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 ACHILLES_Top_Genes 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 pox_cutoff isArtifactMode oxoGCut LRRC47 57470 broad.mit.edu 37 1 3701699 3701699 + Silent SNP G G T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr1:3701699G>T uc001akx.1 - 3 1174 c.1146C>A c.(1144-1146)GCC>GCA p.A382A NM_020710 NP_065761 Q8N1G4 LRC47_HUMAN leucine rich repeat containing 47 382 translation phenylalanine-tRNA ligase activity|RNA binding large_intestine(1)|ovary(1) 2 all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21) all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127) Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124) GCCCTTTGACGGCACGGAGCT 0.597 NA 6 52 2.0095e-06 2.47511e-06 0.001984 1 0 ACOT7 11332 broad.mit.edu 37 1 6324699 6324699 + Silent SNP C C T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr1:6324699C>T uc001ams.2 - 9 1258 c.1101G>A c.(1099-1101)CAG>CAA p.Q367Q ACOT7_uc010nzq.1_Silent_p.Q252Q|ACOT7_uc001amt.2_Silent_p.Q357Q|ACOT7_uc001amu.2_RNA|ACOT7_uc001amv.2_RNA|ACOT7_uc001amq.2_Silent_p.Q316Q|ACOT7_uc001amr.2_Silent_p.Q337Q NM_181864 NP_863654 O00154 BACH_HUMAN acyl-CoA thioesterase 7 isoform hBACHb 367 mitochondrion|nucleus carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity 0 Ovarian(185;0.0634)|all_lung(157;0.175) all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211) Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481) TCGCCTTCATCTGCAGGTACC 0.627 GBM(74;673 1226 4974 11850 13190) NA 3 29 0 0 0.004672 0 0 RSC1A1 6248 broad.mit.edu 37 1 15988127 15988127 + Missense_Mutation SNP G G T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr1:15988127G>T uc010obn.1 + 1 1764 c.1764G>T c.(1762-1764)CAG>CAT p.Q588H NM_006511 NP_006502 Q92681 RSCA1_HUMAN regulatory solute carrier protein, family 1, 588 UBA. negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport cell junction|Golgi apparatus|nucleus ion channel inhibitor activity ovary(1) 1 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TTACTTTGCAGGAAGCTCTTG 0.473 NA 26 92 3.73148e-12 4.95894e-12 0.007291 1 0 SPEN 23013 broad.mit.edu 37 1 16264106 16264106 + Missense_Mutation SNP C C A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr1:16264106C>A uc001axk.1 + 12 10679 c.10475C>A c.(10474-10476)TCC>TAC p.S3492Y SPEN_uc010obp.1_Missense_Mutation_p.S3451Y NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 3492 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) CACCTGACTTCCCAGAGACCC 0.547 NA 9 89 7.48243e-07 9.2727e-07 0.006214 1 0 MST1P9 11223 broad.mit.edu 37 1 17087593 17087593 + Silent SNP C C T rs12145944 by1000genomes TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr1:17087593C>T uc010ock.1 - 2 72 c.72G>A c.(70-72)CAG>CAA p.Q24Q CROCC_uc009voy.1_Intron|MST1P9_uc001azp.3_5'Flank NR_002729 SubName: Full=Hepatocyte growth factor-like protein homolog; 0 ATGGCGAGCGCTGCCCTGCAG 0.577 NA 3 34 0 0 0.004672 0 0 PIGV 55650 broad.mit.edu 37 1 27124066 27124066 + Missense_Mutation SNP T T C TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr1:27124066T>C uc001bmz.2 + 4 1544 c.1213T>C c.(1213-1215)TTT>CTT p.F405L PIGV_uc001bmy.2_Missense_Mutation_p.F170L|PIGV_uc009vso.2_Missense_Mutation_p.V398A|PIGV_uc010ofg.1_Missense_Mutation_p.F170L|PIGV_uc001bna.2_Missense_Mutation_p.F405L NM_017837 NP_060307 Q9NUD9 PIGV_HUMAN phosphatidylinositol glycan class V 405 Lumenal (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane glycolipid mannosyltransferase activity ovary(1) 1 all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227) TCTCACCAGGTTTTTGGGCTC 0.488 NA 9 136 0 0 0.004482 0 0 GPATCH3 63906 broad.mit.edu 37 1 27224092 27224092 + Missense_Mutation SNP T T A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr1:27224092T>A uc001bne.2 - 2 605 c.576A>T c.(574-576)AGA>AGT p.R192S GPATCH3_uc009vsp.1_Missense_Mutation_p.R3S NM_022078 NP_071361 Q96I76 GPTC3_HUMAN G patch domain containing 3 192 intracellular nucleic acid binding 0 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419) CCACATTCCCTCTGGGCATCA 0.607 NA 10 49 0 0 0.008291 0 0 MACF1 23499 broad.mit.edu 37 1 39798795 39798795 + Missense_Mutation SNP G G C TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr1:39798795G>C uc010oiu.1 + 1 1986 c.1855G>C c.(1855-1857)GAG>CAG p.E619Q MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 2184 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) ACACACTCTTGAGACTGAATA 0.348 NA 6 72 0 0 0.001168 0 0 MACF1 23499 broad.mit.edu 37 1 39799732 39799732 + Missense_Mutation SNP G G C TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr1:39799732G>C uc010oiu.1 + 1 2923 c.2792G>C c.(2791-2793)AGA>ACA p.R931T MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 2496 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CTTTTGGAGAGAGAGGAGGCC 0.403 NA 12 146 0 0 0.00245 0 0 TYW3 127253 broad.mit.edu 37 1 75199007 75199007 + Missense_Mutation SNP G G T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr1:75199007G>T uc001dgn.2 + 1 168 c.79G>T c.(79-81)GAC>TAC p.D27Y CRYZ_uc001dgk.2_5'UTR|CRYZ_uc001dgj.2_5'UTR|CRYZ_uc001dgl.2_5'UTR|CRYZ_uc001dgm.2_5'UTR|TYW3_uc010oqw.1_Missense_Mutation_p.D27Y|TYW3_uc010oqx.1_Missense_Mutation_p.D27Y|TYW3_uc010oqy.1_RNA NM_138467 NP_612476 Q6IPR3 TYW3_HUMAN tRNA-yW synthesizing protein 3 homolog isoform 27 tRNA processing methyltransferase activity ovary(2) 2 GGGCAGTGTTGACGAGGATGT 0.572 NA 7 27 0.00198382 0.00215447 0.001984 1 0 CSDE1 7812 broad.mit.edu 37 1 115266602 115266602 + Missense_Mutation SNP G G C TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr1:115266602G>C uc001efk.2 - 16 2241 c.1775C>G c.(1774-1776)GCT>GGT p.A592G CSDE1_uc001efi.2_Missense_Mutation_p.A638G|CSDE1_uc001efj.2_RNA|CSDE1_uc001efl.2_Missense_Mutation_p.A561G|CSDE1_uc001efm.2_Missense_Mutation_p.A607G|CSDE1_uc009wgv.2_Missense_Mutation_p.A592G|CSDE1_uc001efn.2_Missense_Mutation_p.A561G NM_001007553 NP_001007554 O75534 CSDE1_HUMAN upstream of NRAS isoform 1 592 male gonad development|regulation of transcription, DNA-dependent cytoplasm DNA binding|protein binding|RNA binding ovary(1) 1 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GGTGGGATCAGCTTCCTCAGT 0.403 NA 8 120 0 0 0.004482 0 0 ATP1A2 477 broad.mit.edu 37 1 160093741 160093741 + Silent SNP G G C TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr1:160093741G>C uc001fvc.2 + 5 522 c.390G>C c.(388-390)CTG>CTC p.L130L ATP1A2_uc001fvb.2_Silent_p.L130L|ATP1A2_uc010piz.1_5'UTR NM_000702 NP_000693 P50993 AT1A2_HUMAN Na+/K+ -ATPase alpha 2 subunit proprotein 130 Helical; (Potential). ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity central_nervous_system(3)|ovary(2)|skin(2) 7 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) AGCTATATCTGGGTGTGGTGC 0.542 NA 8 42 0 0 0.00308 0 0 SLAMF1 6504 broad.mit.edu 37 1 160604481 160604481 + Missense_Mutation SNP T T C TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr1:160604481T>C uc001fwl.3 - 3 968 c.622A>G c.(622-624)ATC>GTC p.I208V SLAMF1_uc010pjk.1_RNA|SLAMF1_uc010pjl.1_RNA|SLAMF1_uc010pjm.1_RNA NM_003037 NP_003028 Q13291 SLAF1_HUMAN signaling lymphocytic activation molecule family 208 Ig-like C2-type.|Extracellular (Potential).|Ig-like V-type. interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation integral to membrane antigen binding|transmembrane receptor activity ovary(1)|breast(1) 2 all_cancers(52;4.94e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) ACGGTGCAGATGTAGATATTG 0.607 NA 15 98 0 0 0.00245 0 0 FAM129A 116496 broad.mit.edu 37 1 184863276 184863276 + Missense_Mutation SNP T T G TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr1:184863276T>G uc001gra.2 - 3 445 c.251A>C c.(250-252)AAG>ACG p.K84T FAM129A_uc009wyh.1_Missense_Mutation_p.K84T|FAM129A_uc009wyi.1_Intron NM_052966 NP_443198 Q9BZQ8 NIBAN_HUMAN niban protein isoform 2 84 negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane ovary(3)|skin(1) 4 CTTCCACTTCTTTATGTCTTC 0.353 NA 3 94 0 0 0.000602 0 0 ZP4 57829 broad.mit.edu 37 1 238050095 238050095 + Missense_Mutation SNP G G A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr1:238050095G>A uc001hym.2 - 6 815 c.815C>T c.(814-816)TCT>TTT p.S272F LOC100130331_uc010pyc.1_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 preproprotein 272 ZP.|Extracellular (Potential). acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity ovary(2)|skin(1) 3 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) ACGAGTGACAGAGCCACGGCT 0.483 NSCLC(166;160 2029 11600 18754 19936) NA 8 102 0 0 0.00308 0 0 NLRP3 114548 broad.mit.edu 37 1 247597434 247597434 + Missense_Mutation SNP G G C TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr1:247597434G>C uc001icr.2 + 7 2495 c.2357G>C c.(2356-2358)TGC>TCC p.C786S NLRP3_uc001ics.2_Missense_Mutation_p.C786S|NLRP3_uc001icu.2_Missense_Mutation_p.C786S|NLRP3_uc001icw.2_Missense_Mutation_p.C729S|NLRP3_uc001icv.2_Missense_Mutation_p.C729S|NLRP3_uc010pyw.1_Intron NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 786 LRR 2. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) TCGCATGAGTGCTGCTTCGAC 0.557 NA 19 104 0 0 0.014323 0 0 PCDH15 65217 broad.mit.edu 37 10 55826528 55826528 + Missense_Mutation SNP C C T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr10:55826528C>T uc001jju.1 - 18 2604 c.2209G>A c.(2209-2211)GGT>AGT p.G737S PCDH15_uc010qhq.1_Missense_Mutation_p.G742S|PCDH15_uc010qhr.1_Missense_Mutation_p.G737S|PCDH15_uc010qhs.1_Missense_Mutation_p.G749S|PCDH15_uc010qht.1_Missense_Mutation_p.G744S|PCDH15_uc010qhu.1_Missense_Mutation_p.G737S|PCDH15_uc001jjv.1_Missense_Mutation_p.G715S|PCDH15_uc010qhv.1_Missense_Mutation_p.G737S|PCDH15_uc010qhw.1_Missense_Mutation_p.G700S|PCDH15_uc010qhx.1_Missense_Mutation_p.G666S|PCDH15_uc010qhy.1_Missense_Mutation_p.G742S|PCDH15_uc010qhz.1_Missense_Mutation_p.G737S|PCDH15_uc010qia.1_Missense_Mutation_p.G715S|PCDH15_uc010qib.1_Missense_Mutation_p.G715S|PCDH15_uc001jjw.2_Missense_Mutation_p.G737S NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 737 Extracellular (Potential).|Cadherin 7. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) TTTACTTGACCCACAAAGGCA 0.328 NA HNSCC(58;0.16) 3 61 0 0 0.004672 0 0 HPS1 3257 broad.mit.edu 37 10 100177472 100177472 + Missense_Mutation SNP C C T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr10:100177472C>T uc010qpf.1 - 20 2198 c.1952G>A c.(1951-1953)CGC>CAC p.R651H PYROXD2_uc001kpc.2_5'Flank|PYROXD2_uc001kpd.2_5'Flank|PYROXD2_uc010qpe.1_5'Flank|HPS1_uc001kpi.1_Missense_Mutation_p.R652H|HPS1_uc001kpj.1_Silent_p.A560A|HPS1_uc001kpk.1_Missense_Mutation_p.R476H NM_000195 NP_000186 Q92902 HPS1_HUMAN Hermansky-Pudlak syndrome 1 protein isoform a 651 lysosome organization|response to stimulus|visual perception cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction protein dimerization activity skin(1) 1 Colorectal(252;0.234) Epithelial(162;3.87e-12)|all cancers(201;5.63e-10) GCTGTAGTAGCGCAGGAGCTT 0.637 NA Hermansky-Pudlak_syndrome 3 31 0 0 0.004672 0 0 CHST15 51363 broad.mit.edu 37 10 125769718 125769718 + Missense_Mutation SNP C C A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr10:125769718C>A uc001lhl.2 - 7 2146 c.1633G>T c.(1633-1635)GCT>TCT p.A545S CHST15_uc001lhm.2_Missense_Mutation_p.A545S|CHST15_uc001lhn.2_Missense_Mutation_p.A545S NM_015892 NP_056976 Q7LFX5 CHSTF_HUMAN B cell RAG associated protein 545 Lumenal (Potential). hexose biosynthetic process Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity ovary(1) 1 GCCAGCCTAGCGTTGAAGGGC 0.622 NA 10 35 0.000673444 0.000747449 0.008291 1 0 MGMT 4255 broad.mit.edu 37 10 131557476 131557476 + Silent SNP C C A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr10:131557476C>A uc001lkh.2 + 4 404 c.378C>A c.(376-378)ACC>ACA p.T126T NM_002412 NP_002403 P16455 MGMT_HUMAN O-6-methylguanine-DNA methyltransferase 95 ovary(1)|breast(1) 2 all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167) OV - Ovarian serous cystadenocarcinoma(35;0.00291) AGTCGTTCACCAGACAGGTGT 0.478 NA Direct_reversal_of_damage 10 129 0.000151284 0.000173633 0.001855 1 0 WEE1 7465 broad.mit.edu 37 11 9597496 9597496 + Missense_Mutation SNP T T G TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr11:9597496T>G uc001mhs.2 + 2 891 c.638T>G c.(637-639)CTC>CGC p.L213R WEE1_uc001mht.2_5'UTR|WEE1_uc001mhu.2_5'UTR NM_003390 NP_003381 P30291 WEE1_HUMAN WEE1 tyrosine kinase isoform 1 213 blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle nucleoplasm ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity central_nervous_system(2)|ovary(1)|breast(1)|skin(1) 5 all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484) GGTAGTTCTCTCTTCATGGAT 0.388 NA 21 69 0 0 0.010504 0 0 NAV2 89797 broad.mit.edu 37 11 20067055 20067055 + Missense_Mutation SNP C C G TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr11:20067055C>G uc010rdm.1 + 15 4171 c.3810C>G c.(3808-3810)AAC>AAG p.N1270K NAV2_uc001mpp.2_Missense_Mutation_p.N1183K|NAV2_uc001mpr.3_Missense_Mutation_p.N1247K|NAV2_uc001mpt.2_Missense_Mutation_p.N333K|NAV2_uc009yhx.2_Missense_Mutation_p.N333K|NAV2_uc009yhy.1_Missense_Mutation_p.N246K NM_145117 NP_660093 Q8IVL1 NAV2_HUMAN neuron navigator 2 isoform 2 1270 nucleus ATP binding|helicase activity skin(4)|ovary(1)|pancreas(1) 6 GTCTGGTCAACCAAACAGACA 0.547 NA 5 42 0 0 0.000602 0 0 C11orf41 25758 broad.mit.edu 37 11 33689585 33689585 + Missense_Mutation SNP A A C TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr11:33689585A>C uc001mup.3 + 20 5577 c.5453A>C c.(5452-5454)GAC>GCC p.D1818A NM_012194 NP_036326 Q6ZVL6 CK041_HUMAN hypothetical protein LOC25758 1812 integral to membrane ovary(2) 2 GCAGAAAACGACCCGTCTGAC 0.637 NA 5 23 0 0 0.000602 0 0 OR5L2 26338 broad.mit.edu 37 11 55594985 55594985 + Silent SNP C C T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr11:55594985C>T uc001nhy.1 + 1 291 c.291C>T c.(289-291)TGC>TGT p.C97C NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, 97 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_epithelial(135;0.208) TCCTAGGGTGCATGGTGCAAT 0.478 NA HNSCC(27;0.073) 23 161 0 0 0.012319 0 0 MS4A6A 64231 broad.mit.edu 37 11 59949120 59949120 + Silent SNP G G A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr11:59949120G>A uc001nor.2 - 2 319 c.81C>T c.(79-81)CCC>CCT p.P27P MS4A6A_uc001noq.2_Silent_p.P27P|MS4A6A_uc001nos.3_Silent_p.P55P|MS4A6A_uc009ymv.2_Silent_p.P27P|MS4A6A_uc001not.2_Silent_p.P27P|MS4A6A_uc010rla.1_Silent_p.P55P|MS4A6A_uc010rlb.1_Silent_p.P27P NM_152852 NP_690591 Q9H2W1 M4A6A_HUMAN membrane-spanning 4-domains, subfamily A, member 27 Cytoplasmic (Potential). integral to membrane receptor activity 0 TGGTGGGTTCGGGTTTCTCTG 0.458 NA 36 135 0 0 0.004878 0 0 NCAM1 4684 broad.mit.edu 37 11 113140955 113140955 + Missense_Mutation SNP G G T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr11:113140955G>T uc001pns.2 + 3 349 c.317G>T c.(316-318)GGC>GTC p.G106V uc010rwu.1_3'UTR|NCAM1_uc001pnt.2_5'Flank P13591 NCAM1_HUMAN SubName: Full=cDNA FLJ52974, highly similar to Neural cell adhesion molecule 1, 140 kDa isoform; 726 Helical; (Potential). axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane ovary(1) 1 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) GCCATCGTGGGCATCCTCATC 0.582 NA 36 211 4.67007e-22 6.41737e-22 0.00874 1 0 BACE1 23621 broad.mit.edu 37 11 117160510 117160510 + Missense_Mutation SNP G G T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr11:117160510G>T uc001pqz.2 - 9 1739 c.1278C>A c.(1276-1278)TTC>TTA p.F426L BACE1_uc001pqw.2_Missense_Mutation_p.F401L|BACE1_uc001pqx.2_Missense_Mutation_p.F357L|BACE1_uc001pqy.2_Missense_Mutation_p.F382L|BACE1_uc010rxg.1_Missense_Mutation_p.F301L|BACE1_uc010rxh.1_Missense_Mutation_p.F326L|uc010rxi.1_5'Flank NM_012104 NP_036236 P56817 BACE1_HUMAN beta-site APP-cleaving enzyme 1 isoform A 426 Extracellular (Potential). beta-amyloid metabolic process|membrane protein ectodomain proteolysis cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding ovary(1) 1 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032) CTGCCGTCCTGAACTcatcgt 0.274 NA 11 53 0.000673444 0.000747449 0.008291 1 0 GRIK4 2900 broad.mit.edu 37 11 120776031 120776031 + Missense_Mutation SNP C C A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr11:120776031C>A uc001pxn.2 + 13 1592 c.1305C>A c.(1303-1305)CAC>CAA p.H435Q GRIK4_uc009zav.1_Missense_Mutation_p.H435Q|GRIK4_uc009zaw.1_Missense_Mutation_p.H435Q|GRIK4_uc009zax.1_Missense_Mutation_p.H435Q NM_014619 NP_055434 Q16099 GRIK4_HUMAN glutamate receptor KA1 precursor 435 Extracellular (Potential). glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|central_nervous_system(1) 3 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) AGGGGAACCACCAGGAGATGG 0.542 NA 12 225 1.05317e-09 1.36372e-09 0.00245 1 0 LRTM2 654429 broad.mit.edu 37 12 1940363 1940363 + Silent SNP C C A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr12:1940363C>A uc001qjt.2 + 4 1136 c.330C>A c.(328-330)TCC>TCA p.S110S CACNA2D4_uc001qjp.2_Intron|CACNA2D4_uc009zds.1_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.1_Intron|LRTM2_uc001qju.2_Silent_p.S110S|LRTM2_uc010sdx.1_Silent_p.S110S|LRTM2_uc001qjv.2_Intron NM_001039029 NP_001034118 Q8N967 LRTM2_HUMAN leucine-rich repeats and transmembrane domains 2 110 LRR 2.|Extracellular (Potential). integral to membrane large_intestine(1) 1 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000834) TGCCCCGCTCCATTTTCGGGG 0.617 NA 6 76 5.18039e-06 6.30385e-06 0.00308 1 0 C1S 716 broad.mit.edu 37 12 7177423 7177423 + Missense_Mutation SNP C C T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr12:7177423C>T uc001qsj.2 + 15 2254 c.1535C>T c.(1534-1536)CCG>CTG p.P512L C1S_uc001qsk.2_Missense_Mutation_p.P512L|C1S_uc001qsl.2_Missense_Mutation_p.P512L|C1S_uc009zfr.2_Missense_Mutation_p.P345L|C1S_uc009zfs.2_RNA NM_201442 NP_958850 P09871 C1S_HUMAN complement component 1, s subcomponent 512 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity skin(1) 1 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) TTTATTCATCCGGGATGGAAG 0.512 GBM(156;750 1943 12971 24779 31015) NA 3 28 0 0 0.004672 0 0 C3AR1 719 broad.mit.edu 37 12 8211488 8211488 + Missense_Mutation SNP G G C TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr12:8211488G>C uc001qtv.1 - 2 1386 c.1294C>G c.(1294-1296)CCC>GCC p.P432A NM_004054 NP_004045 Q16581 C3AR_HUMAN complement component 3a receptor 1 432 Helical; Name=7; (Potential). blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response integral to plasma membrane C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity ovary(1) 1 Kidney(36;0.0893) TAAAGGAAGGGATTAAAGCAA 0.478 NA 8 109 0 0 0.00308 0 0 DDX12 440081 broad.mit.edu 37 12 9574030 9574030 + Missense_Mutation SNP T T G TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr12:9574030T>G uc010sgs.1 - 20 2201 c.2006A>C c.(2005-2007)AAC>ACC p.N669T DDX12_uc001qvx.3_5'Flank|DDX12_uc001qvy.1_5'Flank NM_004400 NP_004391 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12 0 TAGCGGCTGGTTGGAGACCCC 0.597 NA 8 89 0 0 0.00333 0 0 GRIN2B 2904 broad.mit.edu 37 12 13717037 13717037 + Missense_Mutation SNP C C G TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr12:13717037C>G uc001rbt.2 - 13 3314 c.3135G>C c.(3133-3135)AAG>AAC p.K1045N NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 1045 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AGCGGTCGCTCTTGAAGGAGA 0.592 NA 5 60 0 0 0.000602 0 0 KIAA0528 9847 broad.mit.edu 37 12 22688245 22688245 + Missense_Mutation SNP C C A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr12:22688245C>A uc001rfq.2 - 3 352 c.124G>T c.(124-126)GTG>TTG p.V42L KIAA0528_uc010sir.1_5'UTR|KIAA0528_uc010sis.1_Missense_Mutation_p.V42L|KIAA0528_uc010sit.1_Missense_Mutation_p.V42L|KIAA0528_uc010siu.1_Missense_Mutation_p.V42L|KIAA0528_uc001rfr.2_Missense_Mutation_p.V42L|KIAA0528_uc009ziy.1_Missense_Mutation_p.V42L NM_014802 NP_055617 Q86YS7 K0528_HUMAN hypothetical protein LOC9847 42 C2. protein binding ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1) 4 TTAAGGTACACATCTGTTTTA 0.284 NA 4 30 0.00116845 0.00128976 0.001168 1 0 ARHGAP9 64333 broad.mit.edu 37 12 57872486 57872486 + Missense_Mutation SNP C C A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr12:57872486C>A uc001sod.2 - 6 777 c.584G>T c.(583-585)AGG>ATG p.R195M ARHGAP9_uc001snz.2_5'Flank|ARHGAP9_uc001soa.2_5'Flank|ARHGAP9_uc001sob.2_Missense_Mutation_p.R124M|ARHGAP9_uc001soc.2_Missense_Mutation_p.R124M|ARHGAP9_uc001soe.1_Missense_Mutation_p.R203M|ARHGAP9_uc010sro.1_Missense_Mutation_p.R124M NM_032496 NP_115885 Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 isoform 1 124 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding lung(1) 1 GBM - Glioblastoma multiforme(3;3.37e-34) AGCCTGAGCCCTGCTTGGGAG 0.582 NA 22 112 1.22574e-08 1.57706e-08 0.014323 1 0 MARS 4141 broad.mit.edu 37 12 57910304 57910304 + Silent SNP A A G TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr12:57910304A>G uc001sog.2 + 21 2666 c.2643A>G c.(2641-2643)AAA>AAG p.K881K MARS_uc001sof.1_RNA|MARS_uc001soh.1_3'UTR NM_004990 NP_004981 P56192 SYMC_HUMAN methionyl-tRNA synthetase 881 WHEP-TRS. methionyl-tRNA aminoacylation cytosol ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding ovary(3)|central_nervous_system(1)|pancreas(1) 5 GBM - Glioblastoma multiforme(3;4.27e-41) L-Methionine(DB00134) ATCTAAAGAAACAGTTGGCTG 0.458 NA 5 42 0 0 0.000602 0 0 SLC16A7 9194 broad.mit.edu 37 12 60168856 60168856 + Silent SNP T T C TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr12:60168856T>C uc001sqs.2 + 5 1079 c.780T>C c.(778-780)GGT>GGC p.G260G SLC16A7_uc001sqt.2_Silent_p.G260G|SLC16A7_uc001squ.2_Silent_p.G260G|SLC16A7_uc009zqi.2_Silent_p.G161G|SLC16A7_uc010ssi.1_Silent_p.G161G NM_004731 NP_004722 O60669 MOT2_HUMAN solute carrier family 16, member 7 260 Helical; (Potential). integral to plasma membrane|membrane fraction pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity ovary(1) 1 GBM - Glioblastoma multiforme(3;0.0303) Pyruvic acid(DB00119) TGTTCCTAGGTTTTTTTGCCC 0.353 NA 6 300 0 0 0.001984 0 0 IFNG 3458 broad.mit.edu 37 12 68549203 68549203 + Missense_Mutation SNP G G A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr12:68549203G>A uc001stw.1 - 4 557 c.431C>T c.(430-432)TCG>TTG p.S144L NM_000619 NP_000610 P01579 IFNG_HUMAN interferon, gamma precursor 144 cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus extracellular space cytokine activity|interferon-gamma receptor binding 0 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000829) Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641) AGCTGCTGGCGACAGTTCAGC 0.428 NA 156 24 0 0 0.01441 0 0 NUP107 57122 broad.mit.edu 37 12 69115726 69115726 + Missense_Mutation SNP G G A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr12:69115726G>A uc001suf.2 + 16 1532 c.1417G>A c.(1417-1419)GAT>AAT p.D473N NUP107_uc001sug.2_Missense_Mutation_p.D320N|NUP107_uc010stj.1_Missense_Mutation_p.D444N NM_020401 NP_065134 P57740 NU107_HUMAN nucleoporin 107kDa 473 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding skin(1) 1 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) AGCAACTCTGGATGAAACTGA 0.463 NA 8 299 0 0 0.00308 0 0 FRS2 10818 broad.mit.edu 37 12 69965138 69965138 + Silent SNP G G A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr12:69965138G>A uc001suy.2 + 8 846 c.336G>A c.(334-336)GTG>GTA p.V112V FRS2_uc001suz.2_Silent_p.V112V|FRS2_uc009zrj.2_Silent_p.V112V|FRS2_uc009zrk.2_Silent_p.V112V NM_006654 NP_006645 Q8WU20 FRS2_HUMAN fibroblast growth factor receptor substrate 2 112 IRS-type PTB. activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway endomembrane system|endosome|integral to plasma membrane|membrane fraction fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity prostate(1)|kidney(1) 2 Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) GTATAAATGTGGTGGAAGAGC 0.368 NA OREG0021986 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 426 0 0 0.004007 0 0 TPCN1 53373 broad.mit.edu 37 12 113704105 113704105 + Missense_Mutation SNP C C A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr12:113704105C>A uc001tuw.2 + 4 655 c.358C>A c.(358-360)CTG>ATG p.L120M TPCN1_uc001tux.2_Missense_Mutation_p.L192M|TPCN1_uc010syt.1_Missense_Mutation_p.L52M NM_017901 NP_060371 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 isoform 2 120 Helical; Name=S1 of repeat I; (Potential). endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity skin(2)|ovary(1) 3 CCTGCTGCTGCTGCTGCTCTC 0.652 NA 60 326 6.26901e-30 8.79403e-30 0.01441 1 0 DNAH10 196385 broad.mit.edu 37 12 124311323 124311323 + Silent SNP C C G TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr12:124311323C>G uc001uft.3 + 24 3940 c.3915C>G c.(3913-3915)CTC>CTG p.L1305L NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1305 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TCAGGGCTCTCAGAAAGCTAC 0.453 NA 3 112 0 0 0.004672 0 0 ATP11A 23250 broad.mit.edu 37 13 113474218 113474218 + Missense_Mutation SNP G G A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr13:113474218G>A uc001vsi.3 + 8 767 c.679G>A c.(679-681)GTG>ATG p.V227M ATP11A_uc001vsj.3_Missense_Mutation_p.V227M|ATP11A_uc001vsm.1_Missense_Mutation_p.V103M NM_015205 NP_056020 P98196 AT11A_HUMAN ATPase, class VI, type 11A isoform a 227 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity large_intestine(2)|ovary(2) 4 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) CGCCAGGTTCGTGGGTCGCAT 0.627 NA 3 38 0 0 0.009096 0 0 PTGR2 145482 broad.mit.edu 37 14 74345977 74345977 + Missense_Mutation SNP G G T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr14:74345977G>T uc001xow.2 + 6 858 c.698G>T c.(697-699)GGT>GTT p.G233V PTGR2_uc010tue.1_Missense_Mutation_p.G233V|PTGR2_uc001xox.2_Missense_Mutation_p.G233V|ZNF410_uc001xoy.1_Intron NM_001146154 NP_001139626 Q8N8N7 PTGR2_HUMAN prostaglandin reductase 2 233 prostaglandin metabolic process 15-oxoprostaglandin 13-oxidase activity|zinc ion binding 0 GACAATGTTGGTGGTAACATC 0.358 Esophageal Squamous(98;1155 1417 16452 47043 47872) NA 20 140 2.32416e-17 3.17216e-17 0.014323 1 0 SEMA6D 80031 broad.mit.edu 37 15 48063639 48063639 + Missense_Mutation SNP G G T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr15:48063639G>T uc010bek.2 + 19 3239 c.2879G>T c.(2878-2880)AGA>ATA p.R960I SEMA6D_uc001zvw.2_Missense_Mutation_p.R898I|SEMA6D_uc001zvy.2_Missense_Mutation_p.R960I|SEMA6D_uc001zvz.2_Missense_Mutation_p.R904I|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Missense_Mutation_p.R898I|SEMA6D_uc001zwc.2_Missense_Mutation_p.R885I NM_153618 NP_705871 Q8NFY4 SEM6D_HUMAN semaphorin 6D isoform 4 precursor 960 Cytoplasmic (Potential). axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity skin(3)|breast(1) 4 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) TCTCTGGAAAGACAAAGAGGT 0.468 NA 14 89 4.3838e-07 5.46622e-07 0.001855 1 0 CGNL1 84952 broad.mit.edu 37 15 57730535 57730535 + Missense_Mutation SNP C C A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr15:57730535C>A uc002aeg.2 + 2 414 c.338C>A c.(337-339)CCA>CAA p.P113Q CGNL1_uc010bfw.2_Missense_Mutation_p.P113Q NM_032866 NP_116255 Q0VF96 CGNL1_HUMAN cingulin-like 1 113 Head. myosin complex|tight junction motor activity skin(6)|ovary(4)|central_nervous_system(1) 11 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) CAGCCTAGCCCAATAAGAAAC 0.488 NA 5 52 3.59834e-05 4.25067e-05 0.001168 1 0 ACAN 176 broad.mit.edu 37 15 89382197 89382197 + Missense_Mutation SNP C C T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr15:89382197C>T uc010upo.1 + 3 748 c.374C>T c.(373-375)TCC>TTC p.S125F ACAN_uc002bmx.2_Missense_Mutation_p.S125F|ACAN_uc010upp.1_Missense_Mutation_p.S125F|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 125 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) AGCCTGCGCTCCAATGACTCT 0.627 NA 5 123 0 0 0.001168 0 0 WDR90 197335 broad.mit.edu 37 16 716508 716508 + Missense_Mutation SNP C C G TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr16:716508C>G uc002cii.1 + 38 4848 c.4794C>G c.(4792-4794)GAC>GAG p.D1598E WDR90_uc002cij.1_Intron|WDR90_uc002cil.1_RNA|WDR90_uc002cin.1_Missense_Mutation_p.D213E|WDR90_uc010uul.1_Intron|WDR90_uc002cio.1_Missense_Mutation_p.D197E|WDR90_uc010bqx.1_Intron|RHOT2_uc010uum.1_5'Flank|RHOT2_uc002cip.2_5'Flank|RHOT2_uc002ciq.2_5'Flank NM_145294 NP_660337 Q96KV7 WDR90_HUMAN WD repeat domain 90 1598 WD 20. ovary(1) 1 Hepatocellular(780;0.0218) CCAGTGGGGACCAGCGGGTCA 0.612 NA 7 49 0 0 0.00308 0 0 PTX4 390667 broad.mit.edu 37 16 1536062 1536062 + Missense_Mutation SNP C C G TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr16:1536062C>G uc010uvf.1 - 3 1300 c.1300G>C c.(1300-1302)GTT>CTT p.V434L NM_001013658 NP_001013680 Q96A99 PTX4_HUMAN neuronal pentraxin II-like 439 Pentaxin. extracellular region metal ion binding 0 AGGTTTGCAACTTCCCCGGGA 0.622 NA 13 25 0 0 0.001855 0 0 OR1F2P 26184 broad.mit.edu 37 16 3265972 3265972 + Missense_Mutation SNP G G A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr16:3265972G>A uc010uwv.1 + 1 411 c.263G>A c.(262-264)CGC>CAC p.R88H NR_002169 RecName: Full=Olfactory receptor 1F2; AltName: Full=OLFmf2; 0 GCCTATGACCGCTTTGTCGCC 0.512 NA 16 61 0 0 0.004007 0 0 MYH11 4629 broad.mit.edu 37 16 15797975 15797975 + Missense_Mutation SNP C C T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr16:15797975C>T uc002ddy.2 - 41 5899 c.5792G>A c.(5791-5793)GGA>GAA p.G1931E MYH11_uc002ddv.2_3'UTR|MYH11_uc002ddw.2_3'UTR|MYH11_uc002ddx.2_Missense_Mutation_p.G1938E|MYH11_uc010bvg.2_3'UTR|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron NM_002474 NP_002465 P35749 MYH11_HUMAN smooth muscle myosin heavy chain 11 isoform 1931 Potential. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1) 15 GGTCTCGTTTCCTCGCCTGTG 0.403 NA T CBFB AML 21 151 0 0 0.010504 0 0 GTF3C1 2975 broad.mit.edu 37 16 27483125 27483125 + Silent SNP C C T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr16:27483125C>T uc002dov.1 - 30 4510 c.4470G>A c.(4468-4470)AAG>AAA p.K1490K GTF3C1_uc002dou.2_Silent_p.K1490K NM_001520 NP_001511 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1490 transcription factor TFIIIC complex DNA binding|protein binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 GGGCCCGGTTCTTCTTGGGGC 0.602 NA 4 107 0 0 0.001168 0 0 C16orf53 79447 broad.mit.edu 37 16 29830979 29830979 + Silent SNP G G A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr16:29830979G>A uc002dug.3 + 3 988 c.669G>A c.(667-669)AGG>AGA p.R223R uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|uc002duh.1_Intron|MVP_uc010bzh.1_5'Flank|MVP_uc010vdz.1_5'Flank|MVP_uc002dui.2_5'Flank|MVP_uc002duj.2_5'Flank NM_024516 NP_078792 Q9BTK6 PA1_HUMAN PTIP-associated 1 protein 223 0 GTACCGGGAGGGACCTCTTCA 0.637 NA 29 161 0 0 0.00632 0 0 GPT2 84706 broad.mit.edu 37 16 46943706 46943706 + Silent SNP C C T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr16:46943706C>T uc002eel.2 + 6 781 c.687C>T c.(685-687)ATC>ATT p.I229I GPT2_uc002eem.2_Silent_p.I129I NM_133443 NP_597700 Q8TD30 ALAT2_HUMAN glutamic pyruvate transaminase 2 isoform 1 229 2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process mitochondrial matrix L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding ovary(1)|skin(1) 2 all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522) L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) TCGACGCCATCCAGGTGAATT 0.577 NA 9 91 0 0 0.006214 0 0 IRX3 79191 broad.mit.edu 37 16 54319192 54319192 + Missense_Mutation SNP C C T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr16:54319192C>T uc002eht.1 - 2 1017 c.601G>A c.(601-603)GAG>AAG p.E201K NM_024336 NP_077312 P78415 IRX3_HUMAN iroquois homeobox 3 201 Asp/Glu-rich (acidic). multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 TTTCCCTCCTCGTCAGTGCGG 0.473 GBM(143;1830 1866 4487 4646 37383) NA 7 48 0 0 0.001984 0 0 P2RX1 5023 broad.mit.edu 37 17 3802231 3802231 + Silent SNP G G A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr17:3802231G>A uc002fww.2 - 9 1404 c.963C>T c.(961-963)GGC>GGT p.G321G NM_002558 NP_002549 P51575 P2RX1_HUMAN purinergic receptor P2X1 321 Extracellular (Potential). platelet activation integral to plasma membrane calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity ovary(1)|skin(1) 2 LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173) CACTCACCTTGCCGTCCACCA 0.537 NA 21 134 0 0 0.012319 0 0 RABEP1 9135 broad.mit.edu 37 17 5241393 5241393 + Missense_Mutation SNP C C T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr17:5241393C>T uc002gbm.3 + 5 832 c.608C>T c.(607-609)ACA>ATA p.T203I RABEP1_uc010clc.1_Missense_Mutation_p.T203I|RABEP1_uc010cld.1_Missense_Mutation_p.T160I|RABEP1_uc010vsw.1_Missense_Mutation_p.T160I|RABEP1_uc002gbl.3_Missense_Mutation_p.T203I|RABEP1_uc002gbk.2_Missense_Mutation_p.T203I NM_004703 NP_004694 Q15276 RABE1_HUMAN rabaptin, RAB GTPase binding effector protein 1 203 Potential. apoptosis|cellular membrane fusion|endocytosis|protein transport centrosome|early endosome|endocytic vesicle|recycling endosome growth factor activity|GTPase activator activity|protein homodimerization activity large_intestine(1)|ovary(1) 2 GATAAACTGACAGAGGCTGAA 0.413 NA 18 108 0 0 0.008871 0 0 MYH2 4620 broad.mit.edu 37 17 10426900 10426900 + Silent SNP G G T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr17:10426900G>T uc010coi.2 - 37 5513 c.5385C>A c.(5383-5385)ACC>ACA p.T1795T uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.T1795T|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1795 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 GATCCTTCACGGTCTGCTCCA 0.567 NA 6 117 8.12818e-05 9.49071e-05 0.001984 1 0 MYH3 4621 broad.mit.edu 37 17 10535214 10535214 + Silent SNP A A G TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr17:10535214A>G uc002gmq.1 - 34 5153 c.5076T>C c.(5074-5076)ACT>ACC p.T1692T NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 1692 Potential. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|central_nervous_system(2)|pancreas(1) 7 TCTGCTCCAGAGTAGCCCGCA 0.657 NA 4 53 0 0 0.009096 0 0 SYT4 6860 broad.mit.edu 37 18 40850335 40850335 + Missense_Mutation SNP C C G TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr18:40850335C>G uc002law.2 - 4 1618 c.1249G>C c.(1249-1251)GCC>CCC p.A417P SYT4_uc010dng.2_RNA|SYT4_uc010xcm.1_Missense_Mutation_p.A399P|SYT4_uc010dnh.2_RNA NM_020783 NP_065834 Q9H2B2 SYT4_HUMAN synaptotagmin IV 417 Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane transporter activity skin(5) 5 TGCCACTTGGCAATTTGTCTC 0.468 NSCLC(85;81 1419 2855 22820 35912) NA 18 229 0 0 0.006122 0 0 SETBP1 26040 broad.mit.edu 37 18 42281721 42281721 + Missense_Mutation SNP G G T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr18:42281721G>T uc010dni.2 + 2 706 c.410G>T c.(409-411)GGG>GTG p.G137V SETBP1_uc002lay.2_Missense_Mutation_p.G137V NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 137 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) AAGCAGTCTGGGGACCAGAAG 0.463 NA Schinzel-Giedion_syndrome 4 76 1.024e-07 1.2928e-07 0.000602 1 0 SERPINB13 5275 broad.mit.edu 37 18 61262278 61262278 + Missense_Mutation SNP G G T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr18:61262278G>T uc002ljc.2 + 7 799 c.631G>T c.(631-633)GTA>TTA p.V211L SERPINB13_uc002ljd.2_Missense_Mutation_p.V75L|SERPINB13_uc010xep.1_Missense_Mutation_p.V220L|SERPINB13_uc010xeq.1_Missense_Mutation_p.V32L|SERPINB13_uc010xer.1_Missense_Mutation_p.V32L NM_012397 NP_036529 Q9UIV8 SPB13_HUMAN serine (or cysteine) proteinase inhibitor, clade 211 regulation of proteolysis|response to UV cytoplasm|extracellular region serine-type endopeptidase inhibitor activity ovary(1) 1 AAGTAAATCTGTACAGATGAT 0.383 NA 23 73 9.62636e-23 1.34105e-22 0.014323 1 0 CALR 811 broad.mit.edu 37 19 13051264 13051264 + Missense_Mutation SNP G G A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr19:13051264G>A uc002mvu.2 + 5 780 c.700G>A c.(700-702)GAG>AAG p.E234K NM_004343 NP_004334 P27797 CALR_HUMAN calreticulin precursor 234 P-domain.|4 X approximate repeats.|1-3. cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding ovary(1) 1 Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031) CTCCAAGCCTGAGGTTGGTGT 0.552 NA 3 25 0 0 0.004672 0 0 PKN1 5585 broad.mit.edu 37 19 14569090 14569090 + Missense_Mutation SNP T T A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr19:14569090T>A uc002myp.2 + 9 1490 c.1322T>A c.(1321-1323)CTG>CAG p.L441Q PKN1_uc002myq.2_Missense_Mutation_p.L447Q NM_002741 NP_002732 Q16512 PKN1_HUMAN protein kinase N1 isoform 2 441 C2. activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent endosome|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1) 8 CAGCGGGGCCTGTGTGCCCTC 0.602 NSCLC(185;2539 2965 10733 52867) NA 4 53 0 0 0.009096 0 0 C19orf46 163183 broad.mit.edu 37 19 36496333 36496333 + Missense_Mutation SNP C C A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr19:36496333C>A uc002ocq.1 - 6 963 c.874G>T c.(874-876)GAC>TAC p.D292Y C19orf46_uc002ocr.1_Missense_Mutation_p.R232I|C19orf46_uc002ocs.1_Missense_Mutation_p.D179Y|C19orf46_uc010een.1_Missense_Mutation_p.D207Y NM_001039876 NP_001034965 Q8N205 SYNE4_HUMAN hypothetical protein LOC163183 292 Cytoplasmic (Potential). establishment of epithelial cell apical/basal polarity integral to nuclear outer membrane actin binding ovary(1) 1 all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) TGAGAGGTGTCTGCTTCCTGG 0.562 NA 4 47 0.00909568 0.00967014 0.009096 1 0 MAP4K1 11184 broad.mit.edu 37 19 39090623 39090623 + Silent SNP G G C TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr19:39090623G>C uc002oix.1 - 22 1719 c.1611C>G c.(1609-1611)CTC>CTG p.L537L MAP4K1_uc002oiw.1_Silent_p.L124L|MAP4K1_uc002oiy.1_Silent_p.L537L|MAP4K1_uc010xug.1_Intron NM_007181 NP_009112 Q92918 M4K1_HUMAN mitogen-activated protein kinase kinase kinase 537 CNH. activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity skin(4)|lung(3)|ovary(1) 8 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) GGCTAGGAAAGAGCTGCAGGG 0.592 NA 4 97 0 0 0.009096 0 0 AKT2 208 broad.mit.edu 37 19 40745995 40745995 + Missense_Mutation SNP G G C TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr19:40745995G>C uc002onf.2 - 7 858 c.596C>G c.(595-597)ACC>AGC p.T199S AKT2_uc010egs.2_Missense_Mutation_p.T199S|AKT2_uc010egt.2_Missense_Mutation_p.T137S|AKT2_uc010xvj.1_Missense_Mutation_p.T137S|AKT2_uc010egu.1_Missense_Mutation_p.T137S|AKT2_uc010xvk.1_Missense_Mutation_p.T199S|AKT2_uc002one.2_Missense_Mutation_p.T95S NM_001626 NP_001617 P31751 AKT2_HUMAN AKT2 kinase 199 Protein kinase. insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity lung(2) 2 Lung(22;0.000499) CCGGCTCTCGGTGACTGTGTG 0.637 NA A ovarian|pancreatic 26 221 0 0 0.00632 0 0 PSG8 440533 broad.mit.edu 37 19 43359837 43359837 + Translation_Start_Site SNP C C T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr19:43359837C>T uc002oul.3 - 1 34 c.-65G>A c.(-67--63)CCGTG>CCATG PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG8_uc002oum.3_Translation_Start_Site|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Translation_Start_Site|PSG10_uc010eip.2_RNA|PSG1_uc002our.1_Intron|PSG1_uc010eio.1_Intron|PSG1_uc002oux.1_Intron|PSG1_uc002ouy.1_Intron NM_001130168 NP_001123640 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 isoform extracellular region 0 Prostate(69;0.00899) TTCCTGAGCACGGCTGTAGGC 0.607 NA 14 61 0 0 0.001855 0 0 NOVA2 4858 broad.mit.edu 37 19 46444058 46444058 + Missense_Mutation SNP G G A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr19:46444058G>A uc002pdv.2 - 4 590 c.542C>T c.(541-543)ACG>ATG p.T181M NM_002516 NP_002507 Q9UNW9 NOVA2_HUMAN neuro-oncological ventral antigen 2 181 KH 2. nucleus RNA binding 0 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179) GCCGCTGACCGTCACCACGCG 0.632 NA 3 31 0 0 0.004672 0 0 TRIM54 57159 broad.mit.edu 37 2 27505721 27505721 + Missense_Mutation SNP C C T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr2:27505721C>T uc002rjo.2 + 1 122 c.122C>T c.(121-123)CCC>CTC p.P41L TRIM54_uc002rjn.2_Missense_Mutation_p.P41L NM_187841 NP_912730 Q9BYV2 TRI54_HUMAN ring finger protein 30 isoform 2 41 RING-type. cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization microtubule|sarcomere signal transducer activity|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTGATCCTGCCCTGCCAACAC 0.597 NA 22 281 0 0 0.00333 0 0 LTBP1 4052 broad.mit.edu 37 2 33500152 33500152 + Missense_Mutation SNP G G T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr2:33500152G>T uc002ros.2 + 17 2867 c.2867G>T c.(2866-2868)TGC>TTC p.C956F LTBP1_uc002rot.2_Missense_Mutation_p.C630F|LTBP1_uc002rou.2_Missense_Mutation_p.C629F|LTBP1_uc002rov.2_Missense_Mutation_p.C576F|LTBP1_uc010ymz.1_Missense_Mutation_p.C629F|LTBP1_uc010yna.1_Missense_Mutation_p.C576F NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 955 EGF-like 5; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) GGTACTAACTGCATAGGTAAT 0.473 NA 4 81 1.23904e-05 1.4898e-05 0.000602 1 0 NRXN1 9378 broad.mit.edu 37 2 51255078 51255078 + Missense_Mutation SNP C C T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr2:51255078C>T uc010fbq.2 - 2 1811 c.334G>A c.(334-336)GGC>AGC p.G112S NRXN1_uc002rxe.3_Missense_Mutation_p.G112S|NRXN1_uc002rxd.1_Missense_Mutation_p.G112S NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor 175 Extracellular (Potential).|Laminin G-like. angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TGCCAGGCGCCGTCGTTAACC 0.667 NA 4 31 0 0 0.009096 0 0 ANXA4 307 broad.mit.edu 37 2 70015217 70015217 + Missense_Mutation SNP C C T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr2:70015217C>T uc002sfr.3 + 3 268 c.41C>T c.(40-42)TCA>TTA p.S14L ANXA4_uc010yqn.1_RNA|ANXA4_uc002sfs.3_Missense_Mutation_p.S14L|ANXA4_uc010yqo.1_Intron NM_001153 NP_001144 P09525 ANXA4_HUMAN annexin IV 12 anti-apoptosis|signal transduction cytoplasm calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity 0 AAAGCTGCTTCAGGATTCAAT 0.507 NA 4 50 0 0 0.000602 0 0 NAT8B 51471 broad.mit.edu 37 2 73928246 73928246 + Missense_Mutation SNP C C A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr2:73928246C>A uc002sjk.1 - 2 222 c.187G>T c.(187-189)GCC>TCC p.A63S NM_016347 NP_057431 Q9UHF3 NAT8B_HUMAN N-acetyltransferase 8B 63 N-acetyltransferase.|Helical; (Potential). gastrulation with mouth forming second integral to membrane N-acetyltransferase activity 0 AACACGAGGGCCAGAATCCAG 0.577 NA 13 60 0.000151284 0.000173633 0.001855 1 0 TGFBRAP1 9392 broad.mit.edu 37 2 105924096 105924096 + Silent SNP G G A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr2:105924096G>A uc002tcq.2 - 2 747 c.663C>T c.(661-663)TTC>TTT p.F221F TGFBRAP1_uc002tcr.3_Silent_p.F221F NM_004257 NP_004248 Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor 221 CNH. regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|skin(1) 2 CCGCCAGCAGGAACTCCTGTC 0.582 Esophageal Squamous(183;794 2019 9730 21801 48859) NA 10 175 0 0 0.00499 0 0 ANAPC1 64682 broad.mit.edu 37 2 112608394 112608394 + Missense_Mutation SNP T T C TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr2:112608394T>C uc002thi.2 - 14 1856 c.1609A>G c.(1609-1611)ACT>GCT p.T537A NM_022662 NP_073153 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 537 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm skin(2) 2 GGCTTTGGAGTACTAACGCCA 0.433 NA 3 121 0 0 0.004672 0 0 KCNJ3 3760 broad.mit.edu 37 2 155711659 155711659 + Nonsense_Mutation SNP C C G TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr2:155711659C>G uc002tyv.1 + 3 1535 c.1340C>G c.(1339-1341)TCA>TGA p.S447* KCNJ3_uc010zce.1_3'UTR NM_002239 NP_002230 P48549 IRK3_HUMAN potassium inwardly-rectifying channel J3 447 Cytoplasmic (By similarity). synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding upper_aerodigestive_tract(1)|pancreas(1) 2 Halothane(DB01159) CCGGGCAACTCAGAAGAAAAA 0.433 NA 4 55 0 0 0.009096 0 0 NOSTRIN 115677 broad.mit.edu 37 2 169717326 169717326 + Missense_Mutation SNP A A G TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr2:169717326A>G uc002ueg.2 + 14 1205 c.1201A>G c.(1201-1203)AAA>GAA p.K401E NOSTRIN_uc002uef.2_Missense_Mutation_p.K458E|NOSTRIN_uc002uei.2_Missense_Mutation_p.K284E|NOSTRIN_uc010fpu.2_Missense_Mutation_p.K373E|NOSTRIN_uc002ueh.2_Missense_Mutation_p.K323E|NOSTRIN_uc002uej.2_Missense_Mutation_p.K284E|NOSTRIN_uc002uek.2_Missense_Mutation_p.K85E NM_001039724 NP_001034813 Q8IVI9 NOSTN_HUMAN nitric oxide synthase trafficker isoform 2 401 endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane protein binding 0 TAGCTATGTGAAAATATCTCG 0.363 NA 7 81 0 0 0.00308 0 0 ANKRD44 91526 broad.mit.edu 37 2 198051747 198051747 + Silent SNP C C A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr2:198051747C>A uc002uuc.2 - 2 278 c.111G>T c.(109-111)CTG>CTT p.L37L ANKRD44_uc002uua.1_Silent_p.L12L|ANKRD44_uc002uub.2_Silent_p.L37L|ANKRD44_uc010zgw.1_5'UTR|ANKRD44_uc002uud.1_Silent_p.L37L NM_153697 NP_710181 Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 37 protein binding ovary(4)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(117;0.246) TATCTCTTACCAGAGTATTCA 0.363 NA 13 200 3.27435e-08 4.1862e-08 0.00245 1 0 SGOL2 151246 broad.mit.edu 37 2 201407368 201407368 + Missense_Mutation SNP A A G TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr2:201407368A>G uc002uvw.2 + 5 567 c.454A>G c.(454-456)ATG>GTG p.M152V SGOL2_uc002uvv.3_Missense_Mutation_p.M152V|SGOL2_uc010zhd.1_Missense_Mutation_p.M152V|SGOL2_uc010zhe.1_Missense_Mutation_p.M152V NM_152524 NP_689737 Q562F6 SGOL2_HUMAN shugoshin-like 2 isoform 1 152 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding ovary(2)|skin(2) 4 GTGCAAGTTGATGCGTCTTCC 0.318 NA 11 65 0 0 0.013537 0 0 SPEG 10290 broad.mit.edu 37 2 220337808 220337808 + Silent SNP G G A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr2:220337808G>A uc010fwg.2 + 16 4137 c.4137G>A c.(4135-4137)CTG>CTA p.L1379L NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 1379 muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CTGTGCAGCTGCTGGAGCACG 0.662 NA 9 24 0 0 0.006214 0 0 ANKRD5 63926 broad.mit.edu 37 20 10030301 10030301 + Missense_Mutation SNP G G T rs142831233 TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr20:10030301G>T uc002wno.2 + 7 1477 c.1084G>T c.(1084-1086)GTG>TTG p.V362L uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Missense_Mutation_p.V362L|ANKRD5_uc010gbz.2_Missense_Mutation_p.V173L NM_022096 NP_071379 Q9NU02 ANKR5_HUMAN ankyrin repeat domain protein 5 362 EF-hand. calcium ion binding ovary(1)|breast(1) 2 CTTCGTGATGGTGTTGGAGGA 0.512 NA 5 61 3.59834e-05 4.25067e-05 0.001168 1 0 BPIL3 128859 broad.mit.edu 37 20 31624311 31624311 + Missense_Mutation SNP C C G TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr20:31624311C>G uc010zuc.1 + 7 638 c.638C>G c.(637-639)ACC>AGC p.T213S BPIL3_uc010zud.1_Missense_Mutation_p.T152S NM_174897 NP_777557 Q8NFQ5 BPIL3_HUMAN bactericidal/permeability-increasing 213 extracellular region lipid binding ovary(1)|pancreas(1) 2 GCACCAGCCACCACAGCCAGC 0.577 NA 11 139 0 0 0.010729 0 0 KIAA1755 85449 broad.mit.edu 37 20 36856552 36856552 + Silent SNP G G A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr20:36856552G>A uc002xhy.1 - 6 2234 c.1962C>T c.(1960-1962)ACC>ACT p.T654T KIAA1755_uc002xhz.1_Silent_p.T654T NM_001029864 NP_001025035 Q5JYT7 K1755_HUMAN hypothetical protein LOC85449 654 ovary(4)|pancreas(1) 5 Myeloproliferative disorder(115;0.00874) CACTCACCTGGGTGGCCTGCA 0.642 NA 9 41 0 0 0.004482 0 0 BPI 671 broad.mit.edu 37 20 36948635 36948635 + Missense_Mutation SNP C C A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr20:36948635C>A uc002xib.2 + 7 789 c.727C>A c.(727-729)CCT>ACT p.P243T NM_001725 NP_001716 P17213 BPI_HUMAN bactericidal/permeability-increasing protein 243 Cleavage sites for elastase (Potential). defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production extracellular region|integral to plasma membrane lipid binding|lipopolysaccharide binding ovary(4) 4 Myeloproliferative disorder(115;0.00878) TCTGGTGGCACCTCCAGCAAC 0.517 NA 6 40 0.000157383 0.000178604 0.00308 1 0 FAM83D 81610 broad.mit.edu 37 20 37570740 37570740 + Missense_Mutation SNP G G T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr20:37570740G>T uc002xjg.2 + 2 753 c.712G>T c.(712-714)GAT>TAT p.D238Y FAM83D_uc002xjf.2_Missense_Mutation_p.D238Y NM_030919 NP_112181 Q9H4H8 FA83D_HUMAN hypothetical protein LOC81610 208 cell division|mitosis cytoplasm|spindle pole ovary(3) 3 Myeloproliferative disorder(115;0.00878) TATGTGCATGGATCTGAAAGT 0.423 NA 21 131 1.10513e-12 1.47839e-12 0.014323 1 0 PABPC1L 80336 broad.mit.edu 37 20 43566779 43566779 + Missense_Mutation SNP G G C TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr20:43566779G>C uc010ggv.1 + 13 1805 c.1723G>C c.(1723-1725)GAC>CAC p.D575H PABPC1L_uc010zwq.1_RNA|PABPC1L_uc002xmv.2_RNA|PABPC1L_uc002xmw.2_Missense_Mutation_p.D129H|PABPC1L_uc002xmx.2_Missense_Mutation_p.D129H NM_001124756 NP_001118228 Q4VXU2 PAP1L_HUMAN poly(A)-binding protein, cytoplasmic 1-like 575 PABC. nucleotide binding|RNA binding ovary(1) 1 GCTGGAGATTGACAACTCAGA 0.587 NA 5 38 0 0 0.001168 0 0 STX16 8675 broad.mit.edu 37 20 57242593 57242593 + Silent SNP A A G TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr20:57242593A>G uc002xzi.2 + 3 927 c.192A>G c.(190-192)CCA>CCG p.P64P STX16_uc010zzq.1_5'UTR|STX16_uc002xzk.2_Silent_p.P47P|STX16_uc002xzm.2_Silent_p.P60P|STX16_uc002xzj.2_Silent_p.P43P|STX16_uc002xzl.2_5'UTR NM_001001433 NP_001001433 O14662 STX16_HUMAN syntaxin 16 isoform a 64 Cytoplasmic (Potential). intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi Golgi membrane|integral to membrane|microsome|SNARE complex SNAP receptor activity ovary(1) 1 all_lung(29;0.0175) BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05) GCTTAGATCCAGAAGCAGCGA 0.413 NA 7 74 0 0 0.004482 0 0 TPTE 7179 broad.mit.edu 37 21 10934993 10934993 + Missense_Mutation SNP A A T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr21:10934993A>T uc002yip.1 - 15 1168 c.800T>A c.(799-801)GTT>GAT p.V267D TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.V249D|TPTE_uc002yir.1_Missense_Mutation_p.V229D|TPTE_uc010gkv.1_Missense_Mutation_p.V129D NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 267 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AAACCGCACAACTTCCTAAAA 0.333 NA 5 104 0 0 0.000602 0 0 ITSN1 6453 broad.mit.edu 37 21 35208915 35208915 + Missense_Mutation SNP G G C TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr21:35208915G>C uc002yta.1 + 29 3908 c.3640G>C c.(3640-3642)GAC>CAC p.D1214H DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Missense_Mutation_p.D1138H|ITSN1_uc010gmg.2_Missense_Mutation_p.D1101H|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Missense_Mutation_p.D1214H|ITSN1_uc010gmi.2_Missense_Mutation_p.D1177H|ITSN1_uc010gmj.2_Missense_Mutation_p.D1093H|ITSN1_uc002ysy.2_Missense_Mutation_p.D1209H|ITSN1_uc002ysx.2_Missense_Mutation_p.D1172H|ITSN1_uc002ytb.1_Missense_Mutation_p.D1209H|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Missense_Mutation_p.D1106H|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Missense_Mutation_p.D1209H|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Missense_Mutation_p.D1077H|ITSN1_uc002yti.1_RNA NM_003024 NP_003015 Q15811 ITSN1_HUMAN intersectin 1 isoform ITSN-l 1214 SH3 5. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity ovary(3)|skin(1) 4 GCTGACCACAGACATGGACCC 0.522 NA 9 71 0 0 0.006214 0 0 LARGE 9215 broad.mit.edu 37 22 34157357 34157357 + Splice_Site SNP C C T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr22:34157357C>T uc003and.3 - 3 685 c.106_splice c.e3+1 p.D36_splice LARGE_uc003ane.3_Splice_Site_p.D36_splice|LARGE_uc010gwp.2_Splice_Site_p.D36_splice|LARGE_uc011ame.1_Intron|LARGE_uc011amf.1_Splice_Site_p.D36_splice NM_004737 NP_004728 O95461 LARGE_HUMAN like-glycosyltransferase glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(1;0.219) TCCATTCTTACCTTCGAAGCT 0.468 Colon(70;397 1175 4573 19089 45288) NA 8 128 0 0 0.010729 0 0 TCF20 6942 broad.mit.edu 37 22 42608568 42608568 + Missense_Mutation SNP A A T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr22:42608568A>T uc003bcj.1 - 1 2878 c.2744T>A c.(2743-2745)GTG>GAG p.V915E TCF20_uc003bck.1_Missense_Mutation_p.V915E|TCF20_uc003bnt.2_Missense_Mutation_p.V915E NM_005650 NP_005641 Q9UGU0 TCF20_HUMAN transcription factor 20 isoform 1 915 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(4)|skin(1) 5 TTCCATGGACACCAAACCACC 0.463 NA 3 49 0 0 0.004672 0 0 ARPP21 10777 broad.mit.edu 37 3 35785425 35785425 + Missense_Mutation SNP G G T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr3:35785425G>T uc003cgb.2 + 18 2264 c.2000G>T c.(1999-2001)AGT>ATT p.S667I ARPP21_uc003cga.2_Missense_Mutation_p.S648I|ARPP21_uc011axy.1_Missense_Mutation_p.S668I|ARPP21_uc003cgf.2_Missense_Mutation_p.S503I|ARPP21_uc003cgg.2_Missense_Mutation_p.S190I|uc011axz.1_5'Flank|MIR128-2_hsa-mir-128-2|MI0000727_5'Flank NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN cyclic AMP-regulated phosphoprotein, 21 kD 667 Gln-rich. cytoplasm nucleic acid binding ovary(2)|skin(1) 3 GCTCAGAGGAGTCAACAGATG 0.493 NA 8 94 5.18039e-06 6.30385e-06 0.00308 1 0 TNNC1 7134 broad.mit.edu 37 3 52486123 52486123 + Silent SNP G G A rs150881554 byFrequency TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr3:52486123G>A uc003deb.2 - 3 227 c.201C>T c.(199-201)GAC>GAT p.D67D NM_003280 NP_003271 P63316 TNNC1_HUMAN troponin C, slow 67 EF-hand 2.|1. cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis cytosol|troponin complex actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding 0 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525) Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922) GGGGCTCACCGTCCTCGTCCA 0.473 NA 23 119 0 0 0.00333 0 0 DPPA2 151871 broad.mit.edu 37 3 109023457 109023457 + Missense_Mutation SNP C C T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr3:109023457C>T uc003dxo.2 - 7 966 c.719G>A c.(718-720)CGC>CAC p.R240H NM_138815 NP_620170 Q7Z7J5 DPPA2_HUMAN developmental pluripotency associated 2 240 nucleus nucleic acid binding ovary(2)|upper_aerodigestive_tract(1) 3 AAACTGCAGGCGTACCCAACC 0.502 NA 13 61 0 0 0.001855 0 0 HEG1 57493 broad.mit.edu 37 3 124738228 124738228 + Missense_Mutation SNP G G A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr3:124738228G>A uc003ehs.3 - 5 1534 c.1466C>T c.(1465-1467)TCA>TTA p.S489L HEG1_uc011bke.1_Missense_Mutation_p.S489L NM_020733 NP_065784 Q9ULI3 HEG1_HUMAN HEG homolog 1 precursor 489 Extracellular (Potential).|Ser-rich. extracellular region|integral to membrane calcium ion binding ovary(2) 2 AGTAGAGTCTGAGAACTGGGT 0.463 NA 18 176 0 0 0.006122 0 0 HEG1 57493 broad.mit.edu 37 3 124738360 124738360 + Missense_Mutation SNP G G A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr3:124738360G>A uc003ehs.3 - 5 1402 c.1334C>T c.(1333-1335)TCA>TTA p.S445L HEG1_uc011bke.1_Missense_Mutation_p.S445L NM_020733 NP_065784 Q9ULI3 HEG1_HUMAN HEG homolog 1 precursor 445 Extracellular (Potential). extracellular region|integral to membrane calcium ion binding ovary(2) 2 GGGTGCGACTGACCTAGACAC 0.493 NA 13 201 0 0 0.001855 0 0 CCRL1 51554 broad.mit.edu 37 3 132319791 132319791 + Missense_Mutation SNP T T A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr3:132319791T>A uc003eow.2 + 2 633 c.550T>A c.(550-552)TGC>AGC p.C184S ACAD11_uc003eov.3_Intron|ACAD11_uc011blr.1_Intron|CCRL1_uc003eox.2_Missense_Mutation_p.C184S NM_016557 NP_057641 Q9NPB9 CCRL1_HUMAN chemokine (C-C motif) receptor-like 1 184 Extracellular (Potential). chemotaxis|immune response integral to plasma membrane C-C chemokine receptor activity 0 CAATGCTAGGTGCATTCCCAT 0.433 Pancreas(96;1505 1524 4501 17831 18121) NA 5 12 0 0 0.001168 0 0 NLGN1 22871 broad.mit.edu 37 3 173322869 173322869 + Missense_Mutation SNP C C A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr3:173322869C>A uc003fio.1 + 3 904 c.481C>A c.(481-483)CCG>ACG p.P161T NLGN1_uc010hww.1_Missense_Mutation_p.P161T|NLGN1_uc003fip.1_Missense_Mutation_p.P161T NM_014932 NP_055747 Q8N2Q7 NLGN1_HUMAN neuroligin 1 161 Extracellular (Potential). calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1) 7 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) TATATATGTCCCGACTGAGGA 0.338 NA 4 100 0.00909568 0.00967014 0.009096 1 0 EIF4G1 1981 broad.mit.edu 37 3 184049592 184049592 + Missense_Mutation SNP T T A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr3:184049592T>A uc003fnp.2 + 31 4670 c.4472T>A c.(4471-4473)ATT>AAT p.I1491N EIF4G1_uc003fnt.2_Missense_Mutation_p.I1202N|EIF4G1_uc003fnq.2_Missense_Mutation_p.I1404N|EIF4G1_uc003fnr.2_Missense_Mutation_p.I1327N|EIF4G1_uc010hxx.2_Missense_Mutation_p.I1498N|EIF4G1_uc003fns.2_Missense_Mutation_p.I1451N|EIF4G1_uc010hxy.2_Missense_Mutation_p.I1498N|EIF4G1_uc003fnv.3_Missense_Mutation_p.I1492N|EIF4G1_uc003fnu.3_Missense_Mutation_p.I1491N|EIF4G1_uc003fnw.2_Missense_Mutation_p.I1498N|EIF4G1_uc003fnx.2_Missense_Mutation_p.I1296N|EIF4G1_uc003fny.3_Missense_Mutation_p.I1295N|EIF4G1_uc003foa.2_Missense_Mutation_p.I163N NM_198241 NP_937884 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 1491 W2.|EIF4A-binding. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TATTCTGCAATTATTTGTAAG 0.537 NA 7 80 0 0 0.001984 0 0 MSX1 4487 broad.mit.edu 37 4 4864799 4864799 + Missense_Mutation SNP G G A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr4:4864799G>A uc003gif.2 + 2 1076 c.841G>A c.(841-843)GCC>ACC p.A281T NM_002448 NP_002439 P28360 MSX1_HUMAN msh homeobox 1 275 apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization nucleus p53 binding|sequence-specific DNA binding transcription factor activity 0 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CTTCCAGCGCGCCGCGCTGCC 0.711 NA 3 31 0 0 0.004672 0 0 PDS5A 23244 broad.mit.edu 37 4 39871068 39871068 + Missense_Mutation SNP C C G TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr4:39871068C>G uc003guv.3 - 22 2991 c.2451G>C c.(2449-2451)AAG>AAC p.K817N PDS5A_uc010ifo.2_Missense_Mutation_p.K777N NM_001100399 NP_001093869 Q29RF7 PDS5A_HUMAN PDS5, regulator of cohesion maintenance, homolog 817 cell division|mitosis|negative regulation of DNA replication chromatin|nucleus identical protein binding 0 GTTTTCCATTCTTTTCACCTG 0.318 NA 14 188 0 0 0.004007 0 0 KIAA1211 57482 broad.mit.edu 37 4 57190403 57190403 + Missense_Mutation SNP A A T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr4:57190403A>T uc003hbk.2 + 10 3903 c.3512A>T c.(3511-3513)AAG>ATG p.K1171M KIAA1211_uc010iha.2_Missense_Mutation_p.K1164M NM_020722 NP_065773 Q6ZU35 K1211_HUMAN hypothetical protein LOC57482 1171 ovary(1)|skin(1) 2 Glioma(25;0.08)|all_neural(26;0.101) CAGCTGAAAAAGGCCAATACT 0.507 NA 8 38 0 0 0.006214 0 0 UGT2B11 10720 broad.mit.edu 37 4 70066243 70066243 + Missense_Mutation SNP G G T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr4:70066243G>T uc003heh.2 - 6 1514 c.1505C>A c.(1504-1506)GCA>GAA p.A502E uc003hei.1_RNA NM_001073 NP_001064 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, 502 Helical; (Potential). estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 3 TATCACAGTTGCCACACAGGC 0.438 NA 7 81 0.00198382 0.00215447 0.001984 1 0 UGT2B11 10720 broad.mit.edu 37 4 70079941 70079941 + Missense_Mutation SNP C C T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr4:70079941C>T uc003heh.2 - 1 509 c.500G>A c.(499-501)CGG>CAG p.R167Q uc003hei.1_Intron NM_001073 NP_001064 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, 167 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 3 GTACACAAACCGTATGTTAAG 0.418 NA 5 33 0 0 0.000602 0 0 SHROOM3 57619 broad.mit.edu 37 4 77661433 77661433 + Missense_Mutation SNP G G C TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr4:77661433G>C uc011cbx.1 + 5 3060 c.2107G>C c.(2107-2109)GAC>CAC p.D703H SHROOM3_uc011cbz.1_Missense_Mutation_p.D527H|SHROOM3_uc003hkf.1_Missense_Mutation_p.D578H|SHROOM3_uc003hkg.2_Missense_Mutation_p.D481H NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN shroom family member 3 protein 703 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding skin(2)|ovary(1) 3 Lung(101;0.0903) CAAGGCAGAAGACCCTGGGAG 0.652 NA 4 141 0 0 0.009096 0 0 FRAS1 80144 broad.mit.edu 37 4 79366688 79366688 + Missense_Mutation SNP G G C TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr4:79366688G>C uc003hlb.2 + 42 6118 c.5678G>C c.(5677-5679)GGC>GCC p.G1893A FRAS1_uc003hkw.2_Missense_Mutation_p.G1893A|FRAS1_uc010ijj.1_Missense_Mutation_p.G313A NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 1892 CSPG 7.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 GATCGTTTTGGCCCTGAAACT 0.413 NA 5 49 0 0 0.000602 0 0 RNF150 57484 broad.mit.edu 37 4 141888915 141888915 + Missense_Mutation SNP G G T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr4:141888915G>T uc003iio.1 - 2 1251 c.597C>A c.(595-597)AAC>AAA p.N199K RNF150_uc010iok.1_Missense_Mutation_p.N199K|RNF150_uc003iip.1_Missense_Mutation_p.N199K NM_020724 NP_065775 Q9ULK6 RN150_HUMAN ring finger protein 150 precursor 199 Extracellular (Potential). integral to membrane zinc ion binding ovary(1) 1 all_hematologic(180;0.162) ATTTCTGCAAGTTCCGGGTTC 0.468 NA 15 89 2.5808e-16 3.47547e-16 0.006122 1 0 GYPA 2993 broad.mit.edu 37 4 145039892 145039892 + Silent SNP T T C TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr4:145039892T>C uc003ijo.3 - 4 362 c.246A>G c.(244-246)CAA>CAG p.Q82Q GYPA_uc003ijn.2_Silent_p.Q82Q|GYPA_uc011cia.1_RNA|GYPA_uc011cib.1_Silent_p.Q49Q|GYPA_uc003ijp.3_Silent_p.Q50Q|GYPA_uc010ioq.2_Intron|GYPA_uc010ior.2_Silent_p.Q17Q|GYPA_uc010ios.1_Intron NM_002099 NP_002090 P02724 GLPA_HUMAN glycophorin A precursor 82 Extracellular. Q -> K (in ENAV/MARS antigen). interspecies interaction between organisms membrane fraction receptor activity central_nervous_system(2) 2 all_hematologic(180;0.15) GATGGGCAAGTTGTACCCTTT 0.323 NA 16 68 0 0 0.003163 0 0 SH3D19 152503 broad.mit.edu 37 4 152095909 152095909 + Missense_Mutation SNP T T C TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr4:152095909T>C uc010ipl.1 - 7 1697 c.607A>G c.(607-609)ATC>GTC p.I203V SH3D19_uc003imc.2_Missense_Mutation_p.I203V|SH3D19_uc003ime.2_Missense_Mutation_p.I203V|SH3D19_uc010ipm.2_Missense_Mutation_p.I203V NM_001009555 NP_001009555 Q5HYK7 SH319_HUMAN SH3 domain containing 19 isoform a 203 Pro-rich. cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport cytosol|Golgi apparatus|nucleus|plasma membrane proline-rich region binding ovary(1)|skin(1) 2 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.138) ATGAGATCGATGTCCACCAAG 0.527 NA 6 351 0 0 0.001168 0 0 TKTL2 84076 broad.mit.edu 37 4 164394375 164394375 + Missense_Mutation SNP G G A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr4:164394375G>A uc003iqp.3 - 1 673 c.512C>T c.(511-513)GCC>GTC p.A171V NM_032136 NP_115512 Q9H0I9 TKTL2_HUMAN transketolase-like 2 171 cytoplasm metal ion binding|transketolase activity ovary(2)|skin(2)|pancreas(1) 5 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) GTAGTGGGAGGCAAAAGCAAA 0.552 NA 20 61 0 0 0.010504 0 0 Unknown 0 broad.mit.edu 37 4 165980473 165980473 + Missense_Mutation SNP C C A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr4:165980473C>A uc011cjl.1 + 1 174 c.174C>A c.(172-174)CAC>CAA p.H58Q NM_001105575 NP_001099045 tripartite motif-containing 75 NA TCTGTCGTCACCAGTGTCAAG 0.522 NA 3 22 0.004672 0.00501991 0.004672 1 0 TLL1 7092 broad.mit.edu 37 4 167020587 167020587 + Missense_Mutation SNP G G C TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr4:167020587G>C uc003irh.1 + 20 3462 c.2815G>C c.(2815-2817)GAG>CAG p.E939Q TLL1_uc011cjn.1_Missense_Mutation_p.E962Q|TLL1_uc011cjo.1_Missense_Mutation_p.E763Q NM_012464 NP_036596 O43897 TLL1_HUMAN tolloid-like 1 precursor 939 CUB 5. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) ATTTGAAGTGGAGGAAGAAGC 0.463 NA 24 129 0 0 0.00333 0 0 FAT1 2195 broad.mit.edu 37 4 187539532 187539532 + Missense_Mutation SNP G G C TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr4:187539532G>C uc003izf.2 - 10 8396 c.8208C>G c.(8206-8208)AGC>AGG p.S2736R NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 2736 Extracellular (Potential).|Cadherin 25. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 CTTTGACCAGGCTGTAAAGAA 0.448 Colon(197;1040 2055 4143 4984 49344) NA HNSCC(5;0.00058) 10 173 0 0 0.013537 0 0 TRIML1 339976 broad.mit.edu 37 4 189063534 189063534 + Silent SNP G G A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr4:189063534G>A uc003izm.1 + 3 748 c.633G>A c.(631-633)CTG>CTA p.L211L TRIML1_uc003izn.1_5'Flank NM_178556 NP_848651 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 211 Potential. multicellular organismal development ligase activity|zinc ion binding ovary(1)|pancreas(1)|breast(1)|skin(1) 4 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) TGAGGAAGCTGAGGAACAATG 0.448 Melanoma(31;213 1036 16579 23968 32372) NA 7 59 0 0 0.001984 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5237160 5237160 + Missense_Mutation SNP G G A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr5:5237160G>A uc003jdl.2 + 14 2240 c.2102G>A c.(2101-2103)GGG>GAG p.G701E ADAMTS16_uc003jdk.1_Missense_Mutation_p.G701E|ADAMTS16_uc010itk.1_Intron NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 701 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 GTCAAAGATGGGACTCCATGC 0.308 NA 8 165 0 0 0.004482 0 0 CDH18 1016 broad.mit.edu 37 5 19473694 19473694 + Missense_Mutation SNP C C T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr5:19473694C>T uc003jgc.2 - 12 2391 c.2014G>A c.(2014-2016)GAC>AAC p.D672N CDH18_uc003jgd.2_Missense_Mutation_p.D672N|CDH18_uc011cnm.1_3'UTR NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 672 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) GCTGTGATGTCAAAGGCCTCT 0.507 NA 9 102 0 0 0.004482 0 0 OSMR 9180 broad.mit.edu 37 5 38885462 38885462 + Missense_Mutation SNP G G A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr5:38885462G>A uc003jln.1 + 6 1082 c.715G>A c.(715-717)GAG>AAG p.E239K OSMR_uc003jlm.1_Missense_Mutation_p.E239K NM_003999 NP_003990 Q99650 OSMR_HUMAN oncostatin M receptor precursor 239 Extracellular (Potential). cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 all_lung(31;0.000365) AGTACTTGAGGAGCCCAAGGA 0.443 NA 7 69 0 0 0.001984 0 0 C7 730 broad.mit.edu 37 5 40979944 40979944 + Missense_Mutation SNP C C A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr5:40979944C>A uc003jmh.2 + 17 2397 c.2283C>A c.(2281-2283)GAC>GAA p.D761E C7_uc011cpn.1_RNA NM_000587 NP_000578 P10643 CO7_HUMAN complement component 7 precursor 761 Complement control factor I module 1. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex 0 Ovarian(839;0.0112) CTGGTAGGGACAGCTGTACTC 0.473 NA 3 45 0.004672 0.00501991 0.004672 1 0 PARP8 79668 broad.mit.edu 37 5 50090157 50090157 + Missense_Mutation SNP C C T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr5:50090157C>T uc003jon.3 + 12 1036 c.854C>T c.(853-855)ACT>ATT p.T285I PARP8_uc011cpz.1_Missense_Mutation_p.T177I|PARP8_uc003joo.2_Missense_Mutation_p.T285I|PARP8_uc003jop.2_Missense_Mutation_p.T285I NM_024615 NP_078891 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 285 intracellular NAD+ ADP-ribosyltransferase activity lung(3)|large_intestine(1)|ovary(1) 5 Lung NSC(810;0.0305)|Breast(144;0.222) TTATTTTCTACTTTGCGCAGG 0.403 NA 12 93 0 0 0.010729 0 0 CMYA5 202333 broad.mit.edu 37 5 79030763 79030763 + Missense_Mutation SNP C C A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr5:79030763C>A uc003kgc.2 + 2 6247 c.6175C>A c.(6175-6177)CAG>AAG p.Q2059K NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2059 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) ATCAGTGGAACAGGTGAAGTC 0.463 NA 20 98 0.000132079 0.000153333 0.008871 1 0 SLCO6A1 133482 broad.mit.edu 37 5 101726745 101726745 + Missense_Mutation SNP C C A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr5:101726745C>A uc003knn.2 - 11 1991 c.1819G>T c.(1819-1821)GTA>TTA p.V607L SLCO6A1_uc003kno.2_Missense_Mutation_p.V354L|SLCO6A1_uc003knp.2_Missense_Mutation_p.V607L|SLCO6A1_uc003knq.2_Missense_Mutation_p.V545L NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, 607 Cytoplasmic (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|skin(3)|central_nervous_system(1) 7 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) TTGTCAGGTACAACCCTGAAA 0.338 NA 16 62 2.35188e-11 3.1051e-11 0.006122 1 0 PPIP5K2 23262 broad.mit.edu 37 5 102494220 102494220 + Silent SNP C C G TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr5:102494220C>G uc003kod.3 + 16 2199 c.1680C>G c.(1678-1680)CTC>CTG p.L560L PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Silent_p.L560L NM_015216 NP_056031 O43314 VIP2_HUMAN Histidine acid phosphatase domain containing 1 560 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity ovary(1)|skin(1) 2 GACATGACCTCAAAATATATG 0.328 NA 11 80 0 0 0.013537 0 0 FBN2 2201 broad.mit.edu 37 5 127728883 127728883 + Silent SNP G G A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr5:127728883G>A uc003kuu.2 - 10 1849 c.1410C>T c.(1408-1410)GGC>GGT p.G470G FBN2_uc003kuv.2_Silent_p.G437G NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 470 bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CTCCCCCAACGCCAGGAGAAA 0.577 NA 10 112 0 0 0.008291 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128983511 128983511 + Silent SNP C C T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr5:128983511C>T uc003kvb.1 + 12 1908 c.1908C>T c.(1906-1908)GCC>GCT p.A636A ADAMTS19_uc010jdh.1_RNA NM_133638 NP_598377 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 636 TSP type-1 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|breast(2)|lung(1)|skin(1) 9 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) AACATCTGGCCGGAGAGTGGA 0.517 NA 8 118 0 0 0.004482 0 0 PCDHA12 56137 broad.mit.edu 37 5 140257174 140257174 + Missense_Mutation SNP C C T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr5:140257174C>T uc003lic.2 + 1 2244 c.2117C>T c.(2116-2118)GCG>GTG p.A706V PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.A706V NM_018903 NP_061726 Q9UN75 PCDAC_HUMAN protocadherin alpha 12 isoform 1 precursor 706 Helical; (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCATCTGTGCGGTGTCCAGC 0.672 Pancreas(113;759 1672 13322 24104 50104) NA 7 46 0 0 0.004482 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140720634 140720634 + Missense_Mutation SNP C C T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr5:140720634C>T uc003ljk.1 + 1 2281 c.2096C>T c.(2095-2097)GCG>GTG p.A699V PCDHGA1_uc003lji.1_Intron|PCDHGA3_uc003ljm.1_5'Flank|PCDHGA3_uc010jfx.1_5'Flank|PCDHGA2_uc011dao.1_Missense_Mutation_p.A699V|PCDHGA3_uc011dap.1_5'Flank NM_018915 NP_061738 Q9Y5H1 PCDG2_HUMAN protocadherin gamma subfamily A, 2 isoform 1 699 Helical; (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGGTGGCCGCGGTCTCCTGC 0.662 NA 18 138 0 0 0.010504 0 0 PCDHGB6 56100 broad.mit.edu 37 5 140788222 140788222 + Silent SNP A A T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr5:140788222A>T uc003lkj.1 + 1 453 c.453A>T c.(451-453)CGA>CGT p.R151R PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Silent_p.R151R NM_018926 NP_061749 Q9Y5F9 PCDGI_HUMAN protocadherin gamma subfamily B, 6 isoform 1 151 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGTACACGACTATCGCTTG 0.348 NA 11 52 0 0 0.013537 0 0 ODZ2 57451 broad.mit.edu 37 5 167674048 167674048 + Missense_Mutation SNP G G T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr5:167674048G>T uc010jjd.2 + 27 6077 c.6077G>T c.(6076-6078)AGT>ATT p.S2026I ODZ2_uc003lzr.3_Missense_Mutation_p.S1796I|ODZ2_uc003lzt.3_Missense_Mutation_p.S1399I|ODZ2_uc010jje.2_Missense_Mutation_p.S1290I NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) GTCTACGACAGTACCGCCGTC 0.532 NA 12 110 4.3838e-07 5.46622e-07 0.001855 1 0 SLC34A1 6569 broad.mit.edu 37 5 176825194 176825194 + Silent SNP G G A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr5:176825194G>A uc003mgk.3 + 13 1928 c.1827G>A c.(1825-1827)CCG>CCA p.P609P NM_003052 NP_003043 Q06495 NPT2A_HUMAN solute carrier family 34 (sodium phosphate), 609 Cytoplasmic (Potential). phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport brush border membrane|integral to plasma membrane protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity ovary(1) 1 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCTCACCCCCGCTGCCCCCCA 0.687 NA 4 41 0 0 0.000602 0 0 FOXC1 2296 broad.mit.edu 37 6 1611205 1611205 + Silent SNP G G A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr6:1611205G>A uc003mtp.2 + 1 525 c.525G>A c.(523-525)AAG>AAA p.K175K NM_001453 NP_001444 Q12948 FOXC1_HUMAN forkhead box C1 175 anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis nuclear heterochromatin|transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding ovary(1) 1 Ovarian(93;0.0733) all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895) Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168) GGCGCTTCAAGAAGAAGGACG 0.493 Pancreas(133;719 1821 3197 26645 35015) NA 6 25 0 0 0.001168 0 0 SYCP2L 221711 broad.mit.edu 37 6 10959066 10959066 + Missense_Mutation SNP C C A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr6:10959066C>A uc003mzo.2 + 26 2509 c.2213C>A c.(2212-2214)CCG>CAG p.P738Q SYCP2L_uc010jow.2_Missense_Mutation_p.P358Q NM_001040274 NP_001035364 Q5T4T6 SYC2L_HUMAN synaptonemal complex protein 2-like 738 nucleus ovary(1)|skin(1) 2 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) AAGAAAGCACCGGATTGCCTA 0.343 NA 12 59 2.31682e-05 2.76922e-05 0.003163 1 0 GTPBP2 54676 broad.mit.edu 37 6 43592282 43592282 + Silent SNP G G A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr6:43592282G>A uc003ovs.2 - 7 1102 c.1065C>T c.(1063-1065)GCC>GCT p.A355A GTPBP2_uc010jyv.2_Silent_p.A267A|GTPBP2_uc003ovt.1_Silent_p.A355A NM_019096 NP_061969 Q9BX10 GTPB2_HUMAN GTP binding protein 2 355 GTP binding|GTPase activity liver(1)|skin(1) 2 all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167) CAGCAGTGACGGCATCATCCT 0.602 GBM(116;405 1620 28302 32150 44768) NA 11 44 0 0 0.013537 0 0 PKHD1 5314 broad.mit.edu 37 6 51908488 51908488 + Missense_Mutation SNP C C A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr6:51908488C>A uc003pah.1 - 26 3032 c.2756G>T c.(2755-2757)GGT>GTT p.G919V PKHD1_uc003pai.2_Missense_Mutation_p.G919V NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 919 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) AGAGCAGGAACCTGGGCAATG 0.443 NA 8 33 0.000274275 0.000307798 0.004482 1 0 MDN1 23195 broad.mit.edu 37 6 90365610 90365610 + Silent SNP C C G TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr6:90365610C>G uc003pnn.1 - 92 15479 c.15363G>C c.(15361-15363)CTG>CTC p.L5121L NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 5121 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) CCACAGTCCTCAGCCTCTTGT 0.507 NA 6 59 0 0 0.001984 0 0 CASP8AP2 9994 broad.mit.edu 37 6 90573714 90573714 + Silent SNP C C T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr6:90573714C>T uc003pnr.2 + 7 2482 c.2286C>T c.(2284-2286)AGC>AGT p.S762S CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Silent_p.S762S|CASP8AP2_uc011dzz.1_Silent_p.S762S NM_001137667 NP_001131139 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 762 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity ovary(2) 2 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) CCACTGAAAGCATTTTGCAGC 0.368 Colon(187;1656 2025 17045 31481 39901) NA 9 103 0 0 0.004482 0 0 GPR63 81491 broad.mit.edu 37 6 97247416 97247416 + Silent SNP T T A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr6:97247416T>A uc010kcl.2 - 3 670 c.192A>T c.(190-192)ACA>ACT p.T64T GPR63_uc003pou.2_Silent_p.T64T NM_001143957 NP_001137429 Q9BZJ6 GPR63_HUMAN G protein-coupled receptor 63 64 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721) BRCA - Breast invasive adenocarcinoma(108;0.0912) TGGGCACAGCTGTACTATTCA 0.443 NA 10 51 0 0 0.006214 0 0 SERINC1 57515 broad.mit.edu 37 6 122773169 122773169 + Missense_Mutation SNP A A G TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr6:122773169A>G uc003pyy.1 - 6 693 c.623T>C c.(622-624)CTG>CCG p.L208P NM_020755 NP_065806 Q9NRX5 SERC1_HUMAN serine incorporator 1 208 Helical; (Potential). phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane L-serine transmembrane transporter activity|protein binding ovary(1) 1 GBM - Glioblastoma multiforme(226;0.126) AACTAAAGACAGCAGATAATT 0.383 NA 7 35 0 0 0.001984 0 0 NCOA7 135112 broad.mit.edu 37 6 126199463 126199463 + Missense_Mutation SNP A A G TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr6:126199463A>G uc010kes.2 + 7 855 c.406A>G c.(406-408)AAT>GAT p.N136D NCOA7_uc003qae.3_Missense_Mutation_p.N136D|NCOA7_uc003qah.2_Missense_Mutation_p.N136D|NCOA7_uc003qai.2_Missense_Mutation_p.N136D|NCOA7_uc010ket.2_Missense_Mutation_p.N32D|NCOA7_uc003qaf.2_Missense_Mutation_p.N136D|NCOA7_uc003qag.2_Missense_Mutation_p.N136D NM_181782 NP_861447 Q8NI08 NCOA7_HUMAN nuclear receptor coactivator 7 isoform 1 136 LysM. cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(2)|ovary(1) 3 UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237) CATCACTCCCAATAAATTGGT 0.338 NA 8 37 0 0 0.00308 0 0 BCLAF1 9774 broad.mit.edu 37 6 136597097 136597097 + Silent SNP T T G TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr6:136597097T>G uc003qgx.1 - 5 1819 c.1566A>C c.(1564-1566)CGA>CGC p.R522R BCLAF1_uc003qgw.1_Silent_p.R349R|BCLAF1_uc003qgy.1_Silent_p.R520R|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Silent_p.R520R NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 522 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TAGACTTTTCTCGTGCATCCA 0.443 Colon(142;1534 1789 5427 7063 28491) NA 22 227 0 0 0.00278 0 0 HOXA3 3200 broad.mit.edu 37 7 27147768 27147768 + Silent SNP G G A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr7:27147768G>A uc011jzl.1 - 3 1298 c.1098C>T c.(1096-1098)TTC>TTT p.F366F HOXA3_uc011jzk.1_Silent_p.F208F|HOXA3_uc003syk.2_Silent_p.F366F NM_030661 NP_109377 O43365 HXA3_HUMAN homeobox A3 isoform a 366 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2) 2 TGCCCCCCACGAAGACGGGGC 0.677 Esophageal Squamous(136;1368 1743 5685 7935 50360) NA 6 21 0 0 0.001168 0 0 PKD1L1 168507 broad.mit.edu 37 7 47882626 47882626 + Silent SNP C C T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr7:47882626C>T uc003tny.1 - 34 5379 c.5379G>A c.(5377-5379)CCG>CCA p.P1793P NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 1793 Cytoplasmic (Potential). cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 GCTGATGGCCCGGCAGGGAAG 0.473 NA 14 61 0 0 0.001855 0 0 ZPBP 11055 broad.mit.edu 37 7 50070836 50070836 + Silent SNP A A G TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr7:50070836A>G uc003tou.2 - 5 628 c.558T>C c.(556-558)TAT>TAC p.Y186Y ZPBP_uc011kci.1_Silent_p.Y112Y|ZPBP_uc010kyw.2_Silent_p.Y185Y NM_007009 NP_008940 Q9BS86 ZPBP1_HUMAN zona pellucida binding protein isoform 1 186 binding of sperm to zona pellucida extracellular region 0 Glioma(55;0.08)|all_neural(89;0.245) AAGAAATATTATAAATGCTAT 0.343 NA 8 59 0 0 0.004482 0 0 GRB10 2887 broad.mit.edu 37 7 50663155 50663155 + Missense_Mutation SNP A A C TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr7:50663155A>C uc003tpi.2 - 15 1648 c.1617T>G c.(1615-1617)ATT>ATG p.I539M GRB10_uc003tph.3_Missense_Mutation_p.I481M|GRB10_uc003tpj.2_Missense_Mutation_p.I493M|GRB10_uc003tpk.2_Missense_Mutation_p.I539M|GRB10_uc010kzb.2_Missense_Mutation_p.I481M|GRB10_uc003tpl.2_Missense_Mutation_p.I533M|GRB10_uc003tpm.2_Missense_Mutation_p.I481M|GRB10_uc003tpn.2_Missense_Mutation_p.I481M NM_005311 NP_005302 Q13322 GRB10_HUMAN growth factor receptor-bound protein 10 isoform 539 SH2. insulin receptor signaling pathway|insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway cytosol|plasma membrane insulin receptor binding|insulin receptor binding|SH3/SH2 adaptor activity lung(3)|ovary(2)|upper_aerodigestive_tract(1) 6 Glioma(55;0.08)|all_neural(89;0.245) GGAAATTTTTAATTTTCTGGT 0.378 NA Russell-Silver_syndrome 89 319 0 0 0.01441 0 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72658179 72658179 + Missense_Mutation SNP T T C rs147293416 by1000genomes TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr7:72658179T>C uc003txs.1 - 13 1733 c.805A>G c.(805-807)AAA>GAA p.K269E FKBP6_uc003twz.2_Intron NR_002164 RecName: Full=General transcription factor II-I repeat domain-containing protein 2B; AltName: Full=GTF2I repeat domain-containing protein 2B; AltName: Full=Transcription factor GTF2IRD2-beta; 0 cagagtgatttcggatgaatt 0 NA 4 47 0 0 0.000602 0 0 MOGAT3 346606 broad.mit.edu 37 7 100841637 100841637 + Missense_Mutation SNP G G A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr7:100841637G>A uc003uyc.2 - 5 670 c.503C>T c.(502-504)CCG>CTG p.P168L MOGAT3_uc010lhr.2_Missense_Mutation_p.P168L NM_178176 NP_835470 Q86VF5 MOGT3_HUMAN monoacylglycerol O-acyltransferase 3 168 glycerol metabolic process|lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity ovary(2) 2 Lung NSC(181;0.168)|all_lung(186;0.215) GCGGCTCACCGGACAGAGTCC 0.657 NA 3 26 0 0 0.004672 0 0 MET 4233 broad.mit.edu 37 7 116412045 116412045 + Splice_Site SNP T T C TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr7:116412045T>C uc003vij.2 + 14 3215 c.3028_splice c.e14+2 p.D1010_splice MET_uc010lkh.2_Splice_Site_p.D1028_splice|MET_uc011knj.1_Splice_Site_p.D580_splice NM_000245 NP_000236 P08581 MET_HUMAN met proto-oncogene isoform b precursor axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding p.?(2)|p.982_1028del47(1) upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1) 159 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) TTCCAGAAGGTATATTTCAGT 0.343 NA Mis papillary renal|head-neck squamous cell papillary renal Hereditary_Papillary_Renal_Carcinoma_(type_1) 9 32 0 0 0.006214 0 0 AKR1B10 57016 broad.mit.edu 37 7 134222969 134222969 + Missense_Mutation SNP G G C TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr7:134222969G>C uc003vrr.2 + 8 1085 c.765G>C c.(763-765)CAG>CAC p.Q255H NM_020299 NP_064695 O60218 AK1BA_HUMAN aldo-keto reductase family 1, member B10 255 cellular aldehyde metabolic process|digestion|steroid metabolic process cytoplasm aldo-keto reductase (NADP) activity|protein binding skin(5) 5 TCCATATCCAGAGGAATGTGA 0.488 NA 42 130 0 0 0.010771 0 0 XKR6 286046 broad.mit.edu 37 8 10755669 10755669 + Silent SNP C C T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr8:10755669C>T uc003wtk.1 - 3 1746 c.1719G>A c.(1717-1719)CCG>CCA p.P573P NM_173683 NP_775954 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related 573 integral to membrane ovary(1)|skin(1) 2 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) GACGCCCCAACGGGGTAGGGG 0.557 NA 4 44 0 0 0.009096 0 0 DPYSL2 1808 broad.mit.edu 37 8 26501589 26501589 + Silent SNP C C T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr8:26501589C>T uc003xfb.1 + 10 1442 c.1092C>T c.(1090-1092)GTC>GTT p.V364V DPYSL2_uc003xfa.2_Silent_p.V469V|DPYSL2_uc010luk.1_RNA|DPYSL2_uc011lah.1_Silent_p.V328V NM_001386 NP_001377 Q16555 DPYL2_HUMAN dihydropyrimidinase-like 2 364 axon guidance|pyrimidine base catabolic process|signal transduction cytosol dihydropyrimidinase activity|protein binding large_intestine(1) 1 all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183) GGATGTCCGTCATCTGGGACA 0.587 NA 3 17 0 0 0.004672 0 0 CYP7B1 9420 broad.mit.edu 37 8 65509420 65509420 + Nonsense_Mutation SNP T T A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr8:65509420T>A uc003xvj.2 - 6 1504 c.1300A>T c.(1300-1302)AAG>TAG p.K434* NM_004820 NP_004811 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, 434 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) CACTTCAGCTTTTTCCCTCTT 0.333 NA 5 50 0 0 0.000602 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885615 88885615 + Missense_Mutation SNP G G T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr8:88885615G>T uc003ydz.2 - 1 682 c.585C>A c.(583-585)CAC>CAA p.H195Q NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 195 ovary(1) 1 AGTGATACGCGTGGATGCTCA 0.557 NA 5 104 1.23904e-05 1.4898e-05 0.000602 1 0 FAM83A 84985 broad.mit.edu 37 8 124195477 124195477 + Silent SNP C C G TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr8:124195477C>G uc003ypv.2 + 2 2395 c.381C>G c.(379-381)CCC>CCG p.P127P FAM83A_uc003ypw.2_Silent_p.P127P|FAM83A_uc003ypy.2_Silent_p.P127P|FAM83A_uc003ypx.2_Silent_p.P127P|FAM83A_uc003ypz.2_Silent_p.P127P NM_032899 NP_116288 Q86UY5 FA83A_HUMAN hypothetical protein LOC84985 isoform a 127 ovary(3)|skin(1) 4 Lung NSC(37;1.55e-09)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) CTGAGAAGCCCTACCTGAAGG 0.612 NA 14 120 0 0 0.00499 0 0 EFR3A 23167 broad.mit.edu 37 8 132982805 132982805 + Silent SNP G G C TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr8:132982805G>C uc003yte.2 + 10 1275 c.1074G>C c.(1072-1074)GGG>GGC p.G358G NM_015137 NP_055952 Q14156 EFR3A_HUMAN EFR3 homolog A 358 plasma membrane binding p.S348fs*15(1) ovary(3)|breast(1)|central_nervous_system(1) 5 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) ATTTACAGGGGGGATCTGTAG 0.403 NA 5 69 0 0 0.000602 0 0 GLIS3 169792 broad.mit.edu 37 9 3879429 3879429 + Silent SNP C C T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr9:3879429C>T uc003zhw.1 - 7 2024 c.1830G>A c.(1828-1830)GAG>GAA p.E610E GLIS3_uc003zhx.1_Silent_p.E765E|GLIS3_uc010mhf.1_Silent_p.E159E|GLIS3_uc003zhv.1_RNA|GLIS3_uc003zhy.1_Silent_p.E543E NM_152629 NP_689842 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 isoform b 610 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) GGCCTTACCTCTCAGCTCCTG 0.517 NA 4 58 0 0 0.000602 0 0 KIAA1797 54914 broad.mit.edu 37 9 20933099 20933099 + Missense_Mutation SNP A A T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr9:20933099A>T uc003zog.1 + 30 3767 c.3404A>T c.(3403-3405)TAC>TTC p.Y1135F KIAA1797_uc003zoh.1_Missense_Mutation_p.Y571F NM_017794 NP_060264 Q5VW36 K1797_HUMAN hypothetical protein LOC54914 1135 integral to membrane binding ovary(8)|breast(1)|kidney(1) 10 GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11) AGTCTTGAATACAAGTATGTT 0.383 NA 8 61 0 0 0.006214 0 0 KIAA1797 54914 broad.mit.edu 37 9 20933101 20933101 + Missense_Mutation SNP A A T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr9:20933101A>T uc003zog.1 + 30 3769 c.3406A>T c.(3406-3408)AAC>TAC p.N1136Y KIAA1797_uc003zoh.1_Missense_Mutation_p.N572Y NM_017794 NP_060264 Q5VW36 K1797_HUMAN hypothetical protein LOC54914 1136 integral to membrane binding ovary(8)|breast(1)|kidney(1) 10 GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11) TCTTGAATACAAGTATGTTGT 0.378 NA 7 61 0 0 0.004482 0 0 FAM75A3 727830 broad.mit.edu 37 9 40702809 40702809 + Missense_Mutation SNP G G A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr9:40702809G>A uc010mmj.2 + 4 495 c.466G>A c.(466-468)GAT>AAT p.D156N NM_001083124 NP_001076593 Q5VYP0 F75A3_HUMAN hypothetical protein LOC727830 156 Pro-rich. integral to membrane ovary(2)|skin(1) 3 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) AGCTTCCCCGGATCCTCAAGC 0.597 NA 43 262 0 0 0.01441 0 0 SLC28A3 64078 broad.mit.edu 37 9 86917148 86917148 + Missense_Mutation SNP C C T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr9:86917148C>T uc010mpz.2 - 5 616 c.491G>A c.(490-492)AGG>AAG p.R164K SLC28A3_uc011lsy.1_Missense_Mutation_p.R95K|SLC28A3_uc004anu.1_Missense_Mutation_p.R164K|SLC28A3_uc010mqb.2_Missense_Mutation_p.R95K NM_022127 NP_071410 Q9HAS3 S28A3_HUMAN concentrative Na+-nucleoside cotransporter 164 Cytoplasmic (Potential). nucleobase, nucleoside and nucleotide metabolic process integral to membrane|plasma membrane nucleoside binding upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1) 4 GTTTAGAAGCCTTCTGCCAGG 0.433 Ovarian(106;425 1539 34835 42413 43572) NA 16 69 0 0 0.006122 0 0 COL15A1 1306 broad.mit.edu 37 9 101765772 101765772 + Missense_Mutation SNP C C A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr9:101765772C>A uc004azb.1 + 8 1309 c.1103C>A c.(1102-1104)CCC>CAC p.P368H NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor 368 Nonhelical region 1 (NC1).|1.|4 X tandem repeats. angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) GCCGAGGTGCCCATCAGCACT 0.587 NA 23 101 7.07758e-08 8.99164e-08 0.004656 1 0 RNF20 56254 broad.mit.edu 37 9 104314736 104314736 + Silent SNP G G A rs146044886 TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr9:104314736G>A uc004bbn.2 + 13 1692 c.1602G>A c.(1600-1602)GCG>GCA p.A534A NM_019592 NP_062538 Q5VTR2 BRE1A_HUMAN ring finger protein 20 534 Potential. histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process nucleolus|ubiquitin ligase complex histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1) 8 all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311) ATGAGCCTGCGGAGCTAAAAC 0.488 NA 15 150 0 0 0.003163 0 0 WDR38 401551 broad.mit.edu 37 9 127618838 127618838 + Missense_Mutation SNP G G A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr9:127618838G>A uc004box.2 + 6 633 c.577G>A c.(577-579)GCC>ACC p.A193T WDR38_uc011lzn.1_Missense_Mutation_p.A182T|WDR38_uc011lzo.1_Missense_Mutation_p.A193T|WDR38_uc011lzp.1_Missense_Mutation_p.A144T NM_001045476 NP_001038941 Q5JTN6 WDR38_HUMAN WD repeat domain 38 193 WD 5. 0 GGGACACAGTGCCAACATCAG 0.642 NA 7 13 0 0 0.001984 0 0 TTC16 158248 broad.mit.edu 37 9 130488670 130488670 + Missense_Mutation SNP C C G TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr9:130488670C>G uc004brq.1 + 10 1479 c.1412C>G c.(1411-1413)CCC>CGC p.P471R PTRH1_uc011mah.1_5'Flank|TTC16_uc011mai.1_Missense_Mutation_p.P458R|TTC16_uc004brr.1_Missense_Mutation_p.P369A|TTC16_uc010mxn.1_Missense_Mutation_p.P67R NM_144965 NP_659402 Q8NEE8 TTC16_HUMAN tetratricopeptide repeat domain 16 471 binding 0 CTCCTCAACCCCAAGCAACCA 0.582 NA 3 54 0 0 0.004672 0 0 COL5A1 1289 broad.mit.edu 37 9 137646164 137646164 + Nonsense_Mutation SNP G G T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr9:137646164G>T uc004cfe.2 + 16 2201 c.1819G>T c.(1819-1821)GGA>TGA p.G607* NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 607 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CGGGAAGCCCGGAAGACGGGT 0.642 NA 16 81 1.01871e-10 1.33623e-10 0.008871 1 0 QSOX2 169714 broad.mit.edu 37 9 139110585 139110585 + Missense_Mutation SNP G G C TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr9:139110585G>C uc010nbi.2 - 8 1064 c.1026C>G c.(1024-1026)CAC>CAG p.H342Q NM_181701 NP_859052 Q6ZRP7 QSOX2_HUMAN quiescin Q6 sulfhydryl oxidase 2 precursor 342 cell redox homeostasis extracellular region|integral to membrane|nuclear membrane|plasma membrane thiol oxidase activity ovary(1) 1 Myeloproliferative disorder(178;0.0511) Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07) CCAGGGACTTGTGGGCTGCCA 0.597 NA 5 39 0 0 0.001984 0 0 ARSF 416 broad.mit.edu 37 X 3002444 3002444 + Silent SNP C C G TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chrX:3002444C>G uc004cre.1 + 6 788 c.567C>G c.(565-567)CTC>CTG p.L189L ARSF_uc004crf.1_Silent_p.L189L NM_004042 NP_004033 P54793 ARSF_HUMAN arylsulfatase F precursor 189 extracellular region arylsulfatase activity|metal ion binding ovary(2) 2 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) AGAGTCAGCTCTGGCTCTGTG 0.537 NA 4 48 0 0 0.000602 0 0 SMC1A 8243 broad.mit.edu 37 X 53432771 53432771 + Missense_Mutation SNP C C T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chrX:53432771C>T uc004dsg.2 - 10 1732 c.1663G>A c.(1663-1665)GAC>AAC p.D555N SMC1A_uc011moe.1_Missense_Mutation_p.D533N|SMC1A_uc011mof.1_Missense_Mutation_p.D321N NM_006306 NP_006297 Q14683 SMC1A_HUMAN structural maintenance of chromosomes 1A 555 Flexible hinge. cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity ovary(5)|central_nervous_system(1) 6 TGAATACAGTCCCGGCCTGTC 0.517 NA 4 18 0 0 0.009096 0 0 PABPC5 140886 broad.mit.edu 37 X 90690801 90690801 + Silent SNP C C A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chrX:90690801C>A uc004efg.2 + 2 665 c.225C>A c.(223-225)GCC>GCA p.A75A PABPC5_uc004eff.1_Intron NM_080832 NP_543022 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 75 RRM 1. cytoplasm nucleotide binding|RNA binding ovary(1)|lung(1)|pancreas(1) 3 CAGAGTGGGCCTTGAACACCA 0.512 NA 8 14 0.000157383 0.000178604 0.00308 1 0 IRS4 8471 broad.mit.edu 37 X 107975900 107975900 + Silent SNP G G T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chrX:107975900G>T uc004eoc.2 - 1 3708 c.3675C>A c.(3673-3675)CCC>CCA p.P1225P NM_003604 NP_003595 O14654 IRS4_HUMAN insulin receptor substrate 4 1225 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1) 10 CTCTCTCCGGGGGTCTTGGCA 0.577 NA 57 105 4.33383e-22 5.99612e-22 0.01441 1 0 TRPC5 7224 broad.mit.edu 37 X 111019956 111019956 + Missense_Mutation SNP G G C TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chrX:111019956G>C uc004epl.1 - 11 3426 c.2507C>G c.(2506-2508)TCC>TGC p.S836C NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, 836 Cytoplasmic (Potential). axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity urinary_tract(1) 1 ACCCATGAAGGAGCGTTTGCT 0.458 NA 21 89 0 0 0.014323 0 0 UBR4 23352 broad.mit.edu 37 1 19499434 19499434 + Frame_Shift_Del DEL G G - TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr1:19499434delG uc001bbi.2 - 25 3449 c.3445delC c.(3445-3447)CATfs p.H1149fs UBR4_uc001bbm.1_Frame_Shift_Del_p.H360fs NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 1149 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) GACGACTTATGAGGATCAGTC 0.512 NA 13 69 --- --- --- --- NA NA NA NA NA CD55 1604 broad.mit.edu 37 1 207504605 207504607 + In_Frame_Del DEL GAA GAA - TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 GAA GAA - - GAA GAA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr1:207504605_207504607delGAA uc001hfq.3 + 6 1111_1113 c.817_819delGAA c.(817-819)GAAdel p.E273del CD55_uc001hfp.3_In_Frame_Del_p.E273del|CD55_uc001hfr.3_In_Frame_Del_p.E273del|CD55_uc010psf.1_RNA|CD55_uc009xcf.2_In_Frame_Del_p.E209del|CD55_uc009xce.2_In_Frame_Del_p.E273del|CD55_uc009xcg.2_In_Frame_Del_p.E15del NM_000574 NP_000565 P08174 DAF_HUMAN decay accelerating factor for complement isoform 273 Sushi 4. complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction receptor activity ovary(1) 1 Chloramphenicol(DB00446) GAATAATGATGAAGGAGAGTGGA 0.32 NA 10 131 --- --- --- --- NA NA NA NA NA Unknown 0 broad.mit.edu 37 15 29090935 29090936 + Frame_Shift_Ins INS - - T TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr15:29090935_29090936insT uc010uar.1 - 5 409_410 c.280_281insA c.(280-282)ATCfs p.I94fs SubName: Full=cDNA FLJ59069, weakly similar to Golgin subfamily A member 6; NA ACACATAAGGATTCGTATGGTA 0.505 NA 10 3 --- --- --- --- NA NA NA NA NA ITGA4 3676 broad.mit.edu 37 2 182359493 182359495 + In_Frame_Del DEL ACA ACA - TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 ACA ACA - - ACA ACA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr2:182359493_182359495delACA uc002unu.2 + 12 2056_2058 c.1293_1295delACA c.(1291-1296)GGACAG>GGG p.Q432del NM_000885 NP_000876 P13612 ITA4_HUMAN integrin alpha 4 precursor 432 FG-GAP 7.|Extracellular (Potential). blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) GTATGTTTGGACAGTCTATATCA 0.31 NA 16 151 --- --- --- --- NA NA NA NA NA CTNND2 1501 broad.mit.edu 37 5 11110989 11110991 + In_Frame_Del DEL TTC TTC - TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 TTC TTC - - TTC TTC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr5:11110989_11110991delTTC uc003jfa.1 - 14 2587_2589 c.2442_2444delGAA c.(2440-2445)AAGAAA>AAA p.814_815KK>K CTNND2_uc010itt.2_In_Frame_Del_p.723_724KK>K|CTNND2_uc011cmy.1_In_Frame_Del_p.477_478KK>K|CTNND2_uc011cmz.1_In_Frame_Del_p.381_382KK>K|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_In_Frame_Del_p.381_382KK>K NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 814_815 Poly-Lys. multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 GGATTTCTTTTTCTTCTTCTTCT 0.502 NA 9 670 --- --- --- --- NA NA NA NA NA SUN1 23353 broad.mit.edu 37 7 893192 893192 + Frame_Shift_Del DEL G G - TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr7:893192delG uc011jvp.1 + 11 1279 c.1200delG c.(1198-1200)ATGfs p.M400fs GET4_uc003sjj.1_RNA|SUN1_uc003sjf.2_Frame_Shift_Del_p.M317fs|SUN1_uc011jvq.1_Frame_Shift_Del_p.M297fs|SUN1_uc003sjg.2_Frame_Shift_Del_p.M305fs|SUN1_uc011jvr.1_Frame_Shift_Del_p.M209fs|SUN1_uc003sji.2_Frame_Shift_Del_p.M238fs|SUN1_uc003sjk.2_Frame_Shift_Del_p.M39fs NM_001130965 NP_001124437 O94901 SUN1_HUMAN unc-84 homolog A isoform a 427 Perinuclear space.|Potential. cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding 0 TGGACCAGATGGAAGGCGGCG 0.647 NA 12 76 --- --- --- --- NA NA NA NA NA ABCA13 154664 broad.mit.edu 37 7 48547627 48547627 + Frame_Shift_Del DEL A A - TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chr7:48547627delA uc003toq.2 + 50 13531 c.13506delA c.(13504-13506)ACAfs p.T4502fs ABCA13_uc010kys.1_Frame_Shift_Del_p.T1577fs|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Frame_Shift_Del_p.T232fs NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 4502 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 ACTGGTTCACAAACTTCCTAT 0.493 NA 7 46 --- --- --- --- NA NA NA NA NA OFD1 8481 broad.mit.edu 37 X 13764945 13764946 + Frame_Shift_Ins INS - - A TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e359b24f-7312-432f-b054-68dedc027df2 a7bd52d4-5248-4a03-ac40-1169fe1d45f7 g.chrX:13764945_13764946insA uc004cvp.3 + 8 1060_1061 c.701_702insA c.(700-702)GCAfs p.A234fs OFD1_uc004cvr.3_5'UTR|OFD1_uc011mil.1_5'UTR|OFD1_uc004cvq.3_Frame_Shift_Ins_p.A94fs|OFD1_uc010nen.2_Frame_Shift_Ins_p.A233fs|OFD1_uc004cvs.3_RNA|OFD1_uc004cvu.3_Frame_Shift_Ins_p.A233fs|OFD1_uc004cvv.3_Frame_Shift_Ins_p.A233fs|OFD1_uc010neo.1_Frame_Shift_Ins_p.A20fs NM_003611 NP_003602 O75665 OFD1_HUMAN oral-facial-digital syndrome 1 234 Potential. cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle centriole|cilium|cytosol|microtubule basal body|nuclear membrane alpha-tubulin binding|gamma-tubulin binding 0 AAAATGGAAGCAAAAAAAAAGT 0.302 NA 11 37 --- --- --- --- NA NA NA NA NA