 CH042_HUMAN hypothetical protein LOC157695 63 0 Ovarian(12;0.0481)|Colorectal(14;0.0815)|Hepatocellular(245;0.0968)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122) Epithelial(5;5.16e-14)|OV - Ovarian serous cystadenocarcinoma(5;7.35e-07)|BRCA - Breast invasive adenocarcinoma(11;4.17e-06)|COAD - Colon adenocarcinoma(149;0.0255) AGATTTACATCTTTCCAGGAG 0.398 NA 5 47 0 0 0 0 MTUS1 57509 broad.mit.edu 37 8 17532707 17532707 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr8:17532707G>A uc003wxv.2 - 8 3367 c.2893C>T c.(2893-2895)CGG>TGG p.R965W MTUS1_uc003wxt.2_Missense_Mutation_p.R212W|MTUS1_uc011kyg.1_Missense_Mutation_p.R110W|MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Missense_Mutation_p.R911W|MTUS1_uc003wxs.2_Missense_Mutation_p.R131W NM_001001924 NP_001001924 Q9ULD2 MTUS1_HUMAN mitochondrial tumor suppressor 1 isoform 1 965 Potential. Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle ovary(1)|skin(1) 2 Colorectal(111;0.0778) AGCTCTCCCCGGAGGTTAACA 0.463 NA 10 42 0 0 0 0 CSGALNACT1 55790 broad.mit.edu 37 8 19363042 19363042 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr8:19363042C>T uc011kyn.1 - 4 1368 c.304G>A c.(304-306)GAT>AAT p.D102N CSGALNACT1_uc011kyo.1_Missense_Mutation_p.D102N|CSGALNACT1_uc003wzg.2_RNA|CSGALNACT1_uc011kyp.1_Missense_Mutation_p.D101N|CSGALNACT1_uc003wzh.2_RNA NM_001130518 NP_001123990 Q8TDX6 CGAT1_HUMAN chondroitin sulfate 102 Lumenal (Potential). anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process Golgi cisterna membrane|integral to Golgi membrane|soluble fraction glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity central_nervous_system(2)|ovary(1) 3 Colorectal(111;0.182) CCAGCAGCATCGCTGGCTTGG 0.627 NA 20 42 0 0 0 0 ATP6V1B2 526 broad.mit.edu 37 8 20074737 20074737 + Missense_Mutation SNP C C A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr8:20074737C>A uc003wzp.2 + 12 1382 c.1168C>A c.(1168-1170)CCA>ACA p.P390T ATP6V1B2_uc003wzq.1_5'Flank NM_001693 NP_001684 P21281 VATB2_HUMAN vacuolar H+ATPase B2 390 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism 0 Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211) CAAGATTTATCCACCTATCAA 0.363 NA 13 79 1.58e-08 2.13e-08 1 0 C8orf41 80185 broad.mit.edu 37 8 33357860 33357860 + Nonsense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr8:33357860G>A uc003xjl.3 - 6 1933 c.1408C>T c.(1408-1410)CAA>TAA p.Q470* C8orf41_uc010lvu.1_RNA|MAK16_uc003xjj.2_3'UTR|C8orf41_uc003xjk.3_Nonsense_Mutation_p.Q439*|C8orf41_uc010lvv.2_Intron|C8orf41_uc003xjm.3_Nonsense_Mutation_p.Q470* NM_025115 NP_079391 Q6NXR4 CH041_HUMAN hypothetical protein LOC80185 470 binding 0 KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111) ACCCGTCCTTGAGAACAGCGG 0.458 NA 10 41 0 0 0 0 HGSNAT 138050 broad.mit.edu 37 8 43053070 43053070 + Nonsense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr8:43053070G>A uc003xpx.3 + 17 1749 c.1701G>A c.(1699-1701)TGG>TGA p.W567* NM_152419 NP_689632 Q68CP4 HGNAT_HUMAN heparan-alpha-glucosaminide N-acetyltransferase 595 Helical; (Potential). lysosomal transport|protein oligomerization integral to membrane|lysosomal membrane heparan-alpha-glucosaminide N-acetyltransferase activity 0 Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184) all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17) AGGGGCTGTGGACAGGAACCC 0.552 NA 6 22 0 0 0 0 RP1 6101 broad.mit.edu 37 8 55539467 55539467 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr8:55539467G>A uc003xsd.1 + 4 3173 c.3025G>A c.(3025-3027)GTT>ATT p.V1009I RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 1009 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TGAGACACAGGTTGGATCTCT 0.383 NA 44 193 0 0 0 0 CYP7B1 9420 broad.mit.edu 37 8 65517375 65517375 + Nonsense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr8:65517375G>C uc003xvj.2 - 5 1301 c.1097C>G c.(1096-1098)TCA>TGA p.S366* NM_004820 NP_004811 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, 366 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity ovary(3) 3 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) AATGGTGGTTGAATATGAGGA 0.443 NA 25 36 0 0 0 0 GEM 2669 broad.mit.edu 37 8 95272531 95272531 + Missense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr8:95272531G>C uc003ygj.2 - 2 450 c.201C>G c.(199-201)ATC>ATG p.I67M GEM_uc003ygi.2_Missense_Mutation_p.I67M NM_005261 NP_005252 P55040 GEM_HUMAN GTP-binding mitogen-induced T-cell protein 67 cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction internal side of plasma membrane calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding lung(1) 1 Breast(36;4.65e-06) Myeloproliferative disorder(644;0.204) BRCA - Breast invasive adenocarcinoma(8;0.00691) ACTCAGAGGAGATGACTGAGT 0.587 NA 11 53 0 0 0 0 RNF19A 25897 broad.mit.edu 37 8 101287254 101287254 + Missense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr8:101287254C>G uc003yjj.1 - 4 1127 c.810G>C c.(808-810)GAG>GAC p.E270D RNF19A_uc003yjk.1_Missense_Mutation_p.E270D NM_015435 NP_056250 Q9NV58 RN19A_HUMAN ring finger protein 19 270 microtubule cytoskeleton organization|protein modification process centrosome|integral to membrane ligase activity|transcription factor binding|zinc ion binding ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166) Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525) TCTGGGCTCTCTCTTGTCGAG 0.428 NA 10 69 0 0 0 0 EPPK1 83481 broad.mit.edu 37 8 144942096 144942096 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr8:144942096C>T uc003zaa.1 - 1 5339 c.5326G>A c.(5326-5328)GTG>ATG p.V1776M NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 1776 cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GATTGCAACACGTGTCTCGTG 0.527 NA 6 65 0 0 0 0 CPSF1 29894 broad.mit.edu 37 8 145623786 145623786 + Silent SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr8:145623786G>A uc003zcj.2 - 19 1875 c.1800C>T c.(1798-1800)TTC>TTT p.F600F NM_013291 NP_037423 Q10570 CPSF1_HUMAN cleavage and polyadenylation specific factor 1, 600 mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding skin(1) 1 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) CCTGAGTGGCGAAGCCACTGG 0.657 NA 6 181 0 0 0 0 DOCK8 81704 broad.mit.edu 37 9 368027 368027 + Silent SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr9:368027C>G uc003zgf.2 + 15 1801 c.1689C>G c.(1687-1689)CTC>CTG p.L563L DOCK8_uc010mgu.2_5'UTR|DOCK8_uc010mgv.2_Silent_p.L495L|DOCK8_uc010mgw.1_5'UTR|DOCK8_uc003zgk.2_5'UTR|DOCK8_uc003zgh.2_RNA NM_203447 NP_982272 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 563 DHR-1. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3)|central_nervous_system(3) 6 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) GAAACCTTCTCTATGTCTACC 0.378 NA 9 56 0 0 0 0 VLDLR 7436 broad.mit.edu 37 9 2645067 2645067 + Missense_Mutation SNP G G A rs140062795 byFrequency TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr9:2645067G>A uc003zhk.1 + 9 1694 c.1297G>A c.(1297-1299)GTG>ATG p.V433M VLDLR_uc003zhl.1_Missense_Mutation_p.V433M|VLDLR_uc003zhm.1_RNA|VLDLR_uc003zhn.1_Missense_Mutation_p.V392M NM_003383 NP_003374 P98155 VLDLR_HUMAN very low density lipoprotein receptor isoform a 433 Extracellular (Potential).|EGF-like 2; calcium-binding (Potential). cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123) TGCTACTGGCGTGTGCAAGGC 0.418 NA 6 108 0 0 0 0 KIAA2026 158358 broad.mit.edu 37 9 5922659 5922659 + Nonsense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr9:5922659G>A uc003zjq.3 - 8 3553 c.3337C>T c.(3337-3339)CAG>TAG p.Q1113* KIAA2026_uc010mht.2_Nonsense_Mutation_p.Q288* NM_001017969 NP_001017969 Q5HYC2 K2026_HUMAN hypothetical protein LOC158358 1113 ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) TCTTTATGCTGAATCACAAAA 0.373 NA 27 100 0 0 0 0 TESK1 7016 broad.mit.edu 37 9 35605991 35605991 + Missense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr9:35605991G>C uc003zxa.2 + 2 566 c.230G>C c.(229-231)CGA>CCA p.R77P TESK1_uc003zwz.1_RNA|TESK1_uc010mks.2_5'UTR NM_006285 NP_006276 Q15569 TESK1_HUMAN testis-specific protein kinase 1 77 Protein kinase. cell junction assembly|spermatogenesis cytosol ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1) 7 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GTTCGGCACCGACAGTCAGGG 0.672 NA 5 71 0 0 0 0 TESK1 7016 broad.mit.edu 37 9 35606017 35606017 + Missense_Mutation SNP A A C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr9:35606017A>C uc003zxa.2 + 2 592 c.256A>C c.(256-258)AAG>CAG p.K86Q TESK1_uc003zwz.1_RNA|TESK1_uc010mks.2_5'UTR NM_006285 NP_006276 Q15569 TESK1_HUMAN testis-specific protein kinase 1 86 Protein kinase. ATP (By similarity). cell junction assembly|spermatogenesis cytosol ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1) 7 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CATGGTGCTGAAGATGAACAA 0.657 NA 5 70 0 0 0 0 FBXO10 26267 broad.mit.edu 37 9 37531963 37531963 + Missense_Mutation SNP A A C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr9:37531963A>C uc004aab.2 - 4 1561 c.1512T>G c.(1510-1512)ATT>ATG p.I504M FBXO10_uc004aac.2_Missense_Mutation_p.I520M|FBXO10_uc004aad.2_Missense_Mutation_p.I54M NM_012166 NP_036298 Q9UK96 FBX10_HUMAN F-box protein 10 504 PbH1 6. ubiquitin ligase complex ubiquitin-protein ligase activity lung(5) 5 GBM - Glioblastoma multiforme(29;0.0107) CATTGTGGTAAATGTTGTTGC 0.502 NA 15 45 0 0 0 0 TMC1 117531 broad.mit.edu 37 9 75441857 75441857 + Missense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr9:75441857C>G uc004aiz.1 + 21 2616 c.2076C>G c.(2074-2076)ATC>ATG p.I692M TMC1_uc010moz.1_Missense_Mutation_p.I650M|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Missense_Mutation_p.I546M|TMC1_uc010mpa.1_Missense_Mutation_p.I546M NM_138691 NP_619636 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 692 Extracellular (Potential). sensory perception of sound integral to membrane ovary(1) 1 TGGCGAAGATCTTGAGACAGC 0.463 NA 47 151 0 0 0 0 FLJ46321 389763 broad.mit.edu 37 9 84607429 84607429 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr9:84607429G>A uc004amn.2 + 4 2091 c.2044G>A c.(2044-2046)GAG>AAG p.E682K NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 682 integral to membrane 0 ACTCAGCTCTGAGGTAAGGAA 0.507 NA 15 85 0 0 0 0 AGTPBP1 23287 broad.mit.edu 37 9 88247624 88247624 + Silent SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr9:88247624C>T uc011ltd.1 - 13 2001 c.1968G>A c.(1966-1968)CCG>CCA p.P656P AGTPBP1_uc004aod.3_Silent_p.P282P|AGTPBP1_uc011ltc.1_Silent_p.P554P|AGTPBP1_uc010mqc.2_Silent_p.P616P|AGTPBP1_uc011lte.1_Silent_p.P668P NM_015239 NP_056054 Q9UPW5 CBPC1_HUMAN ATP/GTP binding protein 1 656 C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis cytosol|mitochondrion|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding ovary(4)|large_intestine(2)|skin(1) 7 TGAATGGAGGCGGAATGTGAC 0.403 NA 11 56 0 0 0 0 FAM75C1 441452 broad.mit.edu 37 9 90537484 90537484 + Missense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr9:90537484G>C uc010mqi.2 + 4 2691 c.2662G>C c.(2662-2664)GAT>CAT p.D888H FAM75C1_uc004apq.3_Missense_Mutation_p.D871H NM_001145124 NP_001138596 family with sequence similarity 75, member C1 0 GCTCCTTCCAGATGGGCAAGC 0.552 NA 6 157 0 0 0 0 WDR31 114987 broad.mit.edu 37 9 116079162 116079162 + Missense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr9:116079162C>G uc004bhe.2 - 11 1223 c.971G>C c.(970-972)GGA>GCA p.G324A uc004bhb.2_5'Flank|WDR31_uc004bhc.2_Missense_Mutation_p.G323A|WDR31_uc004bhd.2_Missense_Mutation_p.G199A|WDR31_uc004bhf.2_RNA NM_001012361 NP_001012361 Q8NA23 WDR31_HUMAN WD repeat domain 31 isoform 1 324 0 GGGTCCTGATCCATCCAGAGA 0.483 NA 17 32 0 0 0 0 ZNF618 114991 broad.mit.edu 37 9 116812166 116812166 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr9:116812166G>A uc004bid.2 + 15 2683 c.2584G>A c.(2584-2586)GCA>ACA p.A862T ZNF618_uc004bic.2_Missense_Mutation_p.A769T|ZNF618_uc011lxi.1_Missense_Mutation_p.A829T|ZNF618_uc011lxj.1_Missense_Mutation_p.A830T|ZNF618_uc010mvb.2_Missense_Mutation_p.A452T NM_133374 NP_588615 Q5T7W0 ZN618_HUMAN zinc finger protein 618 862 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CGAGAACCCCGCAGCTCAGGA 0.597 NA 6 108 0 0 0 0 LRSAM1 90678 broad.mit.edu 37 9 130263293 130263293 + Silent SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr9:130263293G>A uc004brb.1 + 25 2262 c.1917G>A c.(1915-1917)CTG>CTA p.L639L LRSAM1_uc010mxk.1_Silent_p.L612L|LRSAM1_uc004brc.1_Silent_p.L639L|LRSAM1_uc004brd.1_Silent_p.L639L|LRSAM1_uc004bre.1_Silent_p.L219L|LRSAM1_uc004brg.1_Silent_p.L70L NM_001005373 NP_001005373 Q6UWE0 LRSM1_HUMAN leucine rich repeat and sterile alpha motif 639 negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis cytoplasm|extracellular region|membrane part hormone activity|ubiquitin-protein ligase activity|zinc ion binding 0 CCACAGAGCTGAAACCACCAA 0.647 NA 20 71 0 0 0 0 FAM129B 64855 broad.mit.edu 37 9 130270171 130270171 + Missense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr9:130270171C>G uc004brh.2 - 13 1831 c.1629G>C c.(1627-1629)CAG>CAC p.Q543H FAM129B_uc004bri.2_Missense_Mutation_p.Q530H|FAM129B_uc004brj.3_3'UTR NM_022833 NP_073744 Q96TA1 NIBL1_HUMAN hypothetical protein LOC64855 isoform 1 543 protein binding 0 TCATGACGGTCTGCAGCACCA 0.642 NA 13 95 0 0 0 0 C9orf96 169436 broad.mit.edu 37 9 136260786 136260786 + Silent SNP C C A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr9:136260786C>A uc004cdk.2 + 9 823 c.762C>A c.(760-762)GCC>GCA p.A254A C9orf96_uc004cdl.2_RNA NM_153710 NP_714921 Q8NE28 SGK71_HUMAN hypothetical protein LOC169436 254 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) GCCTGAAGGCCGTCCTGAAGA 0.557 NA 29 66 3.65e-15 5.01e-15 1 0 CXorf22 170063 broad.mit.edu 37 X 35974178 35974178 + Silent SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chrX:35974178C>T uc004ddj.2 + 8 1334 c.1275C>T c.(1273-1275)TTC>TTT p.F425F CXorf22_uc010ngv.2_RNA NM_152632 NP_689845 Q6ZTR5 CX022_HUMAN hypothetical protein LOC170063 425 large_intestine(1)|lung(1)|ovary(1) 3 AACCTTGTTTCATGGGTGAAC 0.363 NA 17 15 0 0 0 0 HUWE1 10075 broad.mit.edu 37 X 53618007 53618007 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chrX:53618007C>T uc004dsp.2 - 34 4450 c.4048G>A c.(4048-4050)GAG>AAG p.E1350K HUWE1_uc004dsn.2_Missense_Mutation_p.E175K NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 1350 UBA. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 AAAAGGTACTCTGTGGCCTGC 0.498 NA 14 11 0 0 0 0 NHSL2 340527 broad.mit.edu 37 X 71359916 71359916 + Missense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chrX:71359916G>C uc011mqa.1 + 6 2518 c.2518G>C c.(2518-2520)GAG>CAG p.E840Q NHSL2_uc004eak.1_Missense_Mutation_p.E474Q|NHSL2_uc010nli.2_Missense_Mutation_p.E609Q NM_001013627 NP_001013649 Q5HYW2 NHSL2_HUMAN NHS-like 2 840 0 Renal(35;0.156) CAGCAAGTCTGAGCCGGAAGA 0.522 NA 7 15 0 0 0 0 ELF4 2000 broad.mit.edu 37 X 129201444 129201444 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chrX:129201444G>A uc004evd.3 - 9 1629 c.1244C>T c.(1243-1245)TCG>TTG p.S415L ELF4_uc004eve.3_Missense_Mutation_p.S415L NM_001421 NP_001412 Q99607 ELF4_HUMAN E74-like factor 4 415 natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter PML body protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GGTCAGGGCCGAGCCCGACCC 0.587 NA T ERG AML 25 38 0 0 0 0 ARHGEF6 9459 broad.mit.edu 37 X 135795499 135795499 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chrX:135795499C>T uc004fab.2 - 7 1225 c.763G>A c.(763-765)GAA>AAA p.E255K ARHGEF6_uc011mwd.1_Missense_Mutation_p.E128K|ARHGEF6_uc011mwe.1_Missense_Mutation_p.E101K NM_004840 NP_004831 Q15052 ARHG6_HUMAN Rac/Cdc42 guanine nucleotide exchange factor 6 255 DH. apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity 0 Acute lymphoblastic leukemia(192;0.000127) TTAGCATATTCTTTTTCAGTG 0.328 NA 24 28 0 0 0 0 PNCK 139728 broad.mit.edu 37 X 152936781 152936781 + Silent SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chrX:152936781C>T uc011myu.1 - 7 1008 c.822G>A c.(820-822)AAG>AAA p.K274K PNCK_uc011myt.1_Silent_p.K208K|PNCK_uc004fia.2_Silent_p.K226K|PNCK_uc004fhz.3_Silent_p.K89K|PNCK_uc010nuh.2_3'UTR|PNCK_uc011myv.1_3'UTR|PNCK_uc011myw.1_3'UTR NM_001039582 NP_001034671 Q6P2M8 KCC1B_HUMAN pregnancy upregulated non-ubiquitously expressed 191 Protein kinase. cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CATCTACGGCCTTCCCGTAGG 0.642 NA 4 38 0 0 0 0 IGSF9 57549 broad.mit.edu 37 1 159912846 159912846 + Frame_Shift_Del DEL G G - TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr1:159912846delG uc001fur.2 - 3 352 c.154delC c.(154-156)CTGfs p.L52fs IGSF9_uc001fuq.2_Frame_Shift_Del_p.L52fs NM_001135050 NP_001128522 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 isoform a 52 Ig-like 1.|Extracellular (Potential). cell junction|integral to membrane|synapse ovary(2)|central_nervous_system(2)|large_intestine(1) 5 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) ATGACATGCAgggggggccgg 0.522 NA 10 62 --- --- --- --- NA NA NA NA FASLG 356 broad.mit.edu 37 1 172633495 172633495 + Frame_Shift_Del DEL A A - rs35774809 TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr1:172633495delA uc001gis.2 + 3 573 c.416delA c.(415-417)GAAfs p.E139fs FASLG_uc001git.2_Frame_Shift_Del_p.K124fs NM_000639 NP_000630 P48023 TNFL6_HUMAN fas ligand 139 Extracellular (Potential). activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane cytokine activity lung(2)|breast(1) 3 CCACCCCCTGAAAAAAAGGAG 0.408 NA 7 39 --- --- --- --- NA NA NA NA LCOR 84458 broad.mit.edu 37 10 98715469 98715469 + Frame_Shift_Del DEL A A - TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr10:98715469delA uc001kms.1 + 8 1613 c.1092delA c.(1090-1092)GGAfs p.G364fs LCOR_uc001kmr.2_Frame_Shift_Del_p.G364fs|C10orf12_uc009xvg.1_Intron|LCOR_uc001kmt.1_Frame_Shift_Del_p.G364fs|LCOR_uc001kmu.1_Frame_Shift_Del_p.G364fs NM_032440 NP_115816 Q96JN0 LCOR_HUMAN ligand dependent nuclear receptor corepressor 364 HTH psq-type. nucleus DNA binding ovary(3) 3 Colorectal(252;0.162) Epithelial(162;4.43e-09)|all cancers(201;2.96e-07) TTATGAGTGGAAAAATGAGTG 0.468 NA 9 57 --- --- --- --- NA NA NA NA SIRT3 23410 broad.mit.edu 37 11 236149 236149 + Frame_Shift_Del DEL G G - TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr11:236149delG uc001lok.3 - 1 214 c.180delC c.(178-180)CCCfs p.P60fs SIRT3_uc001loj.3_Intron|SIRT3_uc010qvm.1_Frame_Shift_Del_p.P60fs|SIRT3_uc010qvn.1_Intron|SIRT3_uc010qvo.1_Frame_Shift_Del_p.P60fs|SIRT3_uc010qvp.1_Frame_Shift_Del_p.P60fs|SIRT3_uc010qvq.1_Intron|SIRT3_uc009ybt.1_Intron|PSMD13_uc010qvr.1_5'Flank|PSMD13_uc001lol.2_5'Flank|PSMD13_uc001loo.2_5'Flank|PSMD13_uc001lon.2_5'Flank|PSMD13_uc001lom.2_5'Flank NM_012239 NP_036371 Q9NTG7 SIRT3_HUMAN sirtuin 3 isoform a 60 chromatin silencing|protein ADP-ribosylation|protein deacetylation mitochondrial matrix hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding urinary_tract(1) 1 all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129) CCGGGTCCAAGGGCTCACCGC 0.701 NA 2 4 --- --- --- --- NA NA NA NA ILK 3611 broad.mit.edu 37 11 6629392 6629392 + Frame_Shift_Del DEL C C - TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr11:6629392delC uc001mee.2 + 3 341 c.206delC c.(205-207)ACCfs p.T69fs ILK_uc001mef.2_Frame_Shift_Del_p.T69fs|ILK_uc010rap.1_Intron|ILK_uc010raq.1_Frame_Shift_Del_p.T69fs|ILK_uc001meg.2_5'UTR|ILK_uc001meh.2_Frame_Shift_Del_p.T69fs|ILK_uc001mei.2_5'Flank NM_001014794 NP_001014794 Q13418 ILK_HUMAN integrin-linked kinase 69 Interaction with LIMS1.|ANK 3. cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent cytosol|focal adhesion ATP binding|protein serine/threonine kinase activity central_nervous_system(1) 1 Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152) Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163) GGGGATGACACCCCCCTGCAT 0.557 NA 14 52 --- --- --- --- NA NA NA NA CCDC73 493860 broad.mit.edu 37 11 32635181 32635181 + Frame_Shift_Del DEL T T - TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr11:32635181delT uc001mtv.2 - 16 2727 c.2683delA c.(2683-2685)ACTfs p.T895fs NM_001008391 NP_001008392 Q6ZRK6 CCD73_HUMAN sarcoma antigen NY-SAR-79 895 ovary(1)|central_nervous_system(1) 2 Breast(20;0.112) GTTTTCTCAGTTTTTTTATCT 0.403 NA 13 101 --- --- --- --- NA NA NA NA FOLR1 2348 broad.mit.edu 37 11 71903275 71903275 + Frame_Shift_Del DEL G G - TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr11:71903275delG uc001orz.1 + 3 196 c.58delG c.(58-60)GGGfs p.G20fs FOLR1_uc001osa.1_Frame_Shift_Del_p.G20fs|FOLR1_uc001osb.1_Frame_Shift_Del_p.G20fs|FOLR1_uc001osc.1_Frame_Shift_Del_p.G20fs|FOLR1_uc001osd.1_Frame_Shift_Del_p.G20fs NM_016724 NP_057936 P15328 FOLR1_HUMAN folate receptor 1 precursor 20 cell death|folic acid transport|receptor-mediated endocytosis anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction folic acid binding|receptor activity ovary(1) 1 GGCTGTAGTAGGGGAGGCTCA 0.552 NA 18 129 --- --- --- --- NA NA NA NA YAP1 10413 broad.mit.edu 37 11 101981721 101981721 + Frame_Shift_Del DEL C C - TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr11:101981721delC uc001pgt.2 + 1 512 c.142delC c.(142-144)CCCfs p.P48fs YAP1_uc001pgs.2_Frame_Shift_Del_p.P48fs|YAP1_uc001pgu.2_Frame_Shift_Del_p.P48fs|YAP1_uc001pgv.2_Frame_Shift_Del_p.P48fs|YAP1_uc010ruo.1_5'Flank NM_001130145 NP_001123617 P46937 YAP1_HUMAN Yes-associated protein 1, 65kDa isoform 1 48 Pro-rich. cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding ovary(1)|lung(1)|central_nervous_system(1) 3 all_cancers(8;0.000575)|all_epithelial(12;0.00564) Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936) Lung(13;0.245) BRCA - Breast invasive adenocarcinoma(274;0.0189) GCCGCAGGCACCCCCCGCCGG 0.761 NA 5 9 --- --- --- --- NA NA NA NA ITPR2 3709 broad.mit.edu 37 12 26714879 26714879 + Frame_Shift_Del DEL T T - TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr12:26714879delT uc001rhg.2 - 35 5054 c.4637delA c.(4636-4638)AATfs p.N1546fs NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 1546 Cytoplasmic (Potential). activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) AATTCCACGATTTTTTGCTGA 0.318 NA 7 44 --- --- --- --- NA NA NA NA ZNF828 283489 broad.mit.edu 37 13 115090767 115090767 + Frame_Shift_Del DEL T T - TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr13:115090767delT uc010ahb.2 + 3 1779 c.1450delT c.(1450-1452)TTTfs p.F484fs ZNF828_uc001vuv.2_Frame_Shift_Del_p.F484fs|ZNF828_uc010tko.1_Frame_Shift_Del_p.F484fs NM_001164144 NP_001157616 Q96JM3 ZN828_HUMAN zinc finger protein 828 484 Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Mediates interaction with MAD2L2.|Pro-rich. attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation condensed chromosome kinetochore|cytoplasm|nucleus|spindle nucleic acid binding|protein binding|zinc ion binding ovary(2) 2 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_epithelial(44;0.122)|all_lung(25;0.123) BRCA - Breast invasive adenocarcinoma(86;0.104) OV - Ovarian serous cystadenocarcinoma(48;0.193)|Epithelial(10;0.197) GAAGTCTTCCTTTTTTATTGA 0.507 NA 20 488 --- --- --- --- NA NA NA NA STRC 161497 broad.mit.edu 37 15 43910158 43910158 + Frame_Shift_Del DEL G G - TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr15:43910158delG uc001zsf.2 - 2 539 c.461delC c.(460-462)CCTfs p.P154fs STRC_uc010bdl.2_5'UTR|STRC_uc010udz.1_RNA|STRC_uc001zsg.1_Frame_Shift_Del_p.P80fs NM_153700 NP_714544 Q7RTU9 STRC_HUMAN stereocilin precursor 154 sensory perception of sound cell surface 0 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) AGTTGGGGTAGGGGGGCCCCC 0.642 NA 13 128 --- --- --- --- NA NA NA NA SLTM 79811 broad.mit.edu 37 15 59186129 59186129 + Frame_Shift_Del DEL T T - TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr15:59186129delT uc002afp.2 - 12 1627 c.1539delA c.(1537-1539)AAAfs p.K513fs SLTM_uc002afn.2_Frame_Shift_Del_p.K82fs|SLTM_uc002afo.2_Frame_Shift_Del_p.K495fs|SLTM_uc002afq.2_Frame_Shift_Del_p.K82fs|SLTM_uc010bgd.2_Frame_Shift_Del_p.K82fs NM_024755 NP_079031 Q9NWH9 SLTM_HUMAN modulator of estrogen induced transcription 513 apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1) 1 CCTTGCTTTCTTTTTTTTCAG 0.358 NA 8 82 --- --- --- --- NA NA NA NA ANKRD11 29123 broad.mit.edu 37 16 89352507 89352508 + Frame_Shift_Ins INS - - G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr16:89352507_89352508insG uc002fmx.1 - 8 1292_1293 c.831_832insC c.(829-834)CCCACGfs p.P277fs ANKRD11_uc002fmy.1_Frame_Shift_Ins_p.P277fs|ANKRD11_uc002fnc.1_Frame_Shift_Ins_p.P277fs|ANKRD11_uc002fnb.1_Frame_Shift_Ins_p.P234fs NM_013275 NP_037407 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 277_278 ANK 4. nucleus ovary(4)|large_intestine(1)|central_nervous_system(1) 6 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) TTCACCATCGTGGGGGAGTTGG 0.574 NA 47 152 --- --- --- --- NA NA NA NA ABR 29 broad.mit.edu 37 17 1028559 1028559 + Frame_Shift_Del DEL C C - TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr17:1028559delC uc002fsd.2 - 2 315 c.205delG c.(205-207)GATfs p.D69fs ABR_uc002fse.2_Frame_Shift_Del_p.D23fs|ABR_uc010cjq.1_Frame_Shift_Del_p.D81fs NM_021962 NP_068781 Q12979 ABR_HUMAN active breakpoint cluster region-related 69 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity upper_aerodigestive_tract(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.0228) GAGACGCCATCCCCCCCGCCC 0.677 NA 17 73 --- --- --- --- NA NA NA NA GPR179 440435 broad.mit.edu 37 17 36486166 36486166 + Frame_Shift_Del DEL G G - TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr17:36486166delG uc002hpz.2 - 11 3307 c.3286delC c.(3286-3288)CGTfs p.R1096fs NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN GPR158-like 1 precursor 1096 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) CTCCGAGAACGGGTCAGAGCT 0.612 NA 15 57 --- --- --- --- NA NA NA NA NDC80 10403 broad.mit.edu 37 18 2578095 2578096 + Frame_Shift_Del DEL AC AC - TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr18:2578095_2578096delAC uc002kli.2 + 5 613_614 c.431_432delAC c.(430-432)GACfs p.D144fs NM_006101 NP_006092 O14777 NDC80_HUMAN kinetochore associated 2 144 Interaction with the N-terminus of CDCA1.|Nuclear localization.|Interaction with RB1. attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex protein binding ovary(1) 1 GAACTTCCTGACACAAAGTTTG 0.386 NA 23 79 --- --- --- --- NA NA NA NA PTPN2 5771 broad.mit.edu 37 18 12814324 12814325 + Frame_Shift_Ins INS - - T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr18:12814324_12814325insT uc002krp.2 - 7 929_930 c.735_736insA c.(733-738)AAACAAfs p.K245fs PTPN2_uc002krl.2_Frame_Shift_Ins_p.K245fs|PTPN2_uc002krn.2_Frame_Shift_Ins_p.K268fs|PTPN2_uc002kro.2_Frame_Shift_Ins_p.K245fs|PTPN2_uc002krm.2_Frame_Shift_Ins_p.K245fs NM_002828 NP_002819 P17706 PTN2_HUMAN protein tyrosine phosphatase, non-receptor type 245_246 Tyrosine-protein phosphatase. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway endoplasmic reticulum|nucleoplasm protein binding skin(2) 2 Lung NSC(161;8.94e-06) AGTAACACTTGTTTTATGTTAA 0.356 NA 8 25 --- --- --- --- NA NA NA NA SPRED3 399473 broad.mit.edu 37 19 38885397 38885397 + Frame_Shift_Del DEL C C - rs142553701 by1000genomes TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr19:38885397delC uc002oim.2 + 4 542 c.538delC c.(538-540)CCCfs p.P180fs NM_001042522 NP_001035987 Q2MJR0 SPRE3_HUMAN sprouty-related, EVH1 domain containing 3 180 multicellular organismal development central_nervous_system(2)|lung(1)|skin(1) 4 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) GCCGACCACGCCCCCCCAGCG 0.731 NA 4 9 --- --- --- --- NA NA NA NA GTF3C2 2976 broad.mit.edu 37 2 27559195 27559195 + Frame_Shift_Del DEL C C - TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr2:27559195delC uc002rjv.1 - 9 1588 c.1225delG c.(1225-1227)GCAfs p.A409fs GTF3C2_uc010eyy.1_5'Flank|GTF3C2_uc002rju.1_Frame_Shift_Del_p.A420fs|GTF3C2_uc002rjw.1_Frame_Shift_Del_p.A409fs|GTF3C2_uc010eyz.1_Frame_Shift_Del_p.A409fs|uc002rjy.1_RNA NM_001521 NP_001512 Q8WUA4 TF3C2_HUMAN general transcription factor IIIC, polypeptide 409 transcription factor TFIIIC complex ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GAGGCTCCTGCCCCCTCTGGC 0.592 NA 8 128 --- --- --- --- NA NA NA NA PCGF3 10336 broad.mit.edu 37 4 728799 728799 + Frame_Shift_Del DEL C C - TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr4:728799delC uc011bva.1 + 6 664 c.189delC c.(187-189)CACfs p.H63fs PCGF3_uc003gbc.1_RNA|PCGF3_uc003gbd.1_RNA|PCGF3_uc003gbe.2_Frame_Shift_Del_p.H63fs|PCGF3_uc010ibh.2_Frame_Shift_Del_p.H63fs|PCGF3_uc003gbg.1_Frame_Shift_Del_p.H29fs|PCGF3_uc003gbh.2_Frame_Shift_Del_p.H29fs NM_006315 NP_006306 Q3KNV8 PCGF3_HUMAN ring finger protein 3 63 regulation of transcription, DNA-dependent|transcription, DNA-dependent PcG protein complex zinc ion binding 0 ACCAGAGCCACCCCCTGCAGT 0.607 NA 11 27 --- --- --- --- NA NA NA NA FRYL 285527 broad.mit.edu 37 4 48608509 48608509 + Frame_Shift_Del DEL A A - TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr4:48608509delA uc003gyh.1 - 10 1292 c.687delT c.(685-687)TTTfs p.F229fs FRYL_uc003gyk.2_Frame_Shift_Del_p.F229fs NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 229 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 TTTTTACTCGAAAAAATTTCA 0.348 NA 11 24 --- --- --- --- NA NA NA NA IFNGR1 3459 broad.mit.edu 37 6 137519505 137519506 + Frame_Shift_Del DEL CT CT - TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr6:137519505_137519506delCT uc003qho.2 - 7 1235_1236 c.1132_1133delAG c.(1132-1134)AGTfs p.S378fs IFNGR1_uc011edm.1_Frame_Shift_Del_p.S350fs NM_000416 NP_000407 P15260 INGR1_HUMAN interferon gamma receptor 1 precursor 378 Cytoplasmic (Potential). regulation of interferon-gamma-mediated signaling pathway|response to virus integral to plasma membrane interferon-gamma receptor activity upper_aerodigestive_tract(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389) Interferon gamma-1b(DB00033) AGGTGAAGAACTCTCTCTCTCT 0.431 NA 22 75 --- --- --- --- NA NA NA NA LEPROTL1 23484 broad.mit.edu 37 8 29961841 29961841 + Frame_Shift_Del DEL T T - TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f b9d347d7-5df5-4605-ba32-02b85ae3ecda g.chr8:29961841delT uc003xhw.3 + 3 225 c.118delT c.(118-120)TTTfs p.F40fs LEPROTL1_uc003xhx.2_Frame_Shift_Del_p.F40fs NM_015344 NP_056159 O95214 LERL1_HUMAN leptin receptor overlapping transcript-like 1 40 Helical; (Potential). integral to membrane 0 KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113) CTTTGTTCTATTTTTTTACAT 0.323 NA 10 68 --- --- --- --- NA NA NA NA