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 PLEKHM2 23207 broad.mit.edu 37 1 16046240 16046240 + Silent SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr1:16046240C>T uc010obo.1 + 6 704 c.477C>T c.(475-477)TAC>TAT p.Y159Y NM_015164 NP_055979 Q8IWE5 PKHM2_HUMAN pleckstrin homology domain containing, family M 159 Interaction with KIF5B. Golgi organization cytoplasm kinesin binding ovary(1) 1 Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) ATGCCCCTTACCTAGACCTGG 0.607 NA 27 20 0 0 0 0 SRRM1 10250 broad.mit.edu 37 1 24978993 24978993 + Missense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr1:24978993C>G uc001bjm.2 + 7 1018 c.794C>G c.(793-795)TCC>TGC p.S265C SRRM1_uc010oel.1_Missense_Mutation_p.S265C|SRRM1_uc009vrh.1_Missense_Mutation_p.S226C|SRRM1_uc009vri.1_Missense_Mutation_p.S182C|SRRM1_uc010oem.1_RNA NM_005839 NP_005830 Q8IYB3 SRRM1_HUMAN serine/arginine repetitive matrix 1 265 Pro-rich.|Arg-rich. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|protein binding|RNA binding ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) GAAAAAAATTCCAAAAAAGAA 0.448 NA 10 11 0 0 0 0 COL16A1 1307 broad.mit.edu 37 1 32140630 32140630 + Missense_Mutation SNP G G C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr1:32140630G>C uc001btk.1 - 44 3202 c.2837C>G c.(2836-2838)CCA>CGA p.P946R COL16A1_uc001btj.1_Missense_Mutation_p.P759R NM_001856 NP_001847 Q07092 COGA1_HUMAN alpha 1 type XVI collagen precursor 946 Nonhelical region 4 (NC4). cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity ovary(8) 8 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) CTGTTCAATTGGTAAGGATCC 0.542 NA 7 11 0 0 0 0 ACOT11 26027 broad.mit.edu 37 1 55064970 55064970 + Missense_Mutation SNP C C T rs148238018 byFrequency TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr1:55064970C>T uc001cxm.1 + 8 848 c.766C>T c.(766-768)CGG>TGG p.R256W ACOT11_uc001cxj.1_Missense_Mutation_p.R134W|ACOT11_uc001cxl.1_Missense_Mutation_p.R256W NM_015547 NP_056362 Q8WXI4 ACO11_HUMAN thioesterase, adipose associated isoform BFIT1 256 Acyl coenzyme A hydrolase 2. fatty acid metabolic process|intracellular signal transduction|response to cold acyl-CoA thioesterase activity|carboxylesterase activity central_nervous_system(1) 1 CCTCCTCAGCCGGCTCTGCCG 0.522 NA 18 27 0 0 0 0 CYP2J2 1573 broad.mit.edu 37 1 60392390 60392390 + Missense_Mutation SNP G G A rs146801076 byFrequency TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr1:60392390G>A uc001czq.2 - 1 34 c.29C>T c.(28-30)GCT>GTT p.A10V NM_000775 NP_000766 P51589 CP2J2_HUMAN cytochrome P450, family 2, subfamily J, 10 epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process endoplasmic reticulum membrane|microsome arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity ovary(1) 1 all_cancers(7;0.000396) CCAGAGGGCAGCCGCCAGAGA 0.607 NA 4 9 0 0 0 0 ASPM 259266 broad.mit.edu 37 1 197091324 197091324 + Missense_Mutation SNP G G T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr1:197091324G>T uc001gtu.2 - 15 3963 c.3706C>A c.(3706-3708)CAT>AAT p.H1236N ASPM_uc001gtv.2_Missense_Mutation_p.H1236N|ASPM_uc001gtw.3_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 1236 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 ATATCTGAATGATTAATCATA 0.308 NA 10 40 0.000978159 0.00104388 1 0 ZC3H11A 9877 broad.mit.edu 37 1 203786208 203786208 + Missense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr1:203786208C>G uc001hac.2 + 5 626 c.10C>G c.(10-12)CAA>GAA p.Q4E ZC3H11A_uc001had.2_Missense_Mutation_p.Q4E|ZC3H11A_uc001hae.2_Missense_Mutation_p.Q4E|ZC3H11A_uc001haf.2_Missense_Mutation_p.Q4E|ZC3H11A_uc010pqm.1_Intron|ZC3H11A_uc001hag.1_Missense_Mutation_p.Q4E NM_014827 NP_055642 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 4 C3H1-type 1. nucleic acid binding|protein binding|zinc ion binding lung(1)|central_nervous_system(1) 2 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) CATGCCTAATCAAGGAGAAGA 0.388 NA 16 89 0 0 0 0 TMCC2 9911 broad.mit.edu 37 1 205210771 205210771 + Missense_Mutation SNP G G T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr1:205210771G>T uc001hbz.1 + 3 790 c.346G>T c.(346-348)GAC>TAC p.D116Y TMCC2_uc010prf.1_Missense_Mutation_p.D38Y NM_014858 NP_055673 O75069 TMCC2_HUMAN transmembrane and coiled-coil domain family 2 116 integral to membrane protein binding pancreas(1) 1 Breast(84;0.0871) BRCA - Breast invasive adenocarcinoma(75;0.117) GGGTATGTCCGACCATGACTC 0.637 NA 6 38 0.00116845 0.00124053 1 0 NID1 4811 broad.mit.edu 37 1 236205526 236205526 + Silent SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr1:236205526G>A uc001hxo.2 - 4 921 c.819C>T c.(817-819)GGC>GGT p.G273G NID1_uc009xgd.2_Silent_p.G273G NM_002508 NP_002499 P14543 NID1_HUMAN nidogen 1 precursor 273 cell-matrix adhesion basement membrane calcium ion binding large_intestine(1)|pancreas(1) 2 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) CAGGCACCACGCCATTGGTGG 0.557 NA 59 152 0 0 0 0 OR2M3 127062 broad.mit.edu 37 1 248367254 248367254 + Silent SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr1:248367254G>A uc010pzg.1 + 1 885 c.885G>A c.(883-885)AAG>AAA p.K295K NM_001004689 NP_001004689 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, 295 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TCCGCAACAAGGAGGTGACCA 0.458 NA 30 83 0 0 0 0 OR2T1 26696 broad.mit.edu 37 1 248569576 248569576 + Missense_Mutation SNP T T A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr1:248569576T>A uc010pzm.1 + 1 281 c.281T>A c.(280-282)GTT>GAT p.V94D NM_030904 NP_112166 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, 94 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GCCAATGGGGTTATGATCTTC 0.428 NA 20 136 0 0 0 0 CBARA1 10367 broad.mit.edu 37 10 74234891 74234891 + Silent SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr10:74234891C>T uc001jtb.1 - 9 1039 c.906G>A c.(904-906)CAG>CAA p.Q302Q CBARA1_uc010qjw.1_Silent_p.Q102Q|CBARA1_uc010qjx.1_Silent_p.Q102Q|CBARA1_uc009xqo.1_RNA NM_006077 NP_006068 Q9BPX6 MICU1_HUMAN calcium binding atopy-related autoantigen 1 300 calcium ion import|defense response|elevation of mitochondrial calcium ion concentration integral to membrane|mitochondrial inner membrane calcium ion binding|protein binding ovary(1) 1 GCAGTTTACGCTGAAATTCGA 0.468 NA 4 10 0 0 0 0 CC2D2B 387707 broad.mit.edu 37 10 97779477 97779477 + Missense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr10:97779477C>G uc001kll.2 + 8 875 c.676C>G c.(676-678)CAA>GAA p.Q226E uc001klg.1_Intron|uc001klj.1_Intron|CC2D2B_uc001klk.2_Intron|CC2D2B_uc010qop.1_Missense_Mutation_p.Q226E|uc009xvb.1_RNA NM_001001732 NP_001001732 Q6DHV5 C2D2B_HUMAN coiled-coil and C2 domain containing 2B isoform 226 ovary(1) 1 Colorectal(252;0.158) Epithelial(162;7.08e-08)|all cancers(201;2.71e-06) TAATATTCAACAAAATAATAC 0.333 NA 34 126 0 0 0 0 TM9SF3 56889 broad.mit.edu 37 10 98292908 98292908 + Missense_Mutation SNP G G C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr10:98292908G>C uc001kmm.3 - 10 1442 c.1225C>G c.(1225-1227)CTA>GTA p.L409V TM9SF3_uc010qot.1_Missense_Mutation_p.L409V NM_020123 NP_064508 Q9HD45 TM9S3_HUMAN transmembrane 9 superfamily member 3 precursor 409 Helical; (Potential). integral to membrane binding 0 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) ACAAGATTTAGAGGAAGAATA 0.363 NA 17 31 0 0 0 0 C10orf12 26148 broad.mit.edu 37 10 98744407 98744407 + Missense_Mutation SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr10:98744407G>A uc001kmv.2 + 1 3367 c.3260G>A c.(3259-3261)AGT>AAT p.S1087N NM_015652 NP_056467 Q8N655 CJ012_HUMAN hypothetical protein LOC26148 1087 skin(2) 2 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) GAAGTTCAGAGTAAACGCAAG 0.488 NA 20 24 0 0 0 0 PDCD11 22984 broad.mit.edu 37 10 105174033 105174033 + Silent SNP T T C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr10:105174033T>C uc001kwy.1 + 11 1404 c.1317T>C c.(1315-1317)ATT>ATC p.I439I NM_014976 NP_055791 Q14690 RRP5_HUMAN programmed cell death 11 439 mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding ovary(2)|breast(2)|skin(2)|central_nervous_system(1) 7 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) CTAGGTCTATTATTGAAGCTC 0.438 NA 7 19 0 0 0 0 SORCS3 22986 broad.mit.edu 37 10 106982948 106982948 + Missense_Mutation SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr10:106982948G>A uc001kyi.1 + 20 3036 c.2809G>A c.(2809-2811)GTG>ATG p.V937M SORCS3_uc010qqz.1_RNA NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 937 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) CAGTGCAGTCGTGTGGCCCAG 0.448 NA 50 53 0 0 0 0 KIAA1598 57698 broad.mit.edu 37 10 118713583 118713583 + Missense_Mutation SNP C C A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr10:118713583C>A uc009xyw.2 - 5 904 c.406G>T c.(406-408)GTC>TTC p.V136F KIAA1598_uc001lcz.3_Missense_Mutation_p.V136F|KIAA1598_uc010qso.1_Missense_Mutation_p.V76F|KIAA1598_uc010qsp.1_Missense_Mutation_p.V136F|KIAA1598_uc010qsq.1_Missense_Mutation_p.V76F|KIAA1598_uc001lcy.3_Missense_Mutation_p.V106F NM_001127211 NP_001120683 A0MZ66 SHOT1_HUMAN shootin1 isoform a 136 Potential. axon guidance axon 0 all cancers(201;0.00494) TGTACTGAGACACAAGTCTCG 0.363 NA 19 26 6.45e-10 7.54e-10 1 0 PDZD8 118987 broad.mit.edu 37 10 119044328 119044328 + Missense_Mutation SNP A A G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr10:119044328A>G uc001lde.1 - 5 2115 c.1916T>C c.(1915-1917)GTG>GCG p.V639A NM_173791 NP_776152 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 639 intracellular signal transduction metal ion binding 0 Colorectal(252;0.19) all cancers(201;0.0121) TATGGCATCCACATTTTTTGC 0.453 NA 6 55 0 0 0 0 ODF3 113746 broad.mit.edu 37 11 197593 197593 + Missense_Mutation SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr11:197593G>A uc001lob.2 + 3 436 c.142G>A c.(142-144)GCA>ACA p.A48T ODF3_uc010qvk.1_Missense_Mutation_p.A48T|ODF3_uc001loc.2_Missense_Mutation_p.A48T NM_053280 NP_444510 Q96PU9 ODF3A_HUMAN outer dense fiber of sperm tails 3 48 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm ovary(1) 1 all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122) CAAGCTGCGTGCACCGGCCTA 0.637 NA 20 23 0 0 0 0 TNNI2 7136 broad.mit.edu 37 11 1862048 1862048 + Splice_Site SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr11:1862048G>A uc010qxe.1 + 4 209 c.187_splice c.e4-1 p.E63_splice TNNI2_uc010qxc.1_Splice_Site_p.E61_splice|TNNI2_uc010qxd.1_Splice_Site_p.E61_splice NM_001145841 NP_001139313 P48788 TNNI2_HUMAN fast-twitch skeletal muscle troponin I isoform muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction cytosol|nucleus|troponin complex actin binding|troponin T binding 0 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CCCACCCCTAGGAGCTCTGCA 0.637 NA 7 10 0 0 0 0 KCNJ11 3767 broad.mit.edu 37 11 17409554 17409554 + Missense_Mutation SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr11:17409554G>A uc001mna.2 - 1 653 c.85C>T c.(85-87)CGC>TGC p.R29C KCNJ11_uc001mnb.3_Intron NM_000525 NP_000516 B4DWI4 B4DWI4_HUMAN potassium inwardly-rectifying channel J11 29 integral to membrane ATP-activated inward rectifier potassium channel activity ovary(1) 1 READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633) CTCCGCTGGCGGGCACGGTAC 0.652 NA 24 50 0 0 0 0 HRASLS2 54979 broad.mit.edu 37 11 63325937 63325937 + Missense_Mutation SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr11:63325937G>A uc001nxg.1 - 3 373 c.314C>T c.(313-315)CCT>CTT p.P105L NM_017878 NP_060348 Q9NWW9 HRSL2_HUMAN HRAS-like suppressor 2 105 lipid catabolic process cytoplasm acyltransferase activity|hydrolase activity 0 CAGCGAATAAGGCAACTCCTG 0.547 NA 12 46 0 0 0 0 SLC25A45 283130 broad.mit.edu 37 11 65144112 65144112 + Silent SNP T T A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr11:65144112T>A uc001odp.1 - 6 1055 c.633A>T c.(631-633)GCA>GCT p.A211A SLC25A45_uc009yqi.1_Silent_p.A149A|SLC25A45_uc001odq.1_Silent_p.A187A|SLC25A45_uc001odr.1_Silent_p.A211A|SLC25A45_uc001ods.1_Silent_p.A169A|SLC25A45_uc001odt.1_Silent_p.A169A NM_001077241 NP_001070709 Q8N413 S2545_HUMAN solute carrier family 25, member 45 isoform b 211 Helical; Name=5; (Potential).|Solcar 3. transmembrane transport integral to membrane|mitochondrial inner membrane binding 0 AAGCAATGCCTGCAAAGCCCC 0.612 NA 30 19 0 0 0 0 CD248 57124 broad.mit.edu 37 11 66083244 66083244 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr11:66083244C>T uc001ohm.1 - 1 1272 c.1255G>A c.(1255-1257)GAG>AAG p.E419K NM_020404 NP_065137 Q9HCU0 CD248_HUMAN tumor endothelial marker 1 precursor 419 Pro-rich.|Extracellular (Potential). integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding large_intestine(3) 3 Cefalotin(DB00456) ATCTGTGGCTCTCTGTCCTCT 0.657 NA 28 107 0 0 0 0 CD248 57124 broad.mit.edu 37 11 66083246 66083246 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr11:66083246C>T uc001ohm.1 - 1 1270 c.1253G>A c.(1252-1254)AGA>AAA p.R418K NM_020404 NP_065137 Q9HCU0 CD248_HUMAN tumor endothelial marker 1 precursor 418 Pro-rich.|Extracellular (Potential). integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding large_intestine(3) 3 Cefalotin(DB00456) CTGTGGCTCTCTGTCCTCTGG 0.652 NA 28 107 0 0 0 0 CD248 57124 broad.mit.edu 37 11 66083267 66083267 + Missense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr11:66083267C>G uc001ohm.1 - 1 1249 c.1232G>C c.(1231-1233)AGA>ACA p.R411T NM_020404 NP_065137 Q9HCU0 CD248_HUMAN tumor endothelial marker 1 precursor 411 Pro-rich.|Extracellular (Potential). integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding large_intestine(3) 3 Cefalotin(DB00456) GAAGCTCGGTCTATAGGCCAG 0.647 NA 24 95 0 0 0 0 CD248 57124 broad.mit.edu 37 11 66083379 66083379 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr11:66083379C>T uc001ohm.1 - 1 1137 c.1120G>A c.(1120-1122)GAT>AAT p.D374N NM_020404 NP_065137 Q9HCU0 CD248_HUMAN tumor endothelial marker 1 precursor 374 Extracellular (Potential). integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding large_intestine(3) 3 Cefalotin(DB00456) TCTTCCTCATCCTCCCCGTCA 0.622 NA 41 55 0 0 0 0 CD248 57124 broad.mit.edu 37 11 66083463 66083463 + Missense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr11:66083463C>G uc001ohm.1 - 1 1053 c.1036G>C c.(1036-1038)GAT>CAT p.D346H NM_020404 NP_065137 Q9HCU0 CD248_HUMAN tumor endothelial marker 1 precursor 346 EGF-like; calcium-binding (Potential).|Extracellular (Potential). integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding large_intestine(3) 3 Cefalotin(DB00456) CTGATGCCATCAGCCTCCAGC 0.577 NA 29 33 0 0 0 0 CD248 57124 broad.mit.edu 37 11 66083527 66083527 + Silent SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr11:66083527C>T uc001ohm.1 - 1 989 c.972G>A c.(970-972)CAG>CAA p.Q324Q NM_020404 NP_065137 Q9HCU0 CD248_HUMAN tumor endothelial marker 1 precursor 324 EGF-like; calcium-binding (Potential).|Extracellular (Potential). integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding large_intestine(3) 3 Cefalotin(DB00456) TGACACACATCTGCTGGCACA 0.602 NA 17 31 0 0 0 0 CD248 57124 broad.mit.edu 37 11 66083548 66083548 + Missense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr11:66083548C>G uc001ohm.1 - 1 968 c.951G>C c.(949-951)CAG>CAC p.Q317H NM_020404 NP_065137 Q9HCU0 CD248_HUMAN tumor endothelial marker 1 precursor 317 EGF-like; calcium-binding (Potential).|Extracellular (Potential). integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding large_intestine(3) 3 Cefalotin(DB00456) CACCGGCAATCTGGCACTCAT 0.597 NA 13 29 0 0 0 0 CD248 57124 broad.mit.edu 37 11 66083586 66083586 + Missense_Mutation SNP C C A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr11:66083586C>A uc001ohm.1 - 1 930 c.913G>T c.(913-915)GAT>TAT p.D305Y NM_020404 NP_065137 Q9HCU0 CD248_HUMAN tumor endothelial marker 1 precursor 305 Extracellular (Potential). integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding large_intestine(3) 3 Cefalotin(DB00456) TGCGGATCATCCTCCGCTGGC 0.617 NA 12 25 1.05e-09 1.22e-09 1 0 CD248 57124 broad.mit.edu 37 11 66083748 66083748 + Missense_Mutation SNP C C A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr11:66083748C>A uc001ohm.1 - 1 768 c.751G>T c.(751-753)GAT>TAT p.D251Y NM_020404 NP_065137 Q9HCU0 CD248_HUMAN tumor endothelial marker 1 precursor 251 Extracellular (Potential). integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding large_intestine(3) 3 Cefalotin(DB00456) ACGTGACCATCCACCTCCTCC 0.687 NA 27 33 0.000184323 0.000199282 1 0 CD248 57124 broad.mit.edu 37 11 66083845 66083845 + Silent SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr11:66083845C>T uc001ohm.1 - 1 671 c.654G>A c.(652-654)GAG>GAA p.E218E NM_020404 NP_065137 Q9HCU0 CD248_HUMAN tumor endothelial marker 1 precursor 218 Sushi.|Extracellular (Potential). integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding large_intestine(3) 3 Cefalotin(DB00456) CCACACCTCCCTCAGGCTGCT 0.662 NA 25 20 0 0 0 0 CD248 57124 broad.mit.edu 37 11 66083847 66083847 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr11:66083847C>T uc001ohm.1 - 1 669 c.652G>A c.(652-654)GAG>AAG p.E218K NM_020404 NP_065137 Q9HCU0 CD248_HUMAN tumor endothelial marker 1 precursor 218 Sushi.|Extracellular (Potential). integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding large_intestine(3) 3 Cefalotin(DB00456) ACACCTCCCTCAGGCTGCTTC 0.667 NA 24 20 0 0 0 0 CD248 57124 broad.mit.edu 37 11 66083928 66083928 + Missense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr11:66083928C>G uc001ohm.1 - 1 588 c.571G>C c.(571-573)GAG>CAG p.E191Q NM_020404 NP_065137 Q9HCU0 CD248_HUMAN tumor endothelial marker 1 precursor 191 Sushi.|Extracellular (Potential). integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding large_intestine(3) 3 Cefalotin(DB00456) GGCAGCCACTCAAACTCTGTG 0.677 NA 12 22 0 0 0 0 CD248 57124 broad.mit.edu 37 11 66084045 66084045 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr11:66084045C>T uc001ohm.1 - 1 471 c.454G>A c.(454-456)GAC>AAC p.D152N NM_020404 NP_065137 Q9HCU0 CD248_HUMAN tumor endothelial marker 1 precursor 152 C-type lectin.|Extracellular (Potential). integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding large_intestine(3) 3 Cefalotin(DB00456) AGGTAGCCGTCGACAGCCAGC 0.716 NA 17 15 0 0 0 0 CD248 57124 broad.mit.edu 37 11 66084084 66084084 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr11:66084084C>T uc001ohm.1 - 1 432 c.415G>A c.(415-417)GAG>AAG p.E139K NM_020404 NP_065137 Q9HCU0 CD248_HUMAN tumor endothelial marker 1 precursor 139 C-type lectin.|Extracellular (Potential). integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding large_intestine(3) 3 Cefalotin(DB00456) CAGCGGTGCTCGCCACTTGCC 0.706 NA 21 17 0 0 0 0 TPCN2 219931 broad.mit.edu 37 11 68835058 68835058 + Missense_Mutation SNP G G A rs142288453 byFrequency TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr11:68835058G>A uc001oos.2 + 8 930 c.814G>A c.(814-816)GCC>ACC p.A272T TPCN2_uc009ysk.1_Intron|TPCN2_uc001oor.2_Missense_Mutation_p.A187T|TPCN2_uc010rqg.1_Missense_Mutation_p.A272T NM_139075 NP_620714 Q8NHX9 TPC2_HUMAN two pore segment channel 2 272 cellular calcium ion homeostasis|smooth muscle contraction endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) GCTGACCACGGCCAACAACCC 0.637 NA 12 366 0 0 0 0 KRTAP5-8 57830 broad.mit.edu 37 11 71249400 71249400 + Missense_Mutation SNP G G T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr11:71249400G>T uc001oqr.1 + 1 330 c.299G>T c.(298-300)TGT>TTT p.C100F NM_021046 NP_066384 O75690 KRA58_HUMAN keratin associated protein 5-8 100 9 X 4 AA repeats of C-C-X-P. extracellular region|keratin filament structural constituent of epidermis 0 TCCTCAGGCTGTGGGTCATCC 0.612 NA 72 504 3.79e-24 4.64e-24 1 0 TMEM135 65084 broad.mit.edu 37 11 87016978 87016978 + Missense_Mutation SNP A A G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr11:87016978A>G uc001pch.2 + 9 722 c.699A>G c.(697-699)ATA>ATG p.I233M TMEM135_uc010rtt.1_Missense_Mutation_p.I94M|TMEM135_uc001pci.2_Missense_Mutation_p.I211M NM_022918 NP_075069 Q86UB9 TM135_HUMAN transmembrane protein 135 233 integral to membrane 0 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) TCAATTTCAGATGCAAACATG 0.284 NA 18 25 0 0 0 0 HSPA8 3312 broad.mit.edu 37 11 122930647 122930647 + Silent SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr11:122930647C>T uc001pyo.2 - 5 732 c.654G>A c.(652-654)GAG>GAA p.E218E HSPA8_uc009zbc.2_5'UTR|HSPA8_uc001pyp.2_Silent_p.E218E|HSPA8_uc010rzu.1_Silent_p.E141E|HSPA8_uc009zbd.1_Silent_p.E218E|HSPA8_uc010rzv.1_3'UTR NM_006597 NP_006588 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 isoform 1 218 Interaction with BAG1. cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding central_nervous_system(7)|lung(1) 8 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) TAGACTTGACCTCAAAGATTC 0.453 NA 5 32 0 0 0 0 PARP11 57097 broad.mit.edu 37 12 3921420 3921420 + Nonsense_Mutation SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr12:3921420G>A uc001qmk.1 - 7 920 c.865C>T c.(865-867)CGA>TGA p.R289* PARP11_uc001qml.2_Nonsense_Mutation_p.R296*|PARP11_uc009zef.2_RNA|PARP11_uc001qmm.2_Nonsense_Mutation_p.R215*|PARP11_uc001qmn.2_Nonsense_Mutation_p.R215* NM_020367 NP_065100 Q9NR21 PAR11_HUMAN poly (ADP-ribose) polymerase family, member 11 289 PARP catalytic. NAD+ ADP-ribosyltransferase activity ovary(1)|central_nervous_system(1) 2 all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264) GAAGGAGGTCGCATGTATTTG 0.413 NA 39 82 0 0 0 0 C12orf4 57102 broad.mit.edu 37 12 4627336 4627336 + Missense_Mutation SNP A A T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr12:4627336A>T uc001qms.2 - 8 1009 c.921T>A c.(919-921)AGT>AGA p.S307R C12orf4_uc001qmt.2_Missense_Mutation_p.S307R NM_020374 NP_065107 Q9NQ89 CL004_HUMAN hypothetical protein LOC57102 307 0 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229) BRCA - Breast invasive adenocarcinoma(232;0.0281) GTTTCACACCACTTCGATGAT 0.413 NA 55 67 0 0 0 0 COPZ1 22818 broad.mit.edu 37 12 54744278 54744278 + Missense_Mutation SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr12:54744278G>A uc001sfs.1 + 9 542 c.505G>A c.(505-507)GAA>AAA p.E169K COPZ1_uc001sft.2_Missense_Mutation_p.E118K|COPZ1_uc009znm.1_Missense_Mutation_p.E177K|COPZ1_uc010sot.1_Missense_Mutation_p.E146K NM_016057 NP_057141 P61923 COPZ1_HUMAN coatomer protein complex, subunit zeta 1 169 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol 0 GTCAGCCAAAGAACAGATCAA 0.493 NA 10 148 0 0 0 0 TMEM5 10329 broad.mit.edu 37 12 64202512 64202512 + Missense_Mutation SNP G G C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr12:64202512G>C uc001srq.1 + 6 1076 c.972G>C c.(970-972)CAG>CAC p.Q324H TMEM5_uc001srr.1_Missense_Mutation_p.Q221H|TMEM5_uc001srs.1_Missense_Mutation_p.Q64H NM_014254 NP_055069 Q9Y2B1 TMEM5_HUMAN transmembrane protein 5 324 Extracellular (Potential). integral to plasma membrane 0 Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(9;0.0985) GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175) CCTTGCTTCAGAGTGATCTCA 0.428 NA 27 60 0 0 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72057278 72057278 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr12:72057278C>T uc001swo.2 - 1 472 c.113G>A c.(112-114)AGT>AAT p.S38N ZFC3H1_uc010sts.1_Missense_Mutation_p.S38N|ZFC3H1_uc001swp.2_Missense_Mutation_p.S38N|THAP2_uc001swq.2_5'Flank NM_144982 NP_659419 O60293 ZC3H1_HUMAN proline/serine-rich coiled-coil 2 38 Ser-rich. RNA processing intracellular metal ion binding ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 GCTGCTCCGACTCCGTATCTG 0.657 NA OREG0021993 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 60 106 0 0 0 0 LHX5 64211 broad.mit.edu 37 12 113906037 113906037 + Silent SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr12:113906037C>T uc001tvj.1 - 3 1144 c.570G>A c.(568-570)AAG>AAA p.K190K NM_022363 NP_071758 Q9H2C1 LHX5_HUMAN LIM homeobox protein 5 190 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 TCTCCAGCTGCTTGGCCTTGA 0.672 NA 15 24 0 0 0 0 FBXO21 23014 broad.mit.edu 37 12 117615346 117615346 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr12:117615346C>T uc001twk.2 - 4 610 c.571G>A c.(571-573)GAC>AAC p.D191N FBXO21_uc001twj.2_Missense_Mutation_p.D191N|FBXO21_uc009zwq.2_Missense_Mutation_p.D191N NM_033624 NP_296373 O94952 FBX21_HUMAN F-box only protein 21 isoform 1 191 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) GACTCATAGTCATCTGGCTGC 0.378 NA 47 50 0 0 0 0 KSR2 283455 broad.mit.edu 37 12 117968797 117968797 + Missense_Mutation SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr12:117968797G>A uc001two.2 - 12 1719 c.1664C>T c.(1663-1665)ACG>ATG p.T555M NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 584 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1) 15 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CCGGGTCGGCGTCTCCGGCAC 0.562 NA 51 94 0 0 0 0 HSPH1 10808 broad.mit.edu 37 13 31711647 31711647 + Silent SNP T T C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr13:31711647T>C uc001utj.2 - 18 2783 c.2385A>G c.(2383-2385)ACA>ACG p.T795T HSPH1_uc001utk.2_Silent_p.T751T|HSPH1_uc010aaw.2_Silent_p.T754T|HSPH1_uc001utl.2_Silent_p.T797T|HSPH1_uc010tds.1_Silent_p.T719T NM_006644 NP_006635 Q92598 HS105_HUMAN heat shock 105kD 795 positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein cytoplasm|extracellular region ATP binding 0 Lung SC(185;0.0257) all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125) CGGGTTCACATGTGTTGTTCA 0.358 NA 23 22 0 0 0 0 MLNR 2862 broad.mit.edu 37 13 49796405 49796405 + Silent SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr13:49796405G>A uc010tgj.1 + 2 1131 c.1131G>A c.(1129-1131)CCG>CCA p.P377P NM_001507 NP_001498 O43193 MTLR_HUMAN motilin receptor 377 Cytoplasmic (Potential). digestion integral to plasma membrane growth hormone-releasing hormone receptor activity 0 all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;6.1e-09) AGTCCAGGCCGAGAGGCTTCC 0.552 NA 29 15 0 0 0 0 TEP1 7011 broad.mit.edu 37 14 20837659 20837659 + Silent SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr14:20837659G>A uc001vxe.2 - 53 7540 c.7500C>T c.(7498-7500)ACC>ACT p.T2500T TEP1_uc010ahj.1_RNA|TEP1_uc010ahk.2_Silent_p.T1843T|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Silent_p.T2392T NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 2500 WD 19. telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding ovary(5) 5 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) TGTTACCTGTGGTCCATTCTC 0.488 NA 5 73 0 0 0 0 JUB 84962 broad.mit.edu 37 14 23450641 23450641 + Nonsense_Mutation SNP C C A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr14:23450641C>A uc001whz.2 - 1 1211 c.835G>T c.(835-837)GAG>TAG p.E279* NM_032876 NP_116265 Q96IF1 JUB_HUMAN ajuba isoform 1 279 PreLIM. cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center alpha-catenin binding|zinc ion binding 0 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.0122) GCTGTTAGCTCGTCCTGGTAC 0.711 NA 7 15 8.13e-05 8.86e-05 1 0 PSMB5 5693 broad.mit.edu 37 14 23502633 23502633 + Missense_Mutation SNP T T C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr14:23502633T>C uc001wii.2 - 2 713 c.449A>G c.(448-450)AAA>AGA p.K150R PSMB5_uc001wij.2_Missense_Mutation_p.K150R|PSMB5_uc010tni.1_Missense_Mutation_p.K47R NM_002797 NP_002788 P28074 PSB5_HUMAN proteasome beta 5 subunit isoform 1 150 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus protein binding|threonine-type endopeptidase activity ovary(1) 1 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.0121) Bortezomib(DB00188) CCCCATGCCTTTGTACTGATA 0.517 NA 33 69 0 0 0 0 ACIN1 22985 broad.mit.edu 37 14 23535181 23535181 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr14:23535181C>T uc001wit.3 - 10 2804 c.2476G>A c.(2476-2478)GTT>ATT p.V826I ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Missense_Mutation_p.V68I|ACIN1_uc001wiq.3_Missense_Mutation_p.V68I|ACIN1_uc001wir.3_Missense_Mutation_p.V99I|ACIN1_uc001wis.3_Missense_Mutation_p.V508I|ACIN1_uc010akg.2_Missense_Mutation_p.V826I NM_014977 NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 826 apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding ovary(2)|large_intestine(1)|skin(1) 4 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) TTACAGACAACGGAGATCTTC 0.433 NA 15 39 0 0 0 0 HECTD1 25831 broad.mit.edu 37 14 31626071 31626071 + Missense_Mutation SNP T T G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr14:31626071T>G uc001wrc.1 - 12 2396 c.1907A>C c.(1906-1908)AAT>ACT p.N636T HECTD1_uc001wrd.1_Missense_Mutation_p.N151T NM_015382 NP_056197 Q9ULT8 HECD1_HUMAN HECT domain containing 1 636 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity ovary(3)|large_intestine(1)|lung(1) 5 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) TTCCTCTTCATTCTCATCATC 0.343 NA 25 36 0 0 0 0 C14orf104 55172 broad.mit.edu 37 14 50100984 50100985 + Missense_Mutation DNP GC GC TT TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr14:50100984_50100985GC>TT uc001wws.3 - 1 964_965 c.883_884GC>AA c.(883-885)GCC>AAC p.A295N SDCCAG1_uc010anj.1_Intron|C14orf104_uc001wwt.3_Missense_Mutation_p.A295N NM_018139 NP_060609 Q9NVR5 KTU_HUMAN kintoun isoform 1 295 axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility cytoplasm 0 all_epithelial(31;0.0021)|Breast(41;0.0124) CGCCTGCTCGGCCGAGCGCAAC 0.653 NA Kartagener_syndrome 10 26 0 0 0 0 SLC35F4 341880 broad.mit.edu 37 14 58036671 58036671 + Missense_Mutation SNP C C A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr14:58036671C>A uc001xdb.1 - 6 1069 c.1069G>T c.(1069-1071)GCC>TCC p.A357S SLC35F4_uc010aoz.1_RNA|SLC35F4_uc010apa.1_Missense_Mutation_p.A198S NM_001080455 NP_001073924 solute carrier family 35, member F4 ovary(2) 2 CCAAAGTTGGCACTTCCAAGA 0.428 NA 9 12 0.00829132 0.00864726 1 0 SIX4 51804 broad.mit.edu 37 14 61180764 61180764 + Silent SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr14:61180764C>T uc001xfc.2 - 3 1707 c.1707G>A c.(1705-1707)CAG>CAA p.Q569Q NM_017420 NP_059116 Q9UIU6 SIX4_HUMAN sine oculis homeobox homolog 4 569 nucleus breast(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(108;0.0275) CCAAGCCTTCCTGTTTCACAG 0.468 NA 13 19 0 0 0 0 EXD2 55218 broad.mit.edu 37 14 69704290 69704290 + Splice_Site SNP A A G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr14:69704290A>G uc001xkt.2 + 10 1577 c.918_splice c.e10-2 p.R306_splice EXD2_uc001xku.2_Splice_Site_p.R176_splice|EXD2_uc001xkv.2_Splice_Site_p.R431_splice|EXD2_uc001xkw.2_Splice_Site_p.R306_splice|EXD2_uc010aqt.2_Splice_Site_p.R431_splice|EXD2_uc010tte.1_Splice_Site_p.R431_splice|EXD2_uc001xky.2_Splice_Site_p.R306_splice NM_018199 NP_060669 Q9NVH0 EXD2_HUMAN exonuclease 3'-5' domain containing 2 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding 0 GGCTTGTTCCAGGAAGAACGT 0.552 NA 14 23 0 0 0 0 SEL1L 6400 broad.mit.edu 37 14 81965994 81965995 + Missense_Mutation DNP GA GA TT TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr14:81965994_81965995GA>TT uc010tvv.1 - 7 906_907 c.789_790TC>AA c.(787-792)TTTCTG>TTAATG p.263_264FL>LM SEL1L_uc001xvo.3_Missense_Mutation_p.263_264FL>LM NM_005065 NP_005056 Q9UBV2 SE1L1_HUMAN sel-1 suppressor of lin-12-like precursor 263_264 Lumenal (Potential).|Interaction with ERLEC1, OS9 and SYVN1.|Sel1-like 3. Notch signaling pathway endoplasmic reticulum membrane|integral to membrane protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.0299) GAGGCATACAGAAAGCCAAGAG 0.337 NA 8 34 0 0 0 0 C15orf2 23742 broad.mit.edu 37 15 24921325 24921325 + Missense_Mutation SNP A A C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr15:24921325A>C uc001ywo.2 + 1 785 c.311A>C c.(310-312)AAC>ACC p.N104T NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 104 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) CCTGCTCGGAACCCCCCGAGG 0.682 NA 4 49 0 0 0 0 HERC2 8924 broad.mit.edu 37 15 28389228 28389228 + Missense_Mutation SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr15:28389228G>A uc001zbj.2 - 73 11400 c.11294C>T c.(11293-11295)GCC>GTC p.A3765V NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 3765 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) TTTACCTAGGGCACTCAGCTG 0.507 NA 30 64 0 0 0 0 TTBK2 146057 broad.mit.edu 37 15 43102902 43102902 + Silent SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr15:43102902G>A uc001zqo.2 - 9 1171 c.732C>T c.(730-732)CAC>CAT p.H244H TTBK2_uc010bcy.2_Silent_p.H175H|TTBK2_uc001zqp.2_Silent_p.H244H|TTBK2_uc010bcz.1_Silent_p.H209H NM_173500 NP_775771 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 244 Protein kinase. cell death ATP binding|protein serine/threonine kinase activity ovary(2)|lung(2)|stomach(1)|pancreas(1)|skin(1) 7 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) ACATGAGCCTGTGGTCATATC 0.413 NA 31 52 0 0 0 0 SLC30A4 7782 broad.mit.edu 37 15 45814465 45814465 + Missense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr15:45814465C>G uc001zvj.2 - 2 400 c.88G>C c.(88-90)GAC>CAC p.D30H C15orf21_uc010beg.1_Intron|C15orf21_uc010beh.1_Intron|C15orf21_uc010bei.1_Intron|C15orf21_uc010bej.1_Intron|C15orf21_uc001zvm.1_Intron|C15orf21_uc001zvn.1_Intron NM_013309 NP_037441 O14863 ZNT4_HUMAN solute carrier family 30 (zinc transporter), 30 Cytoplasmic (Potential).|Asp-rich (acidic). D -> E (in Ref. 1; AAB82561). regulation of sequestering of zinc ion|response to toxin endosome membrane|integral to membrane|late endosome zinc ion transmembrane transporter activity 0 Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06) TCCGAGAAGTCAAAGGCGCTG 0.572 NA 23 33 0 0 0 0 ADPGK 83440 broad.mit.edu 37 15 73044806 73044806 + Missense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr15:73044806C>G uc002avg.3 - 7 1464 c.1370G>C c.(1369-1371)AGA>ACA p.R457T ADPGK_uc002ave.3_Missense_Mutation_p.R182T|ADPGK_uc010ukw.1_Missense_Mutation_p.R399T|ADPGK_uc002avf.3_Missense_Mutation_p.R456T|ADPGK_uc002avi.3_Missense_Mutation_p.R334T|ADPGK_uc002avh.3_Missense_Mutation_p.R218T NM_031284 NP_112574 Q9BRR6 ADPGK_HUMAN ADP-dependent glucokinase 457 ADPK. glycolysis extracellular region ADP-specific glucokinase activity|metal ion binding 0 TATTCCCTCTCTGTGCCATTC 0.493 NA 41 116 0 0 0 0 SNX33 257364 broad.mit.edu 37 15 75942185 75942185 + Missense_Mutation SNP A A G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr15:75942185A>G uc002bau.2 + 1 838 c.742A>G c.(742-744)AGC>GGC p.S248G IMP3_uc002bat.2_5'Flank|SNX33_uc002bav.2_5'UTR NM_153271 NP_695003 Q8WV41 SNX33_HUMAN sorting nexin 33 248 PX. cell communication phosphatidylinositol binding|protein binding ovary(1) 1 GGGCATCAAAAGCTACATCTC 0.547 NA 12 212 0 0 0 0 CHRNB4 1143 broad.mit.edu 37 15 78923490 78923490 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr15:78923490C>T uc002bed.1 - 4 399 c.287G>A c.(286-288)CGC>CAC p.R96H CHRNB4_uc002bee.1_Missense_Mutation_p.R96H|CHRNB4_uc010blh.1_5'UTR NM_000750 NP_000741 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 96 Extracellular (Potential). regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 ACCCTCGTAGCGGGAGCTGTT 0.577 NA 27 72 0 0 0 0 UNC45A 55898 broad.mit.edu 37 15 91479661 91479661 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr15:91479661C>T uc002bqg.2 + 4 737 c.397C>T c.(397-399)CGG>TGG p.R133W UNC45A_uc002bqd.2_Missense_Mutation_p.R118W|UNC45A_uc010uqo.1_Missense_Mutation_p.R125W|UNC45A_uc010uqp.1_RNA|UNC45A_uc010uqq.1_Missense_Mutation_p.R133W NM_018671 NP_061141 Q9H3U1 UN45A_HUMAN smooth muscle cell associated protein-1 isoform 133 cell differentiation|muscle organ development nucleus|perinuclear region of cytoplasm protein binding ovary(2) 2 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) GGAGGCCTTGCGGAACATCGG 0.582 NA 31 36 0 0 0 0 KIAA0556 23247 broad.mit.edu 37 16 27765493 27765493 + Splice_Site SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr16:27765493G>A uc002dow.2 + 18 3577 c.3553_splice c.e18-1 p.I1185_splice NM_015202 NP_056017 O60303 K0556_HUMAN hypothetical protein LOC23247 ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1) 8 CCCATGTGCAGATCCCGGAGC 0.562 NA 31 30 0 0 0 0 CES2 8824 broad.mit.edu 37 16 66975087 66975087 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr16:66975087C>T uc002eqr.2 + 6 2069 c.1069C>T c.(1069-1071)CGG>TGG p.R357W CES2_uc002eqq.2_Missense_Mutation_p.R357W|CES2_uc002eqs.2_Missense_Mutation_p.R200W NM_003869 NP_003860 O00748 EST2_HUMAN carboxylesterase 2 isoform 1 293 catabolic process endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166) GGGCTGCCTGCGGGGCAAGAG 0.572 NA 3 43 0 0 0 0 ELMO3 79767 broad.mit.edu 37 16 67234109 67234109 + Silent SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr16:67234109G>A uc002esa.2 + 5 460 c.417G>A c.(415-417)GAG>GAA p.E139E ELMO3_uc002esb.2_Silent_p.E122E|ELMO3_uc002esc.2_5'UTR NM_024712 NP_078988 Q96BJ8 ELMO3_HUMAN engulfment and cell motility 3 86 apoptosis|phagocytosis cytoplasm|cytoskeleton SH3 domain binding 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417) TTGAGGCTGAGCAGCTCTTGG 0.642 NA 7 7 0 0 0 0 MNT 4335 broad.mit.edu 37 17 2290453 2290453 + Silent SNP G G C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr17:2290453G>C uc002fur.2 - 6 1743 c.1491C>G c.(1489-1491)ACC>ACG p.T497T NM_020310 NP_064706 Q99583 MNT_HUMAN MAX binding protein 497 multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity skin(1) 1 Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05) CATGGTTGAGGGTGGCAGGGT 0.682 NA 7 5 0 0 0 0 ANKFY1 51479 broad.mit.edu 37 17 4098291 4098291 + Missense_Mutation SNP C C T rs147745463 by1000genomes TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr17:4098291C>T uc002fxq.1 - 10 1392 c.1354G>A c.(1354-1356)GCA>ACA p.A452T ANKFY1_uc002fxn.2_Missense_Mutation_p.A494T|ANKFY1_uc002fxo.2_Missense_Mutation_p.A452T|ANKFY1_uc002fxp.2_Missense_Mutation_p.A451T|ANKFY1_uc010ckp.2_Missense_Mutation_p.A393T|ANKFY1_uc002fxr.2_Missense_Mutation_p.A452T NM_016376 NP_057460 Q9P2R3 ANFY1_HUMAN ankyrin repeat and FYVE domain containing 1 452 endosome membrane metal ion binding|protein binding ovary(2)|skin(1) 3 GTGTCAGGTGCGTCTGTGTGG 0.572 NA 14 31 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7577534 7577534 + Missense_Mutation SNP C C A rs28934571 TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr17:7577534C>A uc002gim.2 - 7 941 c.747G>T c.(745-747)AGG>AGT p.R249S TP53_uc002gig.1_Missense_Mutation_p.R249S|TP53_uc002gih.2_Missense_Mutation_p.R249S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R117S|TP53_uc010cng.1_Missense_Mutation_p.R117S|TP53_uc002gii.1_Missense_Mutation_p.R117S|TP53_uc010cnh.1_Missense_Mutation_p.R249S|TP53_uc010cni.1_Missense_Mutation_p.R249S|TP53_uc002gij.2_Missense_Mutation_p.R249S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R156S|TP53_uc002gio.2_Missense_Mutation_p.R117S NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 249 |Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> I (in a sporadic cancer; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (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.R249S(303)|p.R249M(25)|p.R249G(24)|p.R249W(23)|p.R249T(16)|p.R249K(14)|p.0?(7)|p.R249R(6)|p.R249fs*96(6)|p.M246_P250delMNRRP(2)|p.R249fs*14(2)|p.N247_P250delNRRP(1)|p.R249fs*19(1)|p.R249fs*15(1)|p.R249_I251delRPI(1)|p.R249_P250delRP(1)|p.R249_P250insR(1)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.R249_T256delRPILTIIT(1)|p.R249_P250>SS(1)|p.P250fs*14(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) TGAGGATGGGCCTCCGGTTCA 0.572 111 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) 38 19 7.63e-17 9.22e-17 1 0 MYH10 4628 broad.mit.edu 37 17 8383589 8383589 + Missense_Mutation SNP C C A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr17:8383589C>A uc002gll.2 - 38 5439 c.5343G>T c.(5341-5343)CAG>CAT p.Q1781H MYH10_uc002glm.2_Missense_Mutation_p.Q1812H|MYH10_uc010cnx.2_Missense_Mutation_p.Q1790H NM_005964 NP_005955 P35580 MYH10_HUMAN myosin, heavy polypeptide 10, non-muscle 1781 Potential. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity ovary(2) 2 TGTCACTCTTCTGGGCGGCGC 0.592 NA 33 71 1.57e-24 1.93e-24 1 0 FLCN 201163 broad.mit.edu 37 17 17120410 17120410 + Silent SNP G G A rs150752548 TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr17:17120410G>A uc002gra.3 - 10 1653 c.1149C>T c.(1147-1149)CTC>CTT p.L383L PLD6_uc010cpn.2_RNA NM_144997 NP_659434 Q8NFG4 FLCN_HUMAN folliculin isoform 1 383 regulation of protein phosphorylation cytoplasm|nucleus|plasma membrane protein binding thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1) 3 CTGACTGGACGAGGTCCACGT 0.567 NA Birt-Hogg-Dub__syndrome|Familial_Non-VHL_Clear_Cell_Renal_Cancer 12 29 0 0 0 0 PIGS 94005 broad.mit.edu 37 17 26882020 26882020 + Missense_Mutation SNP G G C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr17:26882020G>C uc002hbo.2 - 11 1614 c.1241C>G c.(1240-1242)ACG>AGG p.T414R UNC119_uc002hbk.2_5'Flank|UNC119_uc002hbm.2_5'Flank|PIGS_uc002hbn.2_Missense_Mutation_p.T406R|PIGS_uc010wap.1_Missense_Mutation_p.T353R NM_033198 NP_149975 Q96S52 PIGS_HUMAN phosphatidylinositol glycan anchor biosynthesis, 414 Lumenal (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding breast(2)|urinary_tract(1)|kidney(1) 4 Lung NSC(42;0.00431) CCCTTCACTCGTAGGCCCTGA 0.592 NA 18 25 0 0 0 0 SLC6A4 6532 broad.mit.edu 37 17 28537590 28537590 + Silent SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr17:28537590C>T uc002hey.3 - 11 1936 c.1392G>A c.(1390-1392)CGG>CGA p.R464R SLC6A4_uc010csg.2_RNA NM_001045 NP_001036 P31645 SC6A4_HUMAN solute carrier family 6 member 4 464 Helical; Name=9; (Potential). response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity skin(3)|ovary(1) 4 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) CGAGCACGAACCGCTCCCGGC 0.597 NA 12 48 0 0 0 0 CACNB1 782 broad.mit.edu 37 17 37347836 37347836 + Missense_Mutation SNP T T C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr17:37347836T>C uc002hrm.1 - 3 335 c.182A>G c.(181-183)GAG>GGG p.E61G CACNB1_uc002hrl.1_5'UTR|CACNB1_uc002hrn.2_Missense_Mutation_p.E61G|CACNB1_uc002hro.2_Missense_Mutation_p.E61G|CACNB1_uc002hrp.1_Missense_Mutation_p.E61G|CACNB1_uc010web.1_Missense_Mutation_p.E14G NM_000723 NP_000714 Q02641 CACB1_HUMAN calcium channel, voltage-dependent, beta 1 61 axon guidance voltage-gated calcium channel complex large_intestine(1)|ovary(1) 2 Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661) GGTGTAGGACTCCGCTGAGCC 0.597 NA 11 23 0 0 0 0 GRB7 2886 broad.mit.edu 37 17 37899470 37899470 + Silent SNP G G T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr17:37899470G>T uc002hsr.2 + 5 751 c.501G>T c.(499-501)GTG>GTT p.V167V GRB7_uc002hss.2_Silent_p.V167V|GRB7_uc010cwc.2_Silent_p.V167V|GRB7_uc002hst.2_Silent_p.V167V NM_005310 NP_005301 Q14451 GRB7_HUMAN growth factor receptor-bound protein 7 167 Ras-associating. blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly cytosol|focal adhesion|stress granule phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity lung(2)|ovary(1)|breast(1)|skin(1) 5 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) TGGTGGAAGTGCAGGCTGCCT 0.582 NA 8 82 2.18e-05 2.41e-05 1 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261731 39261731 + Missense_Mutation SNP G G C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr17:39261731G>C uc010wfp.1 + 1 91 c.91G>C c.(91-93)GAG>CAG p.E31Q NM_001146041 NP_001139513 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 31 2.|29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP]. keratin filament 0 CAGCTGCTGTGAGACCACCTG 0.637 NA 4 37 0 0 0 0 KLHL10 317719 broad.mit.edu 37 17 39994252 39994252 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr17:39994252C>T uc010cxr.2 + 1 210 c.68C>T c.(67-69)GCG>GTG p.A23V NT5C3L_uc010wfu.1_5'Flank|NT5C3L_uc002hyb.3_5'Flank|NT5C3L_uc002hyc.3_5'Flank|NT5C3L_uc002hyd.3_5'Flank|NT5C3L_uc002hxy.3_5'Flank|NT5C3L_uc002hxz.3_5'Flank|NT5C3L_uc002hya.3_5'Flank|KLHL10_uc010wfv.1_Missense_Mutation_p.A23V|KLHL10_uc010wfw.1_5'UTR NM_152467 NP_689680 Q6JEL2 KLH10_HUMAN kelch-like 10 23 cytoplasm ovary(1)|lung(1)|breast(1)|central_nervous_system(1) 4 Breast(137;0.000162) AAGATGAGTGCGATGGCCTGT 0.562 NA 38 73 0 0 0 0 HELZ 9931 broad.mit.edu 37 17 65186378 65186378 + Silent SNP T T G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr17:65186378T>G uc010wqk.1 - 10 838 c.651A>C c.(649-651)TCA>TCC p.S217S HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Silent_p.S217S NM_014877 NP_055692 helicase with zinc finger domain ovary(1)|pancreas(1) 2 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) TTATCAGCCGTGAAGCATATC 0.393 NA 12 50 0 0 0 0 OTOP2 92736 broad.mit.edu 37 17 72929559 72929559 + Silent SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr17:72929559C>T uc010wrp.1 + 8 1697 c.1608C>T c.(1606-1608)ATC>ATT p.I536I OTOP3_uc010wrq.1_5'Flank|OTOP3_uc010wrr.1_5'Flank NM_178160 NP_835454 Q7RTS6 OTOP2_HUMAN otopetrin 2 536 Helical; (Potential). integral to membrane ovary(3)|large_intestine(1) 4 all_lung(278;0.172)|Lung NSC(278;0.207) GGGCGGTCATCGTCAACATCT 0.592 NA 15 77 0 0 0 0 ZNF750 79755 broad.mit.edu 37 17 80790003 80790003 + Missense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr17:80790003C>G uc002kga.2 - 2 639 c.328G>C c.(328-330)GAC>CAC p.D110H TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron NM_024702 NP_078978 Q32MQ0 ZN750_HUMAN zinc finger protein 750 110 intracellular zinc ion binding central_nervous_system(1) 1 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) TCCTTGATGTCTTCCCTGGCA 0.612 NA 9 55 0 0 0 0 ZNF521 25925 broad.mit.edu 37 18 22806653 22806653 + Missense_Mutation SNP C C A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr18:22806653C>A uc002kvk.2 - 4 1476 c.1229G>T c.(1228-1230)TGC>TTC p.C410F ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.C410F|ZNF521_uc002kvl.2_Missense_Mutation_p.C190F NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 410 C2H2-type 9; degenerate. cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TTGTTTGTTGCAGTAAATACA 0.438 NA T PAX5 ALL 27 44 6.33e-13 7.49e-13 1 0 CDH2 1000 broad.mit.edu 37 18 25589801 25589801 + Silent SNP C C A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr18:25589801C>A uc002kwg.2 - 5 1041 c.582G>T c.(580-582)CGG>CGT p.R194R CDH2_uc010xbn.1_Silent_p.R163R NM_001792 NP_001783 P19022 CADH2_HUMAN cadherin 2, type 1 preproprotein 194 Cadherin 1.|Extracellular (Potential). adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding ovary(3)|lung(1) 4 TTACACTGTACCGCAGTGAAA 0.483 NA 28 44 1.77e-15 2.12e-15 1 0 KLHL14 57565 broad.mit.edu 37 18 30350122 30350122 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr18:30350122C>T uc002kxm.1 - 2 821 c.433G>A c.(433-435)GCC>ACC p.A145T NM_020805 NP_065856 Q9P2G3 KLH14_HUMAN kelch-like 14 145 BTB. cytosol|endoplasmic reticulum membrane ovary(1) 1 GTCACGTTGGCCGTGTAGAGG 0.637 NA 38 130 0 0 0 0 CHAF1A 10036 broad.mit.edu 37 19 4432045 4432045 + Nonsense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr19:4432045C>T uc002mal.2 + 12 2144 c.2044C>T c.(2044-2046)CAA>TAA p.Q682* NM_005483 NP_005474 Q13111 CAF1A_HUMAN chromatin assembly factor 1, subunit A (p150) 682 Binds to p60. cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|WINAC complex chromatin binding|chromo shadow domain binding|unfolded protein binding ovary(1)|skin(1) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) TCGCGTCCTGCAACCTGTGAA 0.602 NA Chromatin_Structure 25 56 0 0 0 0 OR7E24 26648 broad.mit.edu 37 19 9361989 9361989 + Silent SNP T T G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr19:9361989T>G uc002mlb.1 + 1 270 c.270T>G c.(268-270)GGT>GGG p.G90G NM_001079935 NP_001073404 Q6IFN5 O7E24_HUMAN olfactory receptor, family 7, subfamily E, 90 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 CTGACATCGGTTTCACCTCCA 0.532 NA 23 27 0 0 0 0 ICAM3 3385 broad.mit.edu 37 19 10446518 10446518 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr19:10446518C>T uc002mob.2 - 3 533 c.478G>A c.(478-480)GAG>AAG p.E160K RAVER1_uc002moa.2_5'Flank|ICAM3_uc010dxd.1_Missense_Mutation_p.E83K|ICAM3_uc010xlf.1_Missense_Mutation_p.E83K NM_002162 NP_002153 P32942 ICAM3_HUMAN intercellular adhesion molecule 3 precursor 160 Extracellular (Potential).|Ig-like C2-type 2. cell-cell adhesion|regulation of immune response integral to plasma membrane integrin binding upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05) CGGCTCAGCTCCTCCTCCCAG 0.677 NA 3 10 0 0 0 0 PGLYRP2 114770 broad.mit.edu 37 19 15587132 15587132 + Missense_Mutation SNP A A T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr19:15587132A>T uc002nbf.3 - 2 482 c.349T>A c.(349-351)TCG>ACG p.S117T PGLYRP2_uc002nbg.3_Missense_Mutation_p.S117T NM_052890 NP_443122 Q96PD5 PGRP2_HUMAN peptidoglycan recognition protein 2 precursor 117 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding ovary(3) 3 GCCACGGTCGAGCCATCAGGT 0.627 NA 43 68 0 0 0 0 DDX49 54555 broad.mit.edu 37 19 19035702 19035702 + Missense_Mutation SNP T T A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr19:19035702T>A uc002nkq.1 + 9 998 c.941T>A c.(940-942)ATC>AAC p.I314N HOMER3_uc002nko.1_Intron|HOMER3_uc002nkp.1_Intron|DDX49_uc002nkr.1_RNA|DDX49_uc002nks.1_Missense_Mutation_p.I207N|DDX49_uc002nkt.1_3'UTR NM_019070 NP_061943 Q9Y6V7 DDX49_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 49 314 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 Epithelial(12;0.0289) GGCCTGGACATCCCTACGGTA 0.637 NA 23 27 0 0 0 0 HAPLN4 404037 broad.mit.edu 37 19 19369367 19369367 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr19:19369367C>T uc002nmb.2 - 4 837 c.782G>A c.(781-783)CGC>CAC p.R261H HAPLN4_uc002nmc.2_Missense_Mutation_p.R261H NM_023002 NP_075378 Q86UW8 HPLN4_HUMAN hyaluronan and proteoglycan link protein 4 261 Link 1. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding pancreas(1) 1 Epithelial(12;0.00575) GGCGTCGTAGCGTTCCTCGGC 0.687 NA 20 24 0 0 0 0 ZNF737 100129842 broad.mit.edu 37 19 20728176 20728176 + Missense_Mutation SNP A A T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr19:20728176A>T uc002npa.2 - 4 1013 c.833T>A c.(832-834)ATT>AAT p.I278N NM_001159293 NP_001152765 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 278 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding ovary(1) 1 TCCAGTATGAATTATCTTATG 0.408 NA 14 18 0 0 0 0 ZNF573 126231 broad.mit.edu 37 19 38262306 38262306 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr19:38262306C>T uc002ohe.2 - 2 122 c.100G>A c.(100-102)GCC>ACC p.A34T ZNF573_uc010efs.2_5'UTR|ZNF573_uc002ohd.2_Missense_Mutation_p.A32T|ZNF573_uc002ohf.2_5'UTR|ZNF573_uc002ohg.2_5'UTR NM_152360 NP_689573 Q86YE8 ZN573_HUMAN zinc finger protein 573 14 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146) AAGTCTATGGCCACATCCCTG 0.408 NA 6 22 0 0 0 0 FUT2 2524 broad.mit.edu 37 19 49206855 49206855 + Missense_Mutation SNP G G C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr19:49206855G>C uc002pke.3 + 2 753 c.642G>C c.(640-642)AAG>AAC p.K214N FUT2_uc010emc.2_Missense_Mutation_p.K214N NM_001097638 NP_001091107 Q10981 FUT2_HUMAN fucosyltransferase 2 214 Lumenal (Potential). L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane galactoside 2-alpha-L-fucosyltransferase activity central_nervous_system(1) 1 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017) AAGTGTGGAAGGGGGTGGTGG 0.627 NA 34 54 0 0 0 0 BRSK1 84446 broad.mit.edu 37 19 55805723 55805723 + Silent SNP A A C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr19:55805723A>C uc002qkg.2 + 7 913 c.636A>C c.(634-636)GCA>GCC p.A212A BRSK1_uc002qkf.2_Silent_p.A228A NM_032430 NP_115806 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 212 Protein kinase. establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1) 6 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) GCCGCCGGGCAGACATGTGGA 0.587 NA 10 24 0 0 0 0 ZRANB3 84083 broad.mit.edu 37 2 135988170 135988170 + Missense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr2:135988170C>G uc002tum.2 - 13 1984 c.1867G>C c.(1867-1869)GAG>CAG p.E623Q ZRANB3_uc002tuk.2_Missense_Mutation_p.E166Q|ZRANB3_uc002tul.2_Missense_Mutation_p.E623Q NM_032143 NP_115519 Q5FWF4 ZRAB3_HUMAN zinc finger, RAN-binding domain containing 3 623 RanBP2-type. intracellular ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding lung(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.135) TGCCAGCCCTCTACAGGAAAG 0.488 NA 21 35 0 0 0 0 THSD7B 80731 broad.mit.edu 37 2 137814502 137814502 + Missense_Mutation SNP C C A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr2:137814502C>A uc002tva.1 + 2 559 c.559C>A c.(559-561)CCA>ACA p.P187T THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_Missense_Mutation_p.P77T NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) TTTGCAATGTCCAAATCTGAC 0.478 NA 58 136 1.22e-34 1.5e-34 1 0 KIF5C 3800 broad.mit.edu 37 2 149847689 149847689 + Missense_Mutation SNP G G T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr2:149847689G>T uc010zbu.1 + 16 2250 c.1882G>T c.(1882-1884)GCC>TCC p.A628S KIF5C_uc002tws.1_RNA|KIF5C_uc002twt.2_Missense_Mutation_p.A180S NM_004522 NP_004513 O60282 KIF5C_HUMAN kinesin family member 5C 628 microtubule-based movement|organelle organization cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.108) GGAGCTGGCAGCCTGCCAGCT 0.587 NA 6 16 3.6e-05 3.97e-05 1 0 KCNH7 90134 broad.mit.edu 37 2 163374317 163374317 + Missense_Mutation SNP C C A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr2:163374317C>A uc002uch.1 - 4 1027 c.815G>T c.(814-816)AGA>ATA p.R272I KCNH7_uc002uci.2_Missense_Mutation_p.R272I NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H, 272 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity ovary(3)|skin(2) 5 Ibutilide(DB00308) CGAAGATGCTCTCCGTATACT 0.458 NA 5 53 5.94e-07 6.68e-07 1 0 LRP2 4036 broad.mit.edu 37 2 169989168 169989168 + Silent SNP A A G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr2:169989168A>G uc002ues.2 - 77 13857 c.13644T>C c.(13642-13644)GAT>GAC p.D4548D NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 4548 Cytoplasmic (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) AATTCTTATTATCCACATTTT 0.383 NA 25 52 0 0 0 0 ZNF804A 91752 broad.mit.edu 37 2 185731223 185731223 + Missense_Mutation SNP A A G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr2:185731223A>G uc002uph.2 + 2 833 c.239A>G c.(238-240)GAC>GGC p.D80G NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 80 C2H2-type. intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 AATTCATATGACCATGCTCAC 0.358 NA 15 74 0 0 0 0 SLC40A1 30061 broad.mit.edu 37 2 190428622 190428622 + Missense_Mutation SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr2:190428622G>A uc002uqp.3 - 7 1441 c.1090C>T c.(1090-1092)CGT>TGT p.R364C NM_014585 NP_055400 Q9NP59 S40A1_HUMAN solute carrier family 40 (iron-regulated 364 anatomical structure morphogenesis|cellular iron ion homeostasis cytoplasm|integral to plasma membrane iron ion transmembrane transporter activity|protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491) CATTTTCGACGTAGCCAAGTA 0.468 NA 18 111 0 0 0 0 CUL3 8452 broad.mit.edu 37 2 225368470 225368470 + Missense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr2:225368470C>G uc002vny.2 - 9 1660 c.1276G>C c.(1276-1278)GAT>CAT p.D426H CUL3_uc010zls.1_Missense_Mutation_p.D360H|CUL3_uc010fwy.1_Missense_Mutation_p.D432H NM_003590 NP_003581 Q13618 CUL3_HUMAN cullin 3 426 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1) 4 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) TCAAATACATCTTTTTCTTGC 0.294 NA 7 4 0 0 0 0 JAG1 182 broad.mit.edu 37 20 10620273 10620273 + Missense_Mutation SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr20:10620273G>A uc002wnw.2 - 26 4046 c.3530C>T c.(3529-3531)ACG>ATG p.T1177M NM_000214 NP_000205 P78504 JAG1_HUMAN jagged 1 precursor 1177 Cytoplasmic (Potential). angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1) 9 GTCTACCAGCGTGTACGCCGG 0.507 NA Alagille_Syndrome 82 41 0 0 0 0 BTBD3 22903 broad.mit.edu 37 20 11903683 11903683 + Missense_Mutation SNP T T A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr20:11903683T>A uc002wnz.2 + 4 1297 c.938T>A c.(937-939)CTA>CAA p.L313Q BTBD3_uc002wny.2_Missense_Mutation_p.L252Q|BTBD3_uc002woa.2_Missense_Mutation_p.L252Q|BTBD3_uc010zrf.1_Missense_Mutation_p.L162Q|BTBD3_uc010zrg.1_Missense_Mutation_p.L162Q|BTBD3_uc010zrh.1_Missense_Mutation_p.L162Q NM_014962 NP_055777 Q9Y2F9 BTBD3_HUMAN BTB/POZ domain containing protein 3 isoform a 313 ovary(2)|central_nervous_system(1) 3 CGCAAGGTTCTAGGAAAGGCA 0.463 NA 37 37 0 0 0 0 CST9L 128821 broad.mit.edu 37 20 23545618 23545618 + Silent SNP G G C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr20:23545618G>C uc002wtk.3 - 3 710 c.411C>G c.(409-411)CTC>CTG p.L137L NM_080610 NP_542177 Q9H4G1 CST9L_HUMAN cystatin 9-like precursor 137 extracellular region cysteine-type endopeptidase inhibitor activity 0 Colorectal(13;0.0431)|Lung NSC(19;0.235) TCTTGTTCAGGAGGCTGAACT 0.552 NA 21 19 0 0 0 0 CEP250 11190 broad.mit.edu 37 20 34090746 34090746 + Silent SNP C C A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr20:34090746C>A uc002xcm.2 + 31 5220 c.4549C>A c.(4549-4551)CGG>AGG p.R1517R CEP250_uc010zve.1_Silent_p.R885R NM_007186 NP_009117 Q9BV73 CP250_HUMAN centrosomal protein 2 1517 Gln/Glu-rich.|Potential. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding ovary(4)|central_nervous_system(1) 5 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) CGAGAAGGATCGGGAGACTCA 0.512 NA 14 16 0.000151284 0.000164422 1 0 SYNJ1 8867 broad.mit.edu 37 21 34099218 34099218 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr21:34099218C>T uc002yqh.2 - 2 106 c.106G>A c.(106-108)GAA>AAA p.E36K SYNJ1_uc011ads.1_5'UTR|SYNJ1_uc002yqf.2_5'UTR|SYNJ1_uc002yqg.2_5'UTR|SYNJ1_uc002yqi.2_Missense_Mutation_p.E36K|uc002yqj.1_5'Flank|uc002yqk.2_5'Flank NM_003895 NP_003886 O43426 SYNJ1_HUMAN synaptojanin 1 isoform a Error:Variant_position_missing_in_O43426_after_alignment inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding ovary(4)|skin(1) 5 CTCCTTTCTTCGGAGGCAGCC 0.488 NA 24 46 0 0 0 0 RIPK4 54101 broad.mit.edu 37 21 43166824 43166824 + Missense_Mutation SNP G G A rs67846875 TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr21:43166824G>A uc002yzn.1 - 5 829 c.781C>T c.(781-783)CTC>TTC p.L261F NM_020639 NP_065690 P57078 RIPK4_HUMAN ankyrin repeat domain 3 261 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1) 7 CGCTGCATGAGGCGTATCAGG 0.672 NA 22 42 0 0 0 0 PCNT 5116 broad.mit.edu 37 21 47841931 47841931 + Missense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr21:47841931C>G uc002zji.3 + 32 7179 c.7072C>G c.(7072-7074)CCT>GCT p.P2358A PCNT_uc002zjj.2_Missense_Mutation_p.P2240A NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 2358 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) GTCAGGAGGCCCTGAGGCTCA 0.612 NA 22 49 0 0 0 0 MYH9 4627 broad.mit.edu 37 22 36701124 36701124 + Silent SNP G G T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr22:36701124G>T uc003apg.2 - 18 2415 c.2184C>A c.(2182-2184)TCC>TCA p.S728S MYH9_uc003aph.1_Silent_p.S592S NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 728 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 CCTTGGGAATGGAGTTTGGAG 0.537 NA T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated 20 45 2.38e-13 2.82e-13 1 0 NDUFA6 4700 broad.mit.edu 37 22 42482286 42482286 + Silent SNP T T C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr22:42482286T>C uc003bcb.2 - 3 428 c.366A>G c.(364-366)GTA>GTG p.V122V NM_002490 NP_002481 P56556 NDUA6_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha 122 mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity 0 NADH(DB00157) GCTGCTTCCATACTTTAATTG 0.383 NA 28 59 0 0 0 0 CYP8B1 1582 broad.mit.edu 37 3 42917176 42917176 + Missense_Mutation SNP G G T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr3:42917176G>T uc003cmh.2 - 1 458 c.133C>A c.(133-135)CAT>AAT p.H45N CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Missense_Mutation_p.H45N NM_004391 NP_004382 Q9UNU6 CP8B1_HUMAN cytochrome P450, family 8, subfamily B, 45 bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome 7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249) GCCATGGCATGGCCAAGCCAG 0.577 NA 28 25 7.26e-15 8.67e-15 1 0 CELSR3 1951 broad.mit.edu 37 3 48694603 48694603 + Silent SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr3:48694603G>A uc003cul.2 - 2 4208 c.3927C>T c.(3925-3927)GAC>GAT p.D1309D CELSR3_uc003cuf.1_Silent_p.D1379D NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 1309 Extracellular (Potential). homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) AGATGAAGACGTCCTCAGCGG 0.657 NA 9 14 0 0 0 0 FILIP1L 11259 broad.mit.edu 37 3 99569270 99569270 + Missense_Mutation SNP A A C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr3:99569270A>C uc003dtm.2 - 5 1713 c.1250T>G c.(1249-1251)GTT>GGT p.V417G C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Missense_Mutation_p.V417G|FILIP1L_uc010hpf.2_5'UTR|FILIP1L_uc010hpg.2_Missense_Mutation_p.V177G|FILIP1L_uc003dtn.2_Missense_Mutation_p.V177G|FILIP1L_uc003dtp.1_Missense_Mutation_p.V177G NM_182909 NP_878913 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like isoform 1 417 Potential. cytoplasm|membrane|myosin complex|nucleus ovary(1) 1 GAGTTTTTCAACCTCTAGTTT 0.368 NA 45 46 0 0 0 0 RG9MTD1 54931 broad.mit.edu 37 3 101283915 101283915 + Missense_Mutation SNP T T G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr3:101283915T>G uc003duz.2 + 2 438 c.290T>G c.(289-291)TTC>TGC p.F97C NM_017819 NP_060289 Q7L0Y3 MRRP1_HUMAN RNA (guanine-9-) methyltransferase domain 97 tRNA processing mitochondrion methyltransferase activity|protein binding ovary(1) 1 ACCAGAGAGTTCATTGAGATG 0.403 NA 14 60 0 0 0 0 SNX4 8723 broad.mit.edu 37 3 125172710 125172710 + Silent SNP T T C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr3:125172710T>C uc003eib.2 - 12 1176 c.1134A>G c.(1132-1134)CTA>CTG p.L378L SNX4_uc011bkf.1_Silent_p.L233L NM_003794 NP_003785 O95219 SNX4_HUMAN sorting nexin 4 378 cell communication|endocytic recycling|endocytosis|protein transport cytoplasmic dynein complex|early endosome membrane phosphatidylinositol binding|protein binding breast(2)|ovary(1)|central_nervous_system(1) 4 TTTGTTCTTCTAGCACCTTTA 0.393 NA 20 46 0 0 0 0 COL6A6 131873 broad.mit.edu 37 3 130283910 130283910 + Missense_Mutation SNP T T C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr3:130283910T>C uc010htl.2 + 3 765 c.734T>C c.(733-735)TTT>TCT p.F245S NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 245 Nonhelical region.|VWFA 2. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 GAGGAGAACTTTGACTATCTT 0.418 NA 43 83 0 0 0 0 IL20RB 53833 broad.mit.edu 37 3 136708366 136708366 + Missense_Mutation SNP G G C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr3:136708366G>C uc003eri.1 + 4 739 c.490G>C c.(490-492)GAG>CAG p.E164Q IL20RB_uc003erj.1_RNA|IL20RB_uc010hud.1_Missense_Mutation_p.E22Q NM_144717 NP_653318 Q6UXL0 I20RB_HUMAN interleukin 20 receptor beta precursor 164 Extracellular (Potential).|Fibronectin type-III 2. integral to membrane receptor activity ovary(1) 1 GCCCCAGTTTGAGTTCCTTGT 0.567 NA 12 39 0 0 0 0 COPB2 9276 broad.mit.edu 37 3 139092255 139092255 + Splice_Site SNP C C A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr3:139092255C>A uc003etf.3 - 9 1025 c.895_splice c.e9-1 p.L299_splice COPB2_uc011bmv.1_Splice_Site_p.L270_splice|COPB2_uc010hui.2_Splice_Site_p.L270_splice NM_004766 NP_004757 P35606 COPB2_HUMAN coatomer protein complex, subunit beta 2 (beta COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity ovary(2) 2 CCCGACCAAGCTGAAAGAAAG 0.408 NA 9 29 3.1e-07 3.51e-07 1 0 SGEF 26084 broad.mit.edu 37 3 153840472 153840472 + Missense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr3:153840472C>G uc011bog.1 + 2 902 c.691C>G c.(691-693)CCT>GCT p.P231A uc003ezu.1_5'Flank|SGEF_uc011boh.1_Missense_Mutation_p.P231A NM_015595 NP_056410 Q96DR7 ARHGQ_HUMAN Src homology 3 domain-containing guanine 231 regulation of Rho protein signal transduction intracellular|ruffle Rho guanyl-nucleotide exchange factor activity large_intestine(1) 1 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) CCTCGAGAATCCTTCCGTGGT 0.542 NA 12 16 0 0 0 0 SLC33A1 9197 broad.mit.edu 37 3 155551699 155551699 + Silent SNP T T C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr3:155551699T>C uc003fan.3 - 3 1476 c.1095A>G c.(1093-1095)AAA>AAG p.K365K SLC33A1_uc003fao.1_Silent_p.K365K NM_004733 NP_004724 O00400 ACATN_HUMAN acetyl-coenzyme A transporter 365 Cytoplasmic (Potential). cell death|transmembrane transport endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction acetyl-CoA transporter activity ovary(2)|large_intestine(1)|pancreas(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) CTGCAGTGTATTTGCTGATAA 0.388 NA 16 38 0 0 0 0 GOLIM4 27333 broad.mit.edu 37 3 167747722 167747722 + Missense_Mutation SNP G G C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr3:167747722G>C uc003ffe.2 - 10 1623 c.1279C>G c.(1279-1281)CTG>GTG p.L427V GOLIM4_uc011bpe.1_Missense_Mutation_p.L427V|GOLIM4_uc011bpf.1_Missense_Mutation_p.L399V|GOLIM4_uc011bpg.1_Missense_Mutation_p.L399V NM_014498 NP_055313 O00461 GOLI4_HUMAN golgi integral membrane protein 4 427 Glu-rich.|Gln-rich.|Lumenal (Potential). transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(4)|skin(1) 5 tgttcccgcagctgctgGGCC 0.308 NA 30 112 0 0 0 0 KLHL24 54800 broad.mit.edu 37 3 183369021 183369021 + Missense_Mutation SNP A A G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr3:183369021A>G uc003flv.2 + 3 1172 c.877A>G c.(877-879)ATA>GTA p.I293V KLHL24_uc003flw.2_Missense_Mutation_p.I293V|KLHL24_uc003flx.2_Missense_Mutation_p.I293V NM_017644 NP_060114 Q6TFL4 KLH24_HUMAN DRE1 protein 293 axon|cytoplasm|perikaryon ovary(1) 1 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) ACGGTACCACATACTTGGGAA 0.388 NA 13 48 0 0 0 0 TBCK 93627 broad.mit.edu 37 4 107165855 107165855 + Missense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr4:107165855C>G uc010ilv.2 - 11 1363 c.998G>C c.(997-999)GGA>GCA p.G333A TBCK_uc003hyb.2_Missense_Mutation_p.G76A|TBCK_uc003hye.2_Missense_Mutation_p.G294A|TBCK_uc003hyc.2_Missense_Mutation_p.G270A|TBCK_uc003hyd.2_Missense_Mutation_p.G161A|TBCK_uc003hyf.2_Missense_Mutation_p.G333A NM_001163435 NP_001156907 Q8TEA7 TBCK_HUMAN TBC domain-containing protein kinase-like 333 intracellular Rab GTPase activator activity large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1) 5 CAAGTCACCTCCAGCCAAACA 0.363 NA 18 12 0 0 0 0 PRSS48 345062 broad.mit.edu 37 4 152201007 152201007 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr4:152201007C>T uc011cif.1 + 2 112 c.112C>T c.(112-114)CGC>TGC p.R38C PRSS48_uc011cig.1_Intron NM_183375 NP_899231 Q7RTY5 PRS48_HUMAN epidermis-specific serine protease-like protein 38 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity large_intestine(1) 1 TGCTGCAGGGCGCTGGCCTTG 0.527 NA 28 30 0 0 0 0 FGA 2243 broad.mit.edu 37 4 155510666 155510666 + Missense_Mutation SNP G G A rs121909606 TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr4:155510666G>A uc003iod.1 - 2 161 c.103C>T c.(103-105)CGT>TGT p.R35C FGA_uc003ioe.1_Missense_Mutation_p.R35C|FGA_uc003iof.1_Missense_Mutation_p.R35C NM_000508 NP_000499 P02671 FIBA_HUMAN fibrinogen, alpha polypeptide isoform alpha-E 35 Cleavage; by thrombin; to release fibrinopeptide A. R -> C.|R -> H. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding ovary(2)|breast(1) 3 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) CTTGGGCCACGCACGCCTCCT 0.493 NA 42 19 0 0 0 0 KIAA0947 23379 broad.mit.edu 37 5 5461761 5461761 + Missense_Mutation SNP A A G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr5:5461761A>G uc003jdm.3 + 13 2536 c.2314A>G c.(2314-2316)ATA>GTA p.I772V NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 772 ovary(1)|central_nervous_system(1) 2 CACATCATTAATAGGTTCTCA 0.388 NA 9 22 0 0 0 0 SLC27A6 28965 broad.mit.edu 37 5 128324299 128324299 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr5:128324299C>T uc003kuy.2 + 4 1088 c.692C>T c.(691-693)CCA>CTA p.P231L SLC27A6_uc003kuz.2_Missense_Mutation_p.P231L NM_014031 NP_054750 Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid 231 AMP (Potential). P -> S (in Ref. 3; CAG33410). long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding 0 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) CCAGGTCTACCAAAAGCAGCT 0.318 NA 30 32 0 0 0 0 WNT8A 7478 broad.mit.edu 37 5 137426396 137426396 + Silent SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr5:137426396C>T uc003lcd.1 + 6 695 c.690C>T c.(688-690)AGC>AGT p.S230S BRD8_uc003lcc.1_Intron|WNT8A_uc011cyj.1_Silent_p.S248S|WNT8A_uc011cyk.1_Silent_p.S248S NM_058244 NP_490645 Q9H1J5 WNT8A_HUMAN wingless-type MMTV integration site family, 230 brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled binding|signal transducer activity ovary(1)|lung(1)|breast(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) CTGGGAACAGCGCCGAGGGCC 0.542 NA 19 28 0 0 0 0 PCDHA2 56146 broad.mit.edu 37 5 140175998 140175998 + Missense_Mutation SNP C C A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr5:140175998C>A uc003lhd.2 + 1 1555 c.1449C>A c.(1447-1449)GAC>GAA p.D483E PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.D483E|PCDHA2_uc011czy.1_Missense_Mutation_p.D483E NM_018905 NP_061728 Q9Y5H9 PCDA2_HUMAN protocadherin alpha 2 isoform 1 precursor 483 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGATGCGGACGCGCAGGAGA 0.657 NA 38 82 7.05e-23 8.59e-23 1 0 PCDHA3 56145 broad.mit.edu 37 5 140182672 140182672 + Missense_Mutation SNP G G T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr5:140182672G>T uc003lhf.2 + 1 1890 c.1890G>T c.(1888-1890)GAG>GAT p.E630D PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.E630D NM_018906 NP_061729 Q9Y5H8 PCDA3_HUMAN protocadherin alpha 3 isoform 1 precursor 630 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(6)|skin(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACACGGGAGAGATCAGCACGA 0.657 NA 22 56 2.89e-11 3.4e-11 1 0 PCDHGB3 56102 broad.mit.edu 37 5 140750142 140750142 + Missense_Mutation SNP T T G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr5:140750142T>G uc003ljw.1 + 1 181 c.181T>G c.(181-183)TTA>GTA p.L61V PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc011dat.1_Missense_Mutation_p.L61V NM_018924 NP_061747 Q9Y5G1 PCDGF_HUMAN protocadherin gamma subfamily B, 3 isoform 1 61 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTGGGGGATTTACCTACTAG 0.557 NA 6 142 0 0 0 0 PCDHGB5 56101 broad.mit.edu 37 5 140779261 140779261 + Missense_Mutation SNP A A T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr5:140779261A>T uc003lkf.1 + 1 1567 c.1567A>T c.(1567-1569)ACC>TCC p.T523S PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.T523S NM_018925 NP_061748 Q9Y5G0 PCDGH_HUMAN protocadherin gamma subfamily B, 5 isoform 1 523 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAGCTGCGCACCTTCGAACT 0.647 NA 10 24 0 0 0 0 GLRA1 2741 broad.mit.edu 37 5 151202317 151202317 + Missense_Mutation SNP A A C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr5:151202317A>C uc003lut.2 - 9 1578 c.1291T>G c.(1291-1293)TTC>GTC p.F431V GLRA1_uc003lur.2_Missense_Mutation_p.F423V|GLRA1_uc003lus.2_Missense_Mutation_p.F340V NM_001146040 NP_001139512 P23415 GLRA1_HUMAN glycine receptor, alpha 1 isoform 1 precursor 431 Helical; (Probable). muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity ovary(1)|central_nervous_system(1) 2 all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GCCATGGGGAAGCCAATGCGG 0.507 NA 26 42 0 0 0 0 MICB 4277 broad.mit.edu 37 6 31473459 31473459 + Missense_Mutation SNP C C A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr6:31473459C>A uc003ntn.3 + 2 252 c.136C>A c.(136-138)CTC>ATC p.L46I MICB_uc011dnm.1_Missense_Mutation_p.L14I|MICB_uc003nto.3_Missense_Mutation_p.L46I NM_005931 NP_005922 Q29980 MICB_HUMAN MHC class I polypeptide-related sequence B 46 Extracellular (Potential). antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid integral to plasma membrane|MHC class I protein complex natural killer cell lectin-like receptor binding 0 GTCAGGGTTTCTCGCTGAGGG 0.562 NA 27 19 2.44e-19 2.96e-19 1 0 CYP21A2 1589 broad.mit.edu 37 6 31974427 31974427 + Missense_Mutation SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr6:31974427G>A uc010jtp.2 + 5 596 c.478G>A c.(478-480)GCC>ACC p.A160T CYP21A2_uc011dpb.1_Missense_Mutation_p.A130T P08686 CP21A_HUMAN SubName: Full=Cytochrome P450, family 21, subfamily A, polypeptide 2; SubName: Full=Cytochrome P450 21-hydroxylase; SubName: Full=Cytochrome P450, family 21, subfamily A, polypeptide 2, isoform CRA_b; SubName: Full=DJ34F7.3 (Cytochrome P450, subfamily XXIA (Steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2 (CYP21, P450c21B)); SubName: Full=cDNA, FLJ95495, Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2(CYP21A2), mRNA; 159 glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding 0 CACCCCTGTGGCCATTGAGGA 0.627 NA 11 11 0 0 0 0 UBR2 23304 broad.mit.edu 37 6 42603184 42603184 + Missense_Mutation SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr6:42603184G>A uc011dur.1 + 14 1574 c.1574G>A c.(1573-1575)GGA>GAA p.G525E UBR2_uc011dus.1_Missense_Mutation_p.G170E|UBR2_uc010jxv.1_Missense_Mutation_p.G29E|UBR2_uc003osh.2_RNA NM_015255 NP_056070 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 525 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding ovary(3)|pancreas(1) 4 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) CGTCAAGTAGGACAACATATT 0.348 NA 16 10 0 0 0 0 GPR115 221393 broad.mit.edu 37 6 47682615 47682615 + Missense_Mutation SNP G G C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr6:47682615G>C uc003oza.1 + 6 1892 c.1634G>C c.(1633-1635)AGA>ACA p.R545T GPR115_uc003oyz.1_Missense_Mutation_p.R602T|GPR115_uc003ozb.1_Missense_Mutation_p.R543T NM_153838 NP_722580 Q8IZF3 GP115_HUMAN G-protein coupled receptor 115 precursor 545 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1) 8 GGCTACATGAGACCTGAGGCC 0.483 NA 40 166 0 0 0 0 DST 667 broad.mit.edu 37 6 56716396 56716396 + Missense_Mutation SNP C C A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr6:56716396C>A uc003pdf.2 - 4 452 c.424G>T c.(424-426)GGG>TGG p.G142W DST_uc011dxj.1_5'UTR|DST_uc011dxk.1_Missense_Mutation_p.G4W|DST_uc011dxl.1_5'UTR NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 Error:Variant_position_missing_in_Q03001_after_alignment cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) GACGCGTTCCCGGAACTCTAC 0.502 NA OREG0017515 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 14 3.86e-05 4.25e-05 1 0 COL12A1 1303 broad.mit.edu 37 6 75851809 75851809 + Silent SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr6:75851809G>A uc003phs.2 - 27 5062 c.4896C>T c.(4894-4896)GTC>GTT p.V1632V COL12A1_uc003pht.2_Silent_p.V468V NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 1632 Fibronectin type-III 11. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 CAGAAACGCTGACTGTGTACA 0.493 NA 47 61 0 0 0 0 LAMA4 3910 broad.mit.edu 37 6 112493962 112493962 + Missense_Mutation SNP G G C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr6:112493962G>C uc003pvu.2 - 12 1711 c.1402C>G c.(1402-1404)CGC>GGC p.R468G LAMA4_uc003pvv.2_Missense_Mutation_p.R461G|LAMA4_uc003pvt.2_Missense_Mutation_p.R461G NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 468 Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) AACAGAGTGCGGGTCTCATTG 0.527 NA 4 29 0 0 0 0 GJA1 2697 broad.mit.edu 37 6 121768632 121768632 + Missense_Mutation SNP G G T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr6:121768632G>T uc003pyr.2 + 2 889 c.639G>T c.(637-639)ATG>ATT p.M213I GJA1_uc011ebo.1_Missense_Mutation_p.M114I|GJA1_uc011ebp.1_Missense_Mutation_p.M1I NM_000165 NP_000156 P17302 CXA1_HUMAN connexin 43 213 Helical; (Potential). cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft ion transmembrane transporter activity|signal transducer activity ovary(2) 2 GBM - Glioblastoma multiforme(226;0.00252) Carvedilol(DB01136) TCATCTTCATGCTGGTGGTGT 0.488 NA 47 78 2.28e-18 2.76e-18 1 0 ZMIZ2 83637 broad.mit.edu 37 7 44801094 44801094 + Silent SNP T T C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr7:44801094T>C uc003tlr.2 + 10 1410 c.1287T>C c.(1285-1287)GAT>GAC p.D429D ZMIZ2_uc003tlq.2_Silent_p.D371D|ZMIZ2_uc003tls.2_Silent_p.D403D|ZMIZ2_uc003tlt.2_Silent_p.D52D|ZMIZ2_uc010kyj.2_5'UTR NM_031449 NP_113637 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 isoform 1 429 positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding ovary(2)|large_intestine(2)|breast(1) 5 CTGTGCGCGATGGGGTGGTCC 0.612 NA 5 80 0 0 0 0 ADCY1 107 broad.mit.edu 37 7 45697403 45697403 + Missense_Mutation SNP T T A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr7:45697403T>A uc003tne.3 + 6 1244 c.1226T>A c.(1225-1227)CTG>CAG p.L409Q ADCY1_uc003tnd.2_Missense_Mutation_p.L184Q NM_021116 NP_066939 Q08828 ADCY1_HUMAN adenylate cyclase 1 409 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) TGTGGTGTCCTGGGCTTGCGC 0.602 NA 10 18 0 0 0 0 ZNF735 730291 broad.mit.edu 37 7 63679786 63679786 + Silent SNP A A G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr7:63679786A>G uc011kdn.1 + 4 357 c.357A>G c.(355-357)GGA>GGG p.G119G NM_001159524 NP_001152996 P0CB33 ZN735_HUMAN zinc finger protein 735 119 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GAAAATGTGGACATGAGAATT 0.348 NA 22 30 0 0 0 0 ACN9 57001 broad.mit.edu 37 7 96747113 96747113 + Silent SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr7:96747113C>T uc003uoo.3 + 1 1209 c.78C>T c.(76-78)GAC>GAT p.D26D NM_020186 NP_064571 Q9NRP4 ACN9_HUMAN ACN9 homolog precursor 26 regulation of gluconeogenesis mitochondrial intermembrane space 0 all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159) TGCCCCCGGACCTCAAATCCC 0.597 NA 16 58 0 0 0 0 ZNF394 84124 broad.mit.edu 37 7 99091989 99091989 + Silent SNP A A G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr7:99091989A>G uc003uqs.2 - 3 1010 c.849T>C c.(847-849)AAT>AAC p.N283N ZNF394_uc003uqt.2_Silent_p.N76N NM_032164 NP_115540 Q53GI3 ZN394_HUMAN zinc finger protein 394 283 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) GCAATTCATTATTTTTAGAGT 0.458 NA 9 103 0 0 0 0 PRKAR2B 5577 broad.mit.edu 37 7 106781395 106781395 + Missense_Mutation SNP A A T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr7:106781395A>T uc003vdx.2 + 5 759 c.584A>T c.(583-585)GAT>GTT p.D195V NM_002736 NP_002727 P31323 KAP3_HUMAN cAMP-dependent protein kinase, regulatory 195 cAMP 1. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport centrosome|cytosol|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity ovary(1) 1 TATGTAATTGATAGGTAAGTT 0.348 NA 15 28 0 0 0 0 AHCYL2 23382 broad.mit.edu 37 7 129043233 129043233 + Missense_Mutation SNP G G C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr7:129043233G>C uc011kov.1 + 7 986 c.932G>C c.(931-933)GGA>GCA p.G311A AHCYL2_uc003vot.2_Missense_Mutation_p.G310A|AHCYL2_uc003vov.2_Missense_Mutation_p.G208A|AHCYL2_uc011kow.1_Missense_Mutation_p.G209A|AHCYL2_uc011kox.1_Missense_Mutation_p.G208A NM_015328 NP_056143 Q96HN2 SAHH3_HUMAN S-adenosylhomocysteine hydrolase-like 2 isoform 311 one-carbon metabolic process adenosylhomocysteinase activity ovary(2) 2 TTGGATGATGGAGGGGATCTT 0.403 NA 30 54 0 0 0 0 PARP12 64761 broad.mit.edu 37 7 139727186 139727186 + Silent SNP G G T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr7:139727186G>T uc003vvl.1 - 10 2392 c.1518C>A c.(1516-1518)TCC>TCA p.S506S PARP12_uc003vvk.1_Silent_p.S292S|PARP12_uc010lnf.1_RNA NM_022750 NP_073587 Q9H0J9 PAR12_HUMAN poly ADP-ribose polymerase 12 506 PARP catalytic. nucleus NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding ovary(3) 3 Melanoma(164;0.0142) ACTCTTCCGAGGAAGAACTAA 0.448 NA 19 55 2.94e-08 3.38e-08 1 0 ESCO2 157570 broad.mit.edu 37 8 27657230 27657230 + Missense_Mutation SNP T T G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr8:27657230T>G uc003xgg.2 + 10 1753 c.1670T>G c.(1669-1671)CTC>CGC p.L557R ESCO2_uc010luy.1_RNA NM_001017420 NP_001017420 Q56NI9 ESCO2_HUMAN establishment of cohesion 1 homolog 2 557 cell cycle|post-translational protein acetylation|regulation of DNA replication chromatin|nucleus acyltransferase activity|metal ion binding central_nervous_system(1) 1 Ovarian(32;0.000953) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132) GTTGATACCCTCAGGTAAGAA 0.428 NA SC_Phocomelia_syndrome 26 53 0 0 0 0 ADAM32 203102 broad.mit.edu 37 8 39022614 39022614 + Missense_Mutation SNP G G T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr8:39022614G>T uc003xmt.3 + 9 977 c.732G>T c.(730-732)AAG>AAT p.K244N ADAM32_uc011lch.1_Missense_Mutation_p.K251N|ADAM32_uc003xmu.3_Missense_Mutation_p.K244N NM_145004 NP_659441 Q8TC27 ADA32_HUMAN a disintegrin and metalloprotease domain 32 244 Peptidase M12B.|Extracellular (Potential). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1)|kidney(1) 3 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) ATGAAAATAAGATTTCTACAG 0.303 NA 22 32 7.88e-14 9.37e-14 1 0 ZMAT4 79698 broad.mit.edu 37 8 40554847 40554847 + Missense_Mutation SNP A A G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr8:40554847A>G uc003xnr.2 - 4 412 c.266T>C c.(265-267)GTG>GCG p.V89A ZMAT4_uc003xns.2_Missense_Mutation_p.V89A NM_024645 NP_078921 Q9H898 ZMAT4_HUMAN zinc finger, matrin type 4 isoform a 89 Matrin-type 2. nucleus DNA binding|zinc ion binding pancreas(1)|central_nervous_system(1)|skin(1) 3 Ovarian(28;0.00724)|Colorectal(14;0.0468) all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152) LUSC - Lung squamous cell carcinoma(45;0.00722) GGAATCGGCCACCACCGCTGA 0.502 NA 23 62 0 0 0 0 SULF1 23213 broad.mit.edu 37 8 70517085 70517085 + Nonsense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr8:70517085C>G uc010lza.1 + 13 2012 c.1295C>G c.(1294-1296)TCA>TGA p.S432* SULF1_uc003xyd.2_Nonsense_Mutation_p.S432*|SULF1_uc003xye.2_Nonsense_Mutation_p.S432*|SULF1_uc003xyf.2_Nonsense_Mutation_p.S432*|SULF1_uc003xyg.2_Nonsense_Mutation_p.S432*|SULF1_uc003xyh.1_RNA NM_015170 NP_055985 Q8IWU6 SULF1_HUMAN sulfatase 1 precursor 432 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1) 7 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) ATCCAACAGTCAAATCACTTG 0.463 NA 29 49 0 0 0 0 VPS13B 157680 broad.mit.edu 37 8 100880545 100880545 + Silent SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr8:100880545G>A uc003yiv.2 + 59 11430 c.11319G>A c.(11317-11319)CCG>CCA p.P3773P VPS13B_uc003yiw.2_Silent_p.P3748P NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 3773 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) TTGATCAGCCGATGCAGAACT 0.493 NA 17 50 0 0 0 0 DPYS 1807 broad.mit.edu 37 8 105459661 105459661 + Missense_Mutation SNP T T C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr8:105459661T>C uc003yly.3 - 3 623 c.494A>G c.(493-495)AAA>AGA p.K165R NM_001385 NP_001376 Q14117 DPYS_HUMAN dihydropyrimidinase 165 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) GTACAGATCTTTATAGGCCAT 0.413 NA 22 70 0 0 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110487466 110487466 + Missense_Mutation SNP A A G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr8:110487466A>G uc003yne.2 + 51 8829 c.8725A>G c.(8725-8727)ATT>GTT p.I2909V NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 2909 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) CATAACCAACATTTCATATAC 0.338 NA HNSCC(38;0.096) 6 29 0 0 0 0 CSMD3 114788 broad.mit.edu 37 8 113585824 113585824 + Silent SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr8:113585824G>A uc003ynu.2 - 24 4107 c.3948C>T c.(3946-3948)CGC>CGT p.R1316R CSMD3_uc003yns.2_Silent_p.R588R|CSMD3_uc003ynt.2_Silent_p.R1276R|CSMD3_uc011lhx.1_Silent_p.R1212R NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1316 Extracellular (Potential).|CUB 7. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GTGTCAGTCCGCGCATAGATG 0.353 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 27 88 0 0 0 0 CSMD3 114788 broad.mit.edu 37 8 113988125 113988125 + Missense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr8:113988125C>G uc003ynu.2 - 7 1442 c.1283G>C c.(1282-1284)AGA>ACA p.R428T CSMD3_uc003ynt.2_Missense_Mutation_p.R388T|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 428 Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 ATGTCTTGGTCTTCTCCTGGT 0.453 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 36 92 0 0 0 0 KIAA0196 9897 broad.mit.edu 37 8 126061386 126061386 + Silent SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr8:126061386G>A uc003yrt.2 - 19 2570 c.2241C>T c.(2239-2241)ACC>ACT p.T747T KIAA0196_uc011lir.1_Silent_p.T599T|KIAA0196_uc003yru.1_Silent_p.T321T NM_014846 NP_055661 Q12768 STRUM_HUMAN strumpellin 747 cell death WASH complex ovary(2) 2 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) ATCCATCCATGGTCGCTCCCA 0.403 NA 16 39 0 0 0 0 KCNQ3 3786 broad.mit.edu 37 8 133141630 133141630 + Missense_Mutation SNP A A T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr8:133141630A>T uc003ytj.2 - 15 2723 c.2498T>A c.(2497-2499)CTC>CAC p.L833H KCNQ3_uc010mdt.2_Missense_Mutation_p.L821H|uc003yti.2_5'Flank NM_004519 NP_004510 O43525 KCNQ3_HUMAN potassium voltage-gated channel KQT-like protein 833 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) ACCCTCGGCGAGGTACCGCTT 0.597 NA 8 34 0 0 0 0 CYC1 1537 broad.mit.edu 37 8 145151332 145151332 + Silent SNP T T C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr8:145151332T>C uc003zaz.3 + 4 589 c.546T>C c.(544-546)AGT>AGC p.S182S CYC1_uc003zay.2_Silent_p.S123S NM_001916 NP_001907 P08574 CY1_HUMAN cytochrome c-1 182 Cytochrome c. respiratory electron transport chain|transport cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding 0 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) ACCCCAACAGTGAGGCTGCTC 0.587 NA OREG0019052 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 56 0 0 0 0 PTPLAD2 401494 broad.mit.edu 37 9 21029378 21029378 + Missense_Mutation SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr9:21029378G>A uc010miq.1 - 2 104 c.58C>T c.(58-60)CTT>TTT p.L20F PTPLAD2_uc003zoj.1_5'UTR|PTPLAD2_uc010mir.1_Missense_Mutation_p.L20F NM_001010915 NP_001010915 Q5VWC8 HACD4_HUMAN protein tyrosine phosphatase-like A domain 20 Helical; (Potential). fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane lyase activity skin(1) 1 Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10) TAGATGAAAAGATACGCATTC 0.328 NA 23 73 0 0 0 0 KIAA1539 80256 broad.mit.edu 37 9 35107864 35107864 + Nonsense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr9:35107864C>T uc003zwl.2 - 3 733 c.408G>A c.(406-408)TGG>TGA p.W136* KIAA1539_uc003zwm.2_Nonsense_Mutation_p.W136*|KIAA1539_uc003zwn.2_Intron|KIAA1539_uc003zwo.2_Nonsense_Mutation_p.W136*|KIAA1539_uc003zwp.1_Nonsense_Mutation_p.W136*|KIAA1539_uc010mkk.1_Intron NM_025182 NP_079458 Q7L5A3 K1539_HUMAN hypothetical protein LOC80256 136 nucleus ovary(2) 2 all_epithelial(49;0.217) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) CCCCCGAAGTCCAAGATGAGG 0.617 NA 16 41 0 0 0 0 PIP5K1B 8395 broad.mit.edu 37 9 71532554 71532554 + Missense_Mutation SNP C C T rs146846422 TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr9:71532554C>T uc004agu.2 + 9 1167 c.862C>T c.(862-864)CCA>TCA p.P288S PIP5K1B_uc011lrq.1_Missense_Mutation_p.P288S|PIP5K1B_uc004agv.2_RNA NM_003558 NP_003549 O14986 PI51B_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type 288 PIPK. endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding stomach(1) 1 Lung(182;0.133) GGAGGAGACCCCACAAAATGT 0.473 NA 163 56 0 0 0 0 FAM22G 441457 broad.mit.edu 37 9 99694538 99694538 + Missense_Mutation SNP G G C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr9:99694538G>C uc004awq.1 + 2 1266 c.551G>C c.(550-552)GGA>GCA p.G184A NM_001045477 NP_001038942 Q5VZR2 FA22G_HUMAN hypothetical protein LOC441457 184 skin(1) 1 Acute lymphoblastic leukemia(62;0.0527) GGGGCTCATGGAGAGGGCAGC 0.647 NA 19 110 0 0 0 0 C5 727 broad.mit.edu 37 9 123797114 123797114 + Missense_Mutation SNP G G C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr9:123797114G>C uc004bkv.2 - 5 581 c.551C>G c.(550-552)TCT>TGT p.S184C C5_uc010mvm.1_Missense_Mutation_p.S184C|C5_uc010mvn.1_Missense_Mutation_p.S184C NM_001735 NP_001726 P01031 CO5_HUMAN complement component 5 preproprotein 184 activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) GTCAGGAAAAGAGATAATTCC 0.353 NA 12 22 0 0 0 0 OTUD5 55593 broad.mit.edu 37 X 48780923 48780923 + Silent SNP G G T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chrX:48780923G>T uc004dlu.2 - 8 1642 c.1581C>A c.(1579-1581)TCC>TCA p.S527S OTUD5_uc004dlt.3_Silent_p.S522S|OTUD5_uc004dlv.2_Silent_p.S522S|OTUD5_uc011mmp.1_Silent_p.S305S NM_017602 NP_060072 Q96G74 OTUD5_HUMAN OTU domain containing 5 isoform a 527 negative regulation of type I interferon production cysteine-type peptidase activity pancreas(1) 1 AGGCAGAGGGGGACATCTGCT 0.607 NA 8 3 0.000157383 0.000170602 1 0 ERCC6L 54821 broad.mit.edu 37 X 71426165 71426165 + Missense_Mutation SNP A A C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chrX:71426165A>C uc004eaq.1 - 2 2549 c.2452T>G c.(2452-2454)TTT>GTT p.F818V PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_Missense_Mutation_p.F695V NM_017669 NP_060139 Q2NKX8 ERC6L_HUMAN excision repair protein ERCC6-like 818 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol ATP binding|DNA binding|helicase activity|protein binding ovary(3) 3 Renal(35;0.156) ACACTTCCAAACCCCTTTGGT 0.383 NA 23 10 0 0 0 0 LPAR4 2846 broad.mit.edu 37 X 78011180 78011180 + Missense_Mutation SNP T T G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chrX:78011180T>G uc010nme.2 + 2 1219 c.814T>G c.(814-816)TAT>GAT p.Y272D NM_005296 NP_005287 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 272 Helical; Name=6; (Potential). integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled ovary(3) 3 CCTCTTCTTGTATGCCCTGGT 0.408 NA 21 9 0 0 0 0 ATP1A4 480 broad.mit.edu 37 1 160156092 160156095 + Frame_Shift_Del DEL CCTA CCTA - TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr1:160156092_160156095delCCTA uc001fve.3 + 21 3475_3478 c.2996_2999delCCTA c.(2995-3000)CCCTACfs p.P999fs ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Frame_Shift_Del_p.P502fs|ATP1A4_uc001fvh.2_Frame_Shift_Del_p.P135fs NM_144699 NP_653300 Q13733 AT1A4_HUMAN Na+/K+ -ATPase alpha 4 subunit isoform 1 999_1000 Helical; (Potential). ITWWLCAIPYSILIFVYDEIRKLLIRQ -> WSFALTAQAG VKWRILGLLQPLPPRFK (in Ref. 6; BAC05228). ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(2)|skin(2) 4 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TGTGCCATTCCCTACAGTATTCTC 0.549 NA 16 615 --- --- --- --- NA NA NA NA GPR161 23432 broad.mit.edu 37 1 168074064 168074068 + Frame_Shift_Del DEL AGCTG AGCTG - TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr1:168074064_168074068delAGCTG uc001gfc.2 - 4 335_339 c.21_25delCAGCT c.(19-27)CTCAGCTGCfs p.L7fs GPR161_uc001gfb.2_Intron|GPR161_uc010pll.1_Intron|GPR161_uc010plm.1_Intron|GPR161_uc009wvo.2_Frame_Shift_Del_p.L24fs|GPR161_uc001gfd.2_Frame_Shift_Del_p.L7fs|GPR161_uc010pln.1_Frame_Shift_Del_p.L27fs|GPR161_uc001gfe.1_Frame_Shift_Del_p.L7fs NM_153832 NP_722561 Q8N6U8 GP161_HUMAN G protein-coupled receptor 161 isoform 2 7_9 Extracellular (Potential). multicellular organismal development integral to membrane|plasma membrane G-protein coupled receptor activity 0 all_hematologic(923;0.215) TCCTTCCTGCAGCTGAGGGAGGAGT 0.561 NA 22 892 --- --- --- --- NA NA NA NA MUC6 4588 broad.mit.edu 37 11 1016769 1016771 + In_Frame_Del DEL GGT GGT - TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr11:1016769_1016771delGGT uc001lsw.2 - 31 6081_6083 c.6030_6032delACC c.(6028-6033)CCACCT>CCT p.2010_2011PP>P NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 2010_2011 Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGTGGAGAAAGGTGGAACGTGAG 0.537 NA 9 1388 --- --- --- --- NA NA NA NA PRB2 653247 broad.mit.edu 37 12 11546856 11546858 + In_Frame_Del DEL AGA AGA - TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr12:11546856_11546858delAGA uc010shk.1 - 3 189_191 c.154_156delTCT c.(154-156)TCTdel p.S52del 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) TTCCTGGAGGAGATGGGGGACCT 0.557 NA 9 397 --- --- --- --- NA NA NA NA TGM7 116179 broad.mit.edu 37 15 43579612 43579612 + Frame_Shift_Del DEL C C - TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr15:43579612delC uc001zrf.1 - 6 736 c.731delG c.(730-732)GGCfs p.G244fs NM_052955 NP_443187 Q96PF1 TGM7_HUMAN transglutaminase 7 244 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(2) 2 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.14e-07) L-Glutamine(DB00130) GTAGTCCTCGCCCCAGTTCCC 0.607 NA 17 34 --- --- --- --- NA NA NA NA HAPLN3 145864 broad.mit.edu 37 15 89424690 89424691 + Frame_Shift_Del DEL GC GC - rs78894646 byFrequency TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr15:89424690_89424691delGC uc002bnc.2 - 3 518_519 c.390_391delGC c.(388-393)TCGCTGfs p.S130fs HAPLN3_uc002bne.2_RNA|HAPLN3_uc002bnd.2_Frame_Shift_Del_p.S192fs NM_178232 NP_839946 Q96S86 HPLN3_HUMAN hyaluronan and proteoglycan link protein 3 130_131 Ig-like V-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding 0 Lung NSC(78;0.0392)|all_lung(78;0.077) TGGATCTCCAGCGAGACGTCAT 0.629 NA 32 142 --- --- --- --- NA NA NA NA SYNRG 11276 broad.mit.edu 37 17 35896099 35896100 + Frame_Shift_Ins INS - - A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr17:35896099_35896100insA uc002hoa.2 - 19 3730_3731 c.3647_3648insT c.(3646-3648)ATGfs p.M1216fs SYNRG_uc010wde.1_Frame_Shift_Ins_p.M1138fs|SYNRG_uc010wdf.1_Frame_Shift_Ins_p.M1138fs|SYNRG_uc002hoc.2_Frame_Shift_Ins_p.M1137fs|SYNRG_uc002hoe.2_Frame_Shift_Ins_p.M1138fs|SYNRG_uc002hod.2_Frame_Shift_Ins_p.M1093fs|SYNRG_uc010wdg.1_Frame_Shift_Ins_p.M1010fs|SYNRG_uc002hob.2_Frame_Shift_Ins_p.M1216fs NM_007247 NP_009178 Q9UMZ2 SYNRG_HUMAN synergin, gamma isoform 1 1216 endocytosis|intracellular protein transport AP-1 adaptor complex calcium ion binding ovary(2) 2 TGGCGAGTGACATGAAGCCGAT 0.46 NA 9 63 --- --- --- --- NA NA NA NA FTL 2512 broad.mit.edu 37 19 49469858 49469861 + Frame_Shift_Del DEL ACTC ACTC - TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr19:49469858_49469861delACTC uc002plo.2 + 4 593_596 c.394_397delACTC c.(394-399)ACTCACfs p.T132fs FTL_uc002pln.1_3'UTR NM_000146 NP_000137 P02792 FRIL_HUMAN ferritin, light polypeptide 132_133 Ferritin-like diiron. cell death|cellular iron ion homeostasis|cellular membrane organization|iron ion transport|post-Golgi vesicle-mediated transport cytosol|intracellular ferritin complex ferric iron binding|identical protein binding|oxidoreductase activity 0 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267) Iron Dextran(DB00893) CTTCCTGGAGACTCACTTCCTAGA 0.525 NA 60 157 --- --- --- --- NA NA NA NA EHBP1 23301 broad.mit.edu 37 2 63086416 63086417 + Frame_Shift_Ins INS - - GACTCAGA TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr2:63086416_63086417insGACTCAGA uc002sby.2 + 9 1334_1335 c.852_853insGACTCAGA c.(850-855)CCTGACfs p.P284fs EHBP1_uc010fcp.2_Frame_Shift_Ins_p.P249fs|EHBP1_uc002sbx.2_Frame_Shift_Ins_p.P249fs|EHBP1_uc002sbz.2_Frame_Shift_Ins_p.P249fs|EHBP1_uc002scb.2_Frame_Shift_Ins_p.P249fs NM_015252 NP_056067 Q8NDI1 EHBP1_HUMAN EH domain binding protein 1 isoform 1 284_285 cytoplasm|membrane ovary(1)|breast(1) 2 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) TTGGAGATCCTGACTCAGAAGG 0.361 NA Hereditary_Prostate_Cancer 11 54 --- --- --- --- NA NA NA NA GAB1 2549 broad.mit.edu 37 4 144361302 144361303 + Frame_Shift_Ins INS - - T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr4:144361302_144361303insT uc003ije.2 + 6 1711_1712 c.1352_1353insT c.(1351-1353)AATfs p.N451fs GAB1_uc003ijd.2_Frame_Shift_Ins_p.N451fs|GAB1_uc011chq.1_Frame_Shift_Ins_p.N348fs NM_002039 NP_002030 Q13480 GAB1_HUMAN GRB2-associated binding protein 1 isoform b 451 Pro-rich. cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway cytosol SH3/SH2 adaptor activity breast(2)|lung(1)|skin(1) 4 all_hematologic(180;0.158) GTCCCAATGAATCCCAATTCAC 0.351 NA 35 31 --- --- --- --- NA NA NA NA APC 324 broad.mit.edu 37 5 112173680 112173680 + Frame_Shift_Del DEL G G - TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr5:112173680delG uc010jby.2 + 16 2769 c.2389delG c.(2389-2391)GGTfs p.G797fs APC_uc011cvt.1_Frame_Shift_Del_p.G779fs|APC_uc003kpz.3_Frame_Shift_Del_p.G797fs|APC_uc003kpy.3_Frame_Shift_Del_p.G797fs|APC_uc010jbz.2_Frame_Shift_Del_p.G514fs|APC_uc010jca.2_Frame_Shift_Del_p.G97fs NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 797 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1) large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) AAGTCTCTATGGTGATTATGT 0.358 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) 12 59 --- --- --- --- NA NA NA NA CAPN6 827 broad.mit.edu 37 X 110490693 110490698 + In_Frame_Del DEL TCCTCC TCCTCC - TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chrX:110490693_110490698delTCCTCC uc004epc.1 - 12 1809_1814 c.1641_1646delGGAGGA c.(1639-1647)AAGGAGGAA>AAA p.EE548del CAPN6_uc011msu.1_In_Frame_Del_p.EE293del NM_014289 NP_055104 Q9Y6Q1 CAN6_HUMAN calpain 6 548_549 C2. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1) 6 AGAACGGACTTCCTCCTTTCCACATT 0.393 NA 21 26 --- --- --- --- NA NA NA NA TBL1Y 90665 broad.mit.edu 37 Y 6948772 6948773 + Splice_Site INS - - C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chrY:6948772_6948773insC uc004frb.2 + 14 1603 c.956_splice c.e14-1 p.A319_splice TBL1Y_uc004frc.2_Splice_Site_p.A319_splice|TBL1Y_uc004frd.2_Splice_Site_p.A319_splice|TBL1Y_uc011nap.1_Splice_Site_p.A161_splice NM_033284 NP_150600 Q9BQ87 TBL1Y_HUMAN transducin beta-like 1Y transcription, DNA-dependent 0 CCCTGCTGCAGCCCCCGCCCTT 0.51 NA 34 15 --- --- --- --- NA NA NA NA