Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut MEGF6 1953 broad.mit.edu 37 1 3512006 3512006 + Missense_Mutation SNP A A T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr1:3512006A>T uc001akl.2 - 3 499 c.272T>A c.(271-273)GTC>GAC p.V91D NM_001409 NP_001400 O75095 MEGF6_HUMAN EGF-like-domain, multiple 3 precursor 91 EMI. extracellular region calcium ion binding large_intestine(1) 1 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) CATGTAGTAGACGGTTCTAGA 0.617 NA 23 49 0 0 0 0 VPS13D 55187 broad.mit.edu 37 1 12557603 12557603 + Missense_Mutation SNP G G C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr1:12557603G>C uc001atv.2 + 68 12853 c.12712G>C c.(12712-12714)GGG>CGG p.G4238R VPS13D_uc001atw.2_Missense_Mutation_p.G4213R|VPS13D_uc001atx.2_Missense_Mutation_p.G3425R|VPS13D_uc009vnl.2_RNA|VPS13D_uc010obd.1_Missense_Mutation_p.G236R NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 4237 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GGGGCCCCAGGGGCTGCTTCC 0.517 NA 42 84 0 0 0 0 CELA2A 63036 broad.mit.edu 37 1 15788127 15788127 + Missense_Mutation SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr1:15788127G>T uc001awk.2 + 3 227 c.201G>T c.(199-201)TGG>TGT p.W67C NM_033440 NP_254275 P08217 CEL2A_HUMAN elastase 2A preproprotein 67 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity ovary(2) 2 CCAACAGCTGGGTCCTGACGG 0.607 NA 51 100 4.26e-23 5.75e-23 1 0 HSPG2 3339 broad.mit.edu 37 1 22168731 22168731 + Splice_Site SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr1:22168731C>A uc001bfj.2 - 68 9092 c.9052_splice c.e68+1 p.R3018_splice HSPG2_uc009vqd.2_Splice_Site_p.R3019_splice NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GCCATACTCACGGTAGGAAGA 0.652 NA 25 37 2.4e-15 3.03e-15 1 0 IQCC 55721 broad.mit.edu 37 1 32672224 32672224 + Missense_Mutation SNP A A C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr1:32672224A>C uc001bum.2 + 3 348 c.301A>C c.(301-303)ATG>CTG p.M101L IQCC_uc009vua.2_Missense_Mutation_p.M181L|IQCC_uc010ogz.1_Missense_Mutation_p.M1L|DCDC2B_uc001bun.2_5'Flank NM_018134 NP_060604 Q4KMZ1 IQCC_HUMAN IQ motif containing C isoform 2 101 ovary(4) 4 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) CTGGGAGGAGATGGTGCTGAA 0.547 NA 56 77 0 0 0 0 CSMD2 114784 broad.mit.edu 37 1 34180272 34180272 + Silent SNP G G A rs145807635 TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr1:34180272G>A uc001bxn.1 - 21 3230 c.3201C>T c.(3199-3201)CCC>CCT p.P1067P CSMD2_uc001bxm.1_Silent_p.P1107P NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1067 Sushi 6.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GACGGTACCCGGGGAAGCAGG 0.662 NA 96 122 0 0 0 0 TIE1 7075 broad.mit.edu 37 1 43774729 43774729 + Missense_Mutation SNP G G C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr1:43774729G>C uc001ciu.2 + 8 1194 c.1115G>C c.(1114-1116)TGT>TCT p.C372S TIE1_uc010okd.1_Missense_Mutation_p.C372S|TIE1_uc010oke.1_Missense_Mutation_p.C327S|TIE1_uc009vwq.2_Missense_Mutation_p.C328S|TIE1_uc010okf.1_Missense_Mutation_p.C17S|TIE1_uc010okg.1_Missense_Mutation_p.C17S|TIE1_uc010okc.1_Intron NM_005424 NP_005415 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and 372 Ig-like C2-type 2.|Extracellular (Potential). mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CGGATCAACTGTGCAGCTGCA 0.607 NA 37 75 0 0 0 0 EIF2B3 8891 broad.mit.edu 37 1 45407189 45407189 + Missense_Mutation SNP T T G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr1:45407189T>G uc001cmt.1 - 4 570 c.443A>C c.(442-444)AAA>ACA p.K148T EIF2B3_uc001cmu.1_Missense_Mutation_p.K148T|EIF2B3_uc001cmv.1_Missense_Mutation_p.K148T|EIF2B3_uc001cmw.2_Missense_Mutation_p.K148T NM_020365 NP_065098 Q9NR50 EI2BG_HUMAN eukaryotic translation initiation factor 2B, 148 negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex nucleotidyltransferase activity|protein binding|translation initiation factor activity ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) TGCTTTTTTTTTCCCCTTTTG 0.338 NA 78 110 0 0 0 0 ZFYVE9 9372 broad.mit.edu 37 1 52705124 52705124 + Nonsense_Mutation SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr1:52705124G>T uc001cto.2 + 4 2207 c.2035G>T c.(2035-2037)GGA>TGA p.G679* ZFYVE9_uc001ctn.2_Nonsense_Mutation_p.G679*|ZFYVE9_uc001ctp.2_Nonsense_Mutation_p.G679* NM_004799 NP_004790 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 isoform 3 679 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity ovary(2)|lung(2)|central_nervous_system(2)|skin(2) 8 TGGTCAGTTTGGAATTTCTGC 0.478 NA 78 123 1.13e-35 1.62e-35 1 0 C1orf168 199920 broad.mit.edu 37 1 57258099 57258099 + Silent SNP T T C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr1:57258099T>C uc001cym.3 - 2 793 c.387A>G c.(385-387)AAA>AAG p.K129K C1orf168_uc009vzu.1_RNA|C1orf168_uc009vzv.1_Silent_p.K129K NM_001004303 NP_001004303 Q5VWT5 CA168_HUMAN hypothetical protein LOC199920 129 ovary(3)|skin(2) 5 CCACCATTACTTTTTCCTTAG 0.418 NA 116 176 0 0 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74507186 74507186 + Nonsense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr1:74507186C>A uc001dfy.3 - 7 1621 c.1429G>T c.(1429-1431)GAG>TAG p.E477* LRRIQ3_uc001dfz.3_Intron NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 477 ovary(2) 2 TGAATTGTCTCTTTATTTTCT 0.338 NA 84 136 7.63e-38 1.1e-37 1 0 C1orf173 127254 broad.mit.edu 37 1 75078365 75078365 + Nonsense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr1:75078365C>A uc001dgg.2 - 9 1348 c.1129G>T c.(1129-1131)GGA>TGA p.G377* uc001dgh.2_Intron|C1orf173_uc001dgi.3_Nonsense_Mutation_p.G171* NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 377 ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 CGTTTGCCTCCAAGCCTGGAA 0.458 NA 28 53 3.73e-12 4.56e-12 1 0 ACADM 34 broad.mit.edu 37 1 76211507 76211507 + Missense_Mutation SNP C C T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr1:76211507C>T uc001dgw.3 + 8 1046 c.616C>T c.(616-618)CGT>TGT p.R206C ACADM_uc010ord.1_Missense_Mutation_p.R120C|ACADM_uc009wbp.2_Missense_Mutation_p.R210C|ACADM_uc009wbr.2_Missense_Mutation_p.R239C|ACADM_uc010ore.1_Missense_Mutation_p.R170C|ACADM_uc010orf.1_Missense_Mutation_p.R17C|ACADM_uc001dgx.3_Missense_Mutation_p.R120C|ACADM_uc010org.1_Missense_Mutation_p.R76C|ACADM_uc009wbs.1_RNA NM_000016 NP_000007 P11310 ACADM_HUMAN medium-chain acyl-CoA dehydrogenase isoform a 206 R -> L (in ACADMD). carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process mitochondrial matrix flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity breast(2)|ovary(1)|skin(1) 4 TTTATTGGCACGTTCTGATCC 0.353 NA 43 81 0 0 0 0 MSH4 4438 broad.mit.edu 37 1 76365379 76365379 + Silent SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr1:76365379G>T uc001dhd.1 + 19 2648 c.2607G>T c.(2605-2607)ACG>ACT p.T869T NM_002440 NP_002431 O15457 MSH4_HUMAN mutS homolog 4 869 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding lung(3)|ovary(2) 5 CTCAAATTACGAGACAAATTT 0.279 NA MMR 49 57 2.43e-25 3.34e-25 1 0 ST6GALNAC3 256435 broad.mit.edu 37 1 76877870 76877870 + Missense_Mutation SNP A A T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr1:76877870A>T uc001dhh.2 + 3 554 c.391A>T c.(391-393)ACC>TCC p.T131S ST6GALNAC3_uc001dhg.3_Missense_Mutation_p.T131S|ST6GALNAC3_uc010orh.1_Missense_Mutation_p.T66S NM_152996 NP_694541 Q8NDV1 SIA7C_HUMAN sialyltransferase 7C isoform 1 131 Lumenal (Potential). protein glycosylation integral to Golgi membrane sialyltransferase activity ovary(3)|skin(2) 5 TGTGTCCCATACCAGCGTTCC 0.423 NA 69 75 0 0 0 0 DPYD 1806 broad.mit.edu 37 1 97658799 97658799 + Silent SNP G G A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr1:97658799G>A uc001drv.2 - 20 2585 c.2448C>T c.(2446-2448)TGC>TGT p.C816C NM_000110 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase isoform 1 816 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity ovary(3)|skin(3)|breast(2) 8 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) GAATGGCACTGCATACCTAGA 0.358 NA 14 26 0 0 0 0 VCAM1 7412 broad.mit.edu 37 1 101197026 101197026 + Missense_Mutation SNP G G C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr1:101197026G>C uc001dti.2 + 6 1597 c.1477G>C c.(1477-1479)GAA>CAA p.E493Q VCAM1_uc001dtj.2_Missense_Mutation_p.E401Q|VCAM1_uc010ouj.1_Missense_Mutation_p.E431Q NM_001078 NP_001069 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 isoform a 493 Ig-like C2-type 5.|Extracellular (Potential). heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(1) 1 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) TGATGACATGGAATTCGAACC 0.373 NA 37 70 0 0 0 0 COL11A1 1301 broad.mit.edu 37 1 103431074 103431074 + Missense_Mutation SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr1:103431074G>T uc001dul.2 - 38 3203 c.2885C>A c.(2884-2886)CCT>CAT p.P962H COL11A1_uc001duk.2_Missense_Mutation_p.P158H|COL11A1_uc001dum.2_Missense_Mutation_p.P974H|COL11A1_uc001dun.2_Missense_Mutation_p.P923H|COL11A1_uc009weh.2_Missense_Mutation_p.P846H NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 962 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TGGCCCAGGAGGGCCGGTCTT 0.388 NA 80 158 3.24e-39 4.7e-39 1 0 SYPL2 284612 broad.mit.edu 37 1 110022063 110022063 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr1:110022063C>A uc001dxp.2 + 6 1078 c.712C>A c.(712-714)CCG>ACG p.P238T SYPL2_uc010ovk.1_Missense_Mutation_p.P174T NM_001040709 NP_001035799 Q5VXT5 SYPL2_HUMAN mitsugumin 29 238 Cytoplasmic (Potential).|MARVEL. integral to membrane|synaptic vesicle transporter activity ovary(1) 1 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231) CAAGGAGACCCCGTGGCATGG 0.408 NA 37 85 9.46e-24 1.29e-23 1 0 ADORA3 140 broad.mit.edu 37 1 112028408 112028408 + Silent SNP T T G rs145936359 TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr1:112028408T>G uc001ebf.2 - 5 1694 c.927A>C c.(925-927)GTA>GTC p.V309V ADORA3_uc001ebg.3_Silent_p.V228V NM_020683 NP_065734 P33765 AA3R_HUMAN adenosine A3 receptor isoform 1 Error:Variant_position_missing_in_P33765_after_alignment activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction integral to plasma membrane adenosine receptor activity, G-protein coupled ovary(2)|large_intestine(1)|skin(1) 4 all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156) all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134) Adenosine(DB00640)|Aminophylline(DB01223) AATGACTGATTACAGAGATGA 0.433 NA 57 68 0 0 0 0 NOTCH2NL 388677 broad.mit.edu 37 1 145273312 145273312 + Missense_Mutation SNP G G C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr1:145273312G>C uc001emn.3 + 3 536 c.166G>C c.(166-168)GGG>CGG p.G56R NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_5'UTR|NOTCH2NL_uc001emm.3_Missense_Mutation_p.G56R|NOTCH2NL_uc001emo.2_Missense_Mutation_p.G56R|NOTCH2NL_uc010oyh.1_RNA NM_203458 NP_982283 Q7Z3S9 NT2NL_HUMAN Notch homolog 2 N-terminal like protein 56 EGF-like 2. cell differentiation|multicellular organismal development|Notch signaling pathway cytoplasm|extracellular region calcium ion binding ovary(1) 1 ATGTGCCTCAGGGTTTACAGG 0.567 NA 55 414 0 0 0 0 PRUNE 58497 broad.mit.edu 37 1 151001309 151001309 + Silent SNP C C T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr1:151001309C>T uc001ewh.1 + 7 958 c.822C>T c.(820-822)TGC>TGT p.C274C PRUNE_uc001ewi.1_Silent_p.C92C|PRUNE_uc010pco.1_Silent_p.C42C|PRUNE_uc001ewj.1_Intron|PRUNE_uc001ewk.1_Intron NM_021222 NP_067045 Q86TP1 PRUNE_HUMAN prune 274 cytoplasm|focal adhesion|nucleus inorganic diphosphatase activity|manganese ion binding|protein binding ovary(1) 1 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) ATGCTTTCTGCCAGGCTCACA 0.483 NA 4 167 0 0 0 0 IVL 3713 broad.mit.edu 37 1 152883976 152883976 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr1:152883976C>A uc001fau.2 + 2 1749 c.1703C>A c.(1702-1704)CCT>CAT p.P568H NM_005547 NP_005538 P07476 INVO_HUMAN involucrin 568 isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B cornified envelope|cytoplasm protein binding, bridging|structural molecule activity ovary(3) 3 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GTATTGCTTCCTGTAGAGCAC 0.488 NA 65 87 4.66e-34 6.64e-34 1 0 DCAF8 50717 broad.mit.edu 37 1 160249948 160249948 + Missense_Mutation SNP A A G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr1:160249948A>G uc010pjc.1 - 4 514 c.242T>C c.(241-243)ATA>ACA p.I81T PEX19_uc010pje.1_RNA|PEX19_uc001fvs.2_Missense_Mutation_p.I228T|PEX19_uc001fvt.2_Missense_Mutation_p.I138T NM_015726 NP_056541 Q5TAQ9 DCAF8_HUMAN DDB1 and CUL4 associated factor 8 Error:Variant_position_missing_in_Q5TAQ9_after_alignment CUL4 RING ubiquitin ligase complex protein binding skin(2) 2 CTGCTCACATATTTTGCACAT 0.468 NA 137 208 0 0 0 0 LMX1A 4009 broad.mit.edu 37 1 165218667 165218667 + Silent SNP C C T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr1:165218667C>T uc001gcy.1 - 3 695 c.474G>A c.(472-474)GTG>GTA p.V158V LMX1A_uc001gcz.1_Silent_p.V158V NM_177398 NP_796372 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 158 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(3)|upper_aerodigestive_tract(1)|pancreas(1) 5 all_hematologic(923;0.248) CTGCTGGGCTCACCAGGCTGA 0.612 NA 21 67 0 0 0 0 F5 2153 broad.mit.edu 37 1 169510646 169510646 + Nonsense_Mutation SNP G G A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr1:169510646G>A uc001ggg.1 - 13 3827 c.3682C>T c.(3682-3684)CAG>TAG p.Q1228* NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 1228 2-5.|35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) ATGGGCATCTGACCGAGGGCT 0.527 NA 177 243 0 0 0 0 SELL 6402 broad.mit.edu 37 1 169672410 169672410 + Missense_Mutation SNP C C G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr1:169672410C>G uc001ggk.2 - 6 1136 c.938G>C c.(937-939)AGT>ACT p.S313T C1orf112_uc001ggj.2_Intron|SELL_uc010pls.1_Missense_Mutation_p.S266T|SELL_uc001ggl.1_Missense_Mutation_p.S326T NM_000655 NP_000646 P14151 LYAM1_HUMAN selectin L precursor 313 Extracellular (Potential).|Sushi 2. blood coagulation|cell adhesion|leukocyte migration|regulation of immune response integral to plasma membrane glycosphingolipid binding|heparin binding|protease binding|sugar binding 0 all_hematologic(923;0.208) ACATATTGGACTAGGATTTGA 0.383 NA 12 20 0 0 0 0 ANKRD45 339416 broad.mit.edu 37 1 173579330 173579330 + Missense_Mutation SNP A A G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr1:173579330A>G uc001gja.1 - 6 816 c.755T>C c.(754-756)GTA>GCA p.V252A NM_198493 NP_940895 Q5TZF3 ANR45_HUMAN ankyrin repeat domain 45 268 0 ATGGCTTGTTACAGATTTGGC 0.338 NA 54 113 0 0 0 0 NPHS2 7827 broad.mit.edu 37 1 179533895 179533895 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr1:179533895C>A uc001gmq.3 - 2 393 c.308G>T c.(307-309)TGG>TTG p.W103L NPHS2_uc009wxi.2_Missense_Mutation_p.W103L NM_014625 NP_055440 Q9NP85 PODO_HUMAN podocin 103 excretion integral to plasma membrane protein binding 0 GACAAGAAGCCACTCACAGGC 0.403 NA 28 40 8.25e-16 1.05e-15 1 0 RGS21 431704 broad.mit.edu 37 1 192321323 192321323 + Nonsense_Mutation SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr1:192321323G>T uc001gsh.2 + 4 409 c.235G>T c.(235-237)GAA>TAA p.E79* NM_001039152 NP_001034241 Q2M5E4 RGS21_HUMAN regulator of G-protein signaling 21 79 RGS. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(1)|skin(1) 2 TGAATTCATTGAAGCTGATGC 0.383 NA 14 34 2.32e-09 2.73e-09 1 0 CFHR5 81494 broad.mit.edu 37 1 196965026 196965026 + Missense_Mutation SNP G G A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr1:196965026G>A uc001gts.3 + 5 915 c.787G>A c.(787-789)GTT>ATT p.V263I NM_030787 NP_110414 Q9BXR6 FHR5_HUMAN complement factor H-related 5 precursor 263 Sushi 4. complement activation, alternative pathway extracellular region breast(1)|skin(1) 2 ACCCACTTGTGTTGGTAAATA 0.289 NA 28 35 0 0 0 0 PFKFB2 5208 broad.mit.edu 37 1 207235301 207235301 + Missense_Mutation SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr1:207235301G>T uc001hfg.2 + 3 198 c.89G>T c.(88-90)TGG>TTG p.W30L PFKFB2_uc010psc.1_5'UTR|PFKFB2_uc001hfh.2_Missense_Mutation_p.W30L|PFKFB2_uc009xcc.2_5'UTR NM_006212 NP_006203 O60825 F262_HUMAN 6-phosphofructo-2-kinase/fructose-2, 30 6-phosphofructo-2-kinase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity ovary(1) 1 Prostate(682;0.19) CTTCTAGCATGGGCCTCCTAC 0.353 NA 54 107 5.11e-33 7.22e-33 1 0 USH2A 7399 broad.mit.edu 37 1 215931940 215931940 + Missense_Mutation SNP G G C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr1:215931940G>C uc001hku.1 - 58 11773 c.11386C>G c.(11386-11388)CCA>GCA p.P3796A NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 3796 Fibronectin type-III 23.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TTTTTACCTGGTGGTATCCAA 0.299 NA HNSCC(13;0.011) 60 92 0 0 0 0 USH2A 7399 broad.mit.edu 37 1 216373451 216373451 + Missense_Mutation SNP A A G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr1:216373451A>G uc001hku.1 - 17 3716 c.3329T>C c.(3328-3330)TTC>TCC p.F1110S USH2A_uc001hkv.2_Missense_Mutation_p.F1110S NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1110 Extracellular (Potential).|Fibronectin type-III 1. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TGTGTCTAAGAAGTATTGAAT 0.328 NA HNSCC(13;0.011) 29 46 0 0 0 0 LEFTY2 7044 broad.mit.edu 37 1 226127684 226127684 + Missense_Mutation SNP A A T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr1:226127684A>T uc001hpt.1 - 2 349 c.269T>A c.(268-270)CTG>CAG p.L90Q LEFTY2_uc010pvk.1_Missense_Mutation_p.L90Q|LEFTY2_uc009xek.1_Intron NM_003240 NP_003231 O00292 LFTY2_HUMAN endometrial bleeding associated factor 90 cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway extracellular space|platelet alpha granule lumen cytokine activity|growth factor activity|transforming growth factor beta receptor binding 0 Breast(184;0.197) CTCCGACGCCAGGAACCTGCC 0.697 NA 9 18 0 0 0 0 PGBD5 79605 broad.mit.edu 37 1 230472906 230472906 + Missense_Mutation SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr1:230472906G>T uc010pwb.1 - 4 816 c.816C>A c.(814-816)TTC>TTA p.F272L PGBD5_uc001htv.2_Missense_Mutation_p.F371L NM_024554 NP_078830 Q8N414 PGBD5_HUMAN piggyBac transposable element derived 5 272 integral to membrane ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(184;0.0397) Prostate(94;0.167) GBM - Glioblastoma multiforme(131;0.201) TGGGCCCCGTGAAAATGATGT 0.597 NA 43 64 4.44e-20 5.89e-20 1 0 TBCE 6905 broad.mit.edu 37 1 235600733 235600733 + Missense_Mutation SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr1:235600733G>T uc001hwz.1 + 12 1183 c.1060G>T c.(1060-1062)GCG>TCG p.A354S TBCE_uc010pxq.1_RNA|TBCE_uc001hxa.1_Missense_Mutation_p.A354S|TBCE_uc010pxr.1_Missense_Mutation_p.A405S|TBCE_uc001hxb.1_Missense_Mutation_p.A241S NM_003193 NP_003184 Q15813 TBCE_HUMAN beta-tubulin cofactor E 354 LRRCT. 'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway cytoplasm|microtubule|nucleus|plasma membrane chaperone binding 0 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238) OV - Ovarian serous cystadenocarcinoma(106;2.56e-05) AGCAGAGACGGCGCGACTACT 0.468 NA 52 67 1.86e-20 2.47e-20 1 0 RYR2 6262 broad.mit.edu 37 1 237947941 237947941 + Missense_Mutation SNP G G A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr1:237947941G>A uc001hyl.1 + 90 13049 c.12929G>A c.(12928-12930)TGC>TAC p.C4310Y RYR2_uc010pya.1_Missense_Mutation_p.C725Y NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4310 Helical; Name=M4; (Potential). cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CGCATCATTTGCAGCCTGCTG 0.498 NA 28 53 0 0 0 0 PLD5 200150 broad.mit.edu 37 1 242451748 242451748 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr1:242451748C>A uc001hzn.1 - 3 538 c.411G>T c.(409-411)ATG>ATT p.M137I PLD5_uc001hzl.3_Missense_Mutation_p.M75I|PLD5_uc001hzm.3_Intron|PLD5_uc001hzo.1_Missense_Mutation_p.M45I Q8N7P1 PLD5_HUMAN RecName: Full=Inactive phospholipase D5; Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc; 137 integral to membrane catalytic activity ovary(6) 6 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) TGAGTAAATTCATCCAGCCTT 0.403 NA 37 57 7.61e-30 1.06e-29 1 0 OR2W5 441932 broad.mit.edu 37 1 247655010 247655010 + Missense_Mutation SNP T T C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr1:247655010T>C uc001icz.1 + 1 581 c.581T>C c.(580-582)CTG>CCG p.L194P NM_001004698 NP_001004698 A6NFC9 OR2W5_HUMAN olfactory receptor, family 2, subfamily W, 194 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|skin(1) 3 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) GAAACCATGCTGGTAGAAGCG 0.592 NA 98 134 0 0 0 0 OR2T33 391195 broad.mit.edu 37 1 248436753 248436753 + Missense_Mutation SNP C C T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr1:248436753C>T uc010pzi.1 - 1 364 c.364G>A c.(364-366)GCG>ACG p.A122T NM_001004695 NP_001004695 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, 122 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CAGACAGCCGCATAGCGGTCA 0.612 NA 16 62 0 0 0 0 OR2T33 391195 broad.mit.edu 37 1 248436759 248436759 + Missense_Mutation SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr1:248436759G>T uc010pzi.1 - 1 358 c.358C>A c.(358-360)CGC>AGC p.R120S NM_001004695 NP_001004695 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, 120 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GCCGCATAGCGGTCATAGGCC 0.592 NA 18 60 6.34e-27 8.77e-27 1 0 OR2M7 391196 broad.mit.edu 37 1 248487331 248487331 + Missense_Mutation SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr1:248487331G>T uc010pzk.1 - 1 540 c.540C>A c.(538-540)GAC>GAA p.D180E NM_001004691 NP_001004691 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, 180 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GGGAAGGGAAGTCACAGCAGA 0.438 NA 97 230 1.01e-60 1.5e-60 1 0 OR2T6 254879 broad.mit.edu 37 1 248551581 248551581 + Silent SNP A A T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr1:248551581A>T uc001iei.1 + 1 672 c.672A>T c.(670-672)ACA>ACT p.T224T NM_001005471 NP_001005471 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, 224 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TTCTCATCACAGTGCATCAGA 0.498 NA 75 63 0 0 0 0 SLC39A12 221074 broad.mit.edu 37 10 18254530 18254530 + Missense_Mutation SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr10:18254530G>T uc001ipo.2 + 4 935 c.662G>T c.(661-663)TGT>TTT p.C221F SLC39A12_uc001ipn.2_Missense_Mutation_p.C221F|SLC39A12_uc001ipp.2_Missense_Mutation_p.C221F|SLC39A12_uc010qck.1_Missense_Mutation_p.C87F NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), 221 Helical; (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1)|breast(1) 2 CAGGGTGTTTGTCTGGGACAA 0.443 NA 48 51 2.08e-19 2.74e-19 1 0 PTF1A 256297 broad.mit.edu 37 10 23482812 23482812 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr10:23482812C>A uc001irp.2 + 2 964 c.964C>A c.(964-966)CCA>ACA p.P322T NM_178161 NP_835455 Q7RTS3 PTF1A_HUMAN pancreas specific transcription factor, 1a 322 endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent cytoplasm|transcription factor complex pancreas(1)|skin(1) 2 AGAAAACGAACCACCATTTGA 0.398 NA 57 113 9.16e-17 1.18e-16 1 0 KIAA1217 56243 broad.mit.edu 37 10 24802317 24802317 + Nonsense_Mutation SNP A A T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr10:24802317A>T uc001iru.3 + 10 2534 c.2131A>T c.(2131-2133)AGA>TGA p.R711* KIAA1217_uc001irs.2_Nonsense_Mutation_p.R631*|KIAA1217_uc001irt.3_Nonsense_Mutation_p.R676*|KIAA1217_uc010qcy.1_Nonsense_Mutation_p.R676*|KIAA1217_uc010qcz.1_Nonsense_Mutation_p.R676*|KIAA1217_uc001irv.1_Nonsense_Mutation_p.R526*|KIAA1217_uc010qda.1_RNA|KIAA1217_uc001irw.2_Nonsense_Mutation_p.R394*|KIAA1217_uc001irz.2_Nonsense_Mutation_p.R394*|KIAA1217_uc001irx.2_Nonsense_Mutation_p.R394*|KIAA1217_uc001iry.2_Nonsense_Mutation_p.R394* NM_019590 NP_062536 Q5T5P2 SKT_HUMAN sickle tail isoform 1 711 embryonic skeletal system development cytoplasm ovary(5)|skin(2) 7 GGAGCAAGAGAGACAAAAATA 0.473 NA OREG0020076 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 53 0 0 0 0 GPR158 57512 broad.mit.edu 37 10 25883321 25883322 + Missense_Mutation DNP CC CC AA TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr10:25883321_25883322CC>AA uc001isj.2 + 9 2053_2054 c.1993_1994CC>AA c.(1993-1995)CCA>AAA p.P665K GPR158_uc001isk.2_Missense_Mutation_p.P40K NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 665 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 GCTTTTGATTCCAAAGGTATTC 0.337 NA 44 98 0 0 0 0 ARMC4 55130 broad.mit.edu 37 10 28284017 28284017 + Nonsense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr10:28284017C>A uc009xky.2 - 2 153 c.55G>T c.(55-57)GGA>TGA p.G19* ARMC4_uc001itz.2_Nonsense_Mutation_p.G19* NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 19 binding ovary(4)|skin(2) 6 TCGAGGATTCCAGTTCCATGT 0.453 NA 33 48 1.46e-13 1.81e-13 1 0 HNRNPF 3185 broad.mit.edu 37 10 43882406 43882406 + Silent SNP G G A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr10:43882406G>A uc009xmh.1 - 3 1414 c.927C>T c.(925-927)TTC>TTT p.F309F HNRNPF_uc001jar.2_Silent_p.F309F|HNRNPF_uc001jas.2_Silent_p.F309F|HNRNPF_uc001jat.2_Silent_p.F309F|HNRNPF_uc001jav.2_Silent_p.F309F|HNRNPF_uc001jau.2_Silent_p.F309F|uc010qfa.1_Missense_Mutation_p.E30K NM_001098208 NP_001091678 P52597 HNRPF_HUMAN heterogeneous nuclear ribonucleoprotein F 309 RRM 3. regulation of RNA splicing catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding 0 TGAGAGGAGAGAAGAAGTTGT 0.522 NA 55 69 0 0 0 0 ALOX5 240 broad.mit.edu 37 10 45941034 45941034 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr10:45941034C>A uc001jce.2 + 14 2023 c.1924C>A c.(1924-1926)CTC>ATC p.L642I ALOX5_uc009xmt.2_Missense_Mutation_p.L610I|ALOX5_uc010qfg.1_Missense_Mutation_p.L585I NM_000698 NP_000689 P09917 LOX5_HUMAN arachidonate 5-lipoxygenase 642 Lipoxygenase. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding ovary(1)|pancreas(1) 2 Lung SC(717;0.0257) Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744) CCGCAAGAACCTCGAGGCCAT 0.542 NA 47 83 2.43e-25 3.34e-25 1 0 DKK1 22943 broad.mit.edu 37 10 54074250 54074250 + Missense_Mutation SNP C C T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr10:54074250C>T uc001jjr.2 + 1 210 c.56C>T c.(55-57)GCG>GTG p.A19V uc001jjq.1_5'Flank|uc009xox.1_5'Flank NM_012242 NP_036374 O94907 DKK1_HUMAN dickkopf homolog 1 precursor 19 negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization extracellular space|plasma membrane growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity ovary(1)|lung(1)|kidney(1) 3 ATGGTAGCGGCGGCTCTCGGC 0.607 NA OREG0020191 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 32 67 0 0 0 0 PCDH15 65217 broad.mit.edu 37 10 56106124 56106124 + Splice_Site SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr10:56106124C>A uc001jju.1 - 6 989 c.594_splice c.e6+1 p.P198_splice PCDH15_uc010qhq.1_Splice_Site_p.P203_splice|PCDH15_uc010qhr.1_Splice_Site_p.P198_splice|PCDH15_uc010qhs.1_Splice_Site_p.P203_splice|PCDH15_uc010qht.1_Splice_Site_p.P198_splice|PCDH15_uc010qhu.1_Splice_Site_p.P198_splice|PCDH15_uc001jjv.1_Splice_Site_p.P176_splice|PCDH15_uc010qhv.1_Splice_Site_p.P198_splice|PCDH15_uc010qhw.1_Splice_Site_p.P198_splice|PCDH15_uc010qhx.1_Splice_Site_p.P198_splice|PCDH15_uc010qhy.1_Splice_Site_p.P203_splice|PCDH15_uc010qhz.1_Splice_Site_p.P198_splice|PCDH15_uc010qia.1_Splice_Site_p.P176_splice|PCDH15_uc010qib.1_Splice_Site_p.P176_splice|PCDH15_uc001jjw.2_Splice_Site_p.P198_splice NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 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) TATTTACATACCGGATCATCT 0.308 NA HNSCC(58;0.16) 40 59 8.16e-20 1.08e-19 1 0 IPMK 253430 broad.mit.edu 37 10 59955934 59955934 + Missense_Mutation SNP T T C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr10:59955934T>C uc001jkb.2 - 6 1477 c.1154A>G c.(1153-1155)GAT>GGT p.D385G NM_152230 NP_689416 Q8NFU5 IPMK_HUMAN inositol polyphosphate multikinase 385 nucleus ATP binding|inositol trisphosphate 6-kinase activity ovary(1) 1 ATGAGCAAAATCTATCATTCG 0.363 NA 95 143 0 0 0 0 LRIT1 26103 broad.mit.edu 37 10 85992071 85992071 + Missense_Mutation SNP A A G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr10:85992071A>G uc001kcz.1 - 4 1506 c.1484T>C c.(1483-1485)GTG>GCG p.V495A NM_015613 NP_056428 Q9P2V4 LRIT1_HUMAN retina specific protein PAL 495 Fibronectin type-III.|Lumenal (Potential). integral to endoplasmic reticulum membrane 0 GACACACGCCACATACTTGGT 0.567 NA 14 29 0 0 0 0 LRIT1 26103 broad.mit.edu 37 10 85992310 85992310 + Silent SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr10:85992310C>A uc001kcz.1 - 4 1267 c.1245G>T c.(1243-1245)CTG>CTT p.L415L NM_015613 NP_056428 Q9P2V4 LRIT1_HUMAN retina specific protein PAL 415 Lumenal (Potential). integral to endoplasmic reticulum membrane 0 AGAGCTCTCCCAGGGCATCCA 0.607 NA 48 90 4.86e-25 6.65e-25 1 0 KIF20B 9585 broad.mit.edu 37 10 91479299 91479299 + Missense_Mutation SNP A A C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr10:91479299A>C uc001kgs.1 + 13 1630 c.1558A>C c.(1558-1560)ATT>CTT p.I520L KIF20B_uc001kgr.1_Missense_Mutation_p.I520L NM_016195 NP_057279 Q96Q89 KI20B_HUMAN M-phase phosphoprotein 1 520 cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding ovary(1)|pancreas(1)|skin(1) 3 AAGAGCCACCATTTCATGGGA 0.343 NA 21 35 0 0 0 0 ZNF518A 9849 broad.mit.edu 37 10 97918677 97918677 + Silent SNP A A T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr10:97918677A>T uc001klp.2 + 6 3455 c.2598A>T c.(2596-2598)TCA>TCT p.S866S ZNF518A_uc001klo.1_Silent_p.S336S|ZNF518A_uc001klq.2_Silent_p.S866S|ZNF518A_uc001klr.2_Silent_p.S866S NM_014803 NP_055618 Q6AHZ1 Z518A_HUMAN zinc finger protein 518 866 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(252;0.0815) Epithelial(162;4.23e-08)|all cancers(201;1.85e-06) AACAAGTGTCATCAATACCAC 0.393 NA 33 45 0 0 0 0 SFXN2 118980 broad.mit.edu 37 10 104486494 104486494 + Missense_Mutation SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr10:104486494G>T uc001kwb.2 + 2 267 c.101G>T c.(100-102)CGC>CTC p.R34L SFXN2_uc001kwc.2_RNA|SFXN2_uc001kwd.2_RNA NM_178858 NP_849189 Q96NB2 SFXN2_HUMAN sideroflexin 2 34 iron ion homeostasis integral to membrane cation transmembrane transporter activity 0 Colorectal(252;0.207) Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218) ACGGACCCCCGCACTGTCTTT 0.587 NA 47 87 1.19e-25 1.65e-25 1 0 ATRNL1 26033 broad.mit.edu 37 10 117075091 117075091 + Missense_Mutation SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr10:117075091G>T uc001lcg.2 + 18 3268 c.2882G>T c.(2881-2883)TGC>TTC p.C961F ATRNL1_uc010qsm.1_Missense_Mutation_p.C136F|ATRNL1_uc010qsn.1_RNA NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 961 PSI 5.|Extracellular (Potential). integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) TGTGGCTGGTGCAATGATCCT 0.443 NA 30 70 1.27e-14 1.59e-14 1 0 PDZD8 118987 broad.mit.edu 37 10 119044034 119044034 + Missense_Mutation SNP T T C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr10:119044034T>C uc001lde.1 - 5 2409 c.2210A>G c.(2209-2211)GAA>GGA p.E737G NM_173791 NP_776152 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 737 intracellular signal transduction metal ion binding 0 Colorectal(252;0.19) all cancers(201;0.0121) AGCCACATCTTCAAGTTTTAA 0.448 NA 55 54 0 0 0 0 GPR123 84435 broad.mit.edu 37 10 134885501 134885501 + Missense_Mutation SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr10:134885501G>T uc001llw.2 + 2 260 c.260G>T c.(259-261)TGG>TTG p.W87L Q86SQ6 GP123_HUMAN RecName: Full=Probable G-protein coupled receptor 123; Error:Variant_position_missing_in_Q86SQ6_after_alignment integral to membrane|plasma membrane G-protein coupled receptor activity 0 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) TCATGGGCGTGGGTCTTCAGA 0.652 NA 3 5 0.004672 0.00491766 1 0 OR51L1 119682 broad.mit.edu 37 11 5020434 5020434 + Silent SNP G G C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr11:5020434G>C uc010qyu.1 + 1 222 c.222G>C c.(220-222)GGG>GGC p.G74G NM_001004755 NP_001004755 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, 74 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) ATGACCTGGGGATGTCCCTGT 0.458 NA 96 169 0 0 0 0 OR52N5 390075 broad.mit.edu 37 11 5799430 5799430 + Silent SNP G G C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr11:5799430G>C uc010qzn.1 - 1 435 c.435C>G c.(433-435)CTC>CTG p.L145L TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron NM_001001922 NP_001001922 Q8NH56 O52N5_HUMAN olfactory receptor, family 52, subfamily N, 145 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) TAGGGTTGGTGAGTGTGGTAG 0.507 NA 61 66 0 0 0 0 NLRP14 338323 broad.mit.edu 37 11 7079072 7079072 + Missense_Mutation SNP G G C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr11:7079072G>C uc001mfb.1 + 7 2779 c.2456G>C c.(2455-2457)AGA>ACA p.R819T NM_176822 NP_789792 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 819 LRR 4. cell differentiation|multicellular organismal development|spermatogenesis ATP binding ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1) 8 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) TATCTAGAGAGACTGTCGTGA 0.408 NA 46 102 0 0 0 0 RPS13 6207 broad.mit.edu 37 11 17095985 17095985 + Missense_Mutation SNP C C G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr11:17095985C>G uc001mmp.2 - 6 483 c.451G>C c.(451-453)GCA>CCA p.A151P NM_001017 NP_001008 P62277 RS13_HUMAN ribosomal protein S13 151 endocrine pancreas development|negative regulation of RNA splicing|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleolus mRNA binding|protein binding|structural constituent of ribosome 0 CAAATTTATGCGACCAGGGCA 0.318 NA 17 37 0 0 0 0 SLC17A6 57084 broad.mit.edu 37 11 22363186 22363186 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr11:22363186C>A uc001mqk.2 + 2 612 c.199C>A c.(199-201)CTG>ATG p.L67M NM_020346 NP_065079 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (sodium-dependent 67 Cytoplasmic (Potential). sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3)|breast(1) 4 GTGCTTCGGCCTGCCCCGCCG 0.627 NA 19 21 2.89e-11 3.47e-11 1 0 BDNF 627 broad.mit.edu 37 11 27679873 27679873 + Missense_Mutation SNP T T C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr11:27679873T>C uc010rdu.1 - 2 1090 c.239A>G c.(238-240)AAT>AGT p.N80S BDNFOS_uc001mrm.2_RNA|BDNFOS_uc009yij.2_RNA|BDNFOS_uc009yik.2_RNA|BDNFOS_uc009yil.2_RNA|BDNFOS_uc001mrp.2_RNA|BDNFOS_uc009yim.2_RNA|BDNFOS_uc009yin.2_RNA|BDNFOS_uc009yio.2_RNA|BDNFOS_uc009yip.2_RNA|BDNFOS_uc001mrn.2_RNA|BDNFOS_uc009yiq.2_RNA|BDNFOS_uc001mro.2_RNA|BDNFOS_uc009yir.2_RNA|BDNFOS_uc009yis.2_Intron|BDNFOS_uc009yit.2_RNA|BDNFOS_uc009yiu.2_RNA|BDNFOS_uc009yiv.2_RNA|BDNFOS_uc009yiw.2_RNA|BDNFOS_uc009yix.2_RNA|BDNFOS_uc009yiy.2_RNA|BDNFOS_uc009yiz.2_RNA|BDNFOS_uc001mrq.3_RNA|BDNFOS_uc001mrr.3_RNA|BDNFOS_uc009yja.2_RNA|BDNFOS_uc009yjb.2_RNA|BDNF_uc010rdv.1_Missense_Mutation_p.N80S|BDNF_uc001mrt.2_Missense_Mutation_p.N95S|BDNF_uc010rdw.1_Missense_Mutation_p.N80S|BDNF_uc009yjd.2_Missense_Mutation_p.N80S|BDNF_uc001mru.2_Missense_Mutation_p.N80S|BDNF_uc010rdx.1_Missense_Mutation_p.N80S|BDNF_uc010rdy.1_Missense_Mutation_p.N80S|BDNF_uc009yjg.2_Missense_Mutation_p.N80S|BDNF_uc009yje.2_Missense_Mutation_p.N162S|BDNF_uc009yjf.2_Missense_Mutation_p.N109S|BDNF_uc001mrv.2_Missense_Mutation_p.N80S|BDNF_uc001mrw.3_Missense_Mutation_p.N80S|BDNF_uc001mrx.2_Missense_Mutation_p.N80S|BDNF_uc001mry.3_Missense_Mutation_p.N80S|BDNF_uc001mrz.3_Missense_Mutation_p.N80S|BDNF_uc001msa.2_Missense_Mutation_p.N88S NM_001143816 NP_001137288 P23560 BDNF_HUMAN brain-derived neurotrophic factor isoform a 80 extracellular region growth factor activity 0 GTTTTCTTCATTGGGCCGAAC 0.493 NA 116 149 0 0 0 0 HIPK3 10114 broad.mit.edu 37 11 33358705 33358705 + Nonsense_Mutation SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr11:33358705G>T uc001mul.1 + 4 1576 c.1306G>T c.(1306-1308)GAA>TAA p.E436* HIPK3_uc001mum.1_Nonsense_Mutation_p.E436*|HIPK3_uc009yjv.1_Nonsense_Mutation_p.E436*|HIPK3_uc009yjw.1_RNA NM_005734 NP_005725 Q9H422 HIPK3_HUMAN homeodomain interacting protein kinase 3 isoform 436 Protein kinase. anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm ATP binding|protein serine/threonine kinase activity large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1) 5 TTTTTGCAAAGAAACAGATAT 0.313 NA 24 30 4.27e-12 5.2e-12 1 0 OR4C13 283092 broad.mit.edu 37 11 49974253 49974253 + Silent SNP T T C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr11:49974253T>C uc010rhz.1 + 1 279 c.279T>C c.(277-279)AAT>AAC p.N93N NM_001001955 NP_001001955 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, 93 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(1) 4 TCTTATTCAATGGATGTATGA 0.418 NA 121 160 0 0 0 0 OR4A16 81327 broad.mit.edu 37 11 55110931 55110931 + Nonsense_Mutation SNP T T A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr11:55110931T>A uc010rie.1 + 1 255 c.255T>A c.(253-255)TGT>TGA p.C85* NM_001005274 NP_001005274 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, 85 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(2)|pancreas(1) 3 ACTTACTCTGTGATAAAATCG 0.448 NA 138 213 0 0 0 0 OR4A15 81328 broad.mit.edu 37 11 55135423 55135423 + Missense_Mutation SNP C C G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr11:55135423C>G uc010rif.1 + 1 64 c.64C>G c.(64-66)CTG>GTG p.L22V NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, 22 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GCTCCGACACCTGAGTCCAAC 0.413 NA 22 53 0 0 0 0 OR5D18 219438 broad.mit.edu 37 11 55587238 55587238 + Missense_Mutation SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr11:55587238G>T uc010rin.1 + 1 133 c.133G>T c.(133-135)GGG>TGG p.G45W NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, 45 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.208) AGGGAATATTGGGTTGATTGT 0.458 NA 123 144 1.06e-61 1.58e-61 1 0 OR5D16 390144 broad.mit.edu 37 11 55606809 55606809 + Silent SNP T T A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr11:55606809T>A uc010rio.1 + 1 582 c.582T>A c.(580-582)TCT>TCA p.S194S NM_001005496 NP_001005496 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, 194 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_epithelial(135;0.208) ACCCTGACTCTTATCTCAGCC 0.393 NA 68 117 0 0 0 0 OR5I1 10798 broad.mit.edu 37 11 55703661 55703661 + Missense_Mutation SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr11:55703661G>T uc010ris.1 - 1 216 c.216C>A c.(214-216)GAC>GAA p.D72E NM_006637 NP_006628 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, 72 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 AATAGCAAAGGTCTACAAATG 0.383 NA 29 39 3.74e-18 4.85e-18 1 0 OR5F1 338674 broad.mit.edu 37 11 55761243 55761243 + Missense_Mutation SNP G G A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr11:55761243G>A uc010riv.1 - 1 859 c.859C>T c.(859-861)CCT>TCT p.P287S NM_003697 NP_003688 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, 287 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Esophageal squamous(21;0.00448) TAGATCAGAGGATTCAACATG 0.438 NA 25 52 0 0 0 0 OR8K5 219453 broad.mit.edu 37 11 55927515 55927515 + Silent SNP G G C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr11:55927515G>C uc010rja.1 - 1 279 c.279C>G c.(277-279)TCC>TCG p.S93S NM_001004058 NP_001004058 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, 93 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) ATGCATAATAGGAAATAGTAT 0.398 NA 67 77 0 0 0 0 OR5M9 390162 broad.mit.edu 37 11 56230837 56230837 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr11:56230837C>A uc010rjj.1 - 1 41 c.41G>T c.(40-42)GGG>GTG p.G14V NM_001004743 NP_001004743 Q8NGP3 OR5M9_HUMAN olfactory receptor, family 5, subfamily M, 14 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Esophageal squamous(21;0.00448) ACAGGTCAGCCCCAGGAGAGT 0.413 NA 16 26 5.01e-05 5.45e-05 1 0 OR5AP2 338675 broad.mit.edu 37 11 56409494 56409494 + Missense_Mutation SNP A A T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr11:56409494A>T uc001njb.1 - 1 422 c.422T>A c.(421-423)CTC>CAC p.L141H NM_001002925 NP_001002925 Q8NGF4 O5AP2_HUMAN olfactory receptor, family 5, subfamily AP, 141 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 CCCAGACACGAGAACTGGGTA 0.483 NA 25 54 0 0 0 0 P2RX3 5024 broad.mit.edu 37 11 57118349 57118349 + Silent SNP C C T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr11:57118349C>T uc001nju.2 + 8 895 c.819C>T c.(817-819)AGC>AGT p.S273S NM_002559 NP_002550 P56373 P2RX3_HUMAN purinergic receptor P2X3 273 Extracellular (Potential). positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity 0 AGAAAAGCAGCGTGTCCCCAG 0.542 NA 49 68 0 0 0 0 SERPING1 710 broad.mit.edu 37 11 57379319 57379319 + Nonsense_Mutation SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr11:57379319G>T uc001nkp.1 + 7 1350 c.1159G>T c.(1159-1161)GAG>TAG p.E387* SERPING1_uc001nkq.1_Nonsense_Mutation_p.E350*|SERPING1_uc010rju.1_Nonsense_Mutation_p.E335*|SERPING1_uc010rjv.1_Nonsense_Mutation_p.E392*|SERPING1_uc001nkr.1_Nonsense_Mutation_p.E387*|SERPING1_uc009ymi.1_Nonsense_Mutation_p.E396*|SERPING1_uc009ymj.1_Intron|SERPING1_uc001nks.1_Nonsense_Mutation_p.E78* NM_000062 NP_000053 P05155 IC1_HUMAN serpin peptidase inhibitor, clade G, member 1 387 blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation extracellular space|platelet alpha granule lumen protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1) 1 GGAGAAACTGGAGATGTCCAA 0.502 NA Hereditary_Angioedema 58 104 1.73e-40 2.51e-40 1 0 OR1S2 219958 broad.mit.edu 37 11 57970930 57970930 + Missense_Mutation SNP A A G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr11:57970930A>G uc010rkb.1 - 1 724 c.724T>C c.(724-726)TCA>CCA p.S242P NM_001004459 NP_001004459 Q8NGQ3 OR1S2_HUMAN olfactory receptor, family 1, subfamily S, 242 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(21;0.0589) TGTGTGGATGATACTCCCAGG 0.453 NA 31 67 0 0 0 0 OR4D6 219983 broad.mit.edu 37 11 59224737 59224737 + Missense_Mutation SNP T T A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr11:59224737T>A uc010rku.1 + 1 304 c.304T>A c.(304-306)TTT>ATT p.F102I NM_001004708 NP_001004708 Q8NGJ1 OR4D6_HUMAN olfactory receptor, family 4, subfamily D, 102 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GGCACAGATCTTTTTCTTCCA 0.463 NA 116 155 0 0 0 0 VPS37C 55048 broad.mit.edu 37 11 60906239 60906239 + Silent SNP C C A rs144092595 by1000genomes TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr11:60906239C>A uc001nqv.1 - 2 123 c.63G>T c.(61-63)GCG>GCT p.A21A VPS37C_uc001nqw.1_Silent_p.A21A NM_017966 NP_060436 A5D8V6 VP37C_HUMAN vacuolar protein sorting 37C 21 cellular membrane organization|endosome transport|protein transport late endosome membrane 0 GCTGGTCAATCGCCTCCGAGT 0.552 NA 54 104 2.45e-32 3.45e-32 1 0 AHNAK 79026 broad.mit.edu 37 11 62299641 62299641 + Missense_Mutation SNP G G C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr11:62299641G>C uc001ntl.2 - 5 2548 c.2248C>G c.(2248-2250)CCC>GCC p.P750A AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 750 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) TTCATCTTGGGCATCTTCAAG 0.517 NA 152 263 0 0 0 0 GANAB 23193 broad.mit.edu 37 11 62398539 62398539 + Silent SNP G G A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr11:62398539G>A uc001nub.2 - 10 1146 c.1113C>T c.(1111-1113)TCC>TCT p.S371S GANAB_uc001nua.2_Silent_p.S393S|GANAB_uc001nuc.2_Silent_p.S274S|GANAB_uc010rma.1_Silent_p.S279S|GANAB_uc010rmb.1_Silent_p.S257S NM_198334 NP_938148 Q14697 GANAB_HUMAN neutral alpha-glucosidase AB isoform 2 371 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|Golgi apparatus|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding ovary(3)|central_nervous_system(1)|skin(1) 5 CATCAGAGATGGAGGGCCCCA 0.512 NA 173 225 0 0 0 0 STIP1 10963 broad.mit.edu 37 11 63967640 63967640 + Splice_Site SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr11:63967640G>T uc001nyk.1 + 10 1268 c.1121_splice c.e10-1 p.G374_splice STIP1_uc010rnb.1_Splice_Site_p.G350_splice NM_006819 NP_006810 P31948 STIP1_HUMAN stress-induced-phosphoprotein 1 axon guidance|response to stress Golgi apparatus|nucleus ovary(2)|liver(1) 3 TTCTTCCCCAGGGGACTATCC 0.498 NA 150 203 2.46e-106 3.73e-106 1 0 KAT5 10524 broad.mit.edu 37 11 65480261 65480261 + Missense_Mutation SNP A A G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr11:65480261A>G uc001ofi.2 + 3 354 c.104A>G c.(103-105)AAG>AGG p.K35R KAT5_uc001ofj.2_Missense_Mutation_p.K35R|KAT5_uc001ofk.2_Missense_Mutation_p.K68R|KAT5_uc010roo.1_Missense_Mutation_p.K68R|KAT5_uc001ofl.2_5'UTR NM_006388 NP_006379 Q92993 KAT5_HUMAN K(lysine) acetyltransferase 5 isoform 2 35 androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity 0 CTGAGCGTGAAGGACATCAGT 0.562 NA 39 78 0 0 0 0 ADRBK1 156 broad.mit.edu 37 11 67049153 67049153 + Silent SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr11:67049153G>T uc009yrn.1 + 10 1046 c.780G>T c.(778-780)GCG>GCT p.A260A ADRBK1_uc009yrm.1_Silent_p.A260A NM_001619 NP_001610 P25098 ARBK1_HUMAN beta-adrenergic receptor kinase 1 260 Protein kinase. activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway cytosol|soluble fraction alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity large_intestine(1) 1 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) Adenosine triphosphate(DB00171) TGTCATACGCGTTCCACACGC 0.672 NA 47 64 4.17e-34 5.95e-34 1 0 SHANK2 22941 broad.mit.edu 37 11 70333070 70333070 + Nonsense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr11:70333070C>A uc001oqc.2 - 21 3406 c.3328G>T c.(3328-3330)GAG>TAG p.E1110* SHANK2_uc010rqn.1_Nonsense_Mutation_p.E522*|SHANK2_uc001opz.2_Nonsense_Mutation_p.E515*|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 731 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) CCCACATCCTCATCCCCCAGG 0.692 NA 39 654 4.05e-12 4.94e-12 1 0 SHANK2 22941 broad.mit.edu 37 11 70333674 70333674 + Silent SNP G G A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr11:70333674G>A uc001oqc.2 - 21 2802 c.2724C>T c.(2722-2724)TGC>TGT p.C908C SHANK2_uc010rqn.1_Silent_p.C320C|SHANK2_uc001opz.2_Silent_p.C313C|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 529 Pro-rich. intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) GGGACTTGGGGCAGTTGTAAG 0.622 NA 29 279 0 0 0 0 ME3 10873 broad.mit.edu 37 11 86161369 86161369 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr11:86161369C>A uc001pbz.2 - 8 1245 c.991G>T c.(991-993)GTG>TTG p.V331L ME3_uc001pca.2_Missense_Mutation_p.V331L|ME3_uc009yvk.2_Missense_Mutation_p.V331L|ME3_uc010rtr.1_RNA NM_001014811 NP_001014811 Q16798 MAON_HUMAN mitochondrial malic enzyme 3 precursor 331 aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process mitochondrial matrix malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding ovary(1) 1 Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252) NADH(DB00157) AAAACAAACACGTGATTGGAA 0.502 NA 21 13 1.96e-10 2.33e-10 1 0 NAALAD2 10003 broad.mit.edu 37 11 89892474 89892474 + Nonsense_Mutation SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr11:89892474G>T uc001pdf.3 + 8 1067 c.958G>T c.(958-960)GGA>TGA p.G320* NAALAD2_uc009yvx.2_Intron|NAALAD2_uc009yvy.2_Intron|NAALAD2_uc001pdd.2_3'UTR|NAALAD2_uc001pde.2_Intron NM_005467 NP_005458 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 320 Extracellular (Potential).|NAALADase. proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity pancreas(1)|skin(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) TTATAGTATCGGACCTGGCTT 0.358 NA 51 24 7.77e-23 1.05e-22 1 0 HEPHL1 341208 broad.mit.edu 37 11 93844770 93844770 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr11:93844770C>A uc001pep.2 + 19 3433 c.3276C>A c.(3274-3276)AAC>AAA p.N1092K uc001pen.1_Intron NM_001098672 NP_001092142 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 precursor 1092 Extracellular (Potential).|Plastocyanin-like 6. copper ion transport integral to membrane copper ion binding|oxidoreductase activity ovary(3) 3 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) TGCCATCTAACGGTAATGATA 0.448 NA 10 5 3.86e-05 4.21e-05 1 0 CWF19L2 143884 broad.mit.edu 37 11 107299911 107299911 + Missense_Mutation SNP T T A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr11:107299911T>A uc010rvp.1 - 8 1077 c.1047A>T c.(1045-1047)AGA>AGT p.R349S CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA NM_152434 NP_689647 Q2TBE0 C19L2_HUMAN CWF19-like 2, cell cycle control 349 catalytic activity 0 Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258) Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05) GGTTAGATTCTCTTCTACACG 0.348 NA 55 27 0 0 0 0 BARX2 8538 broad.mit.edu 37 11 129306871 129306871 + Missense_Mutation SNP C C T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr11:129306871C>T uc001qfc.3 + 2 463 c.413C>T c.(412-414)ACC>ATC p.T138I NM_003658 NP_003649 Q9UMQ3 BARX2_HUMAN BarH-like homeobox 2 138 Homeobox. 0 all_hematologic(175;0.0749) Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253) CGGAGTCGCACCATCTTCACC 0.627 NA 10 6 0 0 0 0 ADAMTS15 170689 broad.mit.edu 37 11 130343610 130343610 + Missense_Mutation SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr11:130343610G>T uc010scd.1 + 8 2747 c.2747G>T c.(2746-2748)CGC>CTC p.R916L NM_139055 NP_620686 Q8TE58 ATS15_HUMAN a disintegrin-like and metalloprotease 916 TSP type-1 3. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(2)|pancreas(1)|lung(1)|skin(1) 5 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) TTTCAGAGGCGCTCACTCAAG 0.697 NA 38 12 2.45e-15 3.1e-15 1 0 OPCML 4978 broad.mit.edu 37 11 132527042 132527042 + Missense_Mutation SNP T T A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr11:132527042T>A uc001qgs.2 - 2 390 c.340A>T c.(340-342)ACC>TCC p.T114S OPCML_uc001qgu.2_Missense_Mutation_p.T107S|OPCML_uc010sck.1_Missense_Mutation_p.T114S|OPCML_uc001qgt.2_Missense_Mutation_p.T114S|OPCML_uc010scl.1_Missense_Mutation_p.T73S NM_002545 NP_002536 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion 114 Ig-like C2-type 1. cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity ovary(2)|skin(1) 3 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) ACAGAGCAGGTGTACGGACCT 0.507 NA 65 30 0 0 0 0 CD163 9332 broad.mit.edu 37 12 7636217 7636217 + Missense_Mutation SNP C C G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr12:7636217C>G uc001qsz.3 - 12 2962 c.2834G>C c.(2833-2835)TGG>TCG p.W945S CD163_uc001qta.3_Missense_Mutation_p.W945S|CD163_uc009zfw.2_Missense_Mutation_p.W978S NM_004244 NP_004235 Q86VB7 C163A_HUMAN CD163 antigen isoform a 945 SRCR 9.|Extracellular (Potential). acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity ovary(6)|pancreas(1)|skin(1) 8 ACCTCCATGCCAGATCTCCAC 0.478 NA 35 41 0 0 0 0 TAS2R7 50837 broad.mit.edu 37 12 10954553 10954553 + Missense_Mutation SNP A A G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr12:10954553A>G uc001qyv.2 - 1 674 c.617T>C c.(616-618)CTC>CCC p.L206P NM_023919 NP_076408 Q9NYW3 TA2R7_HUMAN taste receptor, type 2, member 7 206 Helical; Name=5; (Potential). sensory perception of taste integral to membrane taste receptor activity skin(1) 1 CCGCAGGGAGAGGATCAAGAG 0.498 NA 24 32 0 0 0 0 TAS2R19 259294 broad.mit.edu 37 12 11174609 11174609 + Missense_Mutation SNP A A C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr12:11174609A>C uc010shj.1 - 1 562 c.562T>G c.(562-564)TTT>GTT p.F188V PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron NM_176888 NP_795369 P59542 T2R19_HUMAN taste receptor, type 2, member 19 188 Helical; Name=5; (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity skin(1) 1 CTCAGAGTAAAGGGTATGAGG 0.393 NA 110 153 0 0 0 0 PRB2 653247 broad.mit.edu 37 12 11546131 11546131 + Missense_Mutation SNP G G A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr12:11546131G>A uc010shk.1 - 3 916 c.881C>T c.(880-882)TCC>TTC p.S294F NM_006248 NP_006239 proline-rich protein BstNI subfamily 2 0 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) AGAACTTCGGGACTTGCTGCC 0.602 NA 20 731 0 0 0 0 PDE3A 5139 broad.mit.edu 37 12 20806882 20806882 + Missense_Mutation SNP G G C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr12:20806882G>C uc001reh.1 + 15 2949 c.2927G>C c.(2926-2928)GGT>GCT p.G976A NM_000921 NP_000912 Q14432 PDE3A_HUMAN phosphodiesterase 3A 976 Catalytic (By similarity). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) TATTTCTAGGGTGATGAAGAG 0.428 NA 45 89 0 0 0 0 MLL2 8085 broad.mit.edu 37 12 49433007 49433007 + Silent SNP G G A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr12:49433007G>A uc001rta.3 - 33 8364 c.8364C>T c.(8362-8364)AGC>AGT p.S2788S NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 2788 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 AGCCTCACCGGCTGTTCACAT 0.567 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 4 148 0 0 0 0 GALNT6 11226 broad.mit.edu 37 12 51753071 51753071 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr12:51753071C>A uc001ryk.2 - 7 1438 c.1213G>T c.(1213-1215)GTA>TTA p.V405L GALNT6_uc009zma.1_RNA|GALNT6_uc001ryl.1_Missense_Mutation_p.V405L|GALNT6_uc001ryj.1_5'UTR NM_007210 NP_009141 Q8NCL4 GALT6_HUMAN polypeptide N-acetylgalactosaminyltransferase 6 405 Catalytic subdomain B.|Lumenal (Potential). protein O-linked glycosylation Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2) 2 ACATGGCCTACGACAGAGCAG 0.592 NA 121 172 2.56e-62 3.83e-62 1 0 OR6C74 254783 broad.mit.edu 37 12 55641868 55641868 + Missense_Mutation SNP T T A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr12:55641868T>A uc010spg.1 + 1 797 c.797T>A c.(796-798)GTG>GAG p.V266E NM_001005490 NP_001005490 A6NCV1 O6C74_HUMAN olfactory receptor, family 6, subfamily C, 266 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 AAAGAAAGAGTGTCATTAAAT 0.383 NA 69 79 0 0 0 0 TMEM19 55266 broad.mit.edu 37 12 72090220 72090220 + Silent SNP A A G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr12:72090220A>G uc001sws.2 + 3 832 c.249A>G c.(247-249)CTA>CTG p.L83L TMEM19_uc001swr.1_Silent_p.L69L|TMEM19_uc009zru.1_RNA NM_018279 NP_060749 Q96HH6 TMM19_HUMAN transmembrane protein 19 83 integral to membrane 0 Breast(359;0.0889) GBM - Glioblastoma multiforme(134;0.044) TTTCAGGGCTAGTCGTTGGAT 0.303 NA 45 99 0 0 0 0 TBC1D15 64786 broad.mit.edu 37 12 72278758 72278758 + Missense_Mutation SNP A A G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr12:72278758A>G uc001swu.2 + 5 586 c.577A>G c.(577-579)AAA>GAA p.K193E TBC1D15_uc009zrv.2_Missense_Mutation_p.K72E|TBC1D15_uc010stt.1_Missense_Mutation_p.K179E|TBC1D15_uc001swv.2_Missense_Mutation_p.K193E|TBC1D15_uc001sww.2_Intron NM_022771 NP_073608 Q8TC07 TBC15_HUMAN TBC1 domain family, member 15 isoform 1 171 protein binding|Rab GTPase activator activity 0 AGGAGATAGCAAACTACTGAT 0.358 NA 51 96 0 0 0 0 NAV3 89795 broad.mit.edu 37 12 78400963 78400963 + Missense_Mutation SNP A A G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr12:78400963A>G uc001syp.2 + 8 1818 c.1645A>G c.(1645-1647)AAA>GAA p.K549E NAV3_uc001syo.2_Missense_Mutation_p.K549E NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 549 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 CACAGCAAGCAAAGAGTCTGA 0.463 NA HNSCC(70;0.22) 43 61 0 0 0 0 SLC6A15 55117 broad.mit.edu 37 12 85255560 85255560 + Missense_Mutation SNP G G A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr12:85255560G>A uc001szv.2 - 12 2537 c.2044C>T c.(2044-2046)CCG>TCG p.P682S SLC6A15_uc010sul.1_Missense_Mutation_p.P575S|SLC6A15_uc001szw.1_3'UTR NM_182767 NP_877499 Q9H2J7 S6A15_HUMAN solute carrier family 6, member 15 isoform 1 682 Cytoplasmic (Potential). cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity pancreas(2)|ovary(1) 3 ATCTCGCTCGGTATTTTTCCG 0.438 NA 90 148 0 0 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85450746 85450746 + Missense_Mutation SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr12:85450746G>T uc001tac.2 + 8 2286 c.2175G>T c.(2173-2175)ATG>ATT p.M725I LRRIQ1_uc001tab.1_Missense_Mutation_p.M725I|LRRIQ1_uc001taa.1_Missense_Mutation_p.M700I NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 725 ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) CTGATAGCATGACCTGCTGTG 0.358 NA 236 352 2.42e-132 3.69e-132 1 0 MYO1H 283446 broad.mit.edu 37 12 109872840 109872840 + Splice_Site SNP A A G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr12:109872840A>G uc010sxn.1 + 20 2016 c.2016_splice c.e20-2 p.K672_splice NM_001101421 NP_001094891 Q8N1T3 MYO1H_HUMAN myosin 1H myosin complex motor activity 0 TTTCACTTCTAGAACCAAAAT 0.254 NA 16 27 0 0 0 0 TBX5 6910 broad.mit.edu 37 12 114836427 114836427 + Missense_Mutation SNP G G C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr12:114836427G>C uc001tvo.2 - 5 956 c.461C>G c.(460-462)TCC>TGC p.S154C TBX5_uc001tvp.2_Missense_Mutation_p.S154C|TBX5_uc001tvq.2_Missense_Mutation_p.S104C|TBX5_uc010syv.1_Missense_Mutation_p.S154C NM_181486 NP_852259 Q99593 TBX5_HUMAN T-box 5 isoform 1 154 T-box. cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(6)|pancreas(1)|skin(1) 8 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) TTTCTGGAAGGAGACGAGCTG 0.567 NA 9 19 0 0 0 0 FBXO21 23014 broad.mit.edu 37 12 117603318 117603318 + Missense_Mutation SNP T T C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr12:117603318T>C uc001twk.2 - 9 1337 c.1298A>G c.(1297-1299)TAC>TGC p.Y433C FBXO21_uc001twj.2_Missense_Mutation_p.Y433C|FBXO21_uc009zwq.2_Missense_Mutation_p.Y373C|FBXO21_uc001twl.1_Missense_Mutation_p.Y46C NM_033624 NP_296373 O94952 FBX21_HUMAN F-box only protein 21 isoform 1 433 ubiquitin-dependent protein catabolic process ubiquitin ligase complex ubiquitin-protein ligase activity kidney(1) 1 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0291) CAGGTGGAAGTAAAGCCTGGC 0.512 NA 94 132 0 0 0 0 GOLGA3 2802 broad.mit.edu 37 12 133363016 133363016 + Missense_Mutation SNP T T C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr12:133363016T>C uc001ukz.1 - 15 3591 c.3032A>G c.(3031-3033)CAG>CGG p.Q1011R GOLGA3_uc001ula.1_Missense_Mutation_p.Q1011R|GOLGA3_uc001ulb.2_Missense_Mutation_p.Q1011R NM_005895 NP_005886 Q08378 GOGA3_HUMAN Golgi autoantigen, golgin subfamily a, 3 1011 Potential. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) GAGGGCCTCCTGCAGGCGGCG 0.652 NA 10 28 0 0 0 0 RNF6 6049 broad.mit.edu 37 13 26793609 26793609 + Missense_Mutation SNP G G C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr13:26793609G>C uc001uqo.2 - 3 469 c.178C>G c.(178-180)CTT>GTT p.L60V RNF6_uc001uqn.1_Missense_Mutation_p.L60V|RNF6_uc010aak.2_Missense_Mutation_p.L60V|RNF6_uc001uqp.2_Missense_Mutation_p.L60V|RNF6_uc001uqq.2_Missense_Mutation_p.L60V|RNF6_uc010tdk.1_Translation_Start_Site NM_183044 NP_898865 Q9Y252 RNF6_HUMAN ring finger protein 6 60 negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process axon|cytoplasm|PML body androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|skin(1) 2 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245) GTGCCTAAAAGATTATGGTCT 0.383 NA 58 73 0 0 0 0 MTIF3 219402 broad.mit.edu 37 13 28011271 28011271 + Silent SNP G G A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr13:28011271G>A uc001urh.2 - 2 1824 c.600C>T c.(598-600)GAC>GAT p.D200D MTIF3_uc001uri.2_Silent_p.D200D|MTIF3_uc001urj.2_Silent_p.D200D|MTIF3_uc001urk.2_Silent_p.D200D NM_152912 NP_690876 Q9H2K0 IF3M_HUMAN mitochondrial translational initiation factor 3 200 regulation of translational initiation|ribosome disassembly mitochondrion ribosomal small subunit binding|translation initiation factor activity ovary(1)|skin(1) 2 Lung SC(185;0.0161) Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105) all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157) TTTCTGACACGTCTACATTTT 0.323 NA 26 46 0 0 0 0 C13orf36 400120 broad.mit.edu 37 13 37269514 37269514 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr13:37269514C>A uc001uvt.3 + 2 745 c.299C>A c.(298-300)TCC>TAC p.S100Y NM_203451 NP_982276 A2A2V5 CM036_HUMAN hypothetical protein LOC400120 100 integral to membrane skin(1) 1 TCTCAGAGGTCCACTTTTTCA 0.473 NA 32 86 7.11e-15 8.97e-15 1 0 ESD 2098 broad.mit.edu 37 13 47351749 47351749 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr13:47351749C>A uc001vbn.2 - 9 793 c.610G>T c.(610-612)GCT>TCT p.A204S ESD_uc001vbo.2_Missense_Mutation_p.A204S|ESD_uc001vbp.1_Missense_Mutation_p.A62S NM_001984 NP_001975 P10768 ESTD_HUMAN esterase D/formylglutathione hydrolase 204 cytoplasmic membrane-bounded vesicle carboxylesterase activity|S-formylglutathione hydrolase activity ovary(1) 1 all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) GBM - Glioblastoma multiforme(144;2.66e-05) Glutathione(DB00143) AGGTGGGTAGCATCATAAGCC 0.343 NA 71 120 4.83e-46 7.13e-46 1 0 ATP7B 540 broad.mit.edu 37 13 52520593 52520593 + Missense_Mutation SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr13:52520593G>T uc001vfw.2 - 13 3044 c.2887C>A c.(2887-2889)CAG>AAG p.Q963K ATP7B_uc010adv.2_Missense_Mutation_p.Q533K|ATP7B_uc001vfx.2_Missense_Mutation_p.Q756K|ATP7B_uc001vfy.2_Missense_Mutation_p.Q852K|ATP7B_uc010tgt.1_Intron|ATP7B_uc010tgu.1_Missense_Mutation_p.Q915K|ATP7B_uc010tgv.1_Missense_Mutation_p.Q885K|ATP7B_uc001vfv.2_Missense_Mutation_p.Q235K|ATP7B_uc010tgs.1_Missense_Mutation_p.Q235K NM_000053 NP_000044 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 963 Extracellular (Potential). ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) ACCTCTGTCTGGGAGATGTGC 0.537 NA Wilson_disease 24 39 3.29e-13 4.07e-13 1 0 KLHL1 57626 broad.mit.edu 37 13 70413204 70413204 + Missense_Mutation SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr13:70413204G>T uc001vip.2 - 6 2112 c.1318C>A c.(1318-1320)CCA>ACA p.P440T KLHL1_uc010thm.1_Missense_Mutation_p.P379T NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 440 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) CTTCTTTCTGGCAATAGATGG 0.353 NA 69 86 1.26e-45 1.85e-45 1 0 SLITRK1 114798 broad.mit.edu 37 13 84454928 84454928 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr13:84454928C>A uc001vlk.2 - 1 1601 c.715G>T c.(715-717)GTG>TTG p.V239L NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 239 Extracellular (Potential).|LRRCT 1. integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) TCGCAGACCACTCGGCCGATC 0.527 NA 36 53 2.64e-12 3.24e-12 1 0 ERCC5 2073 broad.mit.edu 37 13 103519118 103519118 + Missense_Mutation SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr13:103519118G>T uc001vpw.2 + 11 2899 c.2456G>T c.(2455-2457)CGG>CTG p.R819L ERCC5_uc001vpu.1_Missense_Mutation_p.R1273L|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Missense_Mutation_p.R651L NM_000123 NP_000114 P28715 ERCC5_HUMAN XPG-complementing protein 819 I-domain. negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection nucleoplasm bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding ovary(4)|lung(1)|central_nervous_system(1)|skin(1) 7 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) TTTGGAGCGCGGCATGTCTAT 0.428 NA Mis|N|F skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 32 46 3.11e-16 3.99e-16 1 0 TTC5 91875 broad.mit.edu 37 14 20768960 20768960 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr14:20768960C>A uc001vwt.2 - 3 259 c.202G>T c.(202-204)GCA>TCA p.A68S TTC5_uc001vwu.2_5'UTR NM_138376 NP_612385 Q8N0Z6 TTC5_HUMAN tetratricopeptide repeat domain 5 68 TPR 1. DNA repair cytoplasm|nucleus binding ovary(1) 1 all_cancers(95;0.00092) Epithelial(56;1.1e-06)|all cancers(55;8.07e-06) GBM - Glioblastoma multiforme(265;0.0106) AGAACTTGTGCCTTGCCCTGG 0.438 NA 236 181 4.91e-105 7.44e-105 1 0 NDRG2 57447 broad.mit.edu 37 14 21491405 21491405 + Missense_Mutation SNP C C T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr14:21491405C>T uc001vyy.2 - 3 220 c.70G>A c.(70-72)GCC>ACC p.A24T NDRG2_uc010tll.1_Missense_Mutation_p.A34T|NDRG2_uc001vyt.2_5'Flank|NDRG2_uc001vyu.2_Missense_Mutation_p.A24T|NDRG2_uc001vyv.2_Missense_Mutation_p.A24T|NDRG2_uc001vyw.2_Missense_Mutation_p.A24T|NDRG2_uc001vzb.2_5'UTR|NDRG2_uc001vyx.2_Missense_Mutation_p.A24T|NDRG2_uc001vza.2_Missense_Mutation_p.A24T|NDRG2_uc001vyz.2_Missense_Mutation_p.A24T|NDRG2_uc001vzc.2_Missense_Mutation_p.A24T|NDRG2_uc001vze.2_Missense_Mutation_p.A24T|NDRG2_uc001vzd.2_Missense_Mutation_p.A24T|NDRG2_uc001vzg.2_Missense_Mutation_p.A24T|NDRG2_uc001vzf.2_Missense_Mutation_p.A24T|NDRG2_uc010aig.2_Missense_Mutation_p.A24T NM_201540 NP_963834 Q9UN36 NDRG2_HUMAN N-myc downstream-regulated gene 2 isoform a 24 cell differentiation|nervous system development centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm ovary(1)|breast(1) 2 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08) GBM - Glioblastoma multiforme(265;0.0191) ATAACCTTGGCCGCCTCAGGC 0.537 NA 3 43 0 0 0 0 MYH7 4625 broad.mit.edu 37 14 23886825 23886825 + Silent SNP G G A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr14:23886825G>A uc001wjx.2 - 31 4346 c.4240C>T c.(4240-4242)CTG>TTG p.L1414L NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1414 Potential. L -> M (in CMH1). adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) GTCTTCTCCAGCGAGGAGCAC 0.617 NA 128 81 0 0 0 0 SSTR1 6751 broad.mit.edu 37 14 38679295 38679295 + Missense_Mutation SNP T T A rs149523434 TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr14:38679295T>A uc001wul.1 + 3 1318 c.701T>A c.(700-702)CTG>CAG p.L234Q SSTR1_uc010amu.1_Intron NM_001049 NP_001040 P30872 SSR1_HUMAN somatostatin receptor 1 234 Helical; Name=5; (Potential). digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity central_nervous_system(3)|ovary(1)|lung(1) 5 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) GGCTTCCTGCTGCCCGTGGGG 0.622 NA 32 66 0 0 0 0 PTGER2 5732 broad.mit.edu 37 14 52781369 52781369 + Missense_Mutation SNP G G A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr14:52781369G>A uc001wzr.2 + 1 354 c.103G>A c.(103-105)GGG>AGG p.G35R NM_000956 NP_000947 P43116 PE2R2_HUMAN prostaglandin E receptor 2 (subtype EP2), 53kDa 35 Helical; Name=1; (Potential). integral to plasma membrane prostaglandin E receptor activity lung(1)|breast(1) 2 Breast(41;0.0639)|all_epithelial(31;0.0729) Alprostadil(DB00770)|Iloprost(DB01088) GTTCTCGGCCGGGGTGCTGGG 0.682 NA 25 8 0 0 0 0 YLPM1 56252 broad.mit.edu 37 14 75230942 75230942 + Silent SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr14:75230942G>T uc001xqj.3 + 1 874 c.750G>T c.(748-750)CCG>CCT p.P250P NM_019589 NP_062535 P49750 YLPM1_HUMAN YLP motif containing 1 90 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck ovary(2)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) CACCACCACCGTCCGCCCCCC 0.567 NA 101 54 8.65e-51 1.28e-50 1 0 MLH3 27030 broad.mit.edu 37 14 75500173 75500173 + Missense_Mutation SNP C C G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr14:75500173C>G uc001xrd.1 - 7 3880 c.3664G>C c.(3664-3666)GTG>CTG p.V1222L MLH3_uc001xre.1_Intron|MLH3_uc010tuy.1_RNA NM_001040108 NP_001035197 Q9UHC1 MLH3_HUMAN mutL homolog 3 isoform 1 1222 mismatch repair|reciprocal meiotic recombination chiasma|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00688) TGCTGATCCACCAGCACGAGC 0.478 NA MMR 25 71 0 0 0 0 GALC 2581 broad.mit.edu 37 14 88434807 88434807 + Silent SNP T T C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr14:88434807T>C uc001xvt.2 - 8 1179 c.780A>G c.(778-780)GCA>GCG p.A260A GALC_uc010tvw.1_RNA|GALC_uc010tvx.1_Silent_p.A234A|GALC_uc010tvy.1_Silent_p.A237A|GALC_uc010tvz.1_Silent_p.A204A|GALC_uc001xvu.1_Silent_p.A260A NM_000153 NP_000144 P54803 GALC_HUMAN galactosylceramidase isoform a precursor 260 carbohydrate metabolic process|galactosylceramide catabolic process lysosome cation binding|galactosylceramidase activity 0 TTGCATCTTTTGCTGAATGGG 0.413 NA 73 94 0 0 0 0 ZC3H14 79882 broad.mit.edu 37 14 89041117 89041117 + Missense_Mutation SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr14:89041117G>T uc001xww.2 + 7 1167 c.942G>T c.(940-942)GAG>GAT p.E314D ZC3H14_uc010twd.1_Missense_Mutation_p.E314D|ZC3H14_uc010twe.1_Missense_Mutation_p.E314D|ZC3H14_uc001xwx.2_Missense_Mutation_p.E314D|ZC3H14_uc010twf.1_Missense_Mutation_p.E159D|ZC3H14_uc001xwy.2_Missense_Mutation_p.E280D|ZC3H14_uc010twg.1_Missense_Mutation_p.E159D|ZC3H14_uc001xxa.2_5'Flank NM_024824 NP_079100 Q6PJT7 ZC3HE_HUMAN zinc finger CCCH-type containing 14 isoform 1 314 cytoplasm|cytoplasm|nuclear speck protein binding|RNA binding|zinc ion binding ovary(2)|skin(1) 3 ATGGAGAAGAGGAGGAAGAAG 0.413 NA 27 55 2.45e-14 3.07e-14 1 0 FAM181A 90050 broad.mit.edu 37 14 94394802 94394802 + Silent SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr14:94394802G>T uc001ybz.1 + 3 664 c.357G>T c.(355-357)CGG>CGT p.R119R C14orf86_uc001yby.2_5'Flank|FAM181A_uc010aus.1_Silent_p.R57R|FAM181A_uc001yca.1_Silent_p.R57R NM_138344 NP_612353 Q8N9Y4 F181A_HUMAN hypothetical protein LOC90050 119 0 GGCTCCCGCGGGGCCTTCCTG 0.657 NA 21 33 7.42e-09 8.61e-09 1 0 OR4M2 390538 broad.mit.edu 37 15 22368976 22368976 + Missense_Mutation SNP C C T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr15:22368976C>T uc010tzu.1 + 1 401 c.401C>T c.(400-402)ACC>ATC p.T134I LOC727924_uc001yua.2_RNA|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, 134 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) CACTATGCTACCATCATGAAT 0.507 NA 91 801 0 0 0 0 OR4N4 283694 broad.mit.edu 37 15 22382664 22382664 + Silent SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr15:22382664C>A uc001yuc.1 + 7 1173 c.192C>A c.(190-192)GGC>GGA p.G64G LOC727924_uc001yub.1_RNA|OR4N4_uc010tzv.1_Silent_p.G64G NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, 64 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TATTTCTGGGCAACTTGGCCT 0.463 NA 67 578 1.77e-45 2.6e-45 1 0 OR4N4 283694 broad.mit.edu 37 15 22382712 22382712 + Silent SNP G G A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr15:22382712G>A uc001yuc.1 + 7 1221 c.240G>A c.(238-240)AGG>AGA p.R80R LOC727924_uc001yub.1_RNA|OR4N4_uc010tzv.1_Silent_p.R80R NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, 80 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TGGCTCCCAGGATGTTGGTGG 0.512 NA 22 606 0 0 0 0 C15orf2 23742 broad.mit.edu 37 15 24921415 24921415 + Missense_Mutation SNP C C T rs139493881 TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr15:24921415C>T uc001ywo.2 + 1 875 c.401C>T c.(400-402)GCG>GTG p.A134V NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 134 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) CGTGAGCCGGCGGTCAAGGCC 0.632 NA 71 16 0 0 0 0 C15orf2 23742 broad.mit.edu 37 15 24922323 24922323 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr15:24922323C>A uc001ywo.2 + 1 1783 c.1309C>A c.(1309-1311)CTC>ATC p.L437I NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 437 Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) TACTGGACCCCTCATCCTGCC 0.537 NA 114 21 2.13e-42 3.11e-42 1 0 OCA2 4948 broad.mit.edu 37 15 28230301 28230301 + Missense_Mutation SNP T T A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr15:28230301T>A uc001zbh.3 - 13 1383 c.1273A>T c.(1273-1275)ATG>TTG p.M425L OCA2_uc010ayv.2_Missense_Mutation_p.M401L NM_000275 NP_000266 Q04671 P_HUMAN oculocutaneous albinism II 425 Helical; (Potential). Missing (in OCA2; mild). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding ovary(3)|breast(1)|pancreas(1) 5 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) ATGATGATCATGGCCCACACC 0.577 NA Oculocutaneous_Albinism 37 2 0 0 0 0 FBN1 2200 broad.mit.edu 37 15 48752447 48752447 + Silent SNP G G A rs111756438 TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr15:48752447G>A uc001zwx.1 - 43 5620 c.5292C>T c.(5290-5292)CCC>CCT p.P1764P FBN1_uc010beo.1_RNA NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 1764 heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) ACTCACCAACGGGTAAACCGG 0.393 NA 58 13 0 0 0 0 C15orf33 196951 broad.mit.edu 37 15 49663561 49663561 + Missense_Mutation SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr15:49663561G>T uc001zxl.2 - 12 1342 c.1048C>A c.(1048-1050)CCA>ACA p.P350T NM_152647 NP_689860 Q96M60 CO033_HUMAN hypothetical protein LOC196951 350 ovary(1) 1 all_lung(180;0.00187) all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124) TATGCTCTTGGGTTGTTCAGA 0.289 NA 188 49 3.3e-99 4.99e-99 1 0 SLC27A2 11001 broad.mit.edu 37 15 50515307 50515307 + Missense_Mutation SNP A A G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr15:50515307A>G uc001zxw.2 + 5 1350 c.1118A>G c.(1117-1119)AAT>AGT p.N373S SLC27A2_uc010bes.2_Missense_Mutation_p.N320S|SLC27A2_uc001zxx.2_Missense_Mutation_p.N138S NM_003645 NP_003636 O14975 S27A2_HUMAN solute carrier family 27 (fatty acid 373 Cytoplasmic (Potential). bile acid biosynthetic process|fatty acid alpha-oxidation endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity ovary(1)|skin(1) 2 all_lung(180;0.00177) all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113) GGATTTATGAATTATGCGAGA 0.393 NA 52 75 0 0 0 0 UNC13C 440279 broad.mit.edu 37 15 54557618 54557618 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr15:54557618C>A uc002ack.2 + 8 3742 c.3742C>A c.(3742-3744)CAA>AAA p.Q1248K UNC13C_uc002acl.2_Missense_Mutation_p.Q78K NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 1248 C2 1. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TGTTACAGTTCAAGTTGGAAA 0.323 NA 10 11 0.000442599 0.000473429 1 0 NOX5 79400 broad.mit.edu 37 15 69335139 69335139 + Silent SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr15:69335139G>T uc002ars.1 + 10 1661 c.1641G>T c.(1639-1641)TCG>TCT p.S547S NOX5_uc002arp.1_Silent_p.S529S|NOX5_uc002arq.1_Silent_p.S501S|NOX5_uc010bid.1_Silent_p.S512S|NOX5_uc002arr.1_Silent_p.S519S|NOX5_uc010bie.1_Silent_p.S347S|NOX5_uc010bif.1_RNA NM_024505 NP_078781 Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 547 FAD-binding FR-type.|Cytoplasmic (Potential).|C-terminal catalytic region. angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity breast(1)|pancreas(1) 2 GTCAAAGGTCGTCCAAGGTAG 0.527 NA 40 7 3.62e-18 4.69e-18 1 0 KIAA1024 23251 broad.mit.edu 37 15 79749833 79749833 + Missense_Mutation SNP G G C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr15:79749833G>C uc002bew.1 + 2 1419 c.1344G>C c.(1342-1344)AAG>AAC p.K448N KIAA1024_uc010unk.1_Missense_Mutation_p.K448N NM_015206 NP_056021 Q9UPX6 K1024_HUMAN hypothetical protein LOC23251 448 integral to membrane pancreas(2)|ovary(1)|central_nervous_system(1) 4 ACCTGGAGAAGCATGAACCAG 0.488 NA 64 19 0 0 0 0 C15orf32 145858 broad.mit.edu 37 15 93015432 93015432 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr15:93015432C>A uc002brc.1 + 1 526 c.54C>A c.(52-54)GAC>GAA p.D18E C15orf32_uc010bod.1_RNA NM_153040 NP_694585 Q32M92 CO032_HUMAN hypothetical protein LOC145858 18 ovary(1) 1 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125) ACCCGGCTGACCCCCAGAGTG 0.408 NA 74 16 9.21e-24 1.25e-23 1 0 STUB1 10273 broad.mit.edu 37 16 732421 732421 + Missense_Mutation SNP C C T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr16:732421C>T uc002cit.2 + 7 1255 c.844C>T c.(844-846)CCC>TCC p.P282S STUB1_uc002ciu.2_Missense_Mutation_p.P210S|STUB1_uc010bqz.2_RNA|STUB1_uc002civ.2_RNA|JMJD8_uc002ciw.1_3'UTR|JMJD8_uc002cix.1_3'UTR|JMJD8_uc002ciy.1_3'UTR NM_005861 NP_005852 Q9UNE7 CHIP_HUMAN STIP1 homology and U-box containing protein 1 282 U-box. cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity 0 Hepatocellular(780;0.00335) ACAGCTCATCCCCAACTTGGC 0.592 NA 47 64 0 0 0 0 PTX4 390667 broad.mit.edu 37 16 1536306 1536306 + Missense_Mutation SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr16:1536306G>T uc010uvf.1 - 3 1056 c.1056C>A c.(1054-1056)GAC>GAA p.D352E NM_001013658 NP_001013680 Q96A99 PTX4_HUMAN neuronal pentraxin II-like 357 Pentaxin. extracellular region metal ion binding 0 GCCACTGGCCGTCCAGCAGCA 0.672 NA 28 31 2.13e-12 2.62e-12 1 0 CREBBP 1387 broad.mit.edu 37 16 3778856 3778856 + Silent SNP G G A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr16:3778856G>A uc002cvv.2 - 31 6396 c.6192C>T c.(6190-6192)CCC>CCT p.P2064P CREBBP_uc002cvw.2_Silent_p.P2026P NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 2064 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GCAGAGCGCTGGGTGAGATGC 0.642 NA T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome 23 41 0 0 0 0 GLYR1 84656 broad.mit.edu 37 16 4855258 4855258 + Silent SNP C C A rs138196315 by1000genomes TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr16:4855258C>A uc002cxx.3 - 16 1678 c.1641G>T c.(1639-1641)GTG>GTT p.V547V ROGDI_uc002cxv.2_5'Flank|ROGDI_uc010bua.2_5'Flank|ROGDI_uc002cxw.2_5'Flank|ROGDI_uc010bub.1_5'Flank|ROGDI_uc010uxu.1_5'Flank|GLYR1_uc002cxy.2_RNA|GLYR1_uc002cxz.1_Silent_p.V461V|GLYR1_uc002cya.2_Silent_p.V541V|GLYR1_uc010uxv.1_Silent_p.V466V NM_032569 NP_115958 Q49A26 GLYR1_HUMAN cytokine-like nuclear factor n-pac 547 pentose-phosphate shunt nucleus coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity 0 AGGCTCGGTACACGGCGGACA 0.592 NA 11 26 6.72e-11 8.04e-11 1 0 ACSM5 54988 broad.mit.edu 37 16 20430642 20430642 + Missense_Mutation SNP G G A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr16:20430642G>A uc002dhe.2 + 4 655 c.508G>A c.(508-510)GAC>AAC p.D170N ACSM5_uc002dhd.1_Missense_Mutation_p.D170N NM_017888 NP_060358 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 170 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding ovary(2) 2 TATCACCAGTGACTCCCTAGC 0.582 NA 39 55 0 0 0 0 ACSM3 6296 broad.mit.edu 37 16 20787221 20787221 + Silent SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr16:20787221C>A uc002dhr.2 + 3 467 c.280C>A c.(280-282)CGA>AGA p.R94R ACSM3_uc002dhq.2_Silent_p.R94R|ACSM3_uc010vba.1_Silent_p.R86R NM_005622 NP_005613 Q53FZ2 ACSM3_HUMAN SA hypertension-associated homolog isoform 1 94 regulation of blood pressure mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding ovary(1) 1 AGAAGAGATGCGATGGAGTTT 0.413 NA 111 144 5.67e-43 8.3e-43 1 0 ZP2 7783 broad.mit.edu 37 16 21213115 21213115 + Missense_Mutation SNP C C T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr16:21213115C>T uc002dii.2 - 13 1416 c.1416G>A c.(1414-1416)ATG>ATA p.M472I ZP2_uc010bwn.1_Missense_Mutation_p.M502I NM_003460 NP_003451 Q05996 ZP2_HUMAN zona pellucida glycoprotein 2 preproprotein 472 Extracellular (Potential).|ZP. binding of sperm to zona pellucida|intracellular protein transport endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(48;0.0573) TGTTTAGTAGCATGTCATTCC 0.413 NA 83 120 0 0 0 0 PRKCB 5579 broad.mit.edu 37 16 23847649 23847649 + Missense_Mutation SNP C C G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr16:23847649C>G uc002dmd.2 + 1 350 c.153C>G c.(151-153)AGC>AGG p.S51R PRKCB_uc002dme.2_Missense_Mutation_p.S51R NM_212535 NP_997700 P05771 KPCB_HUMAN protein kinase C, beta isoform 1 51 Phorbol-ester/DAG-type 1. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1) 9 Vitamin E(DB00163) CCTTCTGCAGCCACTGCACCG 0.627 NA 45 73 0 0 0 0 ARHGAP17 55114 broad.mit.edu 37 16 24980015 24980015 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr16:24980015C>A uc002dnb.2 - 5 444 c.351G>T c.(349-351)AAG>AAT p.K117N ARHGAP17_uc002dnc.2_Missense_Mutation_p.K117N|ARHGAP17_uc010vcf.1_Translation_Start_Site|ARHGAP17_uc002dnf.2_Missense_Mutation_p.K25N|ARHGAP17_uc002dng.1_Missense_Mutation_p.K117N NM_001006634 NP_001006635 Q68EM7 RHG17_HUMAN nadrin isoform 1 117 BAR. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding 0 GBM - Glioblastoma multiforme(48;0.0407) CCACGATCTCCTTCTCAACAA 0.537 NA 86 109 2.58e-40 3.74e-40 1 0 RBL2 5934 broad.mit.edu 37 16 53503839 53503839 + Missense_Mutation SNP C C G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr16:53503839C>G uc002ehi.3 + 15 2105 c.1987C>G c.(1987-1989)CCA>GCA p.P663A RBL2_uc010vgv.1_Missense_Mutation_p.P589A|RBL2_uc002ehj.2_Missense_Mutation_p.P373A|RBL2_uc010vgw.1_Intron NM_005611 NP_005602 Q08999 RBL2_HUMAN retinoblastoma-like 2 (p130) 663 Spacer.|Pocket; binds E1A. cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(2)|lung(2)|upper_aerodigestive_tract(1) 5 CATAACATCTCCAACCACATT 0.453 NA 69 58 0 0 0 0 CIRH1A 84916 broad.mit.edu 37 16 69184450 69184450 + Missense_Mutation SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr16:69184450G>T uc002ews.3 + 7 845 c.749G>T c.(748-750)AGT>ATT p.S250I CIRH1A_uc002ewr.2_Missense_Mutation_p.S250I|CIRH1A_uc002ewt.3_Missense_Mutation_p.S167I|CIRH1A_uc010cfi.2_Missense_Mutation_p.S167I|CIRH1A_uc010cfj.1_Missense_Mutation_p.S69I NM_032830 NP_116219 Q969X6 CIR1A_HUMAN cirhin 250 WD 6. nucleolus protein binding 0 OV - Ovarian serous cystadenocarcinoma(108;0.125) CAAGAAGACAGTTTCGTGGTG 0.488 NA OREG0023906 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 485 93 1.38e-241 2.11e-241 1 0 ZNF23 7571 broad.mit.edu 37 16 71483245 71483245 + Missense_Mutation SNP T T C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr16:71483245T>C uc002faf.2 - 6 1497 c.683A>G c.(682-684)GAG>GGG p.E228G ZNF23_uc002fad.2_Missense_Mutation_p.E170G|ZNF23_uc002fae.2_Missense_Mutation_p.E170G|ZNF23_uc010vmf.1_Missense_Mutation_p.E170G|ZNF23_uc002fag.2_Missense_Mutation_p.E170G|ZNF23_uc002fah.2_Missense_Mutation_p.E228G|ZNF23_uc002fai.2_Missense_Mutation_p.E267G NM_145911 NP_666016 P17027 ZNF23_HUMAN zinc finger protein 23 228 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(137;0.00768) BRCA - Breast invasive adenocarcinoma(221;0.0686) TTTCCCACACTCCACACATTT 0.453 NA 51 592 0 0 0 0 BCAR1 9564 broad.mit.edu 37 16 75269450 75269450 + Silent SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr16:75269450C>A uc002fdv.2 - 5 1470 c.1347G>T c.(1345-1347)CCG>CCT p.P449P BCAR1_uc002fdt.2_5'UTR|BCAR1_uc002fdu.2_Silent_p.P239P|BCAR1_uc010cgu.2_Silent_p.P438P|BCAR1_uc010vna.1_Silent_p.P447P|BCAR1_uc010vnb.1_Silent_p.P495P|BCAR1_uc002fdw.2_Silent_p.P449P|BCAR1_uc010vnc.1_Silent_p.P301P|BCAR1_uc010vnd.1_Silent_p.P467P|BCAR1_uc002fdx.2_Silent_p.P467P NM_014567 NP_055382 P56945 BCAR1_HUMAN breast cancer anti-estrogen resistance 1 449 Ser-rich. actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway cytosol|focal adhesion|membrane fraction|ruffle protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity central_nervous_system(5)|breast(2)|prostate(1) 8 BRCA - Breast invasive adenocarcinoma(221;0.169) GTTCCCGGCCCGGCCCTGCCA 0.697 NA 17 3 7.08e-05 7.65e-05 1 0 C16orf46 123775 broad.mit.edu 37 16 81094970 81094970 + Silent SNP C C T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr16:81094970C>T uc002fgc.3 - 4 1243 c.984G>A c.(982-984)CAG>CAA p.Q328Q C16orf46_uc010chf.2_Silent_p.Q328Q|C16orf46_uc010vno.1_Silent_p.Q55Q NM_152337 NP_689550 Q6P387 CP046_HUMAN chromosome 16 open reading frame 46 isoform 2 328 0 CTCCCCGTTTCTGCAGAAGCT 0.542 NA 72 120 0 0 0 0 TSR1 55720 broad.mit.edu 37 17 2238189 2238189 + Silent SNP T T A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr17:2238189T>A uc002fuj.2 - 5 1515 c.558A>T c.(556-558)ACA>ACT p.T186T SGSM2_uc002fum.3_5'Flank|SGSM2_uc010vqw.1_5'Flank|SGSM2_uc002fun.3_5'Flank NM_018128 NP_060598 Q2NL82 TSR1_HUMAN TSR1, 20S rRNA accumulation 186 ribosome assembly nucleolus protein binding ovary(1) 1 GGACAGCTAGTGCTGTAAGCG 0.453 NA 80 98 0 0 0 0 NEURL4 84461 broad.mit.edu 37 17 7230998 7230998 + Missense_Mutation SNP C C T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr17:7230998C>T uc002gga.1 - 2 495 c.488G>A c.(487-489)CGC>CAC p.R163H NEURL4_uc002ggb.1_Missense_Mutation_p.R163H|NEURL4_uc002ggc.1_5'Flank NM_032442 NP_115818 Q96JN8 NEUL4_HUMAN neuralized homolog 4 isoform 1 163 NHR 1. protein binding upper_aerodigestive_tract(1)|ovary(1) 2 AGCAACTGTGCGCTCCACGCC 0.642 NA 65 95 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578523 7578523 + Missense_Mutation SNP T T G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr17:7578523T>G uc002gim.2 - 5 601 c.407A>C c.(406-408)CAA>CCA p.Q136P TP53_uc002gig.1_Missense_Mutation_p.Q136P|TP53_uc002gih.2_Missense_Mutation_p.Q136P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Q4P|TP53_uc010cng.1_Missense_Mutation_p.Q4P|TP53_uc002gii.1_Missense_Mutation_p.Q4P|TP53_uc010cnh.1_Missense_Mutation_p.Q136P|TP53_uc010cni.1_Missense_Mutation_p.Q136P|TP53_uc002gij.2_Missense_Mutation_p.Q136P|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.Q43P|TP53_uc002gio.2_Missense_Mutation_p.Q4P|TP53_uc010vug.1_Missense_Mutation_p.Q97P NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 136 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> E (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Q136*(28)|p.0?(7)|p.Q136H(5)|p.Q136Q(4)|p.Q136P(3)|p.Q136E(3)|p.Q136fs*13(2)|p.N131fs*27(2)|p.Q136fs*34(2)|p.Q136R(2)|p.V73fs*9(1)|p.F134_T140>S(1)|p.C135_T140delCQLAKT(1)|p.Q136K(1)|p.Y126fs*11(1)|p.C135_A138delCQLA(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.Q136_K139delQLAK(1)|p.C135_Q136insX(1)|p.C135_Q136insXXXXXX(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CTTGGCCAGTTGGCAAAACAT 0.562 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 24 39 0 0 0 0 PER1 5187 broad.mit.edu 37 17 8044494 8044495 + Missense_Mutation DNP TT TT AA TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr17:8044494_8044495TT>AA uc002gkd.2 - 23 4002_4003 c.3764_3765AA>TT c.(3763-3765)CAA>CTT p.Q1255L PER1_uc010cns.2_Missense_Mutation_p.Q129L|PER1_uc010vuq.1_RNA NM_002616 NP_002607 O15534 PER1_HUMAN period 1 1255 CRY binding domain (By similarity). circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1) 9 TGGCCCCGCCTTGGGCCTCCTC 0.639 NA T ETV6 AML|CMML Other_conserved_DNA_damage_response_genes 179 268 0 0 0 0 PIK3R6 146850 broad.mit.edu 37 17 8732225 8732225 + Silent SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr17:8732225G>T uc002glq.1 - 11 1212 c.972C>A c.(970-972)CTC>CTA p.L324L PIK3R6_uc002glr.1_RNA|PIK3R6_uc002gls.1_RNA NM_001010855 NP_001010855 Q5UE93 PI3R6_HUMAN phosphoinositide-3-kinase, regulatory subunit 6 324 platelet activation cytosol 0 GGTCCGGCCGGAGGCCCTGCA 0.657 NA 14 23 1.58e-08 1.83e-08 1 0 MAP2K3 5606 broad.mit.edu 37 17 21204272 21204272 + Nonsense_Mutation SNP C C G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr17:21204272C>G uc002gys.2 + 5 631 c.366C>G c.(364-366)TAC>TAG p.Y122* MAP2K3_uc002gyt.2_Nonsense_Mutation_p.Y93*|MAP2K3_uc002gyu.2_Nonsense_Mutation_p.Y93* NM_145109 NP_659731 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 122 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) ACTGTTTCTACACTGTCACCT 0.592 NA 4 183 0 0 0 0 KCNJ12 3768 broad.mit.edu 37 17 21319071 21319071 + Missense_Mutation SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr17:21319071G>T uc002gyv.1 + 3 1122 c.417G>T c.(415-417)GAG>GAT p.E139D NM_021012 NP_066292 Q14500 IRK12_HUMAN potassium inwardly-rectifying channel, subfamily 139 E -> K (in Ref. 2; AAC50615). blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission integral to membrane inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity ovary(3)|skin(1) 4 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) Dofetilide(DB00204) TCTCCATCGAGACGCAGACCA 0.672 NA Prostate(3;0.18) 7 22 0.000442599 0.000473429 1 0 ATAD5 79915 broad.mit.edu 37 17 29220783 29220783 + Missense_Mutation SNP T T A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr17:29220783T>A uc002hfs.1 + 21 5258 c.4912T>A c.(4912-4914)TGT>AGT p.C1638S NM_024857 NP_079133 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 1638 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity ovary(3) 3 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) AGGAAAAAAATGTTCTGCCCT 0.378 NA 106 180 0 0 0 0 MYO1D 4642 broad.mit.edu 37 17 31107692 31107692 + Missense_Mutation SNP C C T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr17:31107692C>T uc002hho.1 - 2 218 c.206G>A c.(205-207)CGT>CAT p.R69H MYO1D_uc002hhp.1_Missense_Mutation_p.R69H|MYO1D_uc010wcb.1_Missense_Mutation_p.R69H NM_015194 NP_056009 O94832 MYO1D_HUMAN myosin ID 69 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(9;0.0362) ATACAGCTCACGGCCTTTATA 0.448 NA 67 73 0 0 0 0 UNC45B 146862 broad.mit.edu 37 17 33501357 33501357 + Missense_Mutation SNP C C G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr17:33501357C>G uc002hja.2 + 14 2030 c.1933C>G c.(1933-1935)CTC>GTC p.L645V UNC45B_uc002hjb.2_Missense_Mutation_p.L643V|UNC45B_uc002hjc.2_Missense_Mutation_p.L643V|UNC45B_uc010cto.2_Missense_Mutation_p.L564V NM_173167 NP_775259 Q8IWX7 UN45B_HUMAN cardiomyopathy associated 4 isoform 1 645 cell differentiation|muscle organ development cytosol binding ovary(3)|central_nervous_system(2)|breast(1) 6 Ovarian(249;0.17) TAGTGCCATCCTCACTGACCA 0.597 NA 4 108 0 0 0 0 SMCHD1 23347 broad.mit.edu 37 18 2751280 2751280 + Silent SNP T T C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr18:2751280T>C uc002klm.3 + 33 4359 c.4170T>C c.(4168-4170)TTT>TTC p.F1390F SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA NM_015295 NP_056110 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible 1390 chromosome organization ATP binding 0 TGACAGATTTTATGATTAGTG 0.303 NA 17 334 0 0 0 0 ARHGAP28 79822 broad.mit.edu 37 18 6882171 6882172 + Missense_Mutation DNP TG TG GT TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr18:6882171_6882172TG>GT uc010wzi.1 + 10 1033_1034 c.795_796TG>GT c.(793-798)GCTGAT>GCGTAT p.D266Y ARHGAP28_uc002knc.2_Missense_Mutation_p.D391Y|ARHGAP28_uc002knd.2_Missense_Mutation_p.D284Y|ARHGAP28_uc002kne.2_Missense_Mutation_p.D284Y|ARHGAP28_uc002knf.2_Missense_Mutation_p.D275Y B4DXL2 B4DXL2_HUMAN SubName: Full=Putative uncharacterized protein ARHGAP28; 266 signal transduction intracellular pancreas(1) 1 Colorectal(10;0.168) AGTTTAATGCTGATAAATTTAA 0.396 NA 131 80 0 0 0 0 LAMA1 284217 broad.mit.edu 37 18 7015791 7015791 + Missense_Mutation SNP T T C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr18:7015791T>C uc002knm.2 - 22 3150 c.3056A>G c.(3055-3057)CAC>CGC p.H1019R LAMA1_uc010wzj.1_Missense_Mutation_p.H495R NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 1019 Laminin EGF-like 11. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACCCTGTGTGTGAGGGGGGCA 0.542 NA 70 259 0 0 0 0 PPP4R1 9989 broad.mit.edu 37 18 9563520 9563520 + Silent SNP T T A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr18:9563520T>A uc002koe.1 - 12 1720 c.1602A>T c.(1600-1602)CTA>CTT p.L534L PPP4R1_uc002kof.2_5'UTR|PPP4R1_uc010wzo.1_Silent_p.L380L|PPP4R1_uc002kod.1_Silent_p.L517L|PPP4R1_uc010wzp.1_RNA NM_001042388 NP_001035847 Q8TF05 PP4R1_HUMAN protein phosphatase 4, regulatory subunit 1 534 HEAT 10. protein phosphorylation|signal transduction protein phosphatase 4 complex protein binding|protein phosphatase type 4 regulator activity skin(1) 1 TGGAAGCACGTAGTGCAGCGG 0.403 NA 47 163 0 0 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14852103 14852103 + Missense_Mutation SNP G G A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr18:14852103G>A uc010dlo.2 + 36 3983 c.3803G>A c.(3802-3804)CGA>CAA p.R1268Q ANKRD30B_uc010xal.1_Missense_Mutation_p.R410Q NM_001145029 NP_001138501 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 1353 ovary(1)|skin(1) 2 CAAAGAGACCGATGTGAAACA 0.388 NA 7 32 0 0 0 0 ROCK1 6093 broad.mit.edu 37 18 18600198 18600198 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr18:18600198C>A uc002kte.2 - 12 2216 c.1275G>T c.(1273-1275)CAG>CAT p.Q425H NM_005406 NP_005397 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein 425 Interaction with FHOD1.|Potential. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity lung(2)|breast(2)|central_nervous_system(1) 5 Melanoma(1;0.165) GCAAACTTTCCTGCTTTAATT 0.269 NA 21 48 7.45e-12 9.03e-12 1 0 NPC1 4864 broad.mit.edu 37 18 21124402 21124402 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr18:21124402C>A uc002kum.3 - 13 2310 c.2036G>T c.(2035-2037)GGG>GTG p.G679V NPC1_uc010xaz.1_Missense_Mutation_p.G412V|NPC1_uc010xba.1_Missense_Mutation_p.G524V NM_000271 NP_000262 O15118 NPC1_HUMAN Niemann-Pick disease, type C1 precursor 679 SSD.|Helical; (Potential). autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity ovary(2) 2 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) CAAGGGCAACCCAATGTAGCT 0.547 NA 161 53 1.12e-49 1.65e-49 1 0 ASXL3 80816 broad.mit.edu 37 18 31318971 31318971 + Missense_Mutation SNP G G A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr18:31318971G>A uc010dmg.1 + 11 1658 c.1603G>A c.(1603-1605)GAT>AAT p.D535N ASXL3_uc002kxq.2_Missense_Mutation_p.D242N NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 535 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 AGTTGTTATCGATCAGTTAGA 0.393 NA 14 57 0 0 0 0 ASXL3 80816 broad.mit.edu 37 18 31326256 31326256 + Missense_Mutation SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr18:31326256G>T uc010dmg.1 + 12 6499 c.6444G>T c.(6442-6444)CAG>CAT p.Q2148H ASXL3_uc002kxq.2_Missense_Mutation_p.Q1855H NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 2148 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 AGCAACAACAGCAGCTCTGTG 0.433 NA 225 117 1.76e-104 2.66e-104 1 0 SYT4 6860 broad.mit.edu 37 18 40850486 40850486 + Silent SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr18:40850486G>T uc002law.2 - 4 1467 c.1098C>A c.(1096-1098)GGC>GGA p.G366G SYT4_uc010dng.2_RNA|SYT4_uc010xcm.1_Silent_p.G348G|SYT4_uc010dnh.2_RNA NM_020783 NP_065834 Q9H2B2 SYT4_HUMAN synaptotagmin IV 366 C2 2.|Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane transporter activity skin(5) 5 TATCTTCAAGGCCCTCACAAG 0.433 NA 54 35 1.67e-32 2.36e-32 1 0 CDC34 997 broad.mit.edu 37 19 532007 532007 + Missense_Mutation SNP G G A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr19:532007G>A uc002lov.2 + 1 275 c.76G>A c.(76-78)GAG>AAG p.E26K NM_004359 NP_004350 P49427 UB2R1_HUMAN ubiquitin-conjugating enzyme Cdc34 26 DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination cytoplasm|nucleus ATP binding|protein binding|ubiquitin-protein ligase activity 0 all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGAGCCGGTCGAGGGATTCCG 0.672 NA 3 3 0 0 0 0 UBXN6 80700 broad.mit.edu 37 19 4454069 4454069 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr19:4454069C>A uc002man.1 - 2 201 c.105G>T c.(103-105)AAG>AAT p.K35N UBXN6_uc010dty.1_5'UTR|UBXN6_uc002mam.1_5'UTR NM_025241 NP_079517 Q9BZV1 UBXN6_HUMAN UBX domain protein 6 35 microtubule organizing center|nucleus protein binding 0 GCTGGTTGGGCTTCTCTTTGT 0.657 NA 143 34 3.37e-63 5.05e-63 1 0 MUC16 94025 broad.mit.edu 37 19 9071035 9071035 + Missense_Mutation SNP T T C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr19:9071035T>C uc002mkp.2 - 3 16615 c.16411A>G c.(16411-16413)ATC>GTC p.I5471V NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 5473 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GTCTGAGAGATATTAGGAGTT 0.507 NA 140 21 0 0 0 0 CYP4F12 66002 broad.mit.edu 37 19 15807871 15807871 + Silent SNP G G A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr19:15807871G>A uc002nbl.2 + 13 1612 c.1551G>A c.(1549-1551)GAG>GAA p.E517E NM_023944 NP_076433 cytochrome P450, family 4, subfamily F, skin(3)|ovary(2)|central_nervous_system(2) 7 Acute lymphoblastic leukemia(2;0.0367) TGCGGGTGGAGCCCCTGAATG 0.567 NA 45 81 0 0 0 0 ISYNA1 51477 broad.mit.edu 37 19 18545774 18545774 + Silent SNP G G A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr19:18545774G>A uc002njd.1 - 11 1676 c.1626C>T c.(1624-1626)ACC>ACT p.T542T ISYNA1_uc002nja.1_Silent_p.T414T|ISYNA1_uc002njb.1_Silent_p.T460T|ISYNA1_uc002njc.1_Silent_p.T392T|ISYNA1_uc010xqh.1_Silent_p.T340T|ISYNA1_uc002nje.1_Silent_p.T488T|ISYNA1_uc002njf.1_Silent_p.T392T NM_016368 NP_057452 Q9NPH2 INO1_HUMAN inositol-3-phosphate synthase 1 542 inositol biosynthetic process|phospholipid biosynthetic process cytoplasm binding|inositol-3-phosphate synthase activity ovary(1)|pancreas(1) 2 TGGCATCACCGGTGCAGCCAT 0.647 NA 4 142 0 0 0 0 ZNF208 7757 broad.mit.edu 37 19 22155761 22155761 + Missense_Mutation SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr19:22155761G>T uc002nqp.2 - 5 1924 c.1775C>A c.(1774-1776)CCC>CAC p.P592H ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) ACATTTGTAGGGTTTCTCTCC 0.383 NA 47 99 4.33e-22 5.81e-22 1 0 ZNF98 148198 broad.mit.edu 37 19 22574982 22574982 + Missense_Mutation SNP C C T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr19:22574982C>T uc002nqt.2 - 4 1177 c.1055G>A c.(1054-1056)TGT>TAT p.C352Y NM_001098626 NP_001092096 A6NK75 ZNF98_HUMAN zinc finger protein 98 352 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) ACATTCTTCACATTTGTAGAA 0.393 NA 14 38 0 0 0 0 ZNF99 7652 broad.mit.edu 37 19 22941189 22941189 + Missense_Mutation SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr19:22941189G>T uc010xrh.1 - 5 1249 c.1249C>A c.(1249-1251)CCT>ACT p.P417T NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) CATTTGCAAGGTTTCTCTTCC 0.353 NA 50 65 7.05e-20 9.31e-20 1 0 CCNE1 898 broad.mit.edu 37 19 30312979 30312979 + Missense_Mutation SNP A A G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr19:30312979A>G uc002nsn.2 + 9 965 c.782A>G c.(781-783)GAC>GGC p.D261G CCNE1_uc002nso.2_Missense_Mutation_p.D246G|CCNE1_uc002nsp.2_Missense_Mutation_p.D8G NM_001238 NP_001229 P24864 CCNE1_HUMAN cyclin E1 isoform 1 261 androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol|nucleoplasm androgen receptor binding|protein kinase binding|transcription coactivator activity lung(2) 2 all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202) TATCTAAATGACTTACATGAA 0.473 NA 99 120 0 0 0 0 SIGLEC9 27180 broad.mit.edu 37 19 51631242 51631242 + Missense_Mutation SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr19:51631242G>T uc002pvu.2 + 5 1119 c.1052G>T c.(1051-1053)GGG>GTG p.G351V SIGLEC9_uc010yct.1_Missense_Mutation_p.G351V NM_014441 NP_055256 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 precursor 351 Helical; (Potential). cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding skin(1) 1 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) GGGGTGGTCGGGGGAGCTGGA 0.552 NA 83 233 1.47e-35 2.11e-35 1 0 ZNF845 91664 broad.mit.edu 37 19 53856114 53856114 + Missense_Mutation SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr19:53856114G>T uc010ydv.1 + 4 2303 c.2186G>T c.(2185-2187)AGT>ATT p.S729I ZNF845_uc010ydw.1_Missense_Mutation_p.S729I NM_138374 NP_612383 Q96IR2 ZN845_HUMAN zinc finger protein 845 729 C2H2-type 19. Missing (in Ref. 1; BAG58121). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AAGGCCTTCAGTCAGAAGTCA 0.418 NA 55 102 5.39e-20 7.14e-20 1 0 LAIR1 3903 broad.mit.edu 37 19 54868568 54868568 + Silent SNP C C T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr19:54868568C>T uc002qfk.1 - 5 733 c.423G>A c.(421-423)ACG>ACA p.T141T LAIR1_uc002qfl.1_Silent_p.T124T|LAIR1_uc002qfm.1_Silent_p.T140T|LAIR1_uc002qfn.1_Silent_p.T123T|LAIR1_uc010yex.1_Silent_p.T134T|LAIR1_uc002qfo.2_Silent_p.T123T NM_002287 NP_002278 Q6GTX8 LAIR1_HUMAN leukocyte-associated immunoglobulin-like 141 Extracellular (Potential). integral to membrane|plasma membrane protein binding|receptor activity ovary(4) 4 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0573) ACGGCCTCTGCGTGGGTCCTG 0.522 NA 14 19 0 0 0 0 LILRA2 11027 broad.mit.edu 37 19 55087544 55087544 + Missense_Mutation SNP T T A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr19:55087544T>A uc002qgg.3 + 6 1312 c.1223T>A c.(1222-1224)CTC>CAC p.L408H LILRA2_uc010ern.2_Missense_Mutation_p.L408H|LILRA2_uc002qgf.2_Missense_Mutation_p.L408H|LILRA2_uc010yfe.1_Missense_Mutation_p.L408H|LILRA2_uc010yff.1_Missense_Mutation_p.L396H|LILRA2_uc010ero.2_Missense_Mutation_p.L396H|LILRA2_uc010yfg.1_Intron NM_001130917 NP_001124389 Q8N149 LIRA2_HUMAN leukocyte immunoglobulin-like receptor, 408 Ig-like C2-type 4.|Extracellular (Potential). defense response integral to membrane antigen binding|receptor activity ovary(1) 1 GBM - Glioblastoma multiforme(193;0.0963) CTGCTGTCTCTCCCCAGTGAC 0.622 NA 79 114 0 0 0 0 LILRA1 11024 broad.mit.edu 37 19 55106644 55106644 + Silent SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr19:55106644C>A uc002qgh.1 + 5 620 c.438C>A c.(436-438)GTC>GTA p.V146V LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Silent_p.V146V NM_006863 NP_006854 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, 146 Ig-like C2-type 2.|Extracellular (Potential). cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(193;0.0348) TCCATTGTGTCTCACAGGTGG 0.567 NA 79 110 1.4e-30 1.96e-30 1 0 KIR3DL1 3811 broad.mit.edu 37 19 55341657 55341657 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr19:55341657C>A uc002qhk.3 + 9 1325 c.1262C>A c.(1261-1263)CCC>CAC p.P421H KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Missense_Mutation_p.P346H|KIR3DL1_uc010esf.2_Missense_Mutation_p.P326H|KIR3DL1_uc010yfo.1_Missense_Mutation_p.P363H|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_5'Flank|KIR2DS4_uc002qhm.1_5'Flank NM_013289 NP_037421 P43629 KI3L1_HUMAN killer cell immunoglobulin-like receptor, three 421 Cytoplasmic (Potential). immune response|regulation of immune response integral to plasma membrane HLA-B specific inhibitory MHC class I receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1) 5 GBM - Glioblastoma multiforme(193;0.0192) CCCAAGACACCCCCTACAGAT 0.512 NA 196 35 2.92e-67 4.38e-67 1 0 NLRP11 204801 broad.mit.edu 37 19 56300317 56300317 + Missense_Mutation SNP G G C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr19:56300317G>C uc010ygf.1 - 11 3422 c.2711C>G c.(2710-2712)GCC>GGC p.A904G NLRP11_uc002qlz.2_Missense_Mutation_p.A751G|NLRP11_uc002qmb.2_Missense_Mutation_p.A805G|NLRP11_uc002qmc.2_RNA NM_145007 NP_659444 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 904 ATP binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) TCGACAGCAGGCACTGGTTAA 0.458 NA 21 53 0 0 0 0 NLRP4 147945 broad.mit.edu 37 19 56390176 56390176 + Missense_Mutation SNP T T A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr19:56390176T>A uc002qmd.3 + 9 3135 c.2713T>A c.(2713-2715)TTA>ATA p.L905I NLRP4_uc002qmf.2_Missense_Mutation_p.L830I|NLRP4_uc010etf.2_Missense_Mutation_p.L680I NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 905 ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) AGAATGTGGGTTAACGAGCAC 0.532 NA 17 20 0 0 0 0 NLRP5 126206 broad.mit.edu 37 19 56539074 56539074 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr19:56539074C>A uc002qmj.2 + 7 1475 c.1475C>A c.(1474-1476)GCC>GAC p.A492D NLRP5_uc002qmi.2_Missense_Mutation_p.A473D NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 492 NACHT. mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) GAGAGCGTCGCCCCCTTCAAC 0.632 NA 26 32 1.43e-11 1.72e-11 1 0 ZIM3 114026 broad.mit.edu 37 19 57647166 57647166 + Nonsense_Mutation SNP G G C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr19:57647166G>C uc002qnz.1 - 5 925 c.539C>G c.(538-540)TCA>TGA p.S180* NM_052882 NP_443114 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 180 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1)|skin(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TTGAAGGCGTGACTTTGAACT 0.398 NA 232 171 0 0 0 0 ZNF264 9422 broad.mit.edu 37 19 57723577 57723577 + Missense_Mutation SNP A A C rs139216855 TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr19:57723577A>C uc002qob.2 + 4 1525 c.1112A>C c.(1111-1113)TAT>TCT p.Y371S NM_003417 NP_003408 O43296 ZN264_HUMAN zinc finger protein 264 371 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135) GAGAAGCCCTATGAGTGCAGT 0.517 NA 52 138 0 0 0 0 NTSR2 23620 broad.mit.edu 37 2 11802111 11802111 + Missense_Mutation SNP G G A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr2:11802111G>A uc002rbq.3 - 2 954 c.880C>T c.(880-882)CGC>TGC p.R294C NM_012344 NP_036476 O95665 NTR2_HUMAN neurotensin receptor 2 294 Cytoplasmic (Potential). sensory perception integral to plasma membrane 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24) Levocabastine(DB01106) TGGACGCTGCGCTGGAGGCTG 0.428 NA 82 123 0 0 0 0 DPYSL5 56896 broad.mit.edu 37 2 27169818 27169819 + Silent DNP TC TC CA TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr2:27169818_27169819TC>CA uc002rhu.3 + 13 1808_1809 c.1650_1651TC>CA c.(1648-1653)GCTCGG>GCCAGG p.550_551AR>AR DPYSL5_uc002rhv.3_Silent_p.550_551AR>AR NM_020134 NP_064519 Q9BPU6 DPYL5_HUMAN dihydropyrimidinase-like 5 550_551 axon guidance|pyrimidine base catabolic process|signal transduction cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides ovary(2) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GAGCTTCAGCTCGGATCCTCGC 0.604 NA 5 36 0 0 0 0 GALNT14 79623 broad.mit.edu 37 2 31167748 31167748 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr2:31167748C>A uc002rnr.2 - 8 1422 c.803G>T c.(802-804)CGC>CTC p.R268L GALNT14_uc002rnq.2_Missense_Mutation_p.R248L|GALNT14_uc002rns.2_Missense_Mutation_p.R273L|GALNT14_uc010ymr.1_Missense_Mutation_p.R233L|GALNT14_uc010ezo.1_Missense_Mutation_p.R235L|GALNT14_uc010ezp.1_Intron NM_024572 NP_078848 Q96FL9 GLT14_HUMAN N-acetylgalactosaminyltransferase 14 268 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding upper_aerodigestive_tract(2)|skin(1) 3 Acute lymphoblastic leukemia(172;0.155) GGGGTCCAGGCGCCGAGCCTT 0.587 NA 51 80 4.96e-28 6.9e-28 1 0 FAM161A 84140 broad.mit.edu 37 2 62081004 62081004 + Missense_Mutation SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr2:62081004G>T uc010ypo.1 - 1 275 c.173C>A c.(172-174)GCT>GAT p.A58D FAM161A_uc002sbm.3_Missense_Mutation_p.A58D|FAM161A_uc002sbn.3_Translation_Start_Site|FAM161A_uc010fcm.1_RNA|FAM161A_uc010fcn.1_Translation_Start_Site NM_032180 NP_115556 Q3B820 F161A_HUMAN hypothetical protein LOC84140 58 response to stimulus|visual perception centrosome large_intestine(2)|ovary(1) 3 CGATGCCCCAGCGGGCTGAGC 0.682 NA 22 34 7.32e-31 1.03e-30 1 0 CYP26B1 56603 broad.mit.edu 37 2 72361927 72361927 + Missense_Mutation SNP T T A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr2:72361927T>A uc002sih.1 - 4 824 c.824A>T c.(823-825)AAG>ATG p.K275M CYP26B1_uc010yra.1_Missense_Mutation_p.K258M|CYP26B1_uc010yrb.1_Missense_Mutation_p.K200M NM_019885 NP_063938 Q9NR63 CP26B_HUMAN cytochrome P450, family 26, subfamily b, 275 cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding skin(2) 2 CCCGTGCTCCTTGCTGCTCTC 0.622 NA 19 43 0 0 0 0 LOXL3 84695 broad.mit.edu 37 2 74763560 74763560 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr2:74763560C>A uc002smp.1 - 6 1023 c.951G>T c.(949-951)GAG>GAT p.E317D LOXL3_uc002smo.1_Translation_Start_Site|LOXL3_uc010ffm.1_Missense_Mutation_p.E317D|LOXL3_uc002smq.1_Missense_Mutation_p.E172D|LOXL3_uc010ffn.1_Missense_Mutation_p.E172D NM_032603 NP_115992 P58215 LOXL3_HUMAN lysyl oxidase-like 3 precursor 317 SRCR 3. extracellular space|membrane copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity 0 CTACCCGGCCCTCTCCAGGGT 0.622 NA 33 41 1.08e-15 1.38e-15 1 0 LRRTM4 80059 broad.mit.edu 37 2 77745800 77745800 + Missense_Mutation SNP A A G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr2:77745800A>G uc002snr.2 - 3 1610 c.1195T>C c.(1195-1197)TTT>CTT p.F399L LRRTM4_uc002snq.2_Missense_Mutation_p.F399L|LRRTM4_uc002sns.2_Missense_Mutation_p.F399L|LRRTM4_uc002snt.2_Missense_Mutation_p.F400L NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 399 Extracellular (Potential). integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) GGTGTTTCAAAGGTGGATTGG 0.493 NA 37 70 0 0 0 0 LRRTM1 347730 broad.mit.edu 37 2 80530391 80530391 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr2:80530391C>A uc002sok.1 - 2 824 c.554G>T c.(553-555)CGC>CTC p.R185L CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA NM_178839 NP_849161 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 185 Lumenal (Potential). axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 CTTGAGGCTGCGGCAGTCCTG 0.607 NA HNSCC(69;0.2) 41 44 3.05e-18 3.97e-18 1 0 LRRTM1 347730 broad.mit.edu 37 2 80530685 80530685 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr2:80530685C>A uc002sok.1 - 2 530 c.260G>T c.(259-261)GGG>GTG p.G87V CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA NM_178839 NP_849161 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 87 Lumenal (Potential). axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 CTGCATTAACCCCGTGAACTG 0.622 NA HNSCC(69;0.2) 66 112 9.08e-34 1.29e-33 1 0 SLC35F5 80255 broad.mit.edu 37 2 114492205 114492205 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr2:114492205C>A uc002tku.1 - 9 1302 c.878G>T c.(877-879)GGA>GTA p.G293V SLC35F5_uc002tkt.2_RNA NM_025181 NP_079457 Q8WV83 S35F5_HUMAN solute carrier family 35, member F5 293 DUF6. transport integral to membrane 0 AAATCTATCTCCACTGTTACT 0.303 NA 51 43 3.28e-27 4.55e-27 1 0 DPP10 57628 broad.mit.edu 37 2 116510867 116510867 + Silent SNP T T C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr2:116510867T>C uc002tla.1 + 11 1525 c.1068T>C c.(1066-1068)TGT>TGC p.C356C DPP10_uc002tlb.1_Silent_p.C306C|DPP10_uc002tlc.1_Silent_p.C352C|DPP10_uc002tle.2_Silent_p.C360C|DPP10_uc002tlf.1_Silent_p.C349C NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 356 Extracellular (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 CAGGTGCTTGTAGTAAAGTGA 0.368 NA 29 66 0 0 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125192236 125192236 + Missense_Mutation SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr2:125192236G>T uc002tno.2 + 5 1069 c.705G>T c.(703-705)AAG>AAT p.K235N CNTNAP5_uc010flu.2_Missense_Mutation_p.K235N NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 235 Laminin G-like 1.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) AACTCCAGAAGGGGAGGCTCG 0.532 NA 16 36 6.5e-13 8.05e-13 1 0 CNTNAP5 129684 broad.mit.edu 37 2 125284872 125284872 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr2:125284872C>A uc002tno.2 + 10 1849 c.1485C>A c.(1483-1485)GAC>GAA p.D495E CNTNAP5_uc010flu.2_Missense_Mutation_p.D496E NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 495 Laminin G-like 2.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) GGTGCCCCGACAATCTCACCG 0.448 NA 23 75 0.000229342 0.000246257 1 0 CYP27C1 339761 broad.mit.edu 37 2 127950815 127950815 + Missense_Mutation SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr2:127950815G>T uc002tod.2 - 7 988 c.857C>A c.(856-858)GCC>GAC p.A286D NM_001001665 NP_001001665 Q4G0S4 C27C1_HUMAN cytochrome P450, family 27, subfamily C, 286 membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen 0 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.071) GAACTCCTTGGCCCGAGGGAA 0.537 NA 81 77 1.39e-53 2.07e-53 1 0 LCT 3938 broad.mit.edu 37 2 136564931 136564931 + Missense_Mutation SNP C C T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr2:136564931C>T uc002tuu.1 - 9 3951 c.3940G>A c.(3940-3942)GTC>ATC p.V1314I NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 1314 3.|Extracellular (Potential).|4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) GACCAGGCGACATACCCTCGA 0.527 NA 49 23 0 0 0 0 LRP1B 53353 broad.mit.edu 37 2 141777503 141777503 + Missense_Mutation SNP T T C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr2:141777503T>C uc002tvj.1 - 12 2930 c.1958A>G c.(1957-1959)GAT>GGT p.D653G LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 653 Extracellular (Potential).|LDL-receptor class B 6. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATTAACTGGATCCACCACAAT 0.333 NA TSP Lung(27;0.18) 49 17 0 0 0 0 PSMD14 10213 broad.mit.edu 37 2 162247657 162247657 + Missense_Mutation SNP A A G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr2:162247657A>G uc002ubu.2 + 9 1080 c.613A>G c.(613-615)ATT>GTT p.I205V NM_005805 NP_005796 O00487 PSDE_HUMAN proteasome 26S subunit, non-ATPase 14 205 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K63-linked deubiquitination|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex endopeptidase activator activity|metal ion binding|metallopeptidase activity|proteasome binding|ubiquitin thiolesterase activity breast(1) 1 CTCCATTACTATTAACTATCG 0.249 NA 3 2 0 0 0 0 IFIH1 64135 broad.mit.edu 37 2 163133239 163133239 + Silent SNP C C G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr2:163133239C>G uc002uce.2 - 11 2484 c.2262G>C c.(2260-2262)CTG>CTC p.L754L NM_022168 NP_071451 Q9BYX4 IFIH1_HUMAN interferon induced with helicase C domain 1 754 Helicase C-terminal. detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding ovary(1) 1 CAGCTCCAATCAGATGGTGGG 0.338 NA 88 39 0 0 0 0 FIGN 55137 broad.mit.edu 37 2 164467857 164467857 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr2:164467857C>A uc002uck.1 - 3 796 c.485G>T c.(484-486)AGT>ATT p.S162I NM_018086 NP_060556 Q5HY92 FIGN_HUMAN fidgetin 162 nuclear matrix ATP binding|nucleoside-triphosphatase activity large_intestine(2)|ovary(1)|skin(1) 4 ACTTGAATAACTAGGTTCTGT 0.517 NA 41 20 2.25e-16 2.89e-16 1 0 GRB14 2888 broad.mit.edu 37 2 165381587 165381587 + Missense_Mutation SNP T T C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr2:165381587T>C uc002ucl.2 - 5 1146 c.605A>G c.(604-606)TAT>TGT p.Y202C GRB14_uc010zcv.1_Missense_Mutation_p.Y115C|GRB14_uc002ucm.2_RNA NM_004490 NP_004481 Q14449 GRB14_HUMAN growth factor receptor-bound protein 14 202 blood coagulation|leukocyte migration cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane SH3/SH2 adaptor activity ovary(5)|upper_aerodigestive_tract(1)|lung(1) 7 TGGAAAAAAATACTGTCAAAA 0.254 NA 42 15 0 0 0 0 SCN1A 6323 broad.mit.edu 37 2 166854615 166854615 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr2:166854615C>A uc010zcz.1 - 23 4394 c.4376G>T c.(4375-4377)GGG>GTG p.G1459V SCN1A_uc002udo.3_Missense_Mutation_p.G1339V|SCN1A_uc010fpk.2_Missense_Mutation_p.G1311V NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1470 Helical; Name=S6 of repeat III; (By similarity).|III. voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GAAGAAGGACCCAAAGATGAT 0.338 NA 43 13 4.16e-14 5.19e-14 1 0 TTN 7273 broad.mit.edu 37 2 179454011 179454011 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr2:179454011C>A uc010zfg.1 - 253 54961 c.54737G>T c.(54736-54738)AGA>ATA p.R18246I uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R11941I|TTN_uc010zfi.1_Missense_Mutation_p.R11874I|TTN_uc010zfj.1_Missense_Mutation_p.R11749I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 19173 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R11749T(1)|p.R18244T(1) ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCTTGGTGATCTTGTTAAGTC 0.453 NA 93 226 1.42e-38 2.06e-38 1 0 TTN 7273 broad.mit.edu 37 2 179537203 179537203 + Nonsense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr2:179537203C>A uc010zfg.1 - 149 31182 c.30958G>T c.(30958-30960)GAA>TAA p.E10320* TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.E6981*|TTN_uc010fre.1_Intron|TTN_uc010zfk.1_5'Flank|TTN_uc002una.1_RNA|TTN_uc010frf.1_RNA NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 11247 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTGGTACTTCAGGCACTTTA 0.373 NA 115 370 1.19e-50 1.76e-50 1 0 TTN 7273 broad.mit.edu 37 2 179553841 179553841 + Silent SNP G G C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr2:179553841G>C uc010zfg.1 - 122 28526 c.28302C>G c.(28300-28302)CCC>CCG p.P9434P TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.P6095P|TTN_uc010fre.1_Silent_p.P545P NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 10361 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCTCTGGGACGGGTTTCTTAG 0.433 NA 90 69 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179583701 179583701 + Splice_Site SNP C C G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr2:179583701C>G uc010zfg.1 - 81 20719 c.20495_splice c.e81-1 p.E6832_splice TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Splice_Site_p.E3493_splice NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GATGGTGGTTCTAGATATTGC 0.438 NA 23 17 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179590292 179590292 + Missense_Mutation SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr2:179590292G>T uc010zfg.1 - 68 17131 c.16907C>A c.(16906-16908)GCC>GAC p.A5636D TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A2297D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 6563 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AATAGGCTGGGCGCCTTCTAT 0.428 NA 68 53 3.31e-33 4.69e-33 1 0 TTN 7273 broad.mit.edu 37 2 179659844 179659844 + Nonsense_Mutation SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr2:179659844G>T uc010zfg.1 - 7 1274 c.1050C>A c.(1048-1050)TAC>TAA p.Y350* TTN_uc010zfh.1_Nonsense_Mutation_p.Y350*|TTN_uc010zfi.1_Nonsense_Mutation_p.Y350*|TTN_uc010zfj.1_Nonsense_Mutation_p.Y350*|TTN_uc002unb.2_Nonsense_Mutation_p.Y350*|TTN_uc010frg.1_Nonsense_Mutation_p.Y24* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 350 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGGAGGCCACGTAGCCCTCTT 0.557 NA 49 102 2.69e-26 3.72e-26 1 0 DNAH7 56171 broad.mit.edu 37 2 196723252 196723252 + Silent SNP A A T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr2:196723252A>T uc002utj.3 - 43 8114 c.8013T>A c.(8011-8013)GGT>GGA p.G2671G NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2671 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 TTGGCAAGGCACCTGCCAGGT 0.458 NA 31 20 0 0 0 0 ABCA12 26154 broad.mit.edu 37 2 215917308 215917308 + Missense_Mutation SNP G G A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr2:215917308G>A uc002vew.2 - 5 630 c.410C>T c.(409-411)GCC>GTC p.A137V ABCA12_uc010zjn.1_5'UTR NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 137 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 11 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) AAATACTGTGGCTGTAATCAA 0.428 NA 35 13 0 0 0 0 TRIP12 9320 broad.mit.edu 37 2 230652326 230652326 + Silent SNP T T C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr2:230652326T>C uc002vpw.1 - 32 4774 c.4665A>G c.(4663-4665)GCA>GCG p.A1555A TRIP12_uc002vpx.1_Silent_p.A1603A|TRIP12_uc002vpy.1_Silent_p.A1285A NM_004238 NP_004229 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 1555 K-box. protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1) 9 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) CCCGATCAAATGCAGTTACAT 0.378 NA 53 20 0 0 0 0 EIF6 3692 broad.mit.edu 37 20 33867551 33867551 + Splice_Site SNP C C T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr20:33867551C>T uc002xbv.1 - 5 763 c.547_splice c.e5-1 p.A183_splice EDEM2_uc010zuv.1_5'Flank|EIF6_uc002xbx.1_Splice_Site_p.A183_splice|EIF6_uc002xbz.1_Splice_Site_p.A164_splice|EIF6_uc002xby.1_Splice_Site NM_181468 NP_852133 P56537 IF6_HUMAN eukaryotic translation initiation factor 6 mature ribosome assembly cytoplasm|nucleolus protein binding|ribosome binding|translation initiation factor activity pancreas(1) 1 BRCA - Breast invasive adenocarcinoma(18;0.00252) CAGTCCCCGCCTGCCAAGGGA 0.587 NA 36 50 0 0 0 0 C20orf135 140701 broad.mit.edu 37 20 62493607 62493607 + Silent SNP C C G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr20:62493607C>G uc002ygx.1 + 1 1042 c.714C>G c.(712-714)CCC>CCG p.P238P TPD52L2_uc002ygy.2_5'Flank|TPD52L2_uc002ygz.2_5'Flank|TPD52L2_uc002yha.2_5'Flank|TPD52L2_uc002yhb.2_5'Flank|TPD52L2_uc002yhc.2_5'Flank|TPD52L2_uc002yhd.2_5'Flank|TPD52L2_uc011abk.1_5'Flank|TPD52L2_uc011abl.1_5'Flank NM_080622 NP_542189 Q9H3Z7 ABHGB_HUMAN hypothetical protein LOC140701 238 hydrolase activity 0 all_cancers(38;1.77e-12)|all_epithelial(29;3.12e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09) ACTTCCCGCCCGCGCACCTGG 0.687 NA 10 19 0 0 0 0 KRTAP20-2 337976 broad.mit.edu 37 21 32007617 32007617 + Missense_Mutation SNP G G A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr21:32007617G>A uc011adg.1 + 1 35 c.35G>A c.(34-36)CGT>CAT p.R12H NM_181616 NP_853647 Q3LI61 KR202_HUMAN keratin associated protein 20-2 12 intermediate filament central_nervous_system(1) 1 GGTGGTCTGCGTTATGGCTAT 0.522 NA 50 74 0 0 0 0 SYNJ1 8867 broad.mit.edu 37 21 34011284 34011284 + Silent SNP T T A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr21:34011284T>A uc002yqh.2 - 31 3966 c.3966A>T c.(3964-3966)CCA>CCT p.P1322P SYNJ1_uc011ads.1_Silent_p.P1236P|SYNJ1_uc002yqf.2_Silent_p.P1267P|SYNJ1_uc002yqg.2_Silent_p.P1236P|SYNJ1_uc002yqi.2_Silent_p.P1322P|SYNJ1_uc002yqe.3_5'UTR NM_003895 NP_003886 O43426 SYNJ1_HUMAN synaptojanin 1 isoform a 1283 Pro-rich. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding ovary(4)|skin(1) 5 GTGGTTGTGGTGGGGTTTCCA 0.507 NA 142 238 0 0 0 0 KRTAP12-2 353323 broad.mit.edu 37 21 46086539 46086539 + Missense_Mutation SNP T T C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr21:46086539T>C uc002zfu.2 - 1 306 c.265A>G c.(265-267)AGC>GGC p.S89G C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_181684 NP_859012 P59991 KR122_HUMAN keratin associated protein 12-2 89 14.|23 X 5 AA approximate repeats. keratin filament 0 GGCCTGCAGCTCACAGGCACA 0.632 NA 31 44 0 0 0 0 PCNT 5116 broad.mit.edu 37 21 47821491 47821491 + Silent SNP G G A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr21:47821491G>A uc002zji.3 + 26 4925 c.4818G>A c.(4816-4818)CAG>CAA p.Q1606Q PCNT_uc002zjj.2_Silent_p.Q1488Q NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 1606 Potential. cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) AGAAACAGCAGATGAGTAGCT 0.453 NA 51 93 0 0 0 0 DIP2A 23181 broad.mit.edu 37 21 47910617 47910617 + Missense_Mutation SNP G G A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr21:47910617G>A uc002zjo.2 + 3 451 c.268G>A c.(268-270)GAG>AAG p.E90K DIP2A_uc011afy.1_Intron|DIP2A_uc011afz.1_Missense_Mutation_p.E90K|DIP2A_uc002zjl.2_Missense_Mutation_p.E90K|DIP2A_uc002zjm.2_Missense_Mutation_p.E90K|DIP2A_uc010gql.2_Missense_Mutation_p.E90K|DIP2A_uc002zjn.2_Missense_Mutation_p.E90K NM_015151 NP_055966 Q14689 DIP2A_HUMAN disco-interacting protein 2A isoform a 90 multicellular organismal development nucleus catalytic activity|transcription factor binding ovary(2) 2 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) CTCGAGGGATGAGCGCTTCCG 0.592 NA 6 7 0 0 0 0 C22orf39 128977 broad.mit.edu 37 22 19431847 19431847 + Missense_Mutation SNP G G C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr22:19431847G>C uc002zpk.1 - 3 268 c.259C>G c.(259-261)CCG>GCG p.P87A HIRA_uc010gro.1_Intron|HIRA_uc010grp.2_Intron|C22orf39_uc002zpi.2_Intron|C22orf39_uc002zpj.2_5'Flank NM_173793 NP_776154 Q6P5X5 CV039_HUMAN hypothetical protein LOC128977 87 0 Colorectal(54;0.0993) CTCTGCCTCGGGGCCCACACC 0.622 NA 26 44 0 0 0 0 CDC45 8318 broad.mit.edu 37 22 19471512 19471512 + Missense_Mutation SNP G G A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr22:19471512G>A uc002zpr.2 + 5 546 c.470G>A c.(469-471)CGC>CAC p.R157H CDC45_uc011agz.1_Missense_Mutation_p.R152H|CDC45_uc011aha.1_Missense_Mutation_p.R157H|CDC45_uc002zps.2_Missense_Mutation_p.R157H|CDC45_uc002zpt.2_Missense_Mutation_p.R111H NM_003504 NP_003495 O75419 CDC45_HUMAN CDC45-like 157 DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle centrosome|nucleoplasm protein binding lung(1) 1 TCTGAGAAGCGCACACGGTTA 0.517 NA 5 113 0 0 0 0 MYO18B 84700 broad.mit.edu 37 22 26423401 26423401 + Silent SNP G G C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr22:26423401G>C uc003abz.1 + 43 7711 c.7461G>C c.(7459-7461)GGG>GGC p.G2487G MYO18B_uc003aca.1_Silent_p.G2368G|MYO18B_uc010guy.1_Silent_p.G2369G|MYO18B_uc010guz.1_Silent_p.G2367G|MYO18B_uc011aka.1_Silent_p.G1641G|MYO18B_uc011akb.1_Silent_p.G2000G|MYO18B_uc010gva.1_Silent_p.G470G|MYO18B_uc010gvb.1_RNA NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2487 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 TTCTCTCGGGGATCAAGACCA 0.547 NA 20 34 0 0 0 0 MCM5 4174 broad.mit.edu 37 22 35804507 35804507 + Missense_Mutation SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr22:35804507G>T uc003anu.3 + 6 797 c.703G>T c.(703-705)GCA>TCA p.A235S MCM5_uc010gwr.2_Missense_Mutation_p.A44S|MCM5_uc003anv.3_Missense_Mutation_p.A192S|MCM5_uc010gws.1_RNA|MCM5_uc003anw.1_5'Flank NM_006739 NP_006730 P33992 MCM5_HUMAN minichromosome maintenance complex component 5 235 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding ovary(1) 1 GCTGCCTGATGCAGTCCCCCA 0.617 NA 42 48 9.85e-19 1.29e-18 1 0 SSTR3 6753 broad.mit.edu 37 22 37603211 37603211 + Missense_Mutation SNP G G A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr22:37603211G>A uc003ara.2 - 2 694 c.632C>T c.(631-633)GCC>GTC p.A211V SSTR3_uc003arb.2_Missense_Mutation_p.A211V NM_001051 NP_001042 P32745 SSR3_HUMAN somatostatin receptor 3 211 Helical; Name=5; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation integral to plasma membrane|nonmotile primary cilium somatostatin receptor activity lung(1) 1 GCCCAGTGCGGCCGTGTAGAT 0.692 NA 18 32 0 0 0 0 TRIOBP 11078 broad.mit.edu 37 22 38119740 38119740 + Missense_Mutation SNP C C G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr22:38119740C>G uc003atr.2 + 7 1448 c.1177C>G c.(1177-1179)CCC>GCC p.P393A TRIOBP_uc003atu.2_Missense_Mutation_p.P221A|TRIOBP_uc003atq.1_Missense_Mutation_p.P393A|TRIOBP_uc003ats.1_Missense_Mutation_p.P221A NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein isoform 6 393 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1) 1 Melanoma(58;0.0574) AGCCTCCTCTCCCAACAGAAC 0.562 NA 96 102 0 0 0 0 EP300 2033 broad.mit.edu 37 22 41574850 41574850 + Missense_Mutation SNP A A C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr22:41574850A>C uc003azl.3 + 31 7530 c.7135A>C c.(7135-7137)AAT>CAT p.N2379H NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 2379 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 GCTTGCTAGCAATCCAGGCAT 0.537 NA T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome 43 51 0 0 0 0 GRM7 2917 broad.mit.edu 37 3 7494344 7494344 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr3:7494344C>A uc003bqm.2 + 6 1499 c.1225C>A c.(1225-1227)CAG>AAG p.Q409K GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.Q409K|GRM7_uc003bql.2_Missense_Mutation_p.Q409K|GRM7_uc003bqn.1_5'UTR|GRM7_uc010hch.1_5'UTR NM_000844 NP_000835 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 isoform a 409 Extracellular (Potential). negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding ovary(4)|lung(3) 7 L-Glutamic Acid(DB00142) GGGTAAAGTCCAGTTCGTGAT 0.413 NA 27 18 3.73e-12 4.56e-12 1 0 GRM7 2917 broad.mit.edu 37 3 7494377 7494377 + Missense_Mutation SNP C C G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr3:7494377C>G uc003bqm.2 + 6 1532 c.1258C>G c.(1258-1260)CAC>GAC p.H420D GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.H420D|GRM7_uc003bql.2_Missense_Mutation_p.H420D|GRM7_uc003bqn.1_Missense_Mutation_p.H3D|GRM7_uc010hch.1_5'UTR NM_000844 NP_000835 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 isoform a 420 Extracellular (Potential). negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding ovary(4)|lung(3) 7 L-Glutamic Acid(DB00142) TGCTATGGCTCACGCCCTTCA 0.488 NA 18 12 0 0 0 0 ATP2B2 491 broad.mit.edu 37 3 10428194 10428194 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr3:10428194C>A uc003bvt.2 - 7 1349 c.910G>T c.(910-912)GTG>TTG p.V304L ATP2B2_uc003bvv.2_Intron|ATP2B2_uc003bvw.2_Intron|ATP2B2_uc010hdo.2_Intron NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN plasma membrane calcium ATPase 2 isoform 1 304 Cytoplasmic (Potential). ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding ovary(3)|skin(2)|central_nervous_system(1) 6 CCCTTCTTCACACCTGTGTGA 0.398 NA 50 23 1.78e-24 2.43e-24 1 0 XCR1 2829 broad.mit.edu 37 3 46062615 46062615 + Silent SNP G G A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr3:46062615G>A uc003cpe.2 - 3 1049 c.825C>T c.(823-825)CTC>CTT p.L275L uc003cpd.1_5'Flank|XCR1_uc003cpf.2_Silent_p.L275L NM_005283 NP_005274 P46094 XCR1_HUMAN XC chemokine receptor 1 275 Helical; Name=7; (Potential). chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response integral to plasma membrane chemokine receptor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) GGGAGAAGGCGAGGTTGCGGC 0.567 NA 23 7 0 0 0 0 LOC646498 646498 broad.mit.edu 37 3 49227304 49227304 + Missense_Mutation SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr3:49227304G>T uc011bcj.1 - 1 124 c.118C>A c.(118-120)CTA>ATA p.L40I NM_001080528 NP_001073997 hypothetical LOC646498 0 BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.00221)|KIRC - Kidney renal clear cell carcinoma(197;0.00247) CCTGTCTGTAGGGGAAAGATC 0.522 NA 118 35 1.45e-55 2.16e-55 1 0 ABHD14A 25864 broad.mit.edu 37 3 52011936 52011936 + Missense_Mutation SNP T T C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr3:52011936T>C uc003dco.2 + 2 229 c.119T>C c.(118-120)CTG>CCG p.L40P ABHD14B_uc003dcn.2_Intron|ABHD14A_uc010hlz.2_Missense_Mutation_p.L40P|ACY1_uc011bea.1_5'UTR NM_015407 NP_056222 Q9BUJ0 ABHEA_HUMAN abhydrolase domain containing 14A 40 Helical; Signal-anchor for type II membrane protein; (Potential). cytoplasm|integral to membrane hydrolase activity 0 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) CTGCTGGGCCTGAGTCTGCTG 0.612 NA 4 202 0 0 0 0 LMOD3 56203 broad.mit.edu 37 3 69168975 69168975 + Silent SNP T T C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr3:69168975T>C uc003dns.2 - 2 740 c.531A>G c.(529-531)GCA>GCG p.A177A LMOD3_uc003dnt.2_Silent_p.A177A NM_198271 NP_938012 Q0VAK6 LMOD3_HUMAN leiomodin 3 (fetal) 177 Glu-rich. cytoplasm|cytoskeleton tropomyosin binding ovary(1) 1 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24) TTTGTTCCTTTGCTTTGCCTT 0.318 NA 10 5 0 0 0 0 CADM2 253559 broad.mit.edu 37 3 85851229 85851229 + Missense_Mutation SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr3:85851229G>T uc003dqj.2 + 2 720 c.94G>T c.(94-96)GTA>TTA p.V32L CADM2_uc003dqk.2_Missense_Mutation_p.V41L|CADM2_uc003dql.2_Missense_Mutation_p.V34L NM_153184 NP_694854 Q8N3J6 CADM2_HUMAN immunoglobulin superfamily, member 4D 32 Ig-like V-type.|Extracellular (Potential). adherens junction organization|cell junction assembly integral to membrane|plasma membrane ovary(1)|lung(1)|kidney(1)|skin(1) 4 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) AACACAGAATGTAACCGTTGT 0.403 NA 53 10 1.47e-25 2.02e-25 1 0 PROS1 5627 broad.mit.edu 37 3 93615489 93615489 + Nonsense_Mutation SNP A A T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr3:93615489A>T uc003drb.3 - 9 1237 c.896T>A c.(895-897)TTA>TAA p.L299* PROS1_uc010hoo.2_Nonsense_Mutation_p.L168*|PROS1_uc003dqz.3_Nonsense_Mutation_p.L168* NM_000313 NP_000304 P07225 PROS_HUMAN protein S, alpha preproprotein 299 Laminin G-like 1. leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity large_intestine(1) 1 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) CAAGTAAAGTAATTCATACTT 0.358 NA 79 242 0 0 0 0 ST3GAL6 10402 broad.mit.edu 37 3 98507004 98507004 + Missense_Mutation SNP C C G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr3:98507004C>G uc003dsz.2 + 7 792 c.556C>G c.(556-558)CTC>GTC p.L186V ST3GAL6_uc003dsy.2_Missense_Mutation_p.L100V|ST3GAL6_uc003dta.2_Missense_Mutation_p.L68V|ST3GAL6_uc003dtb.2_Missense_Mutation_p.L42V|ST3GAL6_uc003dtc.2_Missense_Mutation_p.L186V|ST3GAL6_uc010hpd.2_Missense_Mutation_p.L239V NM_006100 NP_006091 Q9Y274 SIA10_HUMAN alpha2,3-sialyltransferase VI 186 Lumenal (Potential). amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation integral to Golgi membrane sialyltransferase activity ovary(1) 1 GACAGTGATTCTCACTGCTTT 0.383 NA 50 124 0 0 0 0 IMPG2 50939 broad.mit.edu 37 3 100962535 100962535 + Silent SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr3:100962535C>A uc003duq.1 - 13 2843 c.2640G>T c.(2638-2640)GTG>GTT p.V880V IMPG2_uc011bhe.1_Silent_p.V743V NM_016247 NP_057331 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 880 Extracellular (Potential). visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 TGGGCCAAGCCACACTAACCA 0.458 NA 69 41 5.45e-27 7.55e-27 1 0 MYH15 22989 broad.mit.edu 37 3 108189618 108189618 + Missense_Mutation SNP C C T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr3:108189618C>T uc003dxa.1 - 14 1427 c.1370G>A c.(1369-1371)AGG>AAG p.R457K NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 457 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 ATCCAGGGCCCTGTTGATCCG 0.458 NA 27 53 0 0 0 0 MORC1 27136 broad.mit.edu 37 3 108813861 108813861 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr3:108813861C>A uc003dxl.2 - 7 565 c.478G>T c.(478-480)GAT>TAT p.D160Y MORC1_uc011bhn.1_Missense_Mutation_p.D160Y NM_014429 NP_055244 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 160 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding ovary(3)|skin(3)|breast(2) 8 TTCTGGGGATCATCTGTGACA 0.313 NA 24 89 7.93e-12 9.59e-12 1 0 GTF2E1 2960 broad.mit.edu 37 3 120489717 120489717 + Silent SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr3:120489717G>T uc003edz.3 + 3 705 c.591G>T c.(589-591)GTG>GTT p.V197V NM_005513 NP_005504 P29083 T2EA_HUMAN general transcription factor IIE, polypeptide 1, 197 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction nucleoplasm protein binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(114;0.159) CAGAGGATGTGAACTTGGCCT 0.443 NA 157 467 3.12e-78 4.69e-78 1 0 HEG1 57493 broad.mit.edu 37 3 124738111 124738111 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr3:124738111C>A uc003ehs.3 - 5 1651 c.1583G>T c.(1582-1584)CGT>CTT p.R528L HEG1_uc011bke.1_Missense_Mutation_p.R528L NM_020733 NP_065784 Q9ULI3 HEG1_HUMAN HEG homolog 1 precursor 528 Extracellular (Potential).|Ser-rich. extracellular region|integral to membrane calcium ion binding ovary(2) 2 CTCACTCGAACGTTCTCCACG 0.453 NA 3 91 0.00909568 0.00950257 1 0 KIAA1257 57501 broad.mit.edu 37 3 128712028 128712028 + Silent SNP C C T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr3:128712028C>T uc003elj.3 - 2 316 c.120G>A c.(118-120)AAG>AAA p.K40K KIAA1257_uc003elg.1_Silent_p.K40K|KIAA1257_uc003eli.3_5'Flank NM_020741 NP_065792 Q9ULG3 K1257_HUMAN hypothetical protein LOC57501 40 0 GGGCCCTGGCCTTGGCCTTCA 0.612 NA 5 166 0 0 0 0 NPHP3 27031 broad.mit.edu 37 3 132408077 132408077 + Nonsense_Mutation SNP C C T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr3:132408077C>T uc003epe.1 - 20 2801 c.2724G>A c.(2722-2724)TGG>TGA p.W908* NPHP3_uc003epd.1_Nonsense_Mutation_p.W150* NM_153240 NP_694972 Q7Z494 NPHP3_HUMAN nephrocystin 3 908 TPR 2. maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding ovary(1) 1 CAACAAACTGCCAATAACTCA 0.383 NA 76 166 0 0 0 0 PRR23C 389152 broad.mit.edu 37 3 138763109 138763109 + Nonsense_Mutation SNP C C T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr3:138763109C>T uc011bmt.1 - 1 626 c.354G>A c.(352-354)TGG>TGA p.W118* NM_001134657 NP_001128129 Q6ZRP0 PR23C_HUMAN proline rich 23C 118 skin(1) 1 GGCCGGCAGACCAGTCGCCCT 0.637 NA 6 24 0 0 0 0 HLTF 6596 broad.mit.edu 37 3 148778569 148778569 + Missense_Mutation SNP T T G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr3:148778569T>G uc003ewq.1 - 11 1455 c.1237A>C c.(1237-1239)AAA>CAA p.K413Q HLTF_uc003ewr.1_Missense_Mutation_p.K413Q|HLTF_uc003ews.1_Missense_Mutation_p.K413Q|HLTF_uc010hve.1_Missense_Mutation_p.K413Q NM_139048 NP_620636 Q14527 HLTF_HUMAN helicase-like transcription factor 413 chromatin modification|transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) ATGTTACCTTTCATTTTCTGC 0.299 NA 38 69 0 0 0 0 HLTF 6596 broad.mit.edu 37 3 148792018 148792018 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr3:148792018C>A uc003ewq.1 - 4 731 c.513G>T c.(511-513)TTG>TTT p.L171F HLTF_uc003ewr.1_Missense_Mutation_p.L171F|HLTF_uc003ews.1_Missense_Mutation_p.L171F|HLTF_uc010hve.1_Missense_Mutation_p.L171F NM_139048 NP_620636 Q14527 HLTF_HUMAN helicase-like transcription factor 171 chromatin modification|transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) GTGCAGGACCCAATTTAAATC 0.338 NA 21 100 4.35e-09 5.08e-09 1 0 GPR149 344758 broad.mit.edu 37 3 154138918 154138918 + Silent SNP T T C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr3:154138918T>C uc003faa.2 - 3 1633 c.1533A>G c.(1531-1533)CCA>CCG p.P511P NM_001038705 NP_001033794 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 511 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(6) 6 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) GTCTTCTTTCTGGCCCTTCAG 0.408 NA 79 163 0 0 0 0 IQCJ 654502 broad.mit.edu 37 3 158983064 158983064 + Missense_Mutation SNP G G A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr3:158983064G>A uc003fcp.1 + 5 457 c.352G>A c.(352-354)GGG>AGG p.G118R SCHIP1_uc003fcq.1_Intron|SCHIP1_uc003fcr.1_Intron|IQCJ_uc010hvy.1_Missense_Mutation_p.G91R NM_001042705 NP_001036170 Q1A5X6 IQCJ_HUMAN IQ motif containing J isoform CaMBPv1 118 0 LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534) GCAGTCACCTGGGGACAAGTT 0.493 NA 215 150 0 0 0 0 SI 6476 broad.mit.edu 37 3 164737396 164737396 + Silent SNP G G T rs150297357 byFrequency TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr3:164737396G>T uc003fei.2 - 28 3479 c.3417C>A c.(3415-3417)CCC>CCA p.P1139P NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1139 Sucrase.|Lumenal. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CTACACCAGGGGGTTGGTCTC 0.443 NA HNSCC(35;0.089) 82 76 1.02e-41 1.49e-41 1 0 SI 6476 broad.mit.edu 37 3 164739083 164739083 + Missense_Mutation SNP T T C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr3:164739083T>C uc003fei.2 - 27 3250 c.3188A>G c.(3187-3189)TAT>TGT p.Y1063C NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1063 Sucrase.|Lumenal. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TTCCACATCATAAAGTCTGTC 0.353 NA HNSCC(35;0.089) 142 330 0 0 0 0 EIF5A2 56648 broad.mit.edu 37 3 170624851 170624851 + Missense_Mutation SNP C C T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr3:170624851C>T uc003fhd.2 - 3 327 c.197G>A c.(196-198)GGC>GAC p.G66D NM_020390 NP_065123 Q9GZV4 IF5A2_HUMAN eIF-5A2 protein 66 mRNA transport|peptidyl-lysine modification to hypusine|polyamine homeostasis|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein transport|spermatogenesis|translational frameshifting|transmembrane transport cytosol|endoplasmic reticulum membrane|nuclear pore protein binding|ribosome binding|translation elongation factor activity 0 all_cancers(22;1.61e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;9.8e-16)|Lung(28;4.28e-15) ATATTTTTTGCCCGTGAAAAT 0.343 NA 4 132 0 0 0 0 MFN1 55669 broad.mit.edu 37 3 179095131 179095131 + Splice_Site SNP G G A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr3:179095131G>A uc003fjs.2 + 12 1351 c.1225_splice c.e12-1 p.V409_splice MFN1_uc010hxb.2_Splice_Site|MFN1_uc003fjt.2_Splice_Site_p.V437_splice|MFN1_uc010hxc.2_Splice_Site_p.V262_splice NM_033540 NP_284941 Q8IWA4 MFN1_HUMAN mitofusin 1 mitochondrial fusion integral to membrane|mitochondrial outer membrane GTP binding|GTPase activity ovary(2)|large_intestine(1) 3 all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923) CATATTTTCAGGTTTCATGTG 0.239 NA 44 101 0 0 0 0 CHRD 8646 broad.mit.edu 37 3 184099067 184099067 + Missense_Mutation SNP C C G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr3:184099067C>G uc003fov.2 + 3 543 c.297C>G c.(295-297)TGC>TGG p.C99W CHRD_uc003fow.2_5'UTR|CHRD_uc003fox.2_Missense_Mutation_p.C99W|CHRD_uc003foy.2_5'UTR|CHRD_uc010hyc.2_5'UTR|CHRD_uc011brr.1_5'Flank NM_003741 NP_003732 Q9H2X0 CHRD_HUMAN chordin precursor 99 VWFC 1. BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding skin(2)|ovary(1) 3 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGGTCAGCTGCAAGAACATCA 0.647 NA 21 43 0 0 0 0 DNAJB11 51726 broad.mit.edu 37 3 186299209 186299209 + Missense_Mutation SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr3:186299209G>T uc003fqi.2 + 5 726 c.506G>T c.(505-507)TGC>TTC p.C169F NM_016306 NP_057390 Q9UBS4 DJB11_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 11 169 C->S: Drastic loss of interaction with denatured substrates. protein folding endoplasmic reticulum lumen heat shock protein binding ovary(1)|lung(1) 2 all_cancers(143;2.84e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.44e-20) GBM - Glioblastoma multiforme(93;0.0476) AAACGGAAGTGCAATTGTCGG 0.517 NA 55 145 5.82e-19 7.62e-19 1 0 GUF1 60558 broad.mit.edu 37 4 44688653 44688653 + Silent SNP A A G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr4:44688653A>G uc003gww.3 + 8 1068 c.861A>G c.(859-861)GTA>GTG p.V287V GUF1_uc010ifz.1_RNA NM_021927 NP_068746 Q8N442 GUF1_HUMAN GUF1 GTPase homolog 287 translation mitochondrial inner membrane GTP binding|GTPase activity upper_aerodigestive_tract(1) 1 ATAAAATTGTATCTGCACATA 0.368 NA 89 38 0 0 0 0 KIAA1211 57482 broad.mit.edu 37 4 57173804 57173804 + Missense_Mutation SNP T T A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr4:57173804T>A uc003hbk.2 + 5 615 c.224T>A c.(223-225)CTG>CAG p.L75Q KIAA1211_uc010iha.2_Missense_Mutation_p.L68Q|KIAA1211_uc011bzz.1_5'Flank|KIAA1211_uc003hbl.2_5'Flank|KIAA1211_uc003hbm.1_5'Flank NM_020722 NP_065773 Q6ZU35 K1211_HUMAN hypothetical protein LOC57482 75 ovary(1)|skin(1) 2 Glioma(25;0.08)|all_neural(26;0.101) GATCTGTTCCTGACCAGTCCC 0.493 NA 36 38 0 0 0 0 TECRL 253017 broad.mit.edu 37 4 65175550 65175550 + Missense_Mutation SNP C C G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr4:65175550C>G uc003hcv.2 - 6 760 c.651G>C c.(649-651)TTG>TTC p.L217F TECRL_uc003hcw.2_Missense_Mutation_p.L217F NM_001010874 NP_001010874 Q5HYJ1 TECRL_HUMAN steroid 5 alpha-reductase 2-like 2 217 Helical; (Potential). lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors 0 TCACCATTATCAAATTTTTCA 0.338 NA 85 139 0 0 0 0 UGT2B10 7365 broad.mit.edu 37 4 69682013 69682013 + Missense_Mutation SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr4:69682013G>T uc003hee.2 + 1 301 c.276G>T c.(274-276)TTG>TTT p.L92F UGT2B10_uc011cam.1_Missense_Mutation_p.L92F NM_001075 NP_001066 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2B10 isoform 1 92 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(3)|ovary(2) 5 TCATGCAATTGGTTAAGAGAT 0.313 NA 41 60 2.27e-22 3.05e-22 1 0 CSN1S1 1446 broad.mit.edu 37 4 70804897 70804897 + Missense_Mutation SNP A A G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr4:70804897A>G uc003hep.1 + 10 296 c.247A>G c.(247-249)ATG>GTG p.M83V CSN1S1_uc003heq.1_Missense_Mutation_p.M82V|CSN1S1_uc003her.1_Missense_Mutation_p.M83V NM_001890 NP_001881 P47710 CASA1_HUMAN casein alpha s1 isoform 1 83 extracellular region protein binding|transporter activity 0 CTTTTAGAAGATGGAATCCAG 0.328 NA 50 73 0 0 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73164099 73164099 + Missense_Mutation SNP C C G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr4:73164099C>G uc003hgk.1 - 18 2522 c.2485G>C c.(2485-2487)GAC>CAC p.D829H ADAMTS3_uc003hgl.2_Missense_Mutation_p.D170H NM_014243 NP_055058 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 829 Spacer. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GGTACAGAGTCTTCATGGATG 0.403 NA 84 121 0 0 0 0 ALB 213 broad.mit.edu 37 4 74285323 74285324 + Missense_Mutation DNP GG GG TT TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr4:74285323_74285324GG>TT uc003hgs.3 + 13 1825_1826 c.1752_1753GG>TT c.(1750-1755)AAGGCT>AATTCT p.584_585KA>NS ALB_uc003hgw.3_Missense_Mutation_p.392_393KA>NS|ALB_uc011cbe.1_Missense_Mutation_p.263_264KA>NS|ALB_uc003hgt.3_Missense_Mutation_p.584_585KA>NS|ALB_uc010iii.2_Missense_Mutation_p.469_470KA>NS|ALB_uc003hgu.3_Missense_Mutation_p.434_435KA>NS|ALB_uc003hgv.3_Missense_Mutation_p.263_264KA>NS|ALB_uc011cbf.1_Missense_Mutation_p.474_475KA>NS|ALB_uc010iij.2_RNA|ALB_uc003hgx.3_Missense_Mutation_p.263_264KA>NS NM_000477 NP_000468 P02768 ALBU_HUMAN albumin preproprotein 584_585 Albumin 3. bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding ovary(3)|skin(3) 6 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) AGTGCTGCAAGGCTGACGATAA 0.441 NA 63 133 0 0 0 0 NAA11 84779 broad.mit.edu 37 4 80246866 80246866 + Missense_Mutation SNP C C T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr4:80246866C>T uc003hlt.3 - 1 306 c.166G>A c.(166-168)GTT>ATT p.V56I NM_032693 NP_116082 Q9BSU3 NAA11_HUMAN alpha-N-acetyltransferase 1B 56 Interaction with NAA15 (By similarity).|N-acetyltransferase. cytoplasm|nucleus peptide alpha-N-acetyltransferase activity|protein binding ovary(1)|central_nervous_system(1) 2 TTGGCCAGAACATAGCCCACA 0.532 NA 65 134 0 0 0 0 ANTXR2 118429 broad.mit.edu 37 4 80898813 80898813 + Missense_Mutation SNP C C T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr4:80898813C>T uc003hlz.3 - 16 2153 c.1390G>A c.(1390-1392)GAC>AAC p.D464N ANTXR2_uc003hly.3_Missense_Mutation_p.D464N|ANTXR2_uc003hlx.1_RNA|ANTXR2_uc010ijn.2_Missense_Mutation_p.D361N NM_001145794 NP_001139266 P58335 ANTR2_HUMAN anthrax toxin receptor 2 isoform 2 464 Cytoplasmic (Potential). endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane metal ion binding|protein binding|receptor activity ovary(1) 1 GAAACCCGGTCATACTGCCGC 0.448 NA Juvenile_Hyaline_Fibromatosis 6 8 0 0 0 0 ENOPH1 58478 broad.mit.edu 37 4 83375980 83375980 + Silent SNP G G A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr4:83375980G>A uc003hmv.2 + 4 752 c.495G>A c.(493-495)GGG>GGA p.G165G ENOPH1_uc003hmw.2_Silent_p.G77G|ENOPH1_uc003hmx.2_Silent_p.G19G NM_021204 NP_067027 Q9UHY7 ENOPH_HUMAN enolase-phosphatase 1 165 L-methionine salvage from methylthioadenosine cytoplasm|nucleus 2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity 0 TGTTATTCGGGCATTCTACGG 0.418 NA 5 214 0 0 0 0 GPRIN3 285513 broad.mit.edu 37 4 90170272 90170272 + Missense_Mutation SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr4:90170272G>T uc003hsm.1 - 2 1509 c.990C>A c.(988-990)AGC>AGA p.S330R NM_198281 NP_938022 Q6ZVF9 GRIN3_HUMAN G protein-regulated inducer of neurite outgrowth 330 ovary(3) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;5.67e-05) AGACGGATCTGCTCTCGACAC 0.537 NA 53 100 1.44e-25 1.98e-25 1 0 DKK2 27123 broad.mit.edu 37 4 107845325 107845325 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr4:107845325C>A uc003hyi.2 - 4 1271 c.566G>T c.(565-567)TGC>TTC p.C189F DKK2_uc003hyj.1_3'UTR NM_014421 NP_055236 Q9UBU2 DKK2_HUMAN dickkopf homolog 2 precursor 189 DKK-type Cys-2. multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular space ovary(3)|lung(1)|skin(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) CCCTTCAATGCAGTCTGATGA 0.453 NA 51 76 4e-15 5.06e-15 1 0 DKK2 27123 broad.mit.edu 37 4 107845853 107845853 + Silent SNP G G A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr4:107845853G>A uc003hyi.2 - 3 1083 c.378C>T c.(376-378)ATC>ATT p.I126I DKK2_uc010ilw.1_RNA|DKK2_uc003hyj.1_Silent_p.I126I NM_014421 NP_055236 Q9UBU2 DKK2_HUMAN dickkopf homolog 2 precursor 126 DKK-type Cys-1. multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular space ovary(3)|lung(1)|skin(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) CTGGGATACAGATGCCTGGAG 0.403 NA 81 102 0 0 0 0 CASP6 839 broad.mit.edu 37 4 110610524 110610524 + Missense_Mutation SNP G G C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr4:110610524G>C uc003hzn.1 - 7 922 c.844C>G c.(844-846)CTA>GTA p.L282V CASP6_uc003hzo.1_Missense_Mutation_p.L193V NM_001226 NP_001217 P55212 CASP6_HUMAN caspase 6 isoform alpha preproprotein 282 cellular component disassembly involved in apoptosis|induction of apoptosis|proteolysis cytosol|nucleoplasm cysteine-type endopeptidase activity|protein binding ovary(1)|breast(1) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000171) TTTTTAGTTAGCATTGAGGCA 0.368 NA 85 114 0 0 0 0 ENPEP 2028 broad.mit.edu 37 4 111431455 111431455 + Nonsense_Mutation SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr4:111431455G>T uc003iab.3 + 6 1591 c.1249G>T c.(1249-1251)GGA>TGA p.G417* NM_001977 NP_001968 Q07075 AMPE_HUMAN glutamyl aminopeptidase 417 Extracellular (Potential). cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding skin(3)|ovary(1)|breast(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) GCTAAATGAAGGATTTGCTTC 0.373 NA 54 80 1.14e-29 1.58e-29 1 0 ANK2 287 broad.mit.edu 37 4 114277866 114277866 + Missense_Mutation SNP A A T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr4:114277866A>T uc003ibe.3 + 38 8192 c.8092A>T c.(8092-8094)AGC>TGC p.S2698C ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Translation_Start_Site|ANK2_uc011cgb.1_Missense_Mutation_p.S2713C NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 2665 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) ACTTCCATCAAGCATGGACTC 0.443 NA 60 91 0 0 0 0 C4orf3 401152 broad.mit.edu 37 4 120221511 120221511 + Silent SNP G G C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr4:120221511G>C uc003icv.3 - 1 458 c.180C>G c.(178-180)CTC>CTG p.L60L NM_001001701 NP_001001701 Q8WVX3 CD003_HUMAN hypothetical protein LOC401152 60 Helical; (Potential). integral to membrane 0 AATACACAAAGAGAAACACCA 0.328 NA 75 64 0 0 0 0 PCDH10 57575 broad.mit.edu 37 4 134076163 134076163 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr4:134076163C>A uc003iha.2 + 3 3608 c.2782C>A c.(2782-2784)CGT>AGT p.R928S NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 928 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) TGCCACCAACCGTGCCCAGTC 0.423 NA 28 45 5.46e-16 6.98e-16 1 0 DCHS2 54798 broad.mit.edu 37 4 155241774 155241774 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr4:155241774C>A uc003inw.2 - 14 3412 c.3412G>T c.(3412-3414)GCT>TCT p.A1138S NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 1138 Cadherin 9. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) ACATTCACAGCCTGATCAGAT 0.458 NA 100 139 9.45e-43 1.38e-42 1 0 NPY5R 4889 broad.mit.edu 37 4 164272139 164272139 + Missense_Mutation SNP A A G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr4:164272139A>G uc003iqn.2 + 4 896 c.714A>G c.(712-714)ATA>ATG p.I238M NM_006174 NP_006165 Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 238 Cytoplasmic (Potential). cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane lung(6)|skin(1) 7 all_hematologic(180;0.166) Prostate(90;0.109) GCAGAAGTATAAGCTGTGGAT 0.368 NA 58 90 0 0 0 0 GALNTL6 442117 broad.mit.edu 37 4 172735864 172735864 + Missense_Mutation SNP C C G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr4:172735864C>G uc003isv.2 + 2 869 c.133C>G c.(133-135)CAG>GAG p.Q45E NM_001034845 NP_001030017 Q49A17 GLTL6_HUMAN N-acetylgalactosaminyltransferase-like 6 45 Lumenal (Potential). Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|ovary(1)|skin(1) 4 GCCCGGGGAGCAGCAGGTAAG 0.547 NA 17 48 0 0 0 0 GALNTL6 442117 broad.mit.edu 37 4 173150916 173150916 + Splice_Site SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr4:173150916G>T uc003isv.2 + 3 983 c.247_splice c.e3+1 p.G83_splice NM_001034845 NP_001030017 Q49A17 GLTL6_HUMAN N-acetylgalactosaminyltransferase-like 6 Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|ovary(1)|skin(1) 4 ATGCGCTCAGGTATGAAGCTC 0.448 NA 16 17 4.75e-09 5.53e-09 1 0 DNAH5 1767 broad.mit.edu 37 5 13735961 13735961 + Nonsense_Mutation SNP G G A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr5:13735961G>A uc003jfd.2 - 67 11578 c.11536C>T c.(11536-11538)CAG>TAG p.Q3846* DNAH5_uc003jfc.2_Nonsense_Mutation_p.Q14* NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3846 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) CCCAGAAACTGGCGAAGCGAA 0.468 NA Kartagener_syndrome 65 173 0 0 0 0 CDH10 1008 broad.mit.edu 37 5 24537586 24537586 + Silent SNP C C T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr5:24537586C>T uc003jgr.1 - 3 761 c.429G>A c.(427-429)GAG>GAA p.E143E CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 143 Cadherin 1.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) CAAACTCTGACTCTGGCTCTA 0.418 NA HNSCC(23;0.051) 94 123 0 0 0 0 CDH9 1007 broad.mit.edu 37 5 26885967 26885967 + Silent SNP T T C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr5:26885967T>C uc003jgs.1 - 11 1807 c.1638A>G c.(1636-1638)ACA>ACG p.T546T CDH9_uc011cnv.1_Silent_p.T139T NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 546 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 TGATTCCTGCTGTATTATCTG 0.308 NA 37 78 0 0 0 0 FYB 2533 broad.mit.edu 37 5 39153579 39153579 + Silent SNP G G C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr5:39153579G>C uc003jls.2 - 2 1330 c.1263C>G c.(1261-1263)CCC>CCG p.P421P FYB_uc003jlt.2_Silent_p.P421P|FYB_uc003jlu.2_Silent_p.P421P|FYB_uc011cpl.1_Silent_p.P431P NM_199335 NP_955367 O15117 FYB_HUMAN FYN binding protein (FYB-120/130) isoform 2 421 Interaction with SKAP1. cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding ovary(2) 2 all_lung(31;0.000343) Epithelial(62;0.235) TAATGTTTCTGGGAGGTAGGC 0.488 NA 115 184 0 0 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41048516 41048516 + Missense_Mutation SNP C C G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr5:41048516C>G uc003jmj.3 - 16 2084 c.1594G>C c.(1594-1596)GGG>CGG p.G532R HEATR7B2_uc003jmi.3_Missense_Mutation_p.G87R NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 532 HEAT 6. binding ovary(6)|central_nervous_system(2) 8 TTCAAAAGCCCTATTGCACCA 0.458 NA 45 63 0 0 0 0 C6 729 broad.mit.edu 37 5 41201815 41201815 + Missense_Mutation SNP G G C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr5:41201815G>C uc003jmk.2 - 3 355 c.145C>G c.(145-147)CAA>GAA p.Q49E C6_uc003jml.1_Missense_Mutation_p.Q49E NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 49 TSP type-1 1. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding ovary(3)|central_nervous_system(2)|skin(2) 7 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) ACTACTATTTGTCTGTAACCA 0.363 NA 51 79 0 0 0 0 HCN1 348980 broad.mit.edu 37 5 45396681 45396681 + Silent SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr5:45396681G>T uc003jok.2 - 4 1168 c.1143C>A c.(1141-1143)GTC>GTA p.V381V NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 381 Helical; Name=Segment S6; (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 AGGTGGCCCCGACGATCATGC 0.507 NA 43 63 1.32e-16 1.7e-16 1 0 RAB3C 115827 broad.mit.edu 37 5 58147124 58147124 + Silent SNP G G A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr5:58147124G>A uc003jrp.2 + 5 727 c.630G>A c.(628-630)CAG>CAA p.Q210Q NM_138453 NP_612462 Q96E17 RAB3C_HUMAN RAB3C, member RAS oncogene family 210 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding ovary(1)|central_nervous_system(1) 2 all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664) OV - Ovarian serous cystadenocarcinoma(10;1.8e-34) CTGCAAAGCAGAACACGAGAC 0.532 NA 90 24 0 0 0 0 PCDHA6 56142 broad.mit.edu 37 5 140209242 140209242 + Silent SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr5:140209242G>T uc003lho.2 + 1 1593 c.1566G>T c.(1564-1566)CCG>CCT p.P522P 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_Silent_p.P522P|PCDHA6_uc011dab.1_Silent_p.P522P NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 522 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCTGCAGCCGCTGGACCACG 0.682 NA 139 26 9.63e-85 1.45e-84 1 0 PCDHA13 56136 broad.mit.edu 37 5 140262387 140262387 + Missense_Mutation SNP C C G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr5:140262387C>G uc003lif.2 + 1 534 c.534C>G c.(532-534)TTC>TTG p.F178L 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_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.F178L|PCDHA13_uc003lid.2_Missense_Mutation_p.F178L NM_018904 NP_061727 Q9Y5I0 PCDAD_HUMAN protocadherin alpha 13 isoform 1 precursor 178 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGATTATTTCACTTTGGACG 0.433 NA 118 21 0 0 0 0 PCDHB6 56130 broad.mit.edu 37 5 140531709 140531709 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr5:140531709C>A uc003lir.2 + 1 1871 c.1871C>A c.(1870-1872)ACC>AAC p.T624N PCDHB6_uc011dah.1_Missense_Mutation_p.T488N NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN protocadherin beta 6 precursor 624 Cadherin 6.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAGGTGCGCACCGCCAGGCTG 0.687 NA 55 8 5.99e-33 8.45e-33 1 0 GABRG2 2566 broad.mit.edu 37 5 161524815 161524815 + Missense_Mutation SNP A A T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr5:161524815A>T uc003lyz.3 + 4 857 c.499A>T c.(499-501)AAC>TAC p.N167Y GABRG2_uc010jjc.2_Missense_Mutation_p.N167Y|GABRG2_uc003lyy.3_Missense_Mutation_p.N167Y|GABRG2_uc011dej.1_Missense_Mutation_p.N72Y NM_000816 NP_000807 P18507 GBRG2_HUMAN gamma-aminobutyric acid A receptor, gamma 2 167 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(4)|skin(1) 5 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) CACCACCCCCAACAGGATGCT 0.423 NA 136 17 0 0 0 0 ATXN1 6310 broad.mit.edu 37 6 16327496 16327496 + Missense_Mutation SNP C C T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr6:16327496C>T uc003nbt.2 - 8 2017 c.1046G>A c.(1045-1047)GGC>GAC p.G349D ATXN1_uc010jpi.2_Missense_Mutation_p.G349D|ATXN1_uc010jpj.1_Intron NM_000332 NP_000323 P54253 ATX1_HUMAN ataxin 1 349 cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association skin(3)|central_nervous_system(1) 4 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) AACCGACTTGCCGCCTGCCTT 0.677 NA 4 146 0 0 0 0 OR14J1 442191 broad.mit.edu 37 6 29274690 29274690 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr6:29274690C>A uc011dln.1 + 1 224 c.224C>A c.(223-225)ACA>AAA p.T75K NM_030946 NP_112208 Q9UGF5 O14J1_HUMAN olfactory receptor, family 5, subfamily U member 75 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 ATCTCTGTCACAGTCCCCCAG 0.453 NA 277 73 5.25e-114 7.98e-114 1 0 TREML2 79865 broad.mit.edu 37 6 41162312 41162312 + Silent SNP G G A rs141822677 byFrequency TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr6:41162312G>A uc010jxm.1 - 3 815 c.636C>T c.(634-636)ACC>ACT p.T212T NM_024807 NP_079083 Q5T2D2 TRML2_HUMAN triggering receptor expressed on myeloid 212 Extracellular (Potential). T cell activation cell surface|integral to membrane|plasma membrane protein binding|receptor activity ovary(1)|central_nervous_system(1) 2 Ovarian(28;0.0418)|Colorectal(47;0.196) TGGGAGACGCGGTCACTGTCT 0.627 NA 24 33 0 0 0 0 RCAN2 10231 broad.mit.edu 37 6 46191030 46191030 + Missense_Mutation SNP A A G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr6:46191030A>G uc003oyb.1 - 4 757 c.442T>C c.(442-444)TAT>CAT p.Y148H RCAN2_uc003oyc.1_Missense_Mutation_p.Y194H|RCAN2_uc003oyd.1_Missense_Mutation_p.Y194H NM_005822 NP_005813 Q14206 RCAN2_HUMAN Down syndrome critical region gene 1-like 1 148 calcium-mediated signaling|central nervous system development nucleotide binding|protein phosphatase 2B binding 0 TGGAGCTCATACTTCTCTCCT 0.502 NA 84 113 0 0 0 0 GPR116 221395 broad.mit.edu 37 6 46856179 46856179 + Missense_Mutation SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr6:46856179G>T uc003oyo.3 - 4 510 c.221C>A c.(220-222)GCA>GAA p.A74E GPR116_uc003oyp.3_Missense_Mutation_p.A74E|GPR116_uc003oyq.3_Missense_Mutation_p.A74E|GPR116_uc003oyr.2_Missense_Mutation_p.A74E NM_001098518 NP_001091988 Q8IZF2 GP116_HUMAN G-protein coupled receptor 116 precursor 74 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|skin(1) 2 Lung(136;0.192) CAGGAAGGATGCATTTTCAAA 0.398 NA 53 86 1.08e-33 1.54e-33 1 0 TFAP2D 83741 broad.mit.edu 37 6 50740375 50740375 + Missense_Mutation SNP T T A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr6:50740375T>A uc003paf.2 + 8 1669 c.1157T>A c.(1156-1158)TTT>TAT p.F386Y TFAP2D_uc011dwt.1_RNA NM_172238 NP_758438 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 beta-like 1 386 H-S-H (helix-span-helix), dimerization. DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|breast(1) 7 Lung NSC(77;0.0334) ACTCATGGCTTTGGGACTCCG 0.403 NA 43 53 0 0 0 0 PKHD1 5314 broad.mit.edu 37 6 51897833 51897833 + Missense_Mutation SNP A A G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr6:51897833A>G uc003pah.1 - 29 3635 c.3359T>C c.(3358-3360)ATA>ACA p.I1120T PKHD1_uc003pai.2_Missense_Mutation_p.I1120T NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 1120 Extracellular (Potential).|IPT/TIG 6; atypical. 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) TTTACCTGCTATATTGCTTAT 0.363 NA 52 76 0 0 0 0 PKHD1 5314 broad.mit.edu 37 6 51947243 51947243 + Silent SNP G G A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr6:51947243G>A uc003pah.1 - 4 504 c.228C>T c.(226-228)CCC>CCT p.P76P PKHD1_uc003pai.2_Silent_p.P76P NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 76 Extracellular (Potential).|IPT/TIG 1; atypical. 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) AGACGTCACAGGGAACACTCC 0.502 NA 94 139 0 0 0 0 ZNF451 26036 broad.mit.edu 37 6 57017082 57017082 + Missense_Mutation SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr6:57017082G>T uc003pdm.1 + 12 3040 c.2816G>T c.(2815-2817)GGA>GTA p.G939V ZNF451_uc003pdl.2_Missense_Mutation_p.G939V|ZNF451_uc003pdn.1_Missense_Mutation_p.G891V|uc003pdq.1_Intron NM_001031623 NP_001026794 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 isoform 1 939 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1)|pancreas(1) 2 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) AACAGGATTGGATGCTTCTTC 0.353 NA 58 99 2.76e-25 3.78e-25 1 0 PRIM2 5558 broad.mit.edu 37 6 57472415 57472415 + Nonsense_Mutation SNP A A T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr6:57472415A>T uc003pdx.2 + 13 1291 c.1204A>T c.(1204-1206)AAG>TAG p.K402* NM_000947 NP_000938 P49643 PRI2_HUMAN DNA primase polypeptide 2 402 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding 0 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) GCAGTCATACAAGATCTCTCC 0.433 NA 8 75 0 0 0 0 FHL5 9457 broad.mit.edu 37 6 97052714 97052714 + Missense_Mutation SNP C C G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr6:97052714C>G uc003pos.1 + 4 653 c.248C>G c.(247-249)GCC>GGC p.A83G FHL5_uc003pot.1_Missense_Mutation_p.A83G NM_020482 NP_065228 Q5TD97 FHL5_HUMAN activator of cAMP-responsive element modulator 83 LIM zinc-binding 1. nucleus zinc ion binding ovary(2) 2 all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204) BRCA - Breast invasive adenocarcinoma(108;0.0948) CCTTTTGCTGCCAAGGATGAG 0.507 NA 63 40 0 0 0 0 FRK 2444 broad.mit.edu 37 6 116381174 116381174 + Missense_Mutation SNP G G A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr6:116381174G>A uc003pwi.1 - 1 748 c.301C>T c.(301-303)CCT>TCT p.P101S NM_002031 NP_002022 P42685 FRK_HUMAN fyn-related kinase 101 SH3. negative regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding ovary(3)|lung(3) 6 all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465) all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625) TAGTTAGAAGGAATATAGCCT 0.468 NA 124 54 0 0 0 0 ENPP3 5169 broad.mit.edu 37 6 132004203 132004203 + Missense_Mutation SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr6:132004203G>T uc003qcu.3 + 13 1368 c.1021G>T c.(1021-1023)GCC>TCC p.A341S ENPP3_uc010kfo.1_RNA|ENPP3_uc010kfp.1_RNA|ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Missense_Mutation_p.A341S NM_005021 NP_005012 O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 341 Extracellular (Potential).|Phosphodiesterase. immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity ovary(3)|skin(1) 4 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) GGTAATTAAAGCCTTACAGGT 0.378 NA 69 32 2.05e-36 2.95e-36 1 0 MAP3K5 4217 broad.mit.edu 37 6 137015389 137015389 + Missense_Mutation SNP C C T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr6:137015389C>T uc003qhc.2 - 7 1503 c.1142G>A c.(1141-1143)AGC>AAC p.S381N MAP3K5_uc011edk.1_Missense_Mutation_p.S226N|MAP3K5_uc010kgw.1_Missense_Mutation_p.S381N NM_005923 NP_005914 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 381 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding ovary(2)|skin(2)|lung(1) 5 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) TTGTCCTTCGCTTTGCACCAT 0.388 NA 56 253 0 0 0 0 KIAA1244 57221 broad.mit.edu 37 6 138550985 138550985 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr6:138550985C>A uc003qhu.2 + 5 416 c.416C>A c.(415-417)GCG>GAG p.A139E NM_020340 NP_065073 Q5TH69 BIG3_HUMAN brefeldin A-inhibited guanine 139 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity ovary(1)|skin(1) 2 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) CTGAAGATCGCGGAGGTGAGT 0.483 NA 237 40 2.7e-108 4.1e-108 1 0 LATS1 9113 broad.mit.edu 37 6 149997417 149997417 + Silent SNP T T A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr6:149997417T>A uc003qmu.1 - 7 3410 c.2862A>T c.(2860-2862)ACA>ACT p.T954T LATS1_uc010kif.1_Silent_p.T849T|LATS1_uc003qmv.1_Silent_p.T954T NM_004690 NP_004681 O95835 LATS1_HUMAN LATS homolog 1 954 Protein kinase. cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity lung(5)|central_nervous_system(1) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) TTTCTAATGGTGTTTGTGCCA 0.353 NA 36 51 0 0 0 0 SYNE1 23345 broad.mit.edu 37 6 152464762 152464762 + Missense_Mutation SNP C C T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr6:152464762C>T uc010kiw.2 - 138 25717 c.25115G>A c.(25114-25116)GGC>GAC p.G8372D SYNE1_uc010kiv.2_Missense_Mutation_p.G2896D|SYNE1_uc003qos.3_Missense_Mutation_p.G2896D|SYNE1_uc003qot.3_Missense_Mutation_p.G8324D|SYNE1_uc003qou.3_Missense_Mutation_p.G8372D|SYNE1_uc003qop.3_Missense_Mutation_p.G557D|SYNE1_uc011eez.1_Missense_Mutation_p.G574D|SYNE1_uc003qoq.3_Missense_Mutation_p.G574D|SYNE1_uc003qor.3_Missense_Mutation_p.G1295D NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 8372 Potential.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) ACTTACGTAGCCTTTGTAGCT 0.507 NA HNSCC(10;0.0054) 93 159 0 0 0 0 MYCT1 80177 broad.mit.edu 37 6 153043007 153043007 + Missense_Mutation SNP C C G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr6:153043007C>G uc003qpd.3 + 2 335 c.327C>G c.(325-327)AGC>AGG p.S109R MYCT1_uc010kjc.1_Intron|MYCT1_uc003qpc.3_Missense_Mutation_p.S109R NM_025107 NP_079383 Q8N699 MYCT1_HUMAN myc target 1 109 Bipartite nuclear localization signal (Potential). nucleus ovary(1) 1 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143) GGAGTTCAAGCAGGAGATCTA 0.517 NA 84 103 0 0 0 0 FRMD1 79981 broad.mit.edu 37 6 168464322 168464322 + Silent SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr6:168464322G>T uc003qwo.3 - 6 828 c.763C>A c.(763-765)CGG>AGG p.R255R FRMD1_uc003qwm.3_Silent_p.R26R|FRMD1_uc011egs.1_Silent_p.R26R|FRMD1_uc011egt.1_Silent_p.R167R|FRMD1_uc003qwn.3_Silent_p.R187R NM_024919 NP_079195 Q8N878 FRMD1_HUMAN FERM domain containing 1 isoform 1 255 FERM. cytoskeleton binding ovary(1) 1 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) TCCTCCAGCCGGCAGGCCTCC 0.667 NA 27 56 2.49e-11 2.99e-11 1 0 INTS1 26173 broad.mit.edu 37 7 1539130 1539130 + Missense_Mutation SNP C C T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr7:1539130C>T uc003skn.2 - 6 924 c.823G>A c.(823-825)GTT>ATT p.V275I INTS1_uc003skq.2_Missense_Mutation_p.V275I NM_001080453 NP_001073922 Q8N201 INT1_HUMAN integrator complex subunit 1 275 snRNA processing integral to membrane|integrator complex|nuclear membrane 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) TCGCCCGCAACGCGGCCCGCC 0.682 NA 6 23 0 0 0 0 MACC1 346389 broad.mit.edu 37 7 20198179 20198179 + Missense_Mutation SNP A A G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr7:20198179A>G uc003sus.3 - 5 2114 c.1805T>C c.(1804-1806)CTC>CCC p.L602P MACC1_uc010kug.2_Missense_Mutation_p.L602P NM_182762 NP_877439 Q6ZN28 MACC1_HUMAN putative binding protein 7a5 602 SH3. positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity ovary(2)|skin(1) 3 CTTACCTCTGAGGACTCCTAC 0.393 NA 453 52 0 0 0 0 KLHL7 55975 broad.mit.edu 37 7 23163426 23163426 + Missense_Mutation SNP C C G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr7:23163426C>G uc003svs.3 + 2 444 c.151C>G c.(151-153)CAG>GAG p.Q51E KLHL7_uc003svr.3_Missense_Mutation_p.Q29E|KLHL7_uc011jys.1_Intron|KLHL7_uc011jyt.1_Intron|KLHL7_uc003svt.2_Missense_Mutation_p.Q3E|KLHL7_uc003svp.2_Missense_Mutation_p.Q29E|KLHL7_uc003svq.2_Missense_Mutation_p.Q51E|KLHL7_uc011jyu.1_Missense_Mutation_p.Q29E NM_001031710 NP_001026880 Q8IXQ5 KLHL7_HUMAN kelch-like 7 isoform 1 51 BTB. Golgi apparatus|nucleolus|plasma membrane 0 CCTCATGGTCCAGGAAAGAAA 0.363 NA 105 12 0 0 0 0 ELMO1 9844 broad.mit.edu 37 7 37355565 37355565 + Splice_Site SNP C C T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr7:37355565C>T uc003tfk.1 - 3 386 c.79_splice c.e3-1 p.K27_splice ELMO1_uc010kxg.1_Splice_Site_p.K27_splice NM_014800 NP_055615 Q92556 ELMO1_HUMAN engulfment and cell motility 1 isoform 1 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding ovary(3)|skin(2)|upper_aerodigestive_tract(1) 6 GTGGTTTTTTCTGCAAAATAA 0.284 NA 353 54 0 0 0 0 EPDR1 54749 broad.mit.edu 37 7 37960496 37960496 + Silent SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr7:37960496C>A uc003tfp.2 + 1 334 c.315C>A c.(313-315)GCC>GCA p.A105A EPDR1_uc003tfq.2_Silent_p.A105A|EPDR1_uc010kxh.2_5'Flank NM_017549 NP_060019 Q9UM22 EPDR1_HUMAN ependymin related protein 1 precursor Error:Variant_position_missing_in_Q9UM22_after_alignment cell-matrix adhesion extracellular region calcium ion binding upper_aerodigestive_tract(1) 1 GCCTCAGCGCCCCCTTGGGCT 0.721 NA 40 5 3.86e-21 5.15e-21 1 0 CCDC132 55610 broad.mit.edu 37 7 92902042 92902042 + Silent SNP A A G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr7:92902042A>G uc003umo.2 + 11 926 c.798A>G c.(796-798)ACA>ACG p.T266T CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Silent_p.T236T|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Intron|CCDC132_uc003umn.2_Silent_p.T266T NM_017667 NP_060137 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 isoform a 266 0 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) TTGGAAAAACACAGGTTTGTT 0.333 NA 24 53 0 0 0 0 PPP1R9A 55607 broad.mit.edu 37 7 94740679 94740679 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr7:94740679C>A uc003unp.2 + 3 1786 c.1504C>A c.(1504-1506)CTT>ATT p.L502I PPP1R9A_uc010lfj.2_Missense_Mutation_p.L502I|PPP1R9A_uc011kif.1_Missense_Mutation_p.L502I|PPP1R9A_uc003unq.2_Missense_Mutation_p.L502I|PPP1R9A_uc011kig.1_Missense_Mutation_p.L502I NM_017650 NP_060120 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory (inhibitor) 502 Interacts with protein phosphatase 1 (By similarity). cell junction|synapse|synaptosome actin binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) AAAGCTGGAACTTTTCCCAGT 0.388 NA HNSCC(28;0.073) 26 51 7.44e-23 1e-22 1 0 LAMB4 22798 broad.mit.edu 37 7 107669526 107669526 + Missense_Mutation SNP A A G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr7:107669526A>G uc010ljo.1 - 33 5192 c.5108T>C c.(5107-5109)TTG>TCG p.L1703S LAMB4_uc003vey.2_Missense_Mutation_p.L1703S|LAMB4_uc010ljp.1_Missense_Mutation_p.L672S NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN laminin, beta 4 precursor 1703 Potential.|Domain I. cell adhesion basement membrane ovary(4)|breast(2)|large_intestine(1)|skin(1) 8 ATCTCCAGCCAATTTTTCTGC 0.363 NA 48 21 0 0 0 0 FLNC 2318 broad.mit.edu 37 7 128478683 128478683 + Missense_Mutation SNP G G C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr7:128478683G>C uc003vnz.3 + 8 1446 c.1237G>C c.(1237-1239)GTG>CTG p.V413L FLNC_uc003voa.3_Missense_Mutation_p.V413L NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 413 Filamin 2. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 TGTTGCTGTGGTGATCGTGGA 0.657 NA 56 27 0 0 0 0 AHCYL2 23382 broad.mit.edu 37 7 129045020 129045020 + Missense_Mutation SNP A A T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr7:129045020A>T uc011kov.1 + 8 1162 c.1108A>T c.(1108-1110)AAC>TAC p.N370Y AHCYL2_uc003vot.2_Missense_Mutation_p.N369Y|AHCYL2_uc003vov.2_Missense_Mutation_p.N267Y|AHCYL2_uc011kow.1_Missense_Mutation_p.N268Y|AHCYL2_uc011kox.1_Missense_Mutation_p.N267Y NM_015328 NP_056143 Q96HN2 SAHH3_HUMAN S-adenosylhomocysteine hydrolase-like 2 isoform 370 NAD (By similarity). one-carbon metabolic process adenosylhomocysteinase activity ovary(2) 2 GAAATTTGACAACCTCTACTG 0.423 NA 109 47 0 0 0 0 OR2F2 135948 broad.mit.edu 37 7 143633045 143633045 + Silent SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr7:143633045G>T uc011ktv.1 + 1 720 c.720G>T c.(718-720)ACG>ACT p.T240T NM_001004685 NP_001004685 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, 240 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 Melanoma(164;0.0903) CCTTCCACACGTGTGCCTCTC 0.517 NA 46 26 1.76e-25 2.42e-25 1 0 CNTNAP2 26047 broad.mit.edu 37 7 146741062 146741062 + Missense_Mutation SNP G G A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr7:146741062G>A uc003weu.1 + 4 982 c.466G>A c.(466-468)GCC>ACC p.A156T NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 156 F5/8 type C.|Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TCCGATTATTGCCCGCTATGT 0.428 NA HNSCC(39;0.1) 62 37 0 0 0 0 CSMD1 64478 broad.mit.edu 37 8 2832134 2832134 + Missense_Mutation SNP C C T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr8:2832134C>T uc011kwk.1 - 56 8972 c.8582G>A c.(8581-8583)GGA>GAA p.G2861E CSMD1_uc011kwj.1_Missense_Mutation_p.G2190E|CSMD1_uc010lrg.2_Missense_Mutation_p.G871E NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2861 Sushi 21.|Extracellular (Potential). integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CCCTGGGTGTCCACACGATAT 0.498 NA 6 20 0 0 0 0 OPRK1 4986 broad.mit.edu 37 8 54163409 54163409 + Silent SNP C C G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr8:54163409C>G uc003xrh.1 - 1 564 c.189G>C c.(187-189)ACG>ACC p.T63T OPRK1_uc003xri.1_Silent_p.T63T|OPRK1_uc010lyc.1_5'UTR NM_000912 NP_000903 P41145 OPRK_HUMAN opioid receptor, kappa 1 63 Helical; Name=1; (Potential). behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding ovary(1)|skin(1) 2 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) AGTAGACCGCCGTGATGATGA 0.692 NA 27 10 0 0 0 0 JPH1 56704 broad.mit.edu 37 8 75227756 75227756 + Missense_Mutation SNP C C G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr8:75227756C>G uc003yae.2 - 2 519 c.479G>C c.(478-480)CGT>CCT p.R160P JPH1_uc003yaf.2_Missense_Mutation_p.R160P|JPH1_uc003yag.1_Missense_Mutation_p.R24P NM_020647 NP_065698 Q9HDC5 JPH1_HUMAN junctophilin 1 160 Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane ovary(1) 1 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) CAGCGAGGTACGCAGCGGTGA 0.731 NA 16 7 0 0 0 0 ZFHX4 79776 broad.mit.edu 37 8 77775753 77775753 + Missense_Mutation SNP C C G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr8:77775753C>G uc003yav.2 + 11 10055 c.9668C>G c.(9667-9669)CCT>CGT p.P3223R NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 3219 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) TACTTTATCCCTGGGTTTGCT 0.493 NA HNSCC(33;0.089) 66 31 0 0 0 0 VPS13B 157680 broad.mit.edu 37 8 100146859 100146859 + Splice_Site SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr8:100146859G>T uc003yiv.2 + 9 1318 c.1207_splice c.e9-1 p.L403_splice VPS13B_uc003yiw.2_Splice_Site_p.L403_splice|VPS13B_uc003yit.2_Splice_Site_p.L403_splice|VPS13B_uc003yiu.1_Splice_Site_p.L403_splice|VPS13B_uc003yix.1_5'Flank NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) ATATTTCTTAGCTCACAGAAA 0.279 NA 21 44 1.96e-10 2.33e-10 1 0 YWHAZ 7534 broad.mit.edu 37 8 101936241 101936241 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr8:101936241C>A uc011lhe.1 - 5 797 c.620G>T c.(619-621)AGT>ATT p.S207I YWHAZ_uc003yjv.2_Missense_Mutation_p.S207I|YWHAZ_uc011lhf.1_Missense_Mutation_p.S207I|YWHAZ_uc003yjw.2_Missense_Mutation_p.S207I|YWHAZ_uc010mbq.2_Missense_Mutation_p.S130I|YWHAZ_uc011lhg.1_Missense_Mutation_p.S87I|YWHAZ_uc010mbr.2_Missense_Mutation_p.S207I|YWHAZ_uc003yjx.2_Missense_Mutation_p.S207I|YWHAZ_uc003yjy.2_Missense_Mutation_p.S207I NM_001135702 NP_001129174 P63104 1433Z_HUMAN tyrosine 3/tryptophan 5 -monooxygenase 207 anti-apoptosis|mRNA metabolic process|platelet activation|signal transduction cytosol|melanosome transcription factor binding 0 all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197) Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05) Ginkgo biloba(DB01381) TGACTCTTCACTTAATGTATC 0.333 NA 92 114 8.93e-32 1.26e-31 1 0 PKHD1L1 93035 broad.mit.edu 37 8 110468491 110468491 + Missense_Mutation SNP G G C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr8:110468491G>C uc003yne.2 + 46 6979 c.6875G>C c.(6874-6876)GGT>GCT p.G2292A NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 2292 Extracellular (Potential).|G8 1. immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TTGGTTCTAGGTGTGCCTGTT 0.373 NA HNSCC(38;0.096) 12 43 0 0 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110509268 110509268 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr8:110509268C>A uc003yne.2 + 64 10552 c.10448C>A c.(10447-10449)ACA>AAA p.T3483K NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 3483 PbH1 8.|Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ACCATTTGGACATGCTGGGAT 0.338 NA HNSCC(38;0.096) 56 137 4.26e-23 5.75e-23 1 0 MYC 4609 broad.mit.edu 37 8 128753024 128753024 + Missense_Mutation SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr8:128753024G>T uc003ysi.2 + 3 1710 c.1185G>T c.(1183-1185)CAG>CAT p.Q395H NM_002467 NP_002458 P01106 MYC_HUMAN myc proto-oncogene protein 380 Helix-loop-helix motif. branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug nucleolus|nucleoplasm E-box binding|protein binding|sequence-specific DNA binding transcription factor activity p.Q380Q(1) lung(3)|ovary(1)|central_nervous_system(1)|pancreas(1) 6 all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185) Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22) Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151) KIRC - Kidney renal clear cell carcinoma(542;0.248) TGCGTGACCAGATCCCGGAGT 0.517 3 A|T IGK@|BCL5|BCL7A |BTG1|TRA@|IGH@ Burkitt lymphoma| amplified in other cancers|B-CLL 94 314 2.77e-59 4.12e-59 1 0 BAI1 575 broad.mit.edu 37 8 143558514 143558514 + Missense_Mutation SNP G G A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr8:143558514G>A uc003ywm.2 + 4 1280 c.1097G>A c.(1096-1098)TGC>TAC p.C366Y NM_001702 NP_001693 O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 366 Extracellular (Potential).|TSP type-1 2. axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1) 8 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) TGGAGCGTGTGCTCCAGCACC 0.716 NA 11 24 0 0 0 0 FBXL6 26233 broad.mit.edu 37 8 145579649 145579649 + Missense_Mutation SNP C C T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr8:145579649C>T uc003zcb.2 - 8 1476 c.1451G>A c.(1450-1452)CGG>CAG p.R484Q C8ORFK29_uc011llb.1_5'Flank|C8ORFK29_uc010mfw.2_5'Flank|C8ORFK29_uc003zby.3_5'Flank|FBXL6_uc003zbz.2_Missense_Mutation_p.R211Q|FBXL6_uc003zca.2_Missense_Mutation_p.R478Q|FBXL6_uc010mfx.2_Missense_Mutation_p.R245Q|GPR172A_uc003zcc.1_5'Flank|GPR172A_uc003zcd.1_5'Flank|GPR172A_uc003zce.1_5'Flank|GPR172A_uc010mfy.1_5'Flank|GPR172A_uc003zcf.1_5'Flank|GPR172A_uc011llc.1_5'Flank NM_012162 NP_036294 Q8N531 FBXL6_HUMAN F-box and leucine-rich repeat protein 6 isoform 484 LRR 11. proteolysis ubiquitin-protein ligase activity ovary(1)|lung(1) 2 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) TGGTGTGACCCGGGTGCCCCT 0.632 NA 10 255 0 0 0 0 FAM122A 116224 broad.mit.edu 37 9 71395259 71395259 + Missense_Mutation SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr9:71395259G>T uc004agw.1 + 1 296 c.179G>T c.(178-180)CGG>CTG p.R60L PIP5K1B_uc004agu.2_Intron|PIP5K1B_uc011lrq.1_Intron|PIP5K1B_uc004agv.2_Intron NM_138333 NP_612206 Q96E09 F122A_HUMAN hypothetical protein LOC116224 60 0 AGCGCCAGGCGGAACAGCACA 0.697 NA 77 11 1.36e-49 2.01e-49 1 0 KIAA1529 57653 broad.mit.edu 37 9 100079416 100079416 + Missense_Mutation SNP A A C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr9:100079416A>C uc011lut.1 + 21 2187 c.1414A>C c.(1414-1416)ACC>CCC p.T472P KIAA1529_uc004axe.1_Missense_Mutation_p.T472P|KIAA1529_uc004axg.1_Missense_Mutation_p.T333P|KIAA1529_uc011lus.1_Missense_Mutation_p.T290P|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Missense_Mutation_p.T333P|KIAA1529_uc011luv.1_Missense_Mutation_p.T330P NM_020893 NP_065944 hypothetical protein LOC57653 ovary(4)|large_intestine(2)|skin(1) 7 Acute lymphoblastic leukemia(62;0.154) GATGGAGTCCACCCTGCAGCA 0.602 NA 10 124 0 0 0 0 RNF20 56254 broad.mit.edu 37 9 104319794 104319794 + Silent SNP G G A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr9:104319794G>A uc004bbn.2 + 16 2388 c.2298G>A c.(2296-2298)GAG>GAA p.E766E NM_019592 NP_062538 Q5VTR2 BRE1A_HUMAN ring finger protein 20 766 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) TCATGTCAGAGCGTATCAAGT 0.453 NA 77 13 0 0 0 0 SLC44A1 23446 broad.mit.edu 37 9 108136948 108136948 + Missense_Mutation SNP C C G rs71801338 TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr9:108136948C>G uc004bcn.2 + 13 1785 c.1564C>G c.(1564-1566)CTG>GTG p.L522V SLC44A1_uc010mtk.1_Missense_Mutation_p.L522V|SLC44A1_uc004bco.1_Missense_Mutation_p.L314V NM_080546 NP_536856 Q8WWI5 CTL1_HUMAN CDW92 antigen 522 Mitochondrial intermembrane (Potential). integral to membrane|mitochondrial outer membrane|plasma membrane choline transmembrane transporter activity breast(3)|ovary(1) 4 Choline(DB00122) CTTTGTCATTCTGGTGGAGAA 0.418 NA 100 135 0 0 0 0 FKBP15 23307 broad.mit.edu 37 9 115983487 115983487 + Missense_Mutation SNP G G A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr9:115983487G>A uc004bgs.2 - 1 155 c.37C>T c.(37-39)CTC>TTC p.L13F FKBP15_uc010muu.1_Missense_Mutation_p.L77F|SLC31A1_uc004bgu.2_5'Flank|SLC31A1_uc004bgv.3_5'Flank|FKBP15_uc011lxd.1_5'UTR|FKBP15_uc010mut.1_5'UTR|FKBP15_uc004bgt.2_Missense_Mutation_p.L13F NM_015258 NP_056073 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa 13 endocytosis|protein folding axon|early endosome actin binding ovary(3) 3 CTCGGCGAGAGGAAATCGGTG 0.627 NA 25 5 0 0 0 0 OR1J2 26740 broad.mit.edu 37 9 125273992 125273992 + Silent SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr9:125273992C>A uc004bmj.1 + 4 1767 c.912C>A c.(910-912)CTC>CTA p.L304L OR1J2_uc011lyv.1_Silent_p.L304L NM_054107 NP_473448 Q8NGS2 OR1J2_HUMAN olfactory receptor, family 1, subfamily J, 304 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|pancreas(1)|breast(1) 5 TTGGGAAACTCTTCAGTAGAG 0.383 NA 93 21 3.59e-34 5.13e-34 1 0 OR1L4 254973 broad.mit.edu 37 9 125486583 125486583 + Silent SNP C C T rs139043736 by1000genomes TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr9:125486583C>T uc004bmu.1 + 1 315 c.315C>T c.(313-315)TTC>TTT p.F105F NM_001005235 NP_001005235 Q8NGR5 OR1L4_HUMAN olfactory receptor, family 1, subfamily L, 105 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TGTACTTCTTCATGGCATTTG 0.473 NA 4 219 0 0 0 0 BARHL1 56751 broad.mit.edu 37 9 135464656 135464656 + Missense_Mutation SNP T T A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr9:135464656T>A uc004cbp.1 + 3 923 c.731T>A c.(730-732)CTG>CAG p.L244Q NM_020064 NP_064448 Q9BZE3 BARH1_HUMAN BarH-like homeobox 1 244 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05) TTGGAGCTGCTGGCGGAGGCA 0.632 NA 178 22 0 0 0 0 DBH 1621 broad.mit.edu 37 9 136505046 136505046 + Missense_Mutation SNP C C A rs78929918 TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr9:136505046C>A uc004cel.2 + 2 427 c.418C>A c.(418-420)CCA>ACA p.P140T NM_000787 NP_000778 P09172 DOPO_HUMAN dopamine beta hydroxylase precursor 140 DOMON.|Intragranular (Potential). hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane dopamine beta-monooxygenase activity|L-ascorbic acid binding ovary(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) GCAGAGGACCCCAGAAGGCCT 0.617 NA 26 8 4.88e-14 6.08e-14 1 0 NOTCH1 4851 broad.mit.edu 37 9 139412204 139412204 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr9:139412204C>A uc004chz.2 - 8 1441 c.1441G>T c.(1441-1443)GGC>TGC p.G481C NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 481 Extracellular (Potential).|EGF-like 12; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GCCGACGCACCGGGCATGCAG 0.667 NA T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 48 14 1.07e-20 1.43e-20 1 0 ASMT 438 broad.mit.edu 37 X 1748783 1748783 + Silent SNP G G A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chrX:1748783G>A uc004cqd.2 + 6 658 c.513G>A c.(511-513)GTG>GTA p.V171V ASMT_uc010ncy.2_Silent_p.V171V|ASMT_uc004cqe.2_Silent_p.V171V NM_004043 NP_004034 P46597 HIOM_HUMAN acetylserotonin O-methyltransferase 171 melatonin biosynthetic process|translation cytosol acetylserotonin O-methyltransferase activity|S-methyltransferase activity skin(1) 1 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) GGAGAAGCGTGCTGACCGCCT 0.552 NA 110 156 0 0 0 0 FRMPD4 9758 broad.mit.edu 37 X 12736646 12736646 + Missense_Mutation SNP C C T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chrX:12736646C>T uc004cuz.1 + 16 4207 c.3701C>T c.(3700-3702)CCC>CTC p.P1234L FRMPD4_uc011mij.1_Missense_Mutation_p.P1226L NM_014728 NP_055543 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 1234 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1) 13 TGTGCCACACCCGTGGAGTCG 0.597 NA 92 23 0 0 0 0 SCML2 10389 broad.mit.edu 37 X 18338540 18338540 + Missense_Mutation SNP C C G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chrX:18338540C>G uc004cyl.2 - 6 555 c.398G>C c.(397-399)GGG>GCG p.G133A SCML2_uc004cyk.3_RNA|SCML2_uc010nfd.1_Missense_Mutation_p.G133A|SCML2_uc011miz.1_Missense_Mutation_p.G67A NM_006089 NP_006080 Q9UQR0 SCML2_HUMAN sex comb on midleg-like 2 133 anatomical structure morphogenesis PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity 0 Hepatocellular(33;0.183) CATCTGGTACCCTGTTTTATA 0.353 NA 56 10 0 0 0 0 FAM47B 170062 broad.mit.edu 37 X 34962248 34962248 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chrX:34962248C>A uc004ddi.1 + 1 1318 c.1300C>A c.(1300-1302)CAT>AAT p.H434N NM_152631 NP_689844 Q8NA70 FA47B_HUMAN hypothetical protein LOC170062 434 ovary(3)|breast(1) 4 CGGAGCGTCCCATCTAAAAGA 0.517 NA 44 14 8.21e-20 1.08e-19 1 0 DGKK 139189 broad.mit.edu 37 X 50121610 50121610 + Missense_Mutation SNP C C T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chrX:50121610C>T uc010njr.1 - 21 3002 c.2942G>A c.(2941-2943)CGT>CAT p.R981H NM_001013742 NP_001013764 Q5KSL6 DGKK_HUMAN diacylglycerol kinase kappa 981 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1) 2 Ovarian(276;0.236) GTTGATGATACGGGACATTGC 0.542 NA 10 5 0 0 0 0 DGKK 139189 broad.mit.edu 37 X 50127734 50127734 + Missense_Mutation SNP C C G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chrX:50127734C>G uc010njr.1 - 16 2496 c.2436G>C c.(2434-2436)CAG>CAC p.Q812H NM_001013742 NP_001013764 Q5KSL6 DGKK_HUMAN diacylglycerol kinase kappa 812 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1) 2 Ovarian(276;0.236) GTGGGCTTGTCTGGTTAATAT 0.388 NA 113 25 0 0 0 0 ATP7A 538 broad.mit.edu 37 X 77294477 77294477 + Missense_Mutation SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chrX:77294477G>T uc004ecx.3 + 18 3815 c.3655G>T c.(3655-3657)GAT>TAT p.D1219Y NM_000052 NP_000043 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 1219 Cytoplasmic (Potential). ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity 0 AGTAGCAGTTGATGGTAAGGT 0.323 NA 62 18 2.34e-45 3.44e-45 1 0 POU3F4 5456 broad.mit.edu 37 X 82763828 82763828 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chrX:82763828C>A uc004eeg.2 + 1 560 c.496C>A c.(496-498)CTC>ATC p.L166I NM_000307 NP_000298 P49335 PO3F4_HUMAN POU domain, class 3, transcription factor 4 166 sensory perception of sound nucleus sequence-specific DNA binding transcription factor activity ovary(1) 1 GCACCCGGTGCTCCGAGAGCC 0.647 NA 6 1 0.00307968 0.00325998 1 0 GPRASP2 114928 broad.mit.edu 37 X 101970808 101970808 + Silent SNP G G A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chrX:101970808G>A uc004ejk.2 + 4 2345 c.1011G>A c.(1009-1011)CAG>CAA p.Q337Q GPRASP2_uc004ejl.2_Silent_p.Q337Q|GPRASP2_uc004ejm.2_Silent_p.Q337Q|GPRASP2_uc011mrp.1_5'Flank NM_138437 NP_612446 Q96D09 GASP2_HUMAN G protein-coupled receptor associated sorting 337 cytoplasm protein binding ovary(1) 1 TCTATAAGCAGTCCTGGGTTT 0.458 NA 71 19 0 0 0 0 COL4A5 1287 broad.mit.edu 37 X 107930715 107930715 + Missense_Mutation SNP C C T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chrX:107930715C>T uc004enz.1 + 48 4521 c.4319C>T c.(4318-4320)ACC>ATC p.T1440I COL4A5_uc011mso.1_Missense_Mutation_p.T1437I|COL4A5_uc011msp.1_Missense_Mutation_p.T116I NM_033380 NP_203699 P29400 CO4A5_HUMAN type IV collagen alpha 5 isoform 2 precursor 1434 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding ovary(3)|central_nervous_system(1) 4 GAAATAGGTACCCGTGGTTTG 0.443 NA Alport_syndrome_with_Diffuse_Leiomyomatosis 99 25 0 0 0 0 CD40LG 959 broad.mit.edu 37 X 135741549 135741549 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chrX:135741549C>A uc004faa.2 + 5 833 c.761C>A c.(760-762)ACG>AAG p.T254K CD40LG_uc010nsd.2_Missense_Mutation_p.T233K NM_000074 NP_000065 P29965 CD40L_HUMAN CD40 ligand 254 Extracellular (Potential). T -> M (in HIGM1). anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production extracellular space|integral to plasma membrane|soluble fraction CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding skin(1) 1 Acute lymphoblastic leukemia(192;0.000127) Atorvastatin(DB01076) ACTGGCTTCACGTCCTTTGGC 0.507 NA Immune_Deficiency_with_Hyper-IgM 66 15 9.5e-31 1.33e-30 1 0 MAGEC1 9947 broad.mit.edu 37 X 140993927 140993927 + Missense_Mutation SNP T T A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chrX:140993927T>A uc004fbt.2 + 4 1023 c.737T>A c.(736-738)CTG>CAG p.L246Q MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 246 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) TCCACTTTACTGAGTCTTTTC 0.498 NA HNSCC(15;0.026) 207 38 0 0 0 0 GRIK4 2900 broad.mit.edu 37 11 120690619 120690620 + Frame_Shift_Ins INS - - A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr11:120690619_120690620insA uc001pxn.2 + 6 788_789 c.501_502insA c.(499-504)GCCAAAfs p.A167fs GRIK4_uc009zav.1_Frame_Shift_Ins_p.A167fs|GRIK4_uc009zaw.1_Frame_Shift_Ins_p.A167fs|GRIK4_uc009zax.1_Frame_Shift_Ins_p.A167fs NM_014619 NP_055434 Q16099 GRIK4_HUMAN glutamate receptor KA1 precursor 167_168 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) TCATCTGTGCCAAAGCAGAATG 0.569 NA 111 70 --- --- --- --- NA NA NA NA MLL2 8085 broad.mit.edu 37 12 49445506 49445506 + Frame_Shift_Del DEL A A - TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr12:49445506delA uc001rta.3 - 10 1960 c.1960delT c.(1960-1962)TCCfs p.S654fs NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 654 15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 GGCAGGGGGGATAGGCGCGAT 0.637 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 31 52 --- --- --- --- NA NA NA NA FAM48A 55578 broad.mit.edu 37 13 37619383 37619383 + Splice_Site DEL C C - TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr13:37619383delC uc001uwg.2 - 6 540 c.292_splice c.e6+1 p.D98_splice FAM48A_uc010abt.2_Splice_Site_p.D99_splice|FAM48A_uc001uwh.2_Splice_Site_p.D99_splice|FAM48A_uc001uwi.2_Splice_Site_p.D98_splice|FAM48A_uc001uwj.2_Splice_Site_p.D99_splice|FAM48A_uc001uwk.2_Splice_Site_p.D98_splice|FAM48A_uc010tes.1_Splice_Site_p.D86_splice|FAM48A_uc001uwl.1_Splice_Site_p.D98_splice NM_001014286 NP_001014308 Q8NEM7 FA48A_HUMAN family with sequence similarity 48, member A autophagy|gastrulation SAGA-type complex protein binding 0 Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959) all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477) GAGGGTCTTACCTGATCCGTT 0.413 NA 22 41 --- --- --- --- NA NA NA NA LILRB2 10288 broad.mit.edu 37 19 54782747 54782747 + Frame_Shift_Del DEL C C - TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr19:54782747delC uc002qfb.2 - 6 1141 c.875delG c.(874-876)GGCfs p.G292fs LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Frame_Shift_Del_p.G292fs|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Frame_Shift_Del_p.G292fs|LILRB2_uc010yet.1_Frame_Shift_Del_p.G176fs|LILRB2_uc010yeu.1_RNA NM_005874 NP_005865 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, 292 Extracellular (Potential).|Ig-like C2-type 3. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity skin(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TCTGTACTGGCCCCCGTAGGA 0.677 NA 47 50 --- --- --- --- NA NA NA NA THADA 63892 broad.mit.edu 37 2 43801749 43801751 + In_Frame_Del DEL CAT CAT - TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr2:43801749_43801751delCAT uc002rsw.3 - 11 1805_1807 c.1453_1455delATG c.(1453-1455)ATGdel p.M485del THADA_uc002rsx.3_In_Frame_Del_p.M485del|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_In_Frame_Del_p.M195del|THADA_uc002rta.2_In_Frame_Del_p.M195del|THADA_uc002rtb.1_In_Frame_Del_p.M485del|THADA_uc002rtc.3_In_Frame_Del_p.M485del|THADA_uc002rtd.2_In_Frame_Del_p.M485del NM_001083953 NP_001077422 Q6YHU6 THADA_HUMAN thyroid adenoma associated 485 binding ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) ACTGGTCTCCCATCACCTCTAAG 0.394 NA 8 189 --- --- --- --- NA NA NA NA SPHKAP 80309 broad.mit.edu 37 2 228883596 228883596 + Frame_Shift_Del DEL G G - TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr2:228883596delG uc002vpq.2 - 7 2021 c.1974delC c.(1972-1974)TGCfs p.C658fs SPHKAP_uc002vpp.2_Frame_Shift_Del_p.C658fs|SPHKAP_uc010zlx.1_Frame_Shift_Del_p.C658fs NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 658 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CATTTTCTGAGCACAGGGTCT 0.433 NA 107 51 --- --- --- --- NA NA NA NA SLC24A3 57419 broad.mit.edu 37 20 19566110 19566110 + Frame_Shift_Del DEL G G - TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr20:19566110delG uc002wrl.2 + 6 731 c.534delG c.(532-534)GTGfs p.V178fs NM_020689 NP_065740 Q9HC58 NCKX3_HUMAN solute carrier family 24 178 Extracellular (Potential).|Alpha-1. integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity ovary(1) 1 AAGGCGATGTGGGAGTTGGCA 0.547 NA 21 174 --- --- --- --- NA NA NA NA GPR128 84873 broad.mit.edu 37 3 100349575 100349576 + Frame_Shift_Ins INS - - TT rs146877111 TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr3:100349575_100349576insTT uc003duc.2 + 3 524_525 c.256_257insTT c.(256-258)ATGfs p.M86fs NM_032787 NP_116176 Q96K78 GP128_HUMAN G protein-coupled receptor 128 precursor 86 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|skin(1) 4 TAGTACCTATATGGGTTTTACT 0.312 NA 33 120 --- --- --- --- NA NA NA NA TRAT1 50852 broad.mit.edu 37 3 108572466 108572466 + Splice_Site DEL G G - TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr3:108572466delG uc003dxi.1 + 6 448 c.304_splice c.e6-1 p.A102_splice TRAT1_uc010hpx.1_Splice_Site_p.A65_splice NM_016388 NP_057472 Q6PIZ9 TRAT1_HUMAN T-cell receptor interacting molecule cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity skin(1) 1 CTTTCTTTTAGGCAACCAATG 0.403 NA 50 215 --- --- --- --- NA NA NA NA PLXND1 23129 broad.mit.edu 37 3 129293227 129293227 + Frame_Shift_Del DEL C C - TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 93dda6a6-907d-4dc2-9391-36dd09c767c6 d6c21ecb-1cb2-45fd-84c0-186287708883 g.chr3:129293227delC uc003emx.2 - 12 2737 c.2637delG c.(2635-2637)GGGfs p.G879fs NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 precursor 879 Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane large_intestine(1) 1 GCTGCAGAGGCCCCCGCAGGC 0.687 NA 10 25 --- --- --- --- NA NA NA NA