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 CA6 765 broad.mit.edu 37 1 9009363 9009363 + Missense_Mutation SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr1:9009363G>A uc001apm.2 + 2 145 c.121G>A c.(121-123)GCC>ACC p.A41T CA6_uc009vmn.2_Intron NM_001215 NP_001206 P23280 CAH6_HUMAN carbonic anhydrase VI precursor 41 one-carbon metabolic process extracellular region carbonate dehydratase activity|zinc ion binding ovary(2) 2 Ovarian(185;0.112)|all_lung(157;0.143) all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649) GCACTACCCCGCCTGTGGGGG 0.597 NA 10 27 0 0 0 0 GPR3 2827 broad.mit.edu 37 1 27721213 27721213 + Missense_Mutation SNP T T C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr1:27721213T>C uc001bod.2 + 2 1006 c.911T>C c.(910-912)GTG>GCG p.V304A NM_005281 NP_005272 P46089 GPR3_HUMAN G protein-coupled receptor 3 304 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway integral to plasma membrane ovary(1) 1 Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419) AACCAGGATGTGCAGAAAGTG 0.547 NA 16 226 0 0 0 0 PTCH2 8643 broad.mit.edu 37 1 45293249 45293249 + Missense_Mutation SNP C C G TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr1:45293249C>G uc010olf.1 - 15 2208 c.2196G>C c.(2194-2196)AGG>AGC p.R732S PTCH2_uc010olg.1_Missense_Mutation_p.R430S NM_003738 NP_003729 Q9Y6C5 PTC2_HUMAN patched 2 732 Extracellular (Potential). protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1) 18 Acute lymphoblastic leukemia(166;0.155) GGGAGAAGTACCTGAGCTGGG 0.637 NA Basal_Cell_Nevus_syndrome 9 63 0 0 0 0 CYP2J2 1573 broad.mit.edu 37 1 60377930 60377930 + Missense_Mutation SNP T T C rs55753213 TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr1:60377930T>C uc001czq.2 - 3 432 c.427A>G c.(427-429)ACA>GCA p.T143A NM_000775 NP_000766 P51589 CP2J2_HUMAN cytochrome P450, family 2, subfamily J, 143 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) CTTAGTGCTGTCAGAGTGAAC 0.433 NA 5 61 0 0 0 0 LRIG2 9860 broad.mit.edu 37 1 113636139 113636139 + Silent SNP A A T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr1:113636139A>T uc001edf.1 + 4 666 c.468A>T c.(466-468)ATA>ATT p.I156I LRIG2_uc009wgn.1_Silent_p.I53I NM_014813 NP_055628 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like 156 LRR 4.|Extracellular (Potential). cytoplasm|integral to membrane|plasma membrane ovary(3) 3 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) CAAATATAATATCAGAAATCA 0.333 NA 7 31 0 0 0 0 NBPF10 100132406 broad.mit.edu 37 1 145323690 145323690 + Missense_Mutation SNP A A G TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr1:145323690A>G uc001end.3 + 29 3787 c.3752A>G c.(3751-3753)GAC>GGC p.D1251G NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc010oym.1_Intron|NBPF10_uc010oyn.1_Intron|NBPF10_uc010oyo.1_Intron|NBPF10_uc010oyp.1_5'Flank NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 1176 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GAAGACCAAGACCCACCATGC 0.463 NA 6 822 0 0 0 0 FLG 2312 broad.mit.edu 37 1 152282261 152282261 + Missense_Mutation SNP G G T rs145738429 TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr1:152282261G>T uc001ezu.1 - 3 5137 c.5101C>A c.(5101-5103)CAA>AAA p.Q1701K NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1701 Ser-rich.|Filaggrin 10. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GATGAATCTTGTCTGCGCCCA 0.562 NA Ichthyosis 16 439 6.32e-08 1.59e-07 1 0 SPTA1 6708 broad.mit.edu 37 1 158639216 158639216 + Silent SNP T T C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr1:158639216T>C uc001fst.1 - 14 2014 c.1815A>G c.(1813-1815)GCA>GCG p.A605A NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 605 Spectrin 7. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) CTTCATCATCTGCCAACTTTT 0.363 NA 16 269 0 0 0 0 DARC 2532 broad.mit.edu 37 1 159175972 159175972 + Missense_Mutation SNP C C A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr1:159175972C>A uc001fto.2 + 2 983 c.743C>A c.(742-744)GCC>GAC p.A248D DARC_uc001ftp.3_Missense_Mutation_p.A250D NM_002036 NP_002027 Q16570 DUFFY_HUMAN Duffy blood group antigen isoform b 248 Helical; Name=6; (Potential). defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity ovary(1)|lung(1) 2 all_hematologic(112;0.0429) ATCCTGTGGGCCTGGTTTATT 0.537 NA 16 134 2.23e-06 5.58e-06 1 0 SLC19A2 10560 broad.mit.edu 37 1 169439294 169439294 + Missense_Mutation SNP A A G TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr1:169439294A>G uc001gge.3 - 3 1142 c.938T>C c.(937-939)GTG>GCG p.V313A SLC19A2_uc001ggf.3_Missense_Mutation_p.V112A NM_006996 NP_008927 O60779 S19A2_HUMAN solute carrier family 19, member 2 313 Extracellular (Potential). thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity 0 all_hematologic(923;0.208) TGTGTAGTTCACAACTTGAAA 0.498 NA 11 114 0 0 0 0 KCTD3 51133 broad.mit.edu 37 1 215777531 215777531 + Missense_Mutation SNP T T G TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr1:215777531T>G uc001hks.2 + 13 1490 c.1196T>G c.(1195-1197)GTG>GGG p.V399G KCTD3_uc001hkt.2_Missense_Mutation_p.V399G|KCTD3_uc010pub.1_Missense_Mutation_p.V297G|KCTD3_uc009xdn.2_Missense_Mutation_p.V151G NM_016121 NP_057205 Q9Y597 KCTD3_HUMAN potassium channel tetramerisation domain 399 voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity ovary(3) 3 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) GCAGTACGAGTGATTGTACAA 0.453 NA 5 68 0 0 0 0 RYR2 6262 broad.mit.edu 37 1 237659885 237659885 + Missense_Mutation SNP T T C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr1:237659885T>C uc001hyl.1 + 20 2156 c.2036T>C c.(2035-2037)GTG>GCG p.V679A NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 679 Cytoplasmic (By similarity).|B30.2/SPRY 1. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GAATTGATGGTGGACCACACA 0.493 NA 4 79 0 0 0 0 RYR2 6262 broad.mit.edu 37 1 237993897 237993897 + Missense_Mutation SNP A A G TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr1:237993897A>G uc001hyl.1 + 103 14843 c.14723A>G c.(14722-14724)CAC>CGC p.H4908R RYR2_uc010pyb.1_Intron NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4908 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TTTGAAACCCACACTTTACAG 0.463 NA 13 134 0 0 0 0 ITGA8 8516 broad.mit.edu 37 10 15647748 15647748 + Missense_Mutation SNP G G T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr10:15647748G>T uc001ioc.1 - 19 1945 c.1945C>A c.(1945-1947)CCT>ACT p.P649T ITGA8_uc010qcb.1_Missense_Mutation_p.P634T NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 649 Extracellular (Potential). cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 TTCAAGTCAGGAACACACAGA 0.388 NA 6 31 8.13e-05 0.000198451 1 0 PLXDC2 84898 broad.mit.edu 37 10 20568717 20568717 + Missense_Mutation SNP A A G TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr10:20568717A>G uc001iqg.1 + 14 2196 c.1559A>G c.(1558-1560)AAA>AGA p.K520R PLXDC2_uc001iqh.1_Missense_Mutation_p.K471R|PLXDC2_uc009xkc.1_RNA NM_032812 NP_116201 Q6UX71 PXDC2_HUMAN plexin domain containing 2 precursor 520 Cytoplasmic (Potential). integral to membrane ovary(2)|central_nervous_system(1)|skin(1) 4 GTTGGAGAGAAAGAAGGCTTT 0.423 NA 3 44 0 0 0 0 CTNNA3 29119 broad.mit.edu 37 10 69407256 69407256 + Missense_Mutation SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr10:69407256G>A uc009xpn.1 - 2 139 c.16C>T c.(16-18)CCA>TCA p.P6S CTNNA3_uc001jmw.2_Missense_Mutation_p.P6S|CTNNA3_uc001jmx.3_Missense_Mutation_p.P6S|CTNNA3_uc009xpo.1_5'UTR|CTNNA3_uc001jna.2_Missense_Mutation_p.P18S NM_001127384 NP_001120856 Q9UI47 CTNA3_HUMAN catenin, alpha 3 6 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1) 8 AATGTGATTGGTGTTTCAGCT 0.393 NA 13 105 0 0 0 0 USP54 159195 broad.mit.edu 37 10 75289616 75289616 + Missense_Mutation SNP A A G TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr10:75289616A>G uc001juo.2 - 13 1899 c.1882T>C c.(1882-1884)TTT>CTT p.F628L USP54_uc001juk.2_5'UTR|USP54_uc001jul.2_5'UTR|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA|USP54_uc001jup.2_Missense_Mutation_p.F628L|USP54_uc010qkl.1_Missense_Mutation_p.F628L NM_152586 NP_689799 Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 628 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(3)|lung(2)|kidney(1) 6 Prostate(51;0.0112) GGTCCACCAAATTTAATGTCG 0.483 NA OREG0020266 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 130 0 0 0 0 NDST2 8509 broad.mit.edu 37 10 75567972 75567972 + Missense_Mutation SNP C C T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr10:75567972C>T uc001jvk.2 - 3 979 c.175G>A c.(175-177)GGG>AGG p.G59R NDST2_uc010qks.1_5'Flank|NDST2_uc010qkt.1_Intron|NDST2_uc009xro.2_5'Flank|NDST2_uc010qku.1_5'Flank NM_003635 NP_003626 P52849 NDST2_HUMAN heparan glucosaminyl 59 Lumenal (Potential).|Heparan sulfate N-deacetylase 2. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity ovary(1) 1 Prostate(51;0.0112) CCAGCTGCCCCACCGCTGCTG 0.632 NA 3 16 0 0 0 0 IFIT3 3437 broad.mit.edu 37 10 91098946 91098946 + Silent SNP T T C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr10:91098946T>C uc001kgf.2 + 2 763 c.534T>C c.(532-534)ATT>ATC p.I178I LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron|IFIT3_uc001kgg.2_Silent_p.I178I NM_001549 NP_001540 O14879 IFIT3_HUMAN interferon-induced protein with 178 TPR 4. type I interferon-mediated signaling pathway protein binding central_nervous_system(1) 1 GACTGGCAATTGCGATGTACC 0.458 NA 15 91 0 0 0 0 SORBS1 10580 broad.mit.edu 37 10 97174256 97174256 + Missense_Mutation SNP T T A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr10:97174256T>A uc001kkp.2 - 7 850 c.805A>T c.(805-807)AGT>TGT p.S269C SORBS1_uc001kkl.2_5'UTR|SORBS1_uc001kkn.2_Intron|SORBS1_uc001kkm.2_Intron|SORBS1_uc001kko.2_Missense_Mutation_p.S269C|SORBS1_uc001kkq.2_Missense_Mutation_p.S200C|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_RNA|SORBS1_uc001kku.2_Intron|SORBS1_uc001kkv.2_Missense_Mutation_p.S237C|SORBS1_uc001kkw.2_Missense_Mutation_p.S269C|SORBS1_uc010qoe.1_Intron|SORBS1_uc010qof.1_Missense_Mutation_p.S467C|SORBS1_uc001kkx.1_Missense_Mutation_p.S237C NM_001034954 NP_001030126 Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 isoform 3 269 focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity breast(1) 1 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) CTTACGGTACTCGAAACAGCT 0.602 NA 8 47 0 0 0 0 C10orf120 399814 broad.mit.edu 37 10 124459210 124459210 + Missense_Mutation SNP T T C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr10:124459210T>C uc001lgn.2 - 1 129 c.97A>G c.(97-99)ATA>GTA p.I33V NM_001010912 NP_001010912 Q5SQS8 CJ120_HUMAN hypothetical protein LOC399814 33 kidney(1) 1 all_neural(114;0.169)|Glioma(114;0.222) GTATTAAATATTCTAACTGGC 0.433 NA 15 58 0 0 0 0 OR8H1 219469 broad.mit.edu 37 11 56057819 56057819 + Silent SNP A A G TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr11:56057819A>G uc010rje.1 - 1 720 c.720T>C c.(718-720)TGT>TGC p.C240C NM_001005199 NP_001005199 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, 240 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 Esophageal squamous(21;0.00448) GATGAGAGGCACAAGTAGACA 0.383 NA 12 60 0 0 0 0 OR5M8 219484 broad.mit.edu 37 11 56258800 56258800 + Missense_Mutation SNP A A T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr11:56258800A>T uc001nix.1 - 1 47 c.47T>A c.(46-48)CTG>CAG p.L16Q NM_001005282 NP_001005282 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, 16 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Esophageal squamous(21;0.00352) GCGACTGGTCAGTCCCAGGAG 0.448 NA 17 74 0 0 0 0 OSBP 5007 broad.mit.edu 37 11 59361545 59361545 + Missense_Mutation SNP G G T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr11:59361545G>T uc001noc.1 - 8 1975 c.1495C>A c.(1495-1497)CTT>ATT p.L499I OSBP_uc009ymr.1_RNA NM_002556 NP_002547 P22059 OSBP1_HUMAN oxysterol binding protein 499 lipid transport Golgi membrane oxysterol binding large_intestine(1) 1 all_epithelial(135;0.000236) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) GTCTCCCCAAGCAGTGGGTTG 0.488 NA 4 28 0.000602214 0.00145332 1 0 ZBTB3 79842 broad.mit.edu 37 11 62521078 62521078 + Missense_Mutation SNP T T A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr11:62521078T>A uc001nuz.2 - 2 331 c.209A>T c.(208-210)CAG>CTG p.Q70L NM_024784 NP_079060 Q9H5J0 ZBTB3_HUMAN zinc finger and BTB domain containing 3 70 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|ovary(1) 3 AAGGAAACCCTGGGACCGCTG 0.592 NA 9 30 0 0 0 0 KDELC2 143888 broad.mit.edu 37 11 108348424 108348424 + Silent SNP T T C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr11:108348424T>C uc001pkj.2 - 7 1374 c.1308A>G c.(1306-1308)GAA>GAG p.E436E KDELC2_uc001pki.2_Silent_p.E380E NM_153705 NP_714916 Q7Z4H8 KDEL2_HUMAN KDEL (Lys-Asp-Glu-Leu) containing 2 precursor 436 endoplasmic reticulum lumen ovary(1) 1 all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14) TCTTCTTGGCTTCTTCATCAT 0.413 NA 17 71 0 0 0 0 ALG9 79796 broad.mit.edu 37 11 111739396 111739396 + Missense_Mutation SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr11:111739396G>A uc001pmb.2 - 4 433 c.334C>T c.(334-336)CGC>TGC p.R112C ALG9_uc001ply.2_5'UTR|ALG9_uc001plz.2_5'UTR|ALG9_uc010rwm.1_Missense_Mutation_p.R112C|ALG9_uc010rwn.1_Missense_Mutation_p.R66C|ALG9_uc010rwo.1_5'UTR|ALG9_uc009yyh.1_Silent_p.F30F NM_001077690 NP_001071158 Q9H6U8 ALG9_HUMAN asparagine-linked glycosylation 9 protein 112 Lumenal (Potential). dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,2-mannosyltransferase activity large_intestine(1)|ovary(1) 2 all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587) GCATAGGAGCGAATGGCATAT 0.433 NA 8 43 0 0 0 0 C11orf1 64776 broad.mit.edu 37 11 111753218 111753218 + Missense_Mutation SNP A A G TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr11:111753218A>G uc001pmd.2 + 2 509 c.172A>G c.(172-174)ACC>GCC p.T58A C11orf1_uc001pme.2_Missense_Mutation_p.T98A NM_022761 NP_073598 Q9H5F2 CK001_HUMAN hypothetical protein LOC64776 58 nucleus 0 all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281) all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06) ATGGCGATGCACCACTAATGA 0.468 NA 6 40 0 0 0 0 ZNF202 7753 broad.mit.edu 37 11 123597309 123597309 + Missense_Mutation SNP T T A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr11:123597309T>A uc001pzd.1 - 9 1743 c.1343A>T c.(1342-1344)AAG>ATG p.K448M ZNF202_uc001pzc.1_Missense_Mutation_p.K224M|ZNF202_uc001pze.1_Missense_Mutation_p.K448M|ZNF202_uc001pzf.1_Missense_Mutation_p.K448M NM_003455 NP_003446 O95125 ZN202_HUMAN zinc finger protein 202 448 lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03) CGCGTTCATCTTGTGAACCTT 0.468 NA 18 78 0 0 0 0 ZBTB44 29068 broad.mit.edu 37 11 130131282 130131282 + Missense_Mutation SNP C C A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr11:130131282C>A uc001qga.2 - 2 881 c.487G>T c.(487-489)GTG>TTG p.V163L ZBTB44_uc001qgb.3_Missense_Mutation_p.V163L|ZBTB44_uc001qfx.2_RNA|ZBTB44_uc001qgc.1_Missense_Mutation_p.V163L|ZBTB44_uc001qfz.2_Missense_Mutation_p.V163L NM_014155 NP_054874 Q8NCP5 ZBT44_HUMAN zinc finger and BTB domain containing 44 163 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235) TCTGAGGACACGGGAGAAATG 0.453 NA 8 42 5.18e-06 1.29e-05 1 0 KDM5A 5927 broad.mit.edu 37 12 464365 464365 + Missense_Mutation SNP T T C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr12:464365T>C uc001qif.1 - 7 1192 c.829A>G c.(829-831)ATG>GTG p.M277V KDM5A_uc001qie.1_Missense_Mutation_p.M277V|KDM5A_uc010sdn.1_Missense_Mutation_p.M236V|KDM5A_uc010sdo.1_Intron NM_001042603 NP_001036068 P29375 KDM5A_HUMAN retinoblastoma binding protein 2 isoform 1 277 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2)|ovary(1) 3 CTCATTTGCATGTTAAATGCG 0.328 NA T NUP98 AML 10 37 0 0 0 0 C12orf36 283422 broad.mit.edu 37 12 13526327 13526327 + Silent SNP C C T rs146660868 TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr12:13526327C>T uc001rbs.1 - 3 446 c.228G>A c.(226-228)GAG>GAA p.E76E NM_182558 NP_872364 hypothetical protein LOC283422 0 BRCA - Breast invasive adenocarcinoma(232;0.198) TGTCTACGAGCGCTCTGACTC 0.473 NA 12 51 0 0 0 0 PTPRO 5800 broad.mit.edu 37 12 15733638 15733638 + Missense_Mutation SNP A A G TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr12:15733638A>G uc001rcv.1 + 22 3179 c.3005A>G c.(3004-3006)AAC>AGC p.N1002S PTPRO_uc001rcw.1_Missense_Mutation_p.N974S|PTPRO_uc001rcx.1_Missense_Mutation_p.N191S|PTPRO_uc001rcy.1_Missense_Mutation_p.N191S|PTPRO_uc001rcz.1_Missense_Mutation_p.N163S|PTPRO_uc001rda.1_Missense_Mutation_p.N163S NM_030667 NP_109592 Q16827 PTPRO_HUMAN receptor-type protein tyrosine phosphatase O 1002 Cytoplasmic (Potential).|Tyrosine-protein phosphatase. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 9 Hepatocellular(102;0.244) CAGGGATACAACTCACCCCAG 0.438 NA 10 30 0 0 0 0 COL2A1 1280 broad.mit.edu 37 12 48367278 48367278 + Missense_Mutation SNP C C T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr12:48367278C>T uc001rqu.2 - 54 4557 c.4376G>A c.(4375-4377)CGC>CAC p.R1459H COL2A1_uc001rqt.2_Missense_Mutation_p.R240H|COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.R1390H NM_001844 NP_001835 P02458 CO2A1_HUMAN collagen, type II, alpha 1 isoform 1 precursor 1459 Fibrillar collagen NC1. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) GATGGGGAGGCGTGAGGTCTT 0.527 NA 24 56 0 0 0 0 PRPF40B 25766 broad.mit.edu 37 12 50036081 50036081 + Missense_Mutation SNP C C T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr12:50036081C>T uc001rur.1 + 19 1946 c.1882C>T c.(1882-1884)CGC>TGC p.R628C FMNL3_uc001ruv.1_3'UTR|FMNL3_uc001ruw.1_3'UTR|PRPF40B_uc001rup.1_Missense_Mutation_p.R650C|PRPF40B_uc001ruq.1_Missense_Mutation_p.R615C|PRPF40B_uc001rus.1_Missense_Mutation_p.R571C|FMNL3_uc001rut.1_3'UTR|FMNL3_uc001ruu.1_3'UTR NM_001031698 NP_001026868 Q6NWY9 PR40B_HUMAN Huntingtin interacting protein C isoform 1 628 mRNA processing|RNA splicing nuclear speck skin(2)|ovary(1)|pancreas(1)|kidney(1) 5 CAGGATGCGGCGCAGGGAAGC 0.642 NA 8 84 0 0 0 0 KRT1 3848 broad.mit.edu 37 12 53069124 53069124 + Silent SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr12:53069124G>A uc001sau.1 - 9 1847 c.1788C>T c.(1786-1788)GGC>GGT p.G596G KRT1_uc001sav.1_Silent_p.G589G NM_006121 NP_006112 P04264 K2C1_HUMAN keratin 1 596 Gly/Ser-rich.|Tail. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding ovary(1)|skin(1) 2 cagagctgccgccgccgccgc 0.289 NA 9 37 0 0 0 0 ATP5G2 517 broad.mit.edu 37 12 54063126 54063126 + Splice_Site SNP C C T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr12:54063126C>T uc009znc.2 - 5 819 c.118_splice c.e5-1 p.S40_splice ATP5G2_uc001sec.2_Splice_Site_p.S97_splice|ATP5G2_uc001sed.2_Splice_Site_p.S56_splice NM_001002031 NP_001002031 Q06055 AT5G2_HUMAN ATP synthase, H+ transporting, mitochondrial F0 ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transmembrane transporter activity|lipid binding ovary(1) 1 TGCTGAGGCTCTGTGAAAAAG 0.473 NA 3 22 0 0 0 0 C12orf63 374467 broad.mit.edu 37 12 97073479 97073479 + Missense_Mutation SNP T T A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr12:97073479T>A uc001tet.1 + 7 1018 c.940T>A c.(940-942)TCA>ACA p.S314T NM_198520 NP_940922 Q6ZTY8 CL063_HUMAN hypothetical protein LOC374467 314 skin(6)|ovary(1) 7 CCATAACAGATCAATCCGACA 0.443 NA 34 87 0 0 0 0 TCTN1 79600 broad.mit.edu 37 12 111078916 111078916 + Missense_Mutation SNP G G C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr12:111078916G>C uc009zvs.2 + 9 1174 c.1066G>C c.(1066-1068)GTC>CTC p.V356L TCTN1_uc009zvr.1_RNA|TCTN1_uc001trl.2_RNA|TCTN1_uc001trm.2_Missense_Mutation_p.V296L|TCTN1_uc010syc.1_RNA|TCTN1_uc001tro.2_RNA|TCTN1_uc001trp.3_Missense_Mutation_p.V342L|TCTN1_uc001trn.3_Missense_Mutation_p.V356L|TCTN1_uc001trj.1_Missense_Mutation_p.V300L|TCTN1_uc001trk.3_RNA|HVCN1_uc001trq.1_Intron NM_001082537 NP_001076006 Q2MV58 TECT1_HUMAN tectonic family member 1 isoform 2 356 multicellular organismal development extracellular region 0 CAGCGTAGTGGTCCCACTGCA 0.378 NA 16 56 0 0 0 0 TAOK3 51347 broad.mit.edu 37 12 118610455 118610455 + Missense_Mutation SNP T T C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr12:118610455T>C uc001twx.2 - 17 2001 c.1706A>G c.(1705-1707)GAG>GGG p.E569G TAOK3_uc001twv.2_Missense_Mutation_p.E109G|TAOK3_uc001tww.2_Missense_Mutation_p.E399G|TAOK3_uc001twy.3_Missense_Mutation_p.E569G NM_016281 NP_057365 Q9H2K8 TAOK3_HUMAN TAO kinase 3 569 Potential. MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation mitochondrion|plasma membrane ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity lung(5)|central_nervous_system(1) 6 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GCTATGGTCCTCATTCATTTC 0.418 NA 3 138 0 0 0 0 DDX55 57696 broad.mit.edu 37 12 124099831 124099831 + Missense_Mutation SNP T T A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr12:124099831T>A uc001ufi.2 + 9 948 c.924T>A c.(922-924)AAT>AAA p.N308K DDX55_uc001ufh.2_Missense_Mutation_p.N161K|DDX55_uc001ufj.1_Missense_Mutation_p.N161K|DDX55_uc001ufk.2_Missense_Mutation_p.N161K NM_020936 NP_065987 Q8NHQ9 DDX55_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 308 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772) ATAAACGCAATAAGATCTTCA 0.378 NA 9 48 0 0 0 0 TMEM132D 121256 broad.mit.edu 37 12 129559121 129559121 + Missense_Mutation SNP C C T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr12:129559121C>T uc009zyl.1 - 9 2927 c.2599G>A c.(2599-2601)GGC>AGC p.G867S TMEM132D_uc001uia.2_Missense_Mutation_p.G405S NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 867 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) CTTTCCTGGCCTTTCTTCTTC 0.567 NA 6 55 0 0 0 0 GPR133 283383 broad.mit.edu 37 12 131593399 131593399 + Missense_Mutation SNP G G A rs141128784 TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr12:131593399G>A uc001uit.3 + 18 2577 c.2018G>A c.(2017-2019)CGT>CAT p.R673H GPR133_uc010tbm.1_Missense_Mutation_p.R705H|GPR133_uc009zyo.2_Intron|GPR133_uc001uiv.1_Missense_Mutation_p.R192H|GPR133_uc009zyp.2_RNA NM_198827 NP_942122 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 precursor 673 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(5)|ovary(3)|skin(2) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) AGCAAGCACCGTTACTACTat 0.299 NA 15 68 0 0 0 0 SLC46A3 283537 broad.mit.edu 37 13 29287503 29287503 + Missense_Mutation SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr13:29287503G>A uc001usi.2 - 2 1344 c.374C>T c.(373-375)GCC>GTC p.A125V SLC46A3_uc001usg.2_Missense_Mutation_p.A50V|SLC46A3_uc001usj.2_Missense_Mutation_p.A125V|SLC46A3_uc001ush.2_Missense_Mutation_p.A125V|SLC46A3_uc001usk.2_Missense_Mutation_p.A50V NM_181785 NP_861450 Q7Z3Q1 S46A3_HUMAN solute carrier family 46, member 3 isoform a 125 Extracellular (Potential). transmembrane transport integral to membrane central_nervous_system(1)|skin(1) 2 Lung SC(185;0.0367) all cancers(112;0.159) GAATGGAAAGGCAAAATAGCA 0.413 NA 6 22 0 0 0 0 NBEA 26960 broad.mit.edu 37 13 35770345 35770345 + Missense_Mutation SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr13:35770345G>A uc001uvb.2 + 31 5478 c.5272G>A c.(5272-5274)GCA>ACA p.A1758T NBEA_uc010abi.2_Missense_Mutation_p.A414T NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 1758 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) AGTTGAAATAGCAGAATGTGG 0.428 NA 12 44 0 0 0 0 FOXO1 2308 broad.mit.edu 37 13 41133857 41133857 + Missense_Mutation SNP C C T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr13:41133857C>T uc001uxl.3 - 2 2156 c.1771G>A c.(1771-1773)GGC>AGC p.G591S FOXO1_uc010acc.1_Missense_Mutation_p.G406S NM_002015 NP_002006 Q12778 FOXO1_HUMAN forkhead box O1 591 anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding PAX3/FOXO1(749)|PAX7/FOXO1(197) soft_tissue(946)|lung(1)|central_nervous_system(1) 948 Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815) TGGAGAAGGCCCATTCTGCCA 0.547 NA 22 71 0 0 0 0 DIS3 22894 broad.mit.edu 37 13 73337680 73337680 + Missense_Mutation SNP T T G TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr13:73337680T>G uc001vix.3 - 16 2410 c.2036A>C c.(2035-2037)CAT>CCT p.H679P DIS3_uc001viy.3_Missense_Mutation_p.H649P|DIS3_uc001viz.2_RNA NM_014953 NP_055768 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control isoform a 679 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding central_nervous_system(1) 1 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) AAATTCCTCATGAATTTTTTT 0.368 NA Multiple Myeloma(4;0.011) 6 32 0 0 0 0 TEP1 7011 broad.mit.edu 37 14 20845894 20845894 + Missense_Mutation SNP A A T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr14:20845894A>T uc001vxe.2 - 40 5780 c.5740T>A c.(5740-5742)TCT>ACT p.S1914T TEP1_uc010ahk.2_Missense_Mutation_p.S1257T|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.S1806T|TEP1_uc010tlh.1_Missense_Mutation_p.S252T NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 1914 WD 7. 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) CGACCCAGAGACCCTGACCAC 0.587 NA 12 46 0 0 0 0 C14orf135 64430 broad.mit.edu 37 14 60582438 60582438 + Silent SNP A A G TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr14:60582438A>G uc001xer.3 + 4 1179 c.657A>G c.(655-657)GTA>GTG p.V219V C14orf135_uc001xeq.2_Silent_p.V219V|C14orf135_uc010apm.2_5'Flank NM_022495 NP_071940 Q63HM2 CN135_HUMAN hepatitis C virus F protein-binding protein 2 453 Helical; (Potential). integral to membrane ovary(2) 2 Myeloproliferative disorder(585;0.163) OV - Ovarian serous cystadenocarcinoma(108;0.127) TTGTTTTAGTATCACCTTTTG 0.343 NA 9 14 0 0 0 0 SERPINA4 5267 broad.mit.edu 37 14 95033317 95033317 + Silent SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr14:95033317G>A uc001ydk.2 + 3 726 c.660G>A c.(658-660)GAG>GAA p.E220E SERPINA4_uc010avd.2_Silent_p.E257E|SERPINA4_uc001ydl.2_Silent_p.E220E NM_006215 NP_006206 P29622 KAIN_HUMAN serine (or cysteine) proteinase inhibitor, clade 220 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity ovary(3)|skin(1) 4 COAD - Colon adenocarcinoma(157;0.211) CCCTGTGGGAGAAACCATTCA 0.517 NA 16 121 0 0 0 0 GPR132 29933 broad.mit.edu 37 14 105517549 105517549 + Missense_Mutation SNP C C T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr14:105517549C>T uc001yqd.2 - 4 1824 c.925G>A c.(925-927)GTG>ATG p.V309M GPR132_uc001yqc.2_Missense_Mutation_p.V121M|GPR132_uc001yqe.2_Missense_Mutation_p.V300M NM_013345 NP_037477 Q9UNW8 GP132_HUMAN G protein-coupled receptor 132 309 Helical; Name=7; (Potential). response to stress integral to membrane|plasma membrane G-protein coupled receptor activity ovary(2)|central_nervous_system(1) 3 all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219) OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227) Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521) GTGGCCAGCACGTAGATAATG 0.577 NA 34 34 0 0 0 0 CAPN3 825 broad.mit.edu 37 15 42701996 42701996 + Silent SNP C C T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr15:42701996C>T uc001zpn.1 + 18 2310 c.2004C>T c.(2002-2004)ATC>ATT p.I668I CAPN3_uc001zpk.1_Silent_p.I435I|CAPN3_uc001zpl.1_Silent_p.I575I|CAPN3_uc010udf.1_Silent_p.I581I|CAPN3_uc010udg.1_Silent_p.I533I|CAPN3_uc001zpo.1_Silent_p.I662I|CAPN3_uc001zpp.1_Silent_p.I576I|CAPN3_uc001zpq.1_Silent_p.I156I|CAPN3_uc010bcv.1_Silent_p.I3I|CAPN3_uc001zpr.1_Silent_p.I3I|CAPN3_uc001zps.1_Silent_p.I3I|CAPN3_uc001zpt.1_Silent_p.I3I NM_000070 NP_000061 P20807 CAN3_HUMAN calpain 3 isoform a 668 EF-hand 1.|Domain IV. muscle organ development|proteolysis cytoplasm calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity central_nervous_system(1) 1 all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;7.36e-07) ACATGGAGATCTGTGCAGATG 0.542 NA 29 111 0 0 0 0 DPP8 54878 broad.mit.edu 37 15 65759441 65759441 + Missense_Mutation SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr15:65759441G>A uc002aov.2 - 13 3283 c.1705C>T c.(1705-1707)CGT>TGT p.R569C DPP8_uc002aow.2_Missense_Mutation_p.R569C|DPP8_uc010uiv.1_RNA|DPP8_uc002aox.2_Missense_Mutation_p.R553C|DPP8_uc002aoy.2_Missense_Mutation_p.R569C|DPP8_uc002aoz.2_Missense_Mutation_p.R553C|DPP8_uc010bhj.2_Missense_Mutation_p.R569C|DPP8_uc002apa.2_Missense_Mutation_p.R466C|DPP8_uc010bhi.2_5'UTR|DPP8_uc010bhk.1_Missense_Mutation_p.R138C NM_130434 NP_569118 Q6V1X1 DPP8_HUMAN dipeptidyl peptidase 8 isoform 1 569 immune response|proteolysis cytoplasm|membrane|nucleus aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity ovary(1) 1 GAGTAGCCACGGTCAGTCAGC 0.413 NA 5 34 0 0 0 0 ACSBG1 23205 broad.mit.edu 37 15 78474320 78474320 + Silent SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr15:78474320G>A uc002bdh.2 - 8 1118 c.1062C>T c.(1060-1062)GAC>GAT p.D354D ACSBG1_uc010umw.1_Silent_p.D350D|ACSBG1_uc010umx.1_Silent_p.D112D|ACSBG1_uc010umy.1_Silent_p.D247D NM_015162 NP_055977 Q96GR2 ACBG1_HUMAN lipidosin 354 long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity ovary(1) 1 CCTTCAGGGCGTCGGGTTCGG 0.607 NA 22 33 0 0 0 0 HPR 3250 broad.mit.edu 37 16 72110789 72110789 + Missense_Mutation SNP T T C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr16:72110789T>C uc002fby.2 + 5 886 c.856T>C c.(856-858)TCT>CCT p.S286P TXNL4B_uc010cgl.2_Intron NM_020995 NP_066275 P00739 HPTR_HUMAN haptoglobin-related protein precursor 286 Peptidase S1. proteolysis spherical high-density lipoprotein particle hemoglobin binding|serine-type endopeptidase activity central_nervous_system(1) 1 Ovarian(137;0.125) TGTCGGCATGTCTAAGTACCA 0.567 NA 7 87 0 0 0 0 DNAH9 1770 broad.mit.edu 37 17 11607668 11607668 + Missense_Mutation SNP A A G TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr17:11607668A>G uc002gne.2 + 25 5368 c.5300A>G c.(5299-5301)CAG>CGG p.Q1767R DNAH9_uc010coo.2_Missense_Mutation_p.Q1061R NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 1767 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CTGATTGGCCAGCTCTCCAAG 0.517 NA 4 68 0 0 0 0 SLC46A1 113235 broad.mit.edu 37 17 26731995 26731995 + Silent SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr17:26731995G>A uc002hbf.1 - 2 816 c.720C>T c.(718-720)ACC>ACT p.T240T SLC46A1_uc002hbg.1_Silent_p.T240T|SLC46A1_uc010wak.1_Silent_p.T240T NM_080669 NP_542400 Q96NT5 PCFT_HUMAN proton-coupled folate transporter 240 cellular iron ion homeostasis|folic acid metabolic process apical plasma membrane|cytoplasm|integral to membrane folic acid binding|folic acid transporter activity|heme transporter activity 0 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) Folic Acid(DB00158) TGAAGAGCCGGGTGGACTTTG 0.547 NA 6 125 0 0 0 0 COLEC12 81035 broad.mit.edu 37 18 347016 347016 + Silent SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr18:347016G>A uc002kkm.2 - 5 821 c.606C>T c.(604-606)GTC>GTT p.V202V NM_130386 NP_569057 Q5KU26 COL12_HUMAN collectin sub-family member 12 202 Extracellular (Potential). carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity ovary(1)|pancreas(1) 2 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) GGTTCATGATGACCACATTAT 0.507 NA 5 125 0 0 0 0 MC5R 4161 broad.mit.edu 37 18 13826399 13826399 + Missense_Mutation SNP C C T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr18:13826399C>T uc010xaf.1 + 1 635 c.635C>T c.(634-636)GCG>GTG p.A212V NM_005913 NP_005904 P33032 MC5R_HUMAN melanocortin 5 receptor 212 Cytoplasmic (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding ovary(3)|lung(2)|breast(1) 6 TTCCTCCTGGCGCGGACTCAC 0.612 NA 23 315 0 0 0 0 DCC 1630 broad.mit.edu 37 18 50278466 50278466 + Missense_Mutation SNP A A C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr18:50278466A>C uc002lfe.1 + 2 721 c.134A>C c.(133-135)GAA>GCA p.E45A DCC_uc010xdr.1_5'UTR NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 45 Extracellular (Potential).|Ig-like C2-type 1. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TTCCTCTCAGAACCTTCTGAT 0.483 NA 3 31 0 0 0 0 KIAA1468 57614 broad.mit.edu 37 18 59928749 59928749 + Silent SNP A A G TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr18:59928749A>G uc002lil.2 + 16 2423 c.2208A>G c.(2206-2208)GGA>GGG p.G736G KIAA1468_uc002lik.1_Silent_p.G736G|KIAA1468_uc010xel.1_Silent_p.G736G|KIAA1468_uc002lim.2_Silent_p.G380G NM_020854 NP_065905 Q9P260 K1468_HUMAN hypothetical protein LOC57614 736 binding ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1) 6 Colorectal(73;0.186) TTCAGGAAGGAGAACATGGAC 0.393 NA 9 44 0 0 0 0 MAST3 23031 broad.mit.edu 37 19 18235532 18235532 + Silent SNP C C T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr19:18235532C>T uc002nhz.3 + 10 939 c.939C>T c.(937-939)GAC>GAT p.D313D NM_015016 NP_055831 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 313 ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity large_intestine(2)|ovary(2)|stomach(1) 5 TTAAGACTGACCTTCCACAGT 0.617 NA 4 35 0 0 0 0 RASGRP4 115727 broad.mit.edu 37 19 38912750 38912750 + Missense_Mutation SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr19:38912750G>A uc002oir.2 - 2 281 c.67C>T c.(67-69)CGG>TGG p.R23W RASGRP4_uc010efz.1_5'Flank|RASGRP4_uc010ega.1_5'Flank|RASGRP4_uc010xua.1_Missense_Mutation_p.R23W|RASGRP4_uc010xub.1_Missense_Mutation_p.R23W|RASGRP4_uc010xuc.1_Missense_Mutation_p.R23W|RASGRP4_uc010xud.1_Missense_Mutation_p.R23W|RASGRP4_uc010xue.1_Missense_Mutation_p.R23W|RASGRP4_uc010egb.2_Missense_Mutation_p.R23W NM_170604 NP_733749 Q8TDF6 GRP4_HUMAN RAS guanyl releasing protein 4 isoform a 23 activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|membrane fraction|plasma membrane|soluble fraction diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity pancreas(1)|lung(1)|skin(1) 3 all_cancers(60;4.21e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TGGCGGGGCCGGCCTCGCCCT 0.627 NA 20 33 0 0 0 0 MEGF8 1954 broad.mit.edu 37 19 42873017 42873017 + Silent SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr19:42873017G>A uc002otl.3 + 36 6938 c.6303G>A c.(6301-6303)GGG>GGA p.G2101G MEGF8_uc002otm.3_Silent_p.G1709G|MEGF8_uc002otn.3_5'Flank NM_001410 NP_001401 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 2168 Extracellular (Potential).|PSI 7. integral to membrane calcium ion binding|structural molecule activity ovary(1) 1 Prostate(69;0.00682) GGCGTCCGGGGGCCTCCTGGG 0.647 NA 36 63 0 0 0 0 ZNF227 7770 broad.mit.edu 37 19 44739552 44739552 + Silent SNP T T C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr19:44739552T>C uc002oyu.2 + 6 1174 c.969T>C c.(967-969)TCT>TCC p.S323S ZNF227_uc010xwu.1_Silent_p.S272S|ZNF227_uc002oyv.2_Silent_p.S323S|ZNF227_uc010xwv.1_Silent_p.S272S|ZNF227_uc010xww.1_Silent_p.S244S|ZNF227_uc002oyw.2_Silent_p.S295S|ZNF227_uc010ejh.2_Silent_p.S316S|ZNF235_uc002oyx.1_Intron NM_182490 NP_872296 Q86WZ6 ZN227_HUMAN zinc finger protein 227 323 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(69;0.0435) GAGAGAAGTCTTATAGATGCG 0.403 NA 7 72 0 0 0 0 ZNF229 7772 broad.mit.edu 37 19 44933969 44933969 + Silent SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr19:44933969G>A uc002oze.1 - 6 1421 c.987C>T c.(985-987)GGC>GGT p.G329G ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Silent_p.G323G NM_014518 NP_055333 Q9UJW7 ZN229_HUMAN zinc finger protein 229 329 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|pancreas(1) 4 Prostate(69;0.0352) TCTGTCTGACGCCCCGACCAC 0.507 NA 7 77 0 0 0 0 SAE1 10055 broad.mit.edu 37 19 47673077 47673077 + Missense_Mutation SNP G G C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr19:47673077G>C uc002pgc.2 + 6 686 c.630G>C c.(628-630)AAG>AAC p.K210N SAE1_uc002pgd.2_Missense_Mutation_p.K210N|SAE1_uc010ekx.2_Missense_Mutation_p.K210N|SAE1_uc010ekw.2_RNA|SAE1_uc010xyk.1_Missense_Mutation_p.K36N|SAE1_uc002pge.2_Missense_Mutation_p.K146N NM_016402 NP_057486 Q9UBE0 SAE1_HUMAN SubName: Full=SUMO-1 activating enzyme subunit 1, isoform CRA_b; SubName: Full=cDNA, FLJ96708, Homo sapiens SUMO-1 activating enzyme subunit 1 (SAE1), mRNA; 210 protein sumoylation|protein ubiquitination nucleus ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity ovary(1) 1 all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15) all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278) TTCCACAGAAGGTGGTCTTCT 0.463 NA 42 107 0 0 0 0 PPFIA3 8541 broad.mit.edu 37 19 49643025 49643025 + Missense_Mutation SNP G G C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr19:49643025G>C uc002pmr.2 + 17 2509 c.2177G>C c.(2176-2178)AGA>ACA p.R726T PPFIA3_uc010yai.1_RNA|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_Missense_Mutation_p.R594T NM_003660 NP_003651 O75145 LIPA3_HUMAN PTPRF interacting protein alpha 3 726 cell surface|cytoplasm protein binding lung(1) 1 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) CGTCTTGAGAGAATGACCCAG 0.652 NA 3 57 0 0 0 0 ZNF671 79891 broad.mit.edu 37 19 58234695 58234695 + Missense_Mutation SNP A A G TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr19:58234695A>G uc002qpz.3 - 2 251 c.152T>C c.(151-153)TTT>TCT p.F51S ZNF776_uc002qpx.2_Intron|ZNF671_uc010eug.2_5'UTR|ZNF671_uc010yhf.1_Intron NM_024833 NP_079109 Q8TAW3 ZN671_HUMAN zinc finger protein 671 51 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) CACATCCTCAAAGACCACACA 0.453 NA 33 128 0 0 0 0 MOGS 7841 broad.mit.edu 37 2 74688529 74688529 + Nonsense_Mutation SNP C C T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr2:74688529C>T uc010ffj.2 - 4 2550 c.2387G>A c.(2386-2388)TGG>TAG p.W796* MOGS_uc010ffh.2_Nonsense_Mutation_p.W521*|MOGS_uc010yrt.1_Nonsense_Mutation_p.W677*|MOGS_uc010ffi.2_Nonsense_Mutation_p.W690* NM_006302 NP_006293 Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase isoform 1 796 Lumenal (Potential). oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|membrane fraction mannosyl-oligosaccharide glucosidase activity 0 GTACTGGCGCCATACATTGCC 0.622 NA 10 80 0 0 0 0 FER1L5 90342 broad.mit.edu 37 2 97369275 97369275 + Missense_Mutation SNP A A G TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr2:97369275A>G uc010fia.2 + 50 5815 c.5815A>G c.(5815-5817)AGC>GGC p.S1939G FER1L5_uc002sws.3_Missense_Mutation_p.S648G|FER1L5_uc002swt.3_Missense_Mutation_p.S648G|FER1L5_uc010yus.1_Missense_Mutation_p.S647G NM_001113382 NP_001106853 A0AVI2 FR1L5_HUMAN fer-1-like 5 isoform 2 1939 integral to membrane ovary(1) 1 GGTGAAGATGAGCCTGGAGAT 0.572 NA 12 32 0 0 0 0 GPR39 2863 broad.mit.edu 37 2 133403103 133403103 + Missense_Mutation SNP A A T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr2:133403103A>T uc002ttl.2 + 2 1755 c.1286A>T c.(1285-1287)GAG>GTG p.E429V LYPD1_uc002ttm.3_3'UTR|LYPD1_uc002ttn.2_3'UTR|LYPD1_uc002tto.2_3'UTR NM_001508 NP_001499 O43194 GPR39_HUMAN G protein-coupled receptor 39 429 integral to plasma membrane G-protein coupled receptor activity|metal ion binding 0 TTGAGTCTCGAGTCACTAGAG 0.522 NA 15 62 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179404536 179404536 + Silent SNP T T C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr2:179404536T>C uc010zfg.1 - 301 90776 c.90552A>G c.(90550-90552)GCA>GCG p.A30184A uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.A23879A|TTN_uc010zfi.1_Silent_p.A23812A|TTN_uc010zfj.1_Silent_p.A23687A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 31111 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTCAGATGTTGCAATCATGG 0.443 NA 4 72 0 0 0 0 SLC19A3 80704 broad.mit.edu 37 2 228552279 228552279 + Missense_Mutation SNP T T C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr2:228552279T>C uc002vpi.2 - 6 1414 c.1325A>G c.(1324-1326)TAT>TGT p.Y442C SLC19A3_uc002vpj.2_RNA|SLC19A3_uc010zlv.1_Missense_Mutation_p.Y438C NM_025243 NP_079519 Q9BZV2 S19A3_HUMAN solute carrier family 19, member 3 442 Helical; (Potential). thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity ovary(2) 2 Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236) Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125) L-Cysteine(DB00151) ATAGCTCCCATAAACTAAAAA 0.348 NA 9 31 0 0 0 0 PDCD1 5133 broad.mit.edu 37 2 242793393 242793393 + Silent SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr2:242793393G>A uc002wcq.3 - 5 752 c.684C>T c.(682-684)TTC>TTT p.F228F PDCD1_uc010fzs.2_Silent_p.F107F|PDCD1_uc010fzt.2_RNA NM_005018 NP_005009 Q15116 PDCD1_HUMAN programmed cell death 1 precursor 228 Cytoplasmic (Potential). apoptosis|humoral immune response|multicellular organismal development|T cell costimulation integral to membrane protein tyrosine phosphatase activity|signal transducer activity ovary(1) 1 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219) CTCGCCACTGGAAATCCAGCT 0.622 NA 11 40 0 0 0 0 HAO1 54363 broad.mit.edu 37 20 7886819 7886819 + Missense_Mutation SNP C C T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr20:7886819C>T uc002wmw.1 - 4 727 c.703G>A c.(703-705)GCA>ACA p.A235T HAO1_uc010gbu.2_Missense_Mutation_p.A235T NM_017545 NP_060015 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase 1 235 FMN hydroxy acid dehydrogenase. cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity ovary(3) 3 ATGCCCTTTGCAACAATTGGC 0.383 NA 26 73 0 0 0 0 CDC45 8318 broad.mit.edu 37 22 19467525 19467525 + Missense_Mutation SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr22:19467525G>A uc002zpr.2 + 1 110 c.34G>A c.(34-36)GAG>AAG p.E12K UFD1L_uc002zpm.2_5'Flank|UFD1L_uc002zpo.2_5'Flank|UFD1L_uc011agy.1_5'Flank|UFD1L_uc002zpp.2_5'Flank|UFD1L_uc010grq.2_5'Flank|CDC45_uc011agz.1_Missense_Mutation_p.E12K|CDC45_uc011aha.1_Missense_Mutation_p.E12K|CDC45_uc002zps.2_Missense_Mutation_p.E12K|CDC45_uc002zpt.2_Missense_Mutation_p.E12K NM_003504 NP_003495 O75419 CDC45_HUMAN CDC45-like 12 DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle centrosome|nucleoplasm protein binding lung(1) 1 AGAGTTCTACGAGGTGGTCCA 0.692 NA 6 149 0 0 0 0 CDC45 8318 broad.mit.edu 37 22 19471460 19471460 + Missense_Mutation SNP G G A rs61752240 byFrequency TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr22:19471460G>A uc002zpr.2 + 5 494 c.418G>A c.(418-420)GAT>AAT p.D140N CDC45_uc011agz.1_Missense_Mutation_p.D135N|CDC45_uc011aha.1_Missense_Mutation_p.D140N|CDC45_uc002zps.2_Missense_Mutation_p.D140N|CDC45_uc002zpt.2_Missense_Mutation_p.D94N NM_003504 NP_003495 O75419 CDC45_HUMAN CDC45-like 140 DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle centrosome|nucleoplasm protein binding lung(1) 1 TGAAGAGGAGGATGAAGAGCA 0.433 NA 7 83 0 0 0 0 CACNA1I 8911 broad.mit.edu 37 22 40066099 40066099 + Silent SNP C C A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr22:40066099C>A uc003ayc.2 + 25 4251 c.4251C>A c.(4249-4251)ATC>ATA p.I1417I CACNA1I_uc003ayd.2_Silent_p.I1382I|CACNA1I_uc003aye.2_Silent_p.I1332I|CACNA1I_uc003ayf.2_Silent_p.I1297I NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, 1417 Helical; Name=S6 of repeat III; (Potential).|III. axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(1)|central_nervous_system(1) 2 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) TCCTGCTCATCGTCAGCTTCT 0.582 NA 17 316 5.39e-06 1.34e-05 1 0 FAM118A 55007 broad.mit.edu 37 22 45728337 45728337 + Missense_Mutation SNP C C G TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr22:45728337C>G uc003bfz.3 + 7 1299 c.683C>G c.(682-684)TCC>TGC p.S228C FAM118A_uc003bga.3_Missense_Mutation_p.S228C|FAM118A_uc011aqr.1_Missense_Mutation_p.S46C NM_001104595 NP_001098065 Q9NWS6 F118A_HUMAN hypothetical protein LOC55007 228 integral to membrane 0 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) CGCACCAAGTCCTTTCTGTTT 0.463 NA 13 188 0 0 0 0 TTLL8 164714 broad.mit.edu 37 22 50470327 50470327 + Missense_Mutation SNP C C T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr22:50470327C>T uc011ark.1 - 11 1495 c.1495G>A c.(1495-1497)GAG>AAG p.E499K NM_001080447 NP_001073916 tubulin tyrosine ligase-like family, member 8 ovary(2) 2 all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162) READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226) TTGCGAGGCTCCACGTGGTCC 0.637 NA 6 40 0 0 0 0 ARPP21 10777 broad.mit.edu 37 3 35732405 35732405 + Silent SNP T T A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr3:35732405T>A uc003cgb.2 + 9 858 c.594T>A c.(592-594)CTT>CTA p.L198L ARPP21_uc003cga.2_Silent_p.L198L|ARPP21_uc011axy.1_Silent_p.L198L|ARPP21_uc003cgf.2_Silent_p.L34L NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN cyclic AMP-regulated phosphoprotein, 21 kD 198 R3H. cytoplasm nucleic acid binding ovary(2)|skin(1) 3 AGAGGATGCTTGTCCATCGAG 0.383 NA 7 54 0 0 0 0 SCN11A 11280 broad.mit.edu 37 3 38936227 38936227 + Missense_Mutation SNP T T C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr3:38936227T>C uc011ays.1 - 15 2831 c.2632A>G c.(2632-2634)AAA>GAA p.K878E SCN11A_uc010hhn.1_5'UTR NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 878 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 9 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) ATGATGTCTTTGCTTTGTGCA 0.502 NA 14 83 0 0 0 0 ROBO1 6091 broad.mit.edu 37 3 78700882 78700882 + Missense_Mutation SNP C C T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr3:78700882C>T uc003dqe.2 - 19 3020 c.2812G>A c.(2812-2814)GTC>ATC p.V938I ROBO1_uc003dqb.2_Missense_Mutation_p.V899I|ROBO1_uc003dqc.2_Missense_Mutation_p.V902I|ROBO1_uc003dqd.2_Missense_Mutation_p.V902I|ROBO1_uc010hoh.2_Missense_Mutation_p.V130I|ROBO1_uc011bgl.1_Missense_Mutation_p.V510I NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN roundabout 1 isoform a 938 Cytoplasmic (Potential). activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding large_intestine(2) 2 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) AAGCTAATACCTTTTCTGATA 0.363 NA 9 25 0 0 0 0 ABI3BP 25890 broad.mit.edu 37 3 100489651 100489651 + Silent SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr3:100489651G>A uc003dun.2 - 29 2629 c.2544C>T c.(2542-2544)ACC>ACT p.T848T ABI3BP_uc003duj.2_Silent_p.T428T|ABI3BP_uc003duk.2_Silent_p.T557T|ABI3BP_uc003dul.2_Silent_p.T678T|ABI3BP_uc011bhd.1_Silent_p.T802T|ABI3BP_uc003dum.2_Silent_p.T259T NM_015429 NP_056244 Q7Z7G0 TARSH_HUMAN ABI gene family, member 3 (NESH) binding protein 848 Fibronectin type-III 2. extracellular space ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1) 4 ACCCTTCCACGGTGACCACAG 0.537 NA 18 139 0 0 0 0 SI 6476 broad.mit.edu 37 3 164758751 164758751 + Silent SNP T T G TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr3:164758751T>G uc003fei.2 - 18 2198 c.2136A>C c.(2134-2136)ACA>ACC p.T712T NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 712 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GTCTTGCTACTGTTTCTCCAA 0.338 NA HNSCC(35;0.089) 6 129 0 0 0 0 IDUA 3425 broad.mit.edu 37 4 995285 995285 + Missense_Mutation SNP T T C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr4:995285T>C uc003gby.2 + 5 611 c.523T>C c.(523-525)TGG>CGG p.W175R IDUA_uc003gbz.2_RNA|IDUA_uc003gca.2_Missense_Mutation_p.W128R NM_000203 NP_000194 P35475 IDUA_HUMAN alpha-L-iduronidase precursor 175 disaccharide metabolic process lysosome cation binding|L-iduronidase activity 0 OV - Ovarian serous cystadenocarcinoma(23;0.0158) Laronidase(DB00090) TGTTTCCAAGTGGAACTTCGA 0.602 NA 20 80 0 0 0 0 FRYL 285527 broad.mit.edu 37 4 48523117 48523117 + Missense_Mutation SNP T T C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr4:48523117T>C uc003gyh.1 - 55 8242 c.7637A>G c.(7636-7638)GAG>GGG p.E2546G FRYL_uc003gyf.1_5'Flank|FRYL_uc003gyg.1_Missense_Mutation_p.E1242G|FRYL_uc003gyi.1_Missense_Mutation_p.E1434G|FRYL_uc003gyj.1_Missense_Mutation_p.E841G NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 2546 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 AGTTGGGGTCTCATCCCTGAT 0.502 NA 7 69 0 0 0 0 EPHA5 2044 broad.mit.edu 37 4 66270095 66270095 + Missense_Mutation SNP C C T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr4:66270095C>T uc003hcy.2 - 8 1980 c.1787G>A c.(1786-1788)GGA>GAA p.G596E EPHA5_uc003hcx.2_Missense_Mutation_p.G528E|EPHA5_uc003hcz.2_Missense_Mutation_p.G596E|EPHA5_uc011cah.1_Missense_Mutation_p.G597E|EPHA5_uc011cai.1_Missense_Mutation_p.G597E|EPHA5_uc003hda.2_Missense_Mutation_p.G597E NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 596 Cytoplasmic (Potential). cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 CTCTTACCTTCCACTGAGGAG 0.483 NA TSP Lung(17;0.13) 5 31 0 0 0 0 FRAS1 80144 broad.mit.edu 37 4 79460498 79460498 + Missense_Mutation SNP T T A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr4:79460498T>A uc003hlb.2 + 73 11789 c.11349T>A c.(11347-11349)TTT>TTA p.F3783L NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3778 Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 ATGTGCCTTTTGAGGCTCACT 0.418 NA 5 133 0 0 0 0 POU4F2 5458 broad.mit.edu 37 4 147560466 147560466 + Silent SNP C C T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr4:147560466C>T uc003ikv.2 + 1 422 c.174C>T c.(172-174)GGC>GGT p.G58G NM_004575 NP_004566 Q12837 PO4F2_HUMAN Brn3b POU domain transcription factor 58 Poly-Gly. estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription breast(1) 1 all_hematologic(180;0.151) gtggcggcggcggcggcggcg 0.383 NA 6 8 0 0 0 0 ARHGAP10 79658 broad.mit.edu 37 4 148800393 148800393 + Silent SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr4:148800393G>A uc003ilf.2 + 9 843 c.843G>A c.(841-843)CCG>CCA p.P281P ARHGAP10_uc003ilg.2_5'Flank NM_024605 NP_078881 A1A4S6 RHG10_HUMAN Rho GTPase activating protein 10 281 PH. apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm|plasma membrane cytoskeletal adaptor activity|SH3 domain binding skin(2)|pancreas(1)|lung(1) 4 all_hematologic(180;0.151) Renal(17;0.0166) GBM - Glioblastoma multiforme(119;0.0423) GGCCTGCTCCGTTTGGTTCCA 0.388 NA 9 66 0 0 0 0 NPY2R 4887 broad.mit.edu 37 4 156136041 156136041 + Missense_Mutation SNP C C T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr4:156136041C>T uc003ioq.2 + 2 1445 c.950C>T c.(949-951)TCC>TTC p.S317F NPY2R_uc003ior.2_Missense_Mutation_p.S317F NM_000910 NP_000901 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 317 Helical; Name=7; (Potential). cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity lung(2)|skin(1) 3 all_hematologic(180;0.24) Renal(120;0.0854) GCCATGTGCTCCACTTTTGCC 0.527 NA 34 57 0 0 0 0 TPPP 11076 broad.mit.edu 37 5 665268 665268 + Silent SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr5:665268G>A uc003jbg.3 - 3 1327 c.609C>T c.(607-609)TCC>TCT p.S203S TPPP_uc003jbh.3_Silent_p.S203S NM_007030 NP_008961 O94811 TPPP_HUMAN tubulin polymerization promoting protein 203 microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization nucleus|perinuclear region of cytoplasm|soluble fraction calcium ion binding|microtubule binding 0 Ovarian(839;0.0563) Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) GBM - Glioblastoma multiforme(108;0.0191) GCTTGTAGCCGGACACATAGC 0.657 NA 4 151 0 0 0 0 DNAH5 1767 broad.mit.edu 37 5 13841092 13841092 + Silent SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr5:13841092G>A uc003jfd.2 - 34 5674 c.5632C>T c.(5632-5634)CTG>TTG p.L1878L NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1878 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) GTGGAACTCAGATCCCTCGTG 0.398 NA Kartagener_syndrome 14 194 0 0 0 0 WDR70 55100 broad.mit.edu 37 5 37480070 37480070 + Missense_Mutation SNP T T C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr5:37480070T>C uc003jkv.2 + 8 879 c.821T>C c.(820-822)GTG>GCG p.V274A WDR70_uc010iva.1_Missense_Mutation_p.V274A NM_018034 NP_060504 Q9NW82 WDR70_HUMAN WD repeat domain 70 274 ovary(1)|central_nervous_system(1) 2 all_lung(31;0.000285) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CAGTATATTGTGGACATGGCC 0.318 NA 4 140 0 0 0 0 PTGER4 5734 broad.mit.edu 37 5 40681848 40681848 + Silent SNP C C G TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr5:40681848C>G uc003jlz.2 + 2 1345 c.753C>G c.(751-753)CTC>CTG p.L251L NM_000958 NP_000949 P35408 PE2R4_HUMAN prostaglandin E receptor 4, subtype EP4 251 Cytoplasmic (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger|immune response integral to membrane|plasma membrane prostaglandin E receptor activity lung(2) 2 TGCCGCGCCTCAGCGACTTTC 0.721 NA 3 58 0 0 0 0 C6 729 broad.mit.edu 37 5 41159295 41159295 + Missense_Mutation SNP T T C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr5:41159295T>C uc003jmk.2 - 12 1955 c.1745A>G c.(1744-1746)AAG>AGG p.K582R C6_uc003jml.1_Missense_Mutation_p.K582R NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 582 TSP type-1 3. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding ovary(3)|central_nervous_system(2)|skin(2) 7 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TCTCGATCTCTTATAAGTAGC 0.507 NA 85 71 0 0 0 0 MAP1B 4131 broad.mit.edu 37 5 71493969 71493969 + Missense_Mutation SNP A A G TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr5:71493969A>G uc003kbw.3 + 5 5028 c.4787A>G c.(4786-4788)CAA>CGA p.Q1596R MAP1B_uc010iyw.1_Missense_Mutation_p.Q1613R|MAP1B_uc010iyx.1_Missense_Mutation_p.Q1470R|MAP1B_uc010iyy.1_Missense_Mutation_p.Q1470R NM_005909 NP_005900 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1596 microtubule|microtubule associated complex structural molecule activity large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) TCTGTTGTGCAAACACCTACC 0.468 NA 15 94 0 0 0 0 HOMER1 9456 broad.mit.edu 37 5 78752757 78752757 + Silent SNP A A G TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr5:78752757A>G uc003kfy.2 - 2 1193 c.90T>C c.(88-90)CAT>CAC p.H30H HOMER1_uc010jab.2_Silent_p.H30H|HOMER1_uc010jac.2_Silent_p.H30H|HOMER1_uc010jad.2_Intron NM_004272 NP_004263 Q86YM7 HOME1_HUMAN homer 1 30 WH1. activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane 0 Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36) CAGTAACTGCATGCTTGCTGG 0.418 NA 11 128 0 0 0 0 FBN2 2201 broad.mit.edu 37 5 127800510 127800510 + Missense_Mutation SNP G G A rs146941428 TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr5:127800510G>A uc003kuu.2 - 6 1172 c.733C>T c.(733-735)CGG>TGG p.R245W FBN2_uc003kuv.2_Missense_Mutation_p.R212W|FBN2_uc003kuw.3_Missense_Mutation_p.R245W|FBN2_uc003kux.1_Missense_Mutation_p.R245W NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 245 TB 1. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CCCCACGCCCGTCCAATGGTG 0.607 NA 6 75 0 0 0 0 PCDHA6 56142 broad.mit.edu 37 5 140208448 140208448 + Missense_Mutation SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr5:140208448G>A uc003lho.2 + 1 799 c.772G>A c.(772-774)GGA>AGA p.G258R PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Missense_Mutation_p.G258R|PCDHA6_uc011dab.1_Missense_Mutation_p.G258R NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 258 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCAGACAACGGAACAACAGT 0.423 NA 11 54 0 0 0 0 DIAPH1 1729 broad.mit.edu 37 5 140957813 140957813 + Missense_Mutation SNP T T A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr5:140957813T>A uc003llb.3 - 11 1283 c.1142A>T c.(1141-1143)GAT>GTT p.D381V DIAPH1_uc003llc.3_Missense_Mutation_p.D372V NM_005219 NP_005210 O60610 DIAP1_HUMAN diaphanous 1 isoform 1 381 GBD/FH3. regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane actin binding|receptor binding|Rho GTPase binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGAATGTCATCCAGCCGTCC 0.433 NA 17 67 0 0 0 0 AFAP1L1 134265 broad.mit.edu 37 5 148679114 148679114 + Missense_Mutation SNP T T A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr5:148679114T>A uc003lqh.2 + 2 190 c.59T>A c.(58-60)CTC>CAC p.L20H AFAP1L1_uc003lqg.3_Missense_Mutation_p.L20H|AFAP1L1_uc010jgy.2_Missense_Mutation_p.L20H NM_152406 NP_689619 Q8TED9 AF1L1_HUMAN actin filament associated protein 1-like 1 20 protein binding breast(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGCTCAGCCTCCTGGACCAC 0.642 NA 8 35 0 0 0 0 ZNF300 91975 broad.mit.edu 37 5 150275862 150275862 + Silent SNP A A G TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr5:150275862A>G uc003lsy.1 - 6 1206 c.939T>C c.(937-939)GTT>GTC p.V313V IRGM_uc011dcl.1_Intron NM_052860 NP_443092 Q96RE9 ZN300_HUMAN zinc finger protein 300 313 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 Medulloblastoma(196;0.109)|all_hematologic(541;0.131) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCTGATGTACAACAAGATGAA 0.388 NA 12 102 0 0 0 0 SCAND3 114821 broad.mit.edu 37 6 28554347 28554347 + Missense_Mutation SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr6:28554347G>A uc003nlo.2 - 1 766 c.148C>T c.(148-150)CTC>TTC p.L50F uc003nlp.1_5'Flank NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 50 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity ovary(1) 1 TGACGAGAGAGTTCCCTGGTA 0.507 NA 35 58 0 0 0 0 TAF8 129685 broad.mit.edu 37 6 42036251 42036251 + Missense_Mutation SNP C C A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr6:42036251C>A uc003ors.2 + 7 715 c.686C>A c.(685-687)CCG>CAG p.P229Q TAF8_uc003ort.2_Missense_Mutation_p.P229Q|TAF8_uc003oru.1_Missense_Mutation_p.P229Q|TAF8_uc003orv.1_Missense_Mutation_p.P229Q|TAF8_uc011dun.1_Missense_Mutation_p.P153Q NM_138572 NP_612639 Q7Z7C8 TAF8_HUMAN TBP-associated factor 8 229 cell differentiation|maintenance of protein location in nucleus|positive regulation of transcription, DNA-dependent|regulation of fat cell differentiation|transcription, DNA-dependent perinuclear region of cytoplasm|transcription factor TFIID complex DNA binding|protein binding ovary(1) 1 Colorectal(47;0.196) STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179) GCTCTTCTTCCGTCTGAACTG 0.512 NA 6 261 0.00198382 0.00473282 1 0 TCTE1 202500 broad.mit.edu 37 6 44247948 44247948 + Silent SNP A A T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr6:44247948A>T uc003oxi.2 - 5 1632 c.1476T>A c.(1474-1476)ACT>ACA p.T492T SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron NM_182539 NP_872345 Q5JU00 TCTE1_HUMAN t-complex-associated testis expressed 1 492 ovary(2)|skin(2) 4 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GGCCATTGGCAGTTATGGTTG 0.577 NA 22 120 0 0 0 0 IBTK 25998 broad.mit.edu 37 6 82950154 82950154 + Missense_Mutation SNP T T C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr6:82950154T>C uc003pjl.1 - 2 577 c.50A>G c.(49-51)CAT>CGT p.H17R IBTK_uc011dyv.1_Missense_Mutation_p.H17R|IBTK_uc011dyw.1_Missense_Mutation_p.H17R|IBTK_uc010kbi.1_5'UTR|IBTK_uc003pjm.2_Missense_Mutation_p.H17R NM_015525 NP_056340 Q9P2D0 IBTK_HUMAN inhibitor of Bruton's tyrosine kinase 17 negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol cytoplasm|membrane|nucleus protein kinase binding|protein tyrosine kinase inhibitor activity ovary(2)|central_nervous_system(2) 4 all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037) BRCA - Breast invasive adenocarcinoma(397;0.0901) ATCCAAAGCATGCTTCAGGGA 0.408 NA 13 130 0 0 0 0 GPRC6A 222545 broad.mit.edu 37 6 117127648 117127648 + Missense_Mutation SNP G G T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr6:117127648G>T uc003pxj.1 - 3 1242 c.1220C>A c.(1219-1221)GCT>GAT p.A407D GPRC6A_uc003pxk.1_Intron|GPRC6A_uc003pxl.1_Missense_Mutation_p.A407D NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, 407 Extracellular (Potential). response to amino acid stimulus G-protein coupled receptor activity ovary(4)|skin(2) 6 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) TCCTGGCTCAGCATAGTCCCA 0.463 NA 7 51 0.00307968 0.00730549 1 0 HIVEP2 3097 broad.mit.edu 37 6 143093537 143093537 + Missense_Mutation SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr6:143093537G>A uc003qjd.2 - 5 3082 c.2339C>T c.(2338-2340)GCC>GTC p.A780V NM_006734 NP_006725 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer 780 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) TGAATCAATGGCTGAAGGTGA 0.512 NA 13 64 0 0 0 0 PLEKHG1 57480 broad.mit.edu 37 6 151121855 151121855 + Silent SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr6:151121855G>A uc003qny.1 + 7 942 c.630G>A c.(628-630)AGG>AGA p.R210R PLEKHG1_uc011eel.1_Silent_p.R250R|PLEKHG1_uc011eem.1_Silent_p.R269R|PLEKHG1_uc003qnz.2_Silent_p.R210R NM_001029884 NP_001025055 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G 210 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) CTTCCTGCAGGTCCGTGGCTG 0.428 NA 6 55 0 0 0 0 CYTH3 9265 broad.mit.edu 37 7 6213353 6213353 + Missense_Mutation SNP T T C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr7:6213353T>C uc003spt.2 - 6 484 c.380A>G c.(379-381)AAT>AGT p.N127S CYTH3_uc011jws.1_5'Flank NM_004227 NP_004218 O43739 CYH3_HUMAN cytohesin 3 127 SEC7. regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport cytoplasm|membrane fraction|plasma membrane 1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity 0 AACTTTAATATTAAATTCATC 0.323 NA 21 30 0 0 0 0 ZNF479 90827 broad.mit.edu 37 7 57188428 57188428 + Nonsense_Mutation SNP T T A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr7:57188428T>A uc010kzo.2 - 5 965 c.694A>T c.(694-696)AAA>TAA p.K232* NM_033273 NP_150376 Q96JC4 ZN479_HUMAN zinc finger protein 479 232 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(1) 4 GBM - Glioblastoma multiforme(1;9.18e-12) TGAATTATTTTATGTGTAGTA 0.383 NA 5 25 0 0 0 0 LIMK1 3984 broad.mit.edu 37 7 73535347 73535347 + Silent SNP C C T rs55722104 TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr7:73535347C>T uc003uaa.1 + 15 1914 c.1749C>T c.(1747-1749)ACC>ACT p.T583T RFC2_uc011kfa.1_Intron|LIMK1_uc010lbl.1_RNA|LIMK1_uc003uab.2_Silent_p.T549T NM_002314 NP_002305 P53667 LIMK1_HUMAN LIM domain kinase 1 583 Protein kinase. actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction cytosol|growth cone|nucleus ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding stomach(2)|ovary(1) 3 Lung NSC(55;0.137) TCCCCATCACCGTGCGCTGTT 0.662 NA 41 189 0 0 0 0 GNAT3 346562 broad.mit.edu 37 7 80091818 80091818 + Silent SNP C C T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr7:80091818C>T uc011kgu.1 - 6 720 c.720G>A c.(718-720)GTG>GTA p.V240V CD36_uc003uhc.2_Intron NM_001102386 NP_001095856 A8MTJ3 GNAT3_HUMAN guanine nucleotide binding protein, alpha 240 detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity ovary(1) 1 TTAGACTTACCACTTCTTCGT 0.398 NA 14 93 0 0 0 0 CUX1 1523 broad.mit.edu 37 7 101844978 101844978 + Missense_Mutation SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr7:101844978G>A uc003uyx.3 + 18 2439 c.2401G>A c.(2401-2403)GAT>AAT p.D801N CUX1_uc003uys.3_Missense_Mutation_p.D812N|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron NM_181552 NP_853530 P39880 CUX1_HUMAN cut-like homeobox 1 isoform a 801 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 GGGAGCAGCCGATTGTGCACA 0.672 NA 19 23 0 0 0 0 GPR124 25960 broad.mit.edu 37 8 37699033 37699033 + Silent SNP C C T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr8:37699033C>T uc003xkj.2 + 19 3540 c.3177C>T c.(3175-3177)TCC>TCT p.S1059S GPR124_uc010lvy.2_Silent_p.S842S NM_032777 NP_116166 Q96PE1 GP124_HUMAN G protein-coupled receptor 124 precursor 1059 Helical; Name=7; (Potential). central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity large_intestine(2)|ovary(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) TGGCAGCCTCCGCCCTGGGCC 0.647 NA 5 28 0 0 0 0 RP1 6101 broad.mit.edu 37 8 55533931 55533931 + Silent SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr8:55533931G>A uc003xsd.1 + 2 553 c.405G>A c.(403-405)GCG>GCA p.A135A RP1_uc011ldy.1_Silent_p.A135A NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 135 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding p.A135V(1) skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CCATTAGCGCGCACTCACCGC 0.692 NA 5 92 0 0 0 0 RUNX1T1 862 broad.mit.edu 37 8 92972688 92972688 + Nonsense_Mutation SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr8:92972688G>A uc003yfd.2 - 11 1681 c.1597C>T c.(1597-1599)CGA>TGA p.R533* RUNX1T1_uc003yfc.1_Nonsense_Mutation_p.R506*|RUNX1T1_uc003yfe.1_Nonsense_Mutation_p.R496*|RUNX1T1_uc010mao.2_Nonsense_Mutation_p.R506*|RUNX1T1_uc011lgi.1_Nonsense_Mutation_p.R544*|uc010mam.2_5'Flank|RUNX1T1_uc010man.1_Nonsense_Mutation_p.R158*|RUNX1T1_uc003yfb.1_Nonsense_Mutation_p.R496* NM_175634 NP_783552 Q06455 MTG8_HUMAN acute myelogenous leukemia 1 translocation 1 533 MYND-type. generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1) 16 BRCA - Breast invasive adenocarcinoma(11;0.0141) CCACAGTATCGGGCTGTGTTA 0.517 NA 30 48 0 0 0 0 TM7SF4 81501 broad.mit.edu 37 8 105361565 105361565 + Missense_Mutation SNP A A T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr8:105361565A>T uc003ylx.1 + 2 834 c.785A>T c.(784-786)CAG>CTG p.Q262L NM_030788 NP_110415 Q9H295 TM7S4_HUMAN dendritic cell-specific transmembrane protein 262 osteoclast differentiation cell surface|integral to membrane|plasma membrane pancreas(2)|large_intestine(1)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) AGACATCAACAGAGGCCCTGT 0.468 NA 13 93 0 0 0 0 ANGPT1 284 broad.mit.edu 37 8 108264120 108264120 + Missense_Mutation SNP C C T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr8:108264120C>T uc003ymn.2 - 9 1928 c.1460G>A c.(1459-1461)CGT>CAT p.R487H ANGPT1_uc011lhv.1_Missense_Mutation_p.R287H|ANGPT1_uc003ymo.2_Missense_Mutation_p.R486H NM_001146 NP_001137 Q15389 ANGP1_HUMAN angiopoietin 1 precursor 487 Fibrinogen C-terminal. activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding ovary(3)|skin(3)|upper_aerodigestive_tract(1) 7 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) AGTTGTGGAACGTAAGGAGTA 0.428 NA 7 147 0 0 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110455268 110455268 + Missense_Mutation SNP T T C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr8:110455268T>C uc003yne.2 + 36 4591 c.4487T>C c.(4486-4488)ATT>ACT p.I1496T NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 1496 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) CAAGGAGTCATTAATGTTTTA 0.418 NA HNSCC(38;0.096) 36 210 0 0 0 0 ADCY8 114 broad.mit.edu 37 8 131880107 131880107 + Missense_Mutation SNP A A G TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr8:131880107A>G uc003ytd.3 - 9 2451 c.2195T>C c.(2194-2196)TTG>TCG p.L732S ADCY8_uc010mds.2_Intron NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 732 Helical; (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|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) AGAAGGAAGCAAACTTTGTAT 0.343 NA HNSCC(32;0.087) 5 44 0 0 0 0 FAM75A6 389730 broad.mit.edu 37 9 43627396 43627396 + Missense_Mutation SNP C C T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr9:43627396C>T uc011lrb.1 - 4 1320 c.1291G>A c.(1291-1293)GCC>ACC p.A431T NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN hypothetical protein LOC389730 431 integral to membrane 0 GTTACCCAGGCGTTAGCCACC 0.488 NA 48 78 0 0 0 0 ROR2 4920 broad.mit.edu 37 9 94486931 94486931 + Silent SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr9:94486931G>A uc004arj.1 - 9 2044 c.1845C>T c.(1843-1845)GAC>GAT p.D615D ROR2_uc004ari.1_Silent_p.D475D NM_004560 NP_004551 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 615 Cytoplasmic (Potential).|Protein kinase. Proton acceptor (By similarity). negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1) 20 GGGTGGCCAGGTCCTTGTGAA 0.597 NA 16 105 0 0 0 0 OMD 4958 broad.mit.edu 37 9 95179448 95179448 + Missense_Mutation SNP C C G TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr9:95179448C>G uc004asd.3 - 2 762 c.393G>C c.(391-393)AAG>AAC p.K131N CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron NM_005014 NP_005005 Q99983 OMD_HUMAN osteomodulin precursor 131 cell adhesion proteinaceous extracellular matrix ovary(2) 2 CATAATCAATCTTTTGAGATT 0.328 NA T USP6 aneurysmal bone cysts 6 109 0 0 0 0 SMC2 10592 broad.mit.edu 37 9 106891994 106891994 + Silent SNP T T C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr9:106891994T>C uc004bbv.2 + 21 3147 c.2859T>C c.(2857-2859)AGT>AGC p.S953S SMC2_uc004bbw.2_Silent_p.S953S|SMC2_uc011lvl.1_Silent_p.S953S|SMC2_uc004bbx.2_Silent_p.S953S|SMC2_uc004bby.2_RNA NM_001042551 NP_001036016 O95347 SMC2_HUMAN structural maintenance of chromosomes 2 953 cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism condensin complex|cytoplasm|nuclear chromosome ATP binding|protein heterodimerization activity ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1) 9 AACCCAATAGTGCCTATGATT 0.378 NA 5 124 0 0 0 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112899866 112899866 + Missense_Mutation SNP A A T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr9:112899866A>T uc004bei.2 + 9 2930 c.2738A>T c.(2737-2739)GAT>GTT p.D913V PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.D681V|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.D681V|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.D491V|AKAP2_uc011lwi.1_Missense_Mutation_p.D539V|AKAP2_uc004bem.2_Missense_Mutation_p.D539V|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.D499V|AKAP2_uc011lwj.1_Missense_Mutation_p.D450V|PALM2-AKAP2_uc004ben.2_Missense_Mutation_p.D450V NM_001136562 NP_001130034 Q9Y2D5 AKAP2_HUMAN A kinase (PRKA) anchor protein 2 isoform 2 450 enzyme binding ovary(3)|central_nervous_system(2)|skin(1) 6 GTCAAGGATGATGACCATGGG 0.522 NA 84 87 0 0 0 0 NAP1L3 4675 broad.mit.edu 37 X 92927421 92927421 + Missense_Mutation SNP G G T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chrX:92927421G>T uc004efq.2 - 1 1188 c.883C>A c.(883-885)CTT>ATT p.L295I FAM133A_uc004efr.1_5'Flank NM_004538 NP_004529 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 295 nucleosome assembly chromatin assembly complex ovary(1)|skin(1) 2 GCTCTTTTAAGATCTACACTG 0.433 NA 32 19 7.17e-06 1.78e-05 1 0 MLL2 8085 broad.mit.edu 37 12 49440414 49440415 + Frame_Shift_Ins INS - - G TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr12:49440414_49440415insG uc001rta.3 - 15 4395_4396 c.4395_4396insC c.(4393-4398)CCCAAGfs p.P1465fs NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 1465_1466 Cys-rich.|PHD-type 4. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding p.K1193fs*25(1) kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 CAGCCGCCCTTGGGGACGGTGA 0.559 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 15 118 --- --- --- --- NA NA NA NA KLF5 688 broad.mit.edu 37 13 73636125 73636137 + Frame_Shift_Del DEL TTACCTTACAGTA TTACCTTACAGTA - rs143426593 TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr13:73636125_73636137delTTACCTTACAGTA uc001vje.2 + 2 712_724 c.388_400delTTACCTTACAGTA c.(388-402)TTACCTTACAGTATCfs p.L130fs KLF5_uc001vjd.2_Frame_Shift_Del_p.L39fs NM_001730 NP_001721 Q13887 KLF5_HUMAN Kruppel-like factor 5 130_134 transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1)|pancreas(1) 3 Prostate(6;0.00187)|Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.0011) CACTGAAGGGTTACCTTACAGTATCAACATGAA 0.474 NA 22 166 --- --- --- --- NA NA NA NA UNC13C 440279 broad.mit.edu 37 15 54305623 54305623 + Frame_Shift_Del DEL G G - TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr15:54305623delG uc002ack.2 + 1 523 c.523delG c.(523-525)GGCfs p.G175fs NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 175 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TACTCTACATGGCTTAAAACT 0.473 NA 26 87 --- --- --- --- NA NA NA NA TP53 7157 broad.mit.edu 37 17 7579579 7579579 + Frame_Shift_Del DEL C C - rs1800370 byFrequency TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr17:7579579delC uc002gim.2 - 4 302 c.108delG c.(106-108)CCGfs p.P36fs TP53_uc002gig.1_Frame_Shift_Del_p.P36fs|TP53_uc002gih.2_Frame_Shift_Del_p.P36fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Del_p.P36fs|TP53_uc010cni.1_Frame_Shift_Del_p.P36fs|TP53_uc002gij.2_Frame_Shift_Del_p.P36fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_5'UTR|TP53_uc010cnk.1_Frame_Shift_Del_p.P51fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 36 Transcription activation (acidic).|Interaction with HRMT1L2. P -> L (in a sporadic cancer; 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.0?(7)|p.?(1)|p.P36fs*7(1)|p.P13fs*18(1)|p.S33fs*23(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) TTGCTTGGGACGGCAAGGGGG 0.403 111 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) 76 131 --- --- --- --- NA NA NA NA TIGIT 201633 broad.mit.edu 37 3 114014456 114014456 + Frame_Shift_Del DEL C C - TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr3:114014456delC uc003ebg.1 + 2 160 c.126delC c.(124-126)ATCfs p.I42fs NM_173799 NP_776160 Q495A1 TIGIT_HUMAN T cell immunoreceptor with Ig and ITIM domains 42 Extracellular (Potential).|Ig-like V-type. negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production cell surface|integral to membrane|plasma membrane protein binding central_nervous_system(1) 1 GCTCTATCATCTTACAATGTC 0.522 NA 54 142 --- --- --- --- NA NA NA NA SLC4A4 8671 broad.mit.edu 37 4 72215646 72215646 + Frame_Shift_Del DEL A A - TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr4:72215646delA uc003hfy.2 + 5 524 c.407delA c.(406-408)GAAfs p.E136fs SLC4A4_uc010iic.2_Frame_Shift_Del_p.E136fs|SLC4A4_uc010iib.2_Frame_Shift_Del_p.E136fs|SLC4A4_uc003hfz.2_Frame_Shift_Del_p.E136fs|SLC4A4_uc003hgc.3_Frame_Shift_Del_p.E92fs|SLC4A4_uc003hga.2_Frame_Shift_Del_p.E14fs|SLC4A4_uc003hgb.3_Frame_Shift_Del_p.E92fs NM_001098484 NP_001091954 Q9Y6R1 S4A4_HUMAN solute carrier family 4, sodium bicarbonate 136 Cytoplasmic (Potential). basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|kidney(1)|skin(1) 5 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) AAGTTTGAAGAAAAAGTGGAA 0.438 NA 7 96 --- --- --- --- NA NA NA NA TNC 3371 broad.mit.edu 37 9 117797538 117797539 + Frame_Shift_Ins INS - - G rs148674204 byFrequency TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr9:117797538_117797539insG uc004bjj.3 - 22 6093_6094 c.5731_5732insC c.(5731-5733)CGGfs p.R1911fs TNC_uc010mvf.2_Frame_Shift_Ins_p.R1638fs NM_002160 NP_002151 P24821 TENA_HUMAN tenascin C precursor 1911 Fibronectin type-III 15. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 7 GACTGATGCCCGGGGGGGTCGC 0.475 NA 74 105 --- --- --- --- NA NA NA NA