Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut COL8A2 1296 broad.mit.edu 37 1 36564428 36564428 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:36564428G>T uc001bzv.1 - 2 861 c.854C>A c.(853-855)GCA>GAA p.A285E COL8A2_uc001bzw.1_Missense_Mutation_p.A220E NM_005202 NP_005193 P25067 CO8A2_HUMAN collagen, type VIII, alpha 2 precursor 285 Triple-helical region. angiogenesis|cell-cell adhesion|extracellular matrix organization basement membrane|collagen extracellular matrix structural constituent|protein binding, bridging central_nervous_system(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CAACCCTGCTGCCCCTGGGAC 0.692 NA 12 29 3.07112e-06 3.48613e-06 0.010729 1 0 AKR1A1 10327 broad.mit.edu 37 1 46033774 46033774 + Silent SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:46033774G>T uc001cod.2 + 6 941 c.477G>T c.(475-477)CTG>CTT p.L159L AKR1A1_uc001coe.2_Silent_p.L159L|AKR1A1_uc001cof.2_Missense_Mutation_p.W32L|AKR1A1_uc001cog.2_RNA NM_006066 NP_006057 P14550 AK1A1_HUMAN aldo-keto reductase family 1, member A1 159 glucose metabolic process alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding 0 Acute lymphoblastic leukemia(166;0.155) TGCAGGCGCTGGGCCTGTCCA 0.562 NA 4 27 0.00909568 0.00922114 0.009096 1 0 CYP4A11 1579 broad.mit.edu 37 1 47400757 47400757 + Silent SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:47400757G>T uc001cqp.3 - 6 756 c.705C>A c.(703-705)GCC>GCA p.A235A CYP4A11_uc001cqq.2_Silent_p.A235A|CYP4A11_uc010omm.1_Intron NM_000778 NP_000769 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, 235 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding ovary(2)|skin(2) 4 NADH(DB00157) TCTGGTGAAAGGCATTCCTCA 0.532 NA 26 87 4.72057e-08 5.71131e-08 0.003954 1 0 LRRC40 55631 broad.mit.edu 37 1 70611486 70611486 + Silent SNP A A C TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:70611486A>C uc001der.1 - 15 1858 c.1806T>G c.(1804-1806)ACT>ACG p.T602T NM_017768 NP_060238 Q9H9A6 LRC40_HUMAN leucine rich repeat containing 40 602 ovary(1) 1 CTCCATGTTAAGTAGGAATTC 0.358 NA 11 26 0 0 0.001855 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74507613 74507613 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:74507613C>A uc001dfy.3 - 7 1194 c.1002G>T c.(1000-1002)CAG>CAT p.Q334H LRRIQ3_uc001dfz.3_RNA NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 334 ovary(2) 2 CTTCAGACTCCTGACCTACAT 0.299 NA 9 16 0.000274275 0.000289021 0.004482 1 0 VAV3 10451 broad.mit.edu 37 1 108185324 108185324 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:108185324G>T uc001dvk.1 - 20 1885 c.1831C>A c.(1831-1833)CTG>ATG p.L611M VAV3_uc010ouu.1_Missense_Mutation_p.L15M|VAV3_uc001dvj.1_Missense_Mutation_p.L51M|VAV3_uc010ouv.1_Missense_Mutation_p.L15M|VAV3_uc010ouw.1_Missense_Mutation_p.L611M NM_006113 NP_006104 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor isoform 611 SH3 1. angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(5)|lung(2)|breast(2) 9 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) CCTTCATGCAGAGCTGGGGGT 0.433 NA 37 93 2.05212e-20 3.48742e-20 0.005524 1 0 FLG 2312 broad.mit.edu 37 1 152284875 152284876 + Nonsense_Mutation DNP GG GG TT rs139207952 byFrequency TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:152284875_152284876GG>TT uc001ezu.1 - 3 2522_2523 c.2486_2487CC>AA c.(2485-2487)TCC>TAA p.S829* uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 829 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGAGTGCCTGGAGTTGTCTCG 0.569 NA Ichthyosis 160 296 0 0 0.004672 0 0 LMNA 4000 broad.mit.edu 37 1 156084745 156084745 + Silent SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:156084745C>T uc001fni.2 + 1 285 c.36C>T c.(34-36)AGC>AGT p.S12S LMNA_uc001fnf.1_Silent_p.S12S|LMNA_uc001fng.2_Silent_p.S12S|LMNA_uc001fnh.2_Silent_p.S12S|LMNA_uc009wro.1_Silent_p.S12S NM_170707 NP_733821 P02545 LMNA_HUMAN lamin A/C isoform 1 precursor 12 Interaction with MLIP.|Head. cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration cytoplasm|lamin filament|nuclear envelope|nuclear envelope|perinuclear region of cytoplasm protein binding|structural molecule activity|structural molecule activity ovary(2) 2 Hepatocellular(266;0.158) CCACCCGCAGCGGGGCGCAGG 0.736 NA Werner_syndrome|Hutchinson-Gilford_Progeria_Syndrome 15 10 0 0 0.00499 0 0 CD1E 913 broad.mit.edu 37 1 158324171 158324171 + Silent SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:158324171C>A uc001fse.2 + 2 302 c.63C>A c.(61-63)CCC>CCA p.P21P CD1E_uc010pid.1_Silent_p.P19P|CD1E_uc010pie.1_Intron|CD1E_uc010pif.1_Intron|CD1E_uc001fsd.2_Silent_p.P21P|CD1E_uc001fsk.2_Silent_p.P21P|CD1E_uc001fsj.2_Silent_p.P21P|CD1E_uc001fsc.2_Intron|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Silent_p.P21P|CD1E_uc001fry.2_Silent_p.P21P|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Intron|CD1E_uc001fsi.2_Silent_p.P21P|CD1E_uc009wsv.2_Intron|CD1E_uc001frz.2_Silent_p.P21P|CD1E_uc009wsw.2_5'Flank NM_030893 NP_112155 P15812 CD1E_HUMAN CD1E antigen isoform a precursor 21 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen skin(3) 3 all_hematologic(112;0.0378) TCTCAGCTCCCCAGGCTCTAC 0.502 NA 94 98 1.76403e-45 3.22126e-45 0.00361 1 0 SPTA1 6708 broad.mit.edu 37 1 158605732 158605732 + Missense_Mutation SNP C C G TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:158605732C>G uc001fst.1 - 38 5602 c.5403G>C c.(5401-5403)TGG>TGC p.W1801C NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1801 Spectrin 17. 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) TGAGCTTCTCCCAGTGTTCAA 0.522 NA 108 86 0 0 0.00361 0 0 OR6K6 128371 broad.mit.edu 37 1 158725228 158725228 + Missense_Mutation SNP A A T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:158725228A>T uc001fsw.1 + 1 623 c.623A>T c.(622-624)GAT>GTT p.D208V NM_001005184 NP_001005184 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, 208 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_hematologic(112;0.0378) ATATTCTGTGATTTCACACCT 0.498 NA 16 81 0 0 0.003163 0 0 MNDA 4332 broad.mit.edu 37 1 158815601 158815601 + Silent SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:158815601C>A uc001fsz.1 + 5 995 c.795C>A c.(793-795)GTC>GTA p.V265V NM_002432 NP_002423 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 265 HIN-200. B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(2)|skin(2) 4 all_hematologic(112;0.0378) GGAAGAAGGTCATTACCATAT 0.353 NA 45 41 6.57855e-14 9.71906e-14 0.009718 1 0 OR10J1 26476 broad.mit.edu 37 1 159410229 159410229 + Silent SNP T T C TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:159410229T>C uc010piv.1 + 1 681 c.681T>C c.(679-681)TCT>TCC p.S227S uc001fts.3_Intron NM_012351 NP_036483 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, 227 Helical; Name=5; (Potential). sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0429) TTTTCATTTCTTATGTTCTCA 0.453 NA 36 139 0 0 0.004289 0 0 F5 2153 broad.mit.edu 37 1 169519078 169519078 + Silent SNP T T A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:169519078T>A uc001ggg.1 - 10 1717 c.1572A>T c.(1570-1572)CTA>CTT p.L524L F5_uc010plr.1_RNA NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 524 F5/8 type A 2.|Plastocyanin-like 3. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TCTTACAGATTAGAAGTAGTC 0.428 NA 18 89 0 0 0.008871 0 0 RGL1 23179 broad.mit.edu 37 1 183881336 183881336 + Silent SNP G G C TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:183881336G>C uc001gqo.2 + 15 1840 c.1683G>C c.(1681-1683)TCG>TCC p.S561S RGL1_uc010pof.1_Silent_p.S366S|RGL1_uc001gqm.2_Silent_p.S596S|RGL1_uc010pog.1_Silent_p.S559S|RGL1_uc010poh.1_Silent_p.S559S|RGL1_uc010poi.1_Silent_p.S532S NM_015149 NP_055964 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation 561 Ser-rich. cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity breast(5)|ovary(4)|lung(2) 11 CCTGCGAGTCGAACCACTCAG 0.532 NA 19 55 0 0 0.008871 0 0 C1orf25 81627 broad.mit.edu 37 1 185109211 185109211 + Nonsense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:185109211C>A uc001grf.3 - 8 1275 c.1003G>T c.(1003-1005)GAA>TAA p.E335* C1orf25_uc010pon.1_Nonsense_Mutation_p.E179* NM_030934 NP_112196 Q7Z2T5 TRM1L_HUMAN N2,N2-dimethylguanosine tRNA 335 intracellular RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding 0 TCACTCTTTTCCTTTTCCTTA 0.343 NA 24 117 1.85244e-09 2.38867e-09 0.00333 1 0 TMEM81 388730 broad.mit.edu 37 1 205053097 205053097 + Missense_Mutation SNP G G C rs145019132 byFrequency TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:205053097G>C uc001hbt.2 - 1 492 c.352C>G c.(352-354)CGG>GGG p.R118G NM_203376 NP_976310 Q6P7N7 TMM81_HUMAN transmembrane protein 81 precursor 118 Ig-like.|Extracellular (Potential). integral to membrane 0 all_cancers(21;0.144)|Breast(84;0.0437) BRCA - Breast invasive adenocarcinoma(75;0.0923) CAGGTGAACCGGAAAGCTTCC 0.468 NA 24 79 0 0 0.00333 0 0 DYRK3 8444 broad.mit.edu 37 1 206820932 206820932 + Missense_Mutation SNP A A G TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:206820932A>G uc001hej.2 + 3 557 c.389A>G c.(388-390)AAC>AGC p.N130S DYRK3_uc001hek.2_Intron|DYRK3_uc001hei.2_Missense_Mutation_p.N110S NM_003582 NP_003573 O43781 DYRK3_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 130 erythrocyte differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity stomach(2)|central_nervous_system(1) 3 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) GTAAAATCCAACAGTTCATCC 0.418 Melanoma(164;427 2622 26826 51707) NA 30 155 0 0 0.00632 0 0 USH2A 7399 broad.mit.edu 37 1 215960025 215960025 + Silent SNP C C A rs137963595 byFrequency TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:215960025C>A uc001hku.1 - 52 10761 c.10374G>T c.(10372-10374)ACG>ACT p.T3458T NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 3458 Fibronectin type-III 19.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TGTAAGAGTACGTGTTTACAC 0.433 NA HNSCC(13;0.011) 9 59 0.000274275 0.000289021 0.004482 1 0 EPHX1 2052 broad.mit.edu 37 1 226030140 226030140 + Silent SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:226030140G>T uc001hpk.2 + 7 1085 c.1005G>T c.(1003-1005)ACG>ACT p.T335T EPHX1_uc001hpl.2_Silent_p.T335T NM_001136018 NP_001129490 P07099 HYEP_HUMAN epoxide hydrolase 1 335 aromatic compound catabolic process|response to toxin endoplasmic reticulum membrane|integral to membrane|microsome cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity ovary(3)|lung(1) 4 Breast(184;0.197) GGACCAATACGGAATTCCGAT 0.582 NA 23 51 1.77063e-15 2.69723e-15 0.005443 1 0 URB2 9816 broad.mit.edu 37 1 229772385 229772385 + Silent SNP A A G TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:229772385A>G uc001hts.1 + 4 2161 c.2025A>G c.(2023-2025)GAA>GAG p.E675E URB2_uc009xfd.1_Silent_p.E675E NM_014777 NP_055592 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog 675 nucleolus central_nervous_system(2)|ovary(1) 3 ATTGCTTAGAACAGCTGTACC 0.433 NA 40 139 0 0 0.005524 0 0 RYR2 6262 broad.mit.edu 37 1 237802491 237802491 + Missense_Mutation SNP A A T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:237802491A>T uc001hyl.1 + 46 7225 c.7105A>T c.(7105-7107)AGT>TGT p.S2369C NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2369 Cytoplasmic (By similarity).|4 X approximate repeats. 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) TAGCGGATCCAGTAAAACACT 0.423 NA 8 24 0 0 0.004482 0 0 MAP1LC3C 440738 broad.mit.edu 37 1 242159549 242159549 + Silent SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:242159549G>T uc001hzk.2 - 4 435 c.360C>A c.(358-360)GCC>GCA p.A120A NM_001004343 NP_001004343 Q9BXW4 MLP3C_HUMAN microtubule-associated protein 1 light chain 3 120 autophagy autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(106;0.0188) TCTCCTGGGAGGCGTAGGTCA 0.567 NA 24 59 3.6726e-16 5.68287e-16 0.003954 1 0 ZNF695 57116 broad.mit.edu 37 1 247163244 247163244 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:247163244C>A uc009xgu.2 - 2 281 c.136G>T c.(136-138)GAT>TAT p.D46Y ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron|ZNF695_uc009xgt.1_RNA|ZNF695_uc001ibx.2_Missense_Mutation_p.D46Y|ZNF695_uc001iby.2_RNA|ZNF695_uc001icc.2_Intron NM_020394 NP_065127 Q8IW36 ZN695_HUMAN zinc finger protein SBZF3 46 KRAB. regulation of transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding 0 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) TTGAAGCTATCCTCACCAAGG 0.418 NA 10 46 3.07112e-06 3.48613e-06 0.010729 1 0 OR2M5 127059 broad.mit.edu 37 1 248308584 248308584 + Missense_Mutation SNP G G C TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:248308584G>C uc010pze.1 + 1 135 c.135G>C c.(133-135)ATG>ATC p.M45I NM_001004690 NP_001004690 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, 45 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|kidney(1) 3 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) ACTCTGTCATGGTTCTCCTCA 0.527 NA 96 223 0 0 0.00361 0 0 LARP4B 23185 broad.mit.edu 37 10 863720 863720 + Missense_Mutation SNP T T A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr10:863720T>A uc001ifs.1 - 14 1681 c.1640A>T c.(1639-1641)GAG>GTG p.E547V NM_015155 NP_055970 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 547 nucleotide binding|RNA binding ovary(2)|central_nervous_system(1) 3 AAACAAGTCCTCTGTCTTCAA 0.443 NA 57 174 0 0 0.00361 0 0 FAM171A1 221061 broad.mit.edu 37 10 15255495 15255495 + Missense_Mutation SNP C C G TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr10:15255495C>G uc001iob.2 - 8 2099 c.2092G>C c.(2092-2094)GGT>CGT p.G698R NM_001010924 NP_001010924 Q5VUB5 F1711_HUMAN hypothetical protein LOC221061 precursor 698 Cytoplasmic (Potential). integral to membrane ovary(2)|breast(1)|skin(1) 4 GGCTTCCCACCCCCAAGCTCC 0.582 NA 29 73 0 0 0.008361 0 0 KIAA1462 57608 broad.mit.edu 37 10 30336510 30336510 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr10:30336510C>A uc001iux.2 - 1 291 c.232G>T c.(232-234)GGC>TGC p.G78C KIAA1462_uc001iuy.2_Missense_Mutation_p.G78C|KIAA1462_uc001iuz.2_Translation_Start_Site|KIAA1462_uc009xle.1_Missense_Mutation_p.G78C NM_020848 NP_065899 Q9P266 K1462_HUMAN hypothetical protein LOC57608 78 ovary(4) 4 TCCCCGTGGCCTCTCGGTGTG 0.612 NA 8 52 0.000157383 0.000168871 0.00308 1 0 JMJD1C 221037 broad.mit.edu 37 10 64967073 64967073 + Silent SNP G G A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr10:64967073G>A uc001jmn.2 - 10 4656 c.4356C>T c.(4354-4356)ACC>ACT p.T1452T JMJD1C_uc001jml.2_Silent_p.T1233T|JMJD1C_uc001jmm.2_Silent_p.T1164T|JMJD1C_uc010qiq.1_Silent_p.T1270T|JMJD1C_uc009xpi.2_Silent_p.T1270T|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Silent_p.T489T NM_032776 NP_116165 Q15652 JHD2C_HUMAN jumonji domain containing 1C isoform a 1452 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding ovary(4)|breast(1)|central_nervous_system(1) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) CTGGTGCTGTGGTGCTGACCT 0.408 NA 44 101 0 0 0.011902 0 0 LDB3 11155 broad.mit.edu 37 10 88477783 88477783 + Missense_Mutation SNP G G C TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr10:88477783G>C uc001kdv.2 + 10 1762 c.1739G>C c.(1738-1740)TGC>TCC p.C580S LDB3_uc010qmm.1_Missense_Mutation_p.C585S|LDB3_uc001kdu.2_Missense_Mutation_p.C470S|LDB3_uc009xsz.2_Missense_Mutation_p.C209S|LDB3_uc009xta.1_5'Flank NM_007078 NP_009009 O75112 LDB3_HUMAN LIM domain binding 3 isoform 1 580 LIM zinc-binding 1. cytoskeleton|perinuclear region of cytoplasm|pseudopodium zinc ion binding ovary(1) 1 TGTGCCTACTGCAAGACTTCC 0.547 NA 26 64 0 0 0.003954 0 0 BTAF1 9044 broad.mit.edu 37 10 93743990 93743990 + Silent SNP G G T rs139800193 TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr10:93743990G>T uc001khr.2 + 19 2354 c.2256G>T c.(2254-2256)CCG>CCT p.P752P BTAF1_uc001khs.1_Silent_p.P422P|BTAF1_uc001kht.1_Silent_p.P190P NM_003972 NP_003963 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription 752 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.0846) CTGTGCAGCCGCGTTTACTTG 0.338 NA 10 37 7.48243e-07 8.695e-07 0.006214 1 0 KIF11 3832 broad.mit.edu 37 10 94381209 94381209 + Missense_Mutation SNP A A G TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr10:94381209A>G uc001kic.2 + 10 1504 c.1196A>G c.(1195-1197)TAT>TGT p.Y399C KIF11_uc010qnq.1_Intron NM_004523 NP_004514 P52732 KIF11_HUMAN kinesin family member 11 399 Potential. blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole ATP binding|microtubule motor activity|protein kinase binding skin(1) 1 AATGGAGTGTATATTTCTGAA 0.373 Colon(47;212 1003 2764 4062 8431) NA 24 65 0 0 0.003954 0 0 CYP2C19 1557 broad.mit.edu 37 10 96522526 96522526 + Nonsense_Mutation SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr10:96522526C>T uc010qnz.1 + 1 64 c.64C>T c.(64-66)CAG>TAG p.Q22* CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.1_Intron NM_000769 NP_000760 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, 22 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity ovary(4)|central_nervous_system(1)|skin(1) 6 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) AATCTGGAGACAGAGCTCTGG 0.458 NA 56 121 0 0 0.00361 0 0 HPSE2 60495 broad.mit.edu 37 10 100219443 100219443 + Missense_Mutation SNP G G T rs138866975 TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr10:100219443G>T uc001kpn.1 - 12 1727 c.1667C>A c.(1666-1668)CCA>CAA p.P556Q HPSE2_uc009xwc.1_3'UTR|HPSE2_uc001kpo.1_Missense_Mutation_p.P488Q|HPSE2_uc009xwd.1_Missense_Mutation_p.P434Q NM_021828 NP_068600 Q8WWQ2 HPSE2_HUMAN heparanase 2 556 carbohydrate metabolic process intracellular|membrane cation binding|heparanase activity ovary(1) 1 Epithelial(162;1.8e-09)|all cancers(201;4.72e-07) CTTCAATTCTGGGAGGGTCCC 0.537 NA 11 19 3.86212e-05 4.2368e-05 0.008291 1 0 PNLIPRP3 119548 broad.mit.edu 37 10 118196292 118196292 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr10:118196292C>A uc001lcl.3 + 2 220 c.119C>A c.(118-120)ACA>AAA p.T40K NM_001011709 NP_001011709 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 precursor 40 lipid catabolic process extracellular region triglyceride lipase activity ovary(1) 1 all cancers(201;0.0131) ACTTTCTCAACAGAGTTGGTA 0.433 NA 22 67 1.36565e-18 2.23055e-18 0.00278 1 0 GRK5 2869 broad.mit.edu 37 10 121196210 121196210 + Silent SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr10:121196210C>A uc001led.2 + 9 1019 c.786C>A c.(784-786)GTC>GTA p.V262V GRK5_uc009xzh.2_Silent_p.V157V|GRK5_uc010qta.1_Silent_p.V157V NM_005308 NP_005299 P34947 GRK5_HUMAN G protein-coupled receptor kinase 5 262 Protein kinase. G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway cytoplasm|plasma membrane|soluble fraction ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity lung(2)|stomach(1) 3 Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249) all cancers(201;0.0227) TGTGCTTGGTCCTGACCATCA 0.552 NA 14 39 3.27435e-08 3.97793e-08 0.00245 1 0 GLRX3 10539 broad.mit.edu 37 10 131965194 131965194 + Silent SNP A A G TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr10:131965194A>G uc001lkm.1 + 6 685 c.663A>G c.(661-663)GCA>GCG p.A221A GLRX3_uc001lkn.1_Silent_p.A221A|GLRX3_uc001lko.2_RNA NM_006541 NP_006532 O76003 GLRX3_HUMAN glutaredoxin 3 221 Glutaredoxin 1. cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction cell cortex electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity 0 all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222) OV - Ovarian serous cystadenocarcinoma(35;0.00218) AGCTAGAAGCATCTGAAGAAC 0.289 NA 12 27 0 0 0.001368 0 0 OR52E2 119678 broad.mit.edu 37 11 5080461 5080461 + Nonsense_Mutation SNP G G A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr11:5080461G>A uc010qyw.1 - 1 397 c.397C>T c.(397-399)CAA>TAA p.Q133* NM_001005164 NP_001005164 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, 133 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) GCGCTATATTGGAGTGGATTG 0.433 NA 9 35 0 0 0.006214 0 0 MICAL2 9645 broad.mit.edu 37 11 12183922 12183922 + Missense_Mutation SNP T T C TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr11:12183922T>C uc001mjz.2 + 3 508 c.220T>C c.(220-222)TCC>CCC p.S74P MICAL2_uc010rch.1_Missense_Mutation_p.S74P|MICAL2_uc001mjy.2_Missense_Mutation_p.S74P|MICAL2_uc001mka.2_Missense_Mutation_p.S74P|MICAL2_uc010rci.1_Missense_Mutation_p.S74P|MICAL2_uc001mkb.2_Missense_Mutation_p.S74P|MICAL2_uc001mkc.2_Missense_Mutation_p.S74P NM_014632 NP_055447 O94851 MICA2_HUMAN microtubule associated monoxygenase, calponin 74 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding upper_aerodigestive_tract(2) 2 Epithelial(150;0.00552) TAAGCGTGGTTCCCACAAAGA 0.507 NA 11 28 0 0 0.008291 0 0 FAR1 84188 broad.mit.edu 37 11 13722001 13722001 + Silent SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr11:13722001C>T uc001mld.2 + 3 482 c.327C>T c.(325-327)TTC>TTT p.F109F FAR1_uc009ygp.2_Silent_p.F109F NM_032228 NP_115604 Q8WVX9 FACR1_HUMAN fatty acyl CoA reductase 1 109 ether lipid biosynthetic process integral to membrane|peroxisomal matrix|peroxisomal membrane protein binding ovary(1)|skin(1) 2 ATATTATATTCCACTGTGCAG 0.303 NA 6 67 0 0 0.00308 0 0 INSC 387755 broad.mit.edu 37 11 15260573 15260573 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr11:15260573G>T uc001mly.2 + 11 1533 c.1487G>T c.(1486-1488)CGT>CTT p.R496L INSC_uc001mlz.2_Missense_Mutation_p.R449L|INSC_uc001mma.2_Missense_Mutation_p.R449L|INSC_uc010rcs.1_Missense_Mutation_p.R484L|INSC_uc001mmb.2_Missense_Mutation_p.R449L|INSC_uc001mmc.2_Missense_Mutation_p.R407L NM_001031853 NP_001027024 Q1MX18 INSC_HUMAN inscuteable isoform a 496 cell differentiation|nervous system development cytoplasm binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1) 5 ACCCTGGCTCGTCTCAGCCGA 0.607 NA 7 32 0.000157383 0.000168871 0.00308 1 0 MRGPRX2 117194 broad.mit.edu 37 11 19077389 19077389 + Silent SNP A A T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr11:19077389A>T uc001mph.2 - 2 649 c.561T>A c.(559-561)ACT>ACA p.T187T NM_054030 NP_473371 Q96LB1 MRGX2_HUMAN MAS-related GPR, member X2 187 Helical; Name=5; (Potential). sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding ovary(1) 1 GCCACGCTGCAGTGATGAAAT 0.527 GBM(198;1966 2199 4849 37227 49954) NA 25 34 0 0 0.00333 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137465 40137465 + Silent SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr11:40137465G>T uc001mxa.1 - 2 2342 c.378C>A c.(376-378)CTC>CTA p.L126L LRRC4C_uc001mxc.1_Silent_p.L122L|LRRC4C_uc001mxd.1_Silent_p.L122L|LRRC4C_uc001mxb.1_Silent_p.L122L NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 126 LRR 3. regulation of axonogenesis integral to membrane protein binding ovary(4)|skin(3)|central_nervous_system(1) 8 all_lung(304;0.0575)|Lung NSC(402;0.138) CCAGAGTGTTGAGGTTCGCCA 0.443 NA 23 33 7.41877e-09 9.20303e-09 0.012319 1 0 OR4C6 219432 broad.mit.edu 37 11 55433265 55433265 + Missense_Mutation SNP T T C rs146339011 TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr11:55433265T>C uc001nht.3 + 3 888 c.623T>C c.(622-624)ATC>ACC p.I208T OR4C6_uc010rik.1_Missense_Mutation_p.I208T NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, 208 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I208M(1) skin(2) 2 TGTGTGGCCATCTTTCTTATC 0.493 NA 44 77 0 0 0.011902 0 0 MS4A6A 64231 broad.mit.edu 37 11 59939710 59939710 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr11:59939710G>T uc001nor.2 - 7 906 c.668C>A c.(667-669)CCT>CAT p.P223H MS4A6A_uc001noq.2_3'UTR|MS4A6A_uc001nos.3_Missense_Mutation_p.P251H|MS4A6A_uc009ymv.2_Missense_Mutation_p.P223H NM_152852 NP_690591 Q9H2W1 M4A6A_HUMAN membrane-spanning 4-domains, subfamily A, member 223 Cytoplasmic (Potential). integral to membrane receptor activity 0 GTAACTGTGAGGCAGGAAAAG 0.338 NA 54 100 2.48254e-18 4.03242e-18 0.00361 1 0 AHNAK 79026 broad.mit.edu 37 11 62285076 62285076 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr11:62285076C>A uc001ntl.2 - 5 17113 c.16813G>T c.(16813-16815)GCT>TCT p.A5605S AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 5605 Gly-rich. nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) AAGTTGAGAGCAGAGGAGACT 0.542 NA 37 177 6.97489e-18 1.11447e-17 0.004878 1 0 CCDC87 55231 broad.mit.edu 37 11 66360278 66360278 + Missense_Mutation SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr11:66360278C>T uc001oiq.3 - 1 277 c.209G>A c.(208-210)GGG>GAG p.G70E CCS_uc001oir.2_5'Flank NM_018219 NP_060689 Q9NVE4 CCD87_HUMAN coiled-coil domain containing 87 70 ovary(1)|skin(1) 2 CGCTGCTATCCCGCTGCCGGC 0.677 NA OREG0021111 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 53 0 0 0.004672 0 0 MRGPRD 116512 broad.mit.edu 37 11 68747617 68747617 + Missense_Mutation SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr11:68747617C>T uc010rqf.1 - 1 839 c.839G>A c.(838-840)GGC>GAC p.G280D NM_198923 NP_944605 Q8TDS7 MRGRD_HUMAN MAS-related GPR, member D 280 Helical; Name=7; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(1) 1 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) CCTCCGGCTGCCCACCAGGAA 0.667 NA 19 44 0 0 0.007413 0 0 INPPL1 3636 broad.mit.edu 37 11 71948755 71948755 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr11:71948755G>T uc001osf.2 + 26 3614 c.3467G>T c.(3466-3468)CGG>CTG p.R1156L INPPL1_uc001osg.2_Missense_Mutation_p.R914L NM_001567 NP_001558 O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 1156 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding skin(2)|ovary(1)|breast(1) 4 CAGCCCCCCCGGGGACTGCCC 0.697 NA 10 20 6.42651e-13 9.21656e-13 0.010729 1 0 C11orf82 220042 broad.mit.edu 37 11 82645284 82645284 + Missense_Mutation SNP T T G TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr11:82645284T>G uc001ozt.2 + 6 3148 c.2904T>G c.(2902-2904)TGT>TGG p.C968W C11orf82_uc010rsr.1_Missense_Mutation_p.C667W|C11orf82_uc010rss.1_Missense_Mutation_p.C667W|C11orf82_uc009yvd.2_Intron NM_145018 NP_659455 Q8IXT1 NOXIN_HUMAN nitric oxide-inducible gene protein 968 apoptosis|cell cycle arrest cytoplasm|nucleus ovary(2) 2 CTGATTCTTGTTCAGAAGTCA 0.403 NA 25 65 0 0 0.003954 0 0 CCDC81 60494 broad.mit.edu 37 11 86130969 86130969 + Splice_Site SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr11:86130969G>T uc001pbx.1 + 14 2120 c.1692_splice c.e14-1 p.E564_splice CCDC81_uc001pbw.1_Splice_Site_p.E474_splice|CCDC81_uc010rtq.1_Splice_Site_p.E347_splice|CCDC81_uc001pby.1_Splice_Site_p.E299_splice NM_001156474 NP_001149946 Q6ZN84 CCD81_HUMAN coiled-coil domain containing 81 isoform 1 skin(1) 1 Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535) TTTCTCTCCAGGCACTTGGCA 0.473 NA 10 41 1.58986e-06 1.81875e-06 0.008291 1 0 NOX4 50507 broad.mit.edu 37 11 89070683 89070683 + Missense_Mutation SNP A A T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr11:89070683A>T uc001pct.2 - 16 1686 c.1447T>A c.(1447-1449)TTT>ATT p.F483I NOX4_uc009yvr.2_Missense_Mutation_p.F458I|NOX4_uc001pcu.2_Missense_Mutation_p.F409I|NOX4_uc001pcw.2_Missense_Mutation_p.F176I|NOX4_uc001pcx.2_Missense_Mutation_p.F136I|NOX4_uc001pcv.2_Missense_Mutation_p.F443I|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Missense_Mutation_p.F296I|NOX4_uc009yvp.2_Missense_Mutation_p.F247I|NOX4_uc010rtv.1_Missense_Mutation_p.F419I|NOX4_uc009yvq.2_Missense_Mutation_p.F459I NM_016931 NP_058627 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 isoform a 483 Cytoplasmic (Potential).|Mediates interaction with TLR4. cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) TCTTGCCAAAACTGAGAGGAC 0.363 NA 11 32 0 0 0.00499 0 0 BCL9L 283149 broad.mit.edu 37 11 118773311 118773311 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr11:118773311C>A uc001pug.2 - 6 2106 c.1141G>T c.(1141-1143)GGG>TGG p.G381W BCL9L_uc009zal.2_Missense_Mutation_p.G376W NM_182557 NP_872363 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 381 Pro-rich.|Necessary for interaction with CTNNB1 (By similarity). negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity ovary(1)|pancreas(1) 2 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) GCTGCCTCCCCCAGCAGGGCA 0.692 NA 15 40 6.94344e-10 9.15414e-10 0.006122 1 0 IGSF9B 22997 broad.mit.edu 37 11 133789936 133789936 + Silent SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr11:133789936G>T uc001qgx.3 - 18 3915 c.3684C>A c.(3682-3684)CTC>CTA p.L1228L NM_014987 NP_055802 Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 1228 Pro-rich.|Cytoplasmic (Potential). integral to membrane|plasma membrane 0 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) CCTGCTGCAGGAGGCCCGGGC 0.687 NA 19 41 3.01185e-09 3.84993e-09 0.003954 1 0 ADIPOR2 79602 broad.mit.edu 37 12 1863667 1863667 + Missense_Mutation SNP C C G TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr12:1863667C>G uc001qjm.2 + 2 355 c.158C>G c.(157-159)TCC>TGC p.S53C ADIPOR2_uc001qjn.2_Missense_Mutation_p.S53C NM_024551 NP_078827 Q86V24 ADR2_HUMAN adiponectin receptor 2 53 Cytoplasmic (Potential). fatty acid oxidation|hormone-mediated signaling pathway integral to membrane hormone binding|receptor activity 0 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000382) GTTCTATCTTCCCATCATAAA 0.433 NA 12 39 0 0 0.001368 0 0 LRTM2 654429 broad.mit.edu 37 12 1940197 1940197 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr12:1940197G>T uc001qjt.2 + 4 970 c.164G>T c.(163-165)AGT>ATT p.S55I CACNA2D4_uc001qjp.2_Intron|CACNA2D4_uc009zds.1_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.1_Intron|LRTM2_uc001qju.2_Missense_Mutation_p.S55I|LRTM2_uc010sdx.1_Missense_Mutation_p.S55I|LRTM2_uc001qjv.2_Intron NM_001039029 NP_001034118 Q8N967 LRTM2_HUMAN leucine-rich repeats and transmembrane domains 2 55 LRRNT.|Extracellular (Potential). integral to membrane large_intestine(1) 1 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000834) GTGGACTGCAGTGGCCTTGGC 0.632 NA 19 67 3.62473e-10 4.84396e-10 0.012319 1 0 CLEC4D 338339 broad.mit.edu 37 12 8673750 8673750 + Silent SNP T T A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr12:8673750T>A uc001qun.2 + 6 724 c.531T>A c.(529-531)TCT>TCA p.S177S NM_080387 NP_525126 Q8WXI8 CLC4D_HUMAN C-type lectin domain family 4, member D 177 C-type lectin.|Extracellular (Potential). innate immune response integral to membrane sugar binding 0 Lung SC(5;0.184) CCGACAACTCTCAGGGAGAAA 0.343 NA 14 46 0 0 0.003163 0 0 A2ML1 144568 broad.mit.edu 37 12 9001432 9001432 + Silent SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr12:9001432C>A uc001quz.3 + 16 2048 c.1950C>A c.(1948-1950)CCC>CCA p.P650P A2ML1_uc001qva.1_Silent_p.P230P|A2ML1_uc010sgm.1_Silent_p.P150P NM_144670 NP_653271 A8K2U0 A2ML1_HUMAN alpha-2-macroglobulin-like 1 precursor 494 extracellular space endopeptidase inhibitor activity ovary(2)|skin(1) 3 ACCCAATGCCCCAAGGGCATT 0.527 NA 70 147 4.79706e-38 8.65237e-38 0.00361 1 0 PRB4 5545 broad.mit.edu 37 12 11461220 11461220 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr12:11461220C>A uc001qzf.1 - 3 731 c.697G>T c.(697-699)GGG>TGG p.G233W PRB4_uc001qzt.2_Missense_Mutation_p.G233W NM_002723 NP_002714 P10163 PRB4_HUMAN proline-rich protein BstNI subfamily 4 296 extracellular region ovary(1) 1 GGCCTGCCCCCTTGAGGAGGT 0.582 NA HNSCC(22;0.051) 60 142 3.00467e-41 5.45292e-41 0.00361 1 0 PTPRO 5800 broad.mit.edu 37 12 15637142 15637142 + Missense_Mutation SNP G G C TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr12:15637142G>C uc001rcv.1 + 2 484 c.310G>C c.(310-312)GTG>CTG p.V104L PTPRO_uc001rcw.1_Missense_Mutation_p.V104L|PTPRO_uc001rcu.1_Missense_Mutation_p.V104L NM_030667 NP_109592 Q16827 PTPRO_HUMAN receptor-type protein tyrosine phosphatase O 104 Fibronectin type-III 1.|Extracellular (Potential). 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) AAATGGAAATGTGGTGACCAA 0.398 NA 13 38 0 0 0.00245 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr12:25398285C>A uc001rgp.1 - 2 215 c.34G>T c.(34-36)GGT>TGT p.G12C KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 9 7 6.40141e-05 6.97043e-05 0.010729 1 0 FAIM2 23017 broad.mit.edu 37 12 50290860 50290860 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr12:50290860C>A uc001rvj.1 - 5 533 c.388G>T c.(388-390)GTC>TTC p.V130F FAIM2_uc001rvi.1_Missense_Mutation_p.V84F|FAIM2_uc001rvk.1_RNA NM_012306 NP_036438 Q9BWQ8 FAIM2_HUMAN Fas apoptotic inhibitory molecule 2 130 anti-apoptosis|apoptosis cell junction|integral to membrane|postsynaptic membrane large_intestine(1)|ovary(1)|skin(1) 3 TAGTCCTTGACAGGGTCACTG 0.532 NA 24 60 9.57634e-11 1.30345e-10 0.00333 1 0 SCN8A 6334 broad.mit.edu 37 12 52164461 52164461 + Silent SNP C C A rs113227803 TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr12:52164461C>A uc001ryw.2 + 19 3817 c.3639C>A c.(3637-3639)GGC>GGA p.G1213G SCN8A_uc010snl.1_Silent_p.G1078G NM_014191 NP_055006 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha 1213 III.|Helical; Name=S1 of repeat III; (Potential). axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity ovary(7) 7 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) TGAGCAGTGGCGCCCTGGTGA 0.562 NA 24 26 2.41591e-17 3.83934e-17 0.004656 1 0 SCN8A 6334 broad.mit.edu 37 12 52180593 52180593 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr12:52180593C>A uc001ryw.2 + 22 4388 c.4210C>A c.(4210-4212)CTG>ATG p.L1404M SCN8A_uc010snl.1_Missense_Mutation_p.L1228M|SCN8A_uc001rza.1_RNA NM_014191 NP_055006 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha 1404 III. axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity ovary(7) 7 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) GGCAGGATACCTGGCCCTTCT 0.398 NA 5 21 0.00116845 0.00121817 0.001168 1 0 KRT72 140807 broad.mit.edu 37 12 52984735 52984735 + Missense_Mutation SNP A A C TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr12:52984735A>C uc001sar.2 - 6 1060 c.974T>G c.(973-975)CTG>CGG p.L325R KRT72_uc001saq.2_Missense_Mutation_p.L325R|KRT72_uc010sns.1_Intron|KRT72_uc010snt.1_Missense_Mutation_p.L137R NM_001146225 NP_001139697 Q14CN4 K2C72_HUMAN keratin 72 isoform 1 325 Coil 2.|Rod. keratin filament structural molecule activity ovary(5)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(357;0.195) TGTGACCTGCAGCTCCTGGAT 0.547 NA 17 46 0 0 0.00499 0 0 HOXC11 3227 broad.mit.edu 37 12 54367460 54367460 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr12:54367460C>A uc001sem.2 + 1 551 c.435C>A c.(433-435)AGC>AGA p.S145R NM_014212 NP_055027 O43248 HXC11_HUMAN homeobox C11 145 endoderm development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 ACAAGAACAGCGTCCTGCCTC 0.667 NA T NUP98 AML 50 126 6.14515e-18 9.87253e-18 0.00361 1 0 PTPRB 5787 broad.mit.edu 37 12 70988333 70988333 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr12:70988333C>A uc001swb.3 - 4 806 c.776G>T c.(775-777)GGG>GTG p.G259V PTPRB_uc010sto.1_Missense_Mutation_p.G259V|PTPRB_uc010stp.1_Missense_Mutation_p.G259V|PTPRB_uc001swc.3_Missense_Mutation_p.G477V|PTPRB_uc001swa.3_Missense_Mutation_p.G477V|PTPRB_uc001swd.3_Missense_Mutation_p.G476V|PTPRB_uc009zrr.1_Missense_Mutation_p.G356V|PTPRB_uc001swe.2_Missense_Mutation_p.G477V NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 259 Fibronectin type-III 3.|Extracellular (Potential). angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) AGGGGTCAGCCCGTGAAAAGC 0.502 NA 32 59 1.74807e-11 2.40155e-11 0.010818 1 0 FGD6 55785 broad.mit.edu 37 12 95603227 95603227 + Silent SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr12:95603227C>A uc001tdp.3 - 2 2057 c.1833G>T c.(1831-1833)GTG>GTT p.V611V FGD6_uc009zsx.2_Intron NM_018351 NP_060821 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 611 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(2)|breast(1) 3 TGCACTTTTCCACATCCATAG 0.418 NA 62 148 5.98616e-33 1.06662e-32 0.00361 1 0 SCYL2 55681 broad.mit.edu 37 12 100729587 100729587 + Splice_Site SNP A A G TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr12:100729587A>G uc001thn.2 + 16 1980 c.1930_splice c.e16-2 p.Q644_splice SCYL2_uc001thm.1_Splice_Site_p.Q644_splice NM_017988 NP_060458 Q6P3W7 SCYL2_HUMAN SCY1-like 2 protein endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm ATP binding|protein kinase activity|receptor binding lung(3)|ovary(2)|skin(1) 6 TTTCTATTTCAGCAAATTGAC 0.328 NA 31 65 0 0 0.012213 0 0 BTBD11 121551 broad.mit.edu 37 12 108011167 108011167 + Missense_Mutation SNP C C G TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr12:108011167C>G uc001tmk.1 + 9 2706 c.2185C>G c.(2185-2187)CAG>GAG p.Q729E BTBD11_uc009zut.1_Intron|BTBD11_uc001tmj.2_Missense_Mutation_p.Q729E|BTBD11_uc001tml.1_Missense_Mutation_p.Q266E NM_001018072 NP_001018082 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 isoform a 729 integral to membrane DNA binding skin(2)|ovary(1) 3 TACAACCCCCCAGGGTGATAT 0.493 NA 24 70 0 0 0.002299 0 0 FAM109A 144717 broad.mit.edu 37 12 111801043 111801043 + Silent SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr12:111801043C>A uc001tsd.3 - 3 580 c.189G>T c.(187-189)CTG>CTT p.L63L FAM109A_uc009zvu.2_Missense_Mutation_p.W44L|FAM109A_uc001tsc.2_Silent_p.L86L NM_144671 NP_653272 Q8N4B1 SESQ1_HUMAN hypothetical protein LOC144717 63 PH. endosome organization|receptor recycling|retrograde transport, endosome to Golgi clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network protein homodimerization activity 0 TGCAGCCCTCCAGGATGATGA 0.692 NA 6 20 8.12818e-05 8.78561e-05 0.001984 1 0 DNAH10 196385 broad.mit.edu 37 12 124395175 124395175 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr12:124395175G>T uc001uft.3 + 58 9761 c.9736G>T c.(9736-9738)GGC>TGC p.G3246C NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 3246 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) AGCTGTAATGGGCTACTGTGA 0.473 NA 20 45 1.78486e-19 2.98153e-19 0.007413 1 0 POLE 5426 broad.mit.edu 37 12 133209344 133209344 + Silent SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr12:133209344C>A uc001uks.1 - 44 6086 c.6042G>T c.(6040-6042)GGG>GGT p.G2014G POLE_uc001ukq.1_Silent_p.G224G|POLE_uc001ukr.1_Silent_p.G818G|POLE_uc010tbq.1_RNA NM_006231 NP_006222 Q07864 DPOE1_HUMAN DNA-directed DNA polymerase epsilon 2014 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) TGCGCCTCAGCCCGTCCTTCA 0.672 NA DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 19 33 1.33834e-09 1.73335e-09 0.007413 1 0 POLE 5426 broad.mit.edu 37 12 133256567 133256567 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr12:133256567C>A uc001uks.1 - 5 440 c.396G>T c.(394-396)GAG>GAT p.E132D POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.E105D NM_006231 NP_006222 Q07864 DPOE1_HUMAN DNA-directed DNA polymerase epsilon 132 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) TGGGGACAGTCTCCACTTTTG 0.468 NA DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 21 50 5.35356e-11 7.32068e-11 0.00278 1 0 RXFP2 122042 broad.mit.edu 37 13 32352717 32352717 + Nonsense_Mutation SNP G G A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr13:32352717G>A uc001utt.2 + 9 853 c.782G>A c.(781-783)TGG>TAG p.W261* RXFP2_uc010aba.2_Nonsense_Mutation_p.W244* NM_130806 NP_570718 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 261 Extracellular (Potential).|LRR 6. integral to membrane|plasma membrane 0 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) CAACTCAACTGGGTGTGAGTA 0.328 NA 29 100 0 0 0.010818 0 0 LHFP 10186 broad.mit.edu 37 13 39952639 39952639 + Missense_Mutation SNP G G A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr13:39952639G>A uc001uxf.2 - 3 921 c.410C>T c.(409-411)GCC>GTC p.A137V NM_005780 NP_005771 Q9Y693 LHFP_HUMAN lipoma HMGIC fusion partner precursor 137 Helical; (Potential). integral to membrane DNA binding HMGA2/LHFP(2) soft_tissue(2)|lung(1)|breast(1) 4 Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114) OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105) GGGGTAGAGGGCACAGCCAGC 0.507 NA T HMGA2 lipoma 16 38 0 0 0.004007 0 0 RCBTB2 1102 broad.mit.edu 37 13 49076859 49076859 + Splice_Site SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr13:49076859C>A uc001vch.2 - 11 1488 c.1117_splice c.e11+1 p.E373_splice RCBTB2_uc010tgg.1_Splice_Site_p.E378_splice|RCBTB2_uc001vci.2_Splice_Site_p.E349_splice|RCBTB2_uc010tgh.1_Splice_Site_p.E99_splice|RCBTB2_uc001vcj.2_Splice_Site_p.E325_splice|RCBTB2_uc010acv.1_Splice_Site NM_001268 NP_001259 O95199 RCBT2_HUMAN regulator of chromosome condensation and BTB Ran guanyl-nucleotide exchange factor activity ovary(2)|lung(2)|skin(1) 5 all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116) GACCAGCTTACCCACGGAGAG 0.547 NA 16 63 1.55795e-14 2.33692e-14 0.012319 1 0 IPO5 3843 broad.mit.edu 37 13 98641395 98641395 + Silent SNP G G A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr13:98641395G>A uc001vnf.1 + 4 509 c.444G>A c.(442-444)CGG>CGA p.R148R IPO5_uc001vne.2_Silent_p.R166R|IPO5_uc010tik.1_Intron|IPO5_uc010til.1_Silent_p.R88R NM_002271 NP_002262 O00410 IPO5_HUMAN importin 5 148 interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus cytoplasm|nuclear pore|nucleolus GTPase inhibitor activity|protein transporter activity|Ran GTPase binding ovary(1)|lung(1)|skin(1) 3 TGGGACTGCGGGAAGCTGCCC 0.378 NA 17 27 0 0 0.004007 0 0 PRMT5 10419 broad.mit.edu 37 14 23393546 23393546 + Missense_Mutation SNP C C G TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr14:23393546C>G uc001whm.1 - 11 1223 c.1132G>C c.(1132-1134)GCA>CCA p.A378P PRMT5_uc001whl.1_Missense_Mutation_p.A361P|PRMT5_uc010akd.1_RNA|PRMT5_uc010tnf.1_Missense_Mutation_p.A272P|PRMT5_uc010tng.1_Missense_Mutation_p.A317P|PRMT5_uc010tnh.1_Missense_Mutation_p.A334P|PRMT5_uc001whn.1_Missense_Mutation_p.A207P NM_006109 NP_006100 O14744 ANM5_HUMAN protein arginine methyltransferase 5 isoform a 378 cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding ovary(1) 1 all_cancers(95;2.76e-05) GBM - Glioblastoma multiforme(265;0.0126) TGCTTGGCTGCCCGCAGGGAA 0.552 NA 30 63 0 0 0.009535 0 0 FOXG1 2290 broad.mit.edu 37 14 29237287 29237287 + Missense_Mutation SNP G G C TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr14:29237287G>C uc001wqe.2 + 1 1001 c.802G>C c.(802-804)GGC>CGC p.G268R NM_005249 NP_005240 P55316 FOXG1_HUMAN forkhead box G1 268 Fork-head. axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(2)|lung(2) 4 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) GTTCATCGGCGGCACCACGGG 0.677 NA 15 33 0 0 0.004007 0 0 COCH 1690 broad.mit.edu 37 14 31346907 31346907 + Nonsense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr14:31346907C>A uc001wqr.2 + 4 292 c.212C>A c.(211-213)TCG>TAG p.S71* COCH_uc001wqp.2_Nonsense_Mutation_p.S71*|COCH_uc001wqq.3_Nonsense_Mutation_p.S71*|uc001wqs.2_Intron|COCH_uc001wqt.1_5'Flank NM_004086 NP_004077 O43405 COCH_HUMAN cochlin precursor 71 LCCL. sensory perception of sound proteinaceous extracellular matrix pancreas(1)|central_nervous_system(1)|skin(1) 3 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.00645) GCTTCTGTATCGAGCATATGT 0.502 NA 12 34 1.49906e-05 1.66941e-05 0.00245 1 0 RTN1 6252 broad.mit.edu 37 14 60194214 60194214 + Silent SNP G G A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr14:60194214G>A uc001xen.1 - 3 1397 c.1188C>T c.(1186-1188)CCC>CCT p.P396P RTN1_uc001xem.1_5'UTR NM_021136 NP_066959 Q16799 RTN1_HUMAN reticulon 1 isoform A 396 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity ovary(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(108;0.0968) CCAGGGGGCTGGGGATGGTTG 0.692 NA 8 10 0 0 0.00308 0 0 SYNE2 23224 broad.mit.edu 37 14 64678779 64678779 + Missense_Mutation SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr14:64678779C>T uc001xgm.2 + 104 19054 c.18824C>T c.(18823-18825)TCA>TTA p.S6275L SYNE2_uc001xgl.2_Missense_Mutation_p.S6275L|SYNE2_uc010apy.2_Missense_Mutation_p.S2660L|SYNE2_uc001xgn.2_Missense_Mutation_p.S1237L|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.S245L|SYNE2_uc001xgq.2_Missense_Mutation_p.S640L|SYNE2_uc001xgr.2_Missense_Mutation_p.S58L|SYNE2_uc010tsi.1_5'Flank|SYNE2_uc001xgs.2_5'Flank NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 6275 Spectrin 8.|Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GAGCACTTCTCAGAGAGTGAC 0.547 NA 18 106 0 0 0.006122 0 0 RPS6KL1 83694 broad.mit.edu 37 14 75388072 75388072 + Missense_Mutation SNP C C A rs146920707 byFrequency TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr14:75388072C>A uc010tux.1 - 2 701 c.173G>T c.(172-174)CGG>CTG p.R58L RPS6KL1_uc001xqw.2_Missense_Mutation_p.R58L|RPS6KL1_uc010asd.1_RNA|RPS6KL1_uc001xqy.1_Missense_Mutation_p.R58L NM_031464 NP_113652 Q9Y6S9 RPKL1_HUMAN ribosomal protein S6 kinase-like 1 58 ribosome ATP binding|protein serine/threonine kinase activity ovary(1)|stomach(1)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.00658) CAGGGCCAGCCGGATCTGCGT 0.587 NA 20 79 1.01871e-10 1.38019e-10 0.008871 1 0 FLRT2 23768 broad.mit.edu 37 14 86089443 86089443 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr14:86089443C>A uc001xvr.2 + 2 2352 c.1585C>A c.(1585-1587)CAT>AAT p.H529N FLRT2_uc010atd.2_Missense_Mutation_p.H529N NM_013231 NP_037363 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 529 Extracellular (Potential). cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity ovary(3)|haematopoietic_and_lymphoid_tissue(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.0319) AGCGTCCAGCCATGAGCAGAC 0.577 NA 37 107 3.33393e-15 5.05246e-15 0.004878 1 0 MKRN3 7681 broad.mit.edu 37 15 23811970 23811970 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr15:23811970G>T uc001ywh.3 + 1 1517 c.1041G>T c.(1039-1041)TGG>TGT p.W347C MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.W347C NM_005664 NP_005655 Q13064 MKRN3_HUMAN makorin ring finger protein 3 347 RING-type. ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding p.W347C(1) lung(6)|large_intestine(2)|ovary(2) 10 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) TCCGCAGGTGGAGAAGTGCCA 0.517 NA 31 77 4.02929e-09 5.12818e-09 0.010818 1 0 RYR3 6263 broad.mit.edu 37 15 33925217 33925217 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr15:33925217C>A uc001zhi.2 + 24 3005 c.2935C>A c.(2935-2937)CAA>AAA p.Q979K RYR3_uc010bar.2_Missense_Mutation_p.Q979K NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 979 2.|4 X approximate repeats.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GTTACCTCCTCAAGAAATTTT 0.378 NA 23 70 3.83957e-06 4.34167e-06 0.00278 1 0 PLA2G4F 255189 broad.mit.edu 37 15 42438093 42438093 + Missense_Mutation SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr15:42438093C>T uc001zoz.2 - 15 1606 c.1543G>A c.(1543-1545)GAG>AAG p.E515K PLA2G4F_uc010bcq.2_5'Flank|PLA2G4F_uc001zoy.2_Missense_Mutation_p.E147K|PLA2G4F_uc010bcr.2_Missense_Mutation_p.E266K|PLA2G4F_uc001zpa.2_Missense_Mutation_p.E266K|PLA2G4F_uc010bcs.2_Missense_Mutation_p.E302K NM_213600 NP_998765 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 515 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity ovary(4) 4 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) GGCGTGAACTCGCACCACTCT 0.572 NA 26 72 0 0 0.005443 0 0 SEMA6D 80031 broad.mit.edu 37 15 48058158 48058158 + Missense_Mutation SNP T T A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr15:48058158T>A uc010bek.2 + 14 1880 c.1520T>A c.(1519-1521)ATT>AAT p.I507N SEMA6D_uc001zvw.2_Missense_Mutation_p.I507N|SEMA6D_uc001zvy.2_Missense_Mutation_p.I507N|SEMA6D_uc001zvz.2_Missense_Mutation_p.I507N|SEMA6D_uc001zwa.2_Missense_Mutation_p.I507N|SEMA6D_uc001zwb.2_Missense_Mutation_p.I507N|SEMA6D_uc001zwc.2_Missense_Mutation_p.I507N NM_153618 NP_705871 Q8NFY4 SEM6D_HUMAN semaphorin 6D isoform 4 precursor 507 Sema.|Extracellular (Potential). axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity skin(3)|breast(1) 4 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) TCTAGCTGCATTATCCGCATC 0.438 NA 36 102 0 0 0.004289 0 0 UNC13C 440279 broad.mit.edu 37 15 54527297 54527297 + Silent SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr15:54527297C>T uc002ack.2 + 4 3141 c.3141C>T c.(3139-3141)GTC>GTT p.V1047V NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 1047 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) TGCCTATTGTCCGAGATGTGG 0.383 NA 6 32 0 0 0.00308 0 0 UNC13C 440279 broad.mit.edu 37 15 54919169 54919169 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr15:54919169G>T uc002ack.2 + 31 6503 c.6503G>T c.(6502-6504)TGG>TTG p.W2168L UNC13C_uc002acm.2_Missense_Mutation_p.W89L NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 2168 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) TATGGGGCATGGTATCCTCTT 0.403 NA 18 51 3.99206e-14 5.9276e-14 0.007413 1 0 PDCD7 10081 broad.mit.edu 37 15 65411761 65411761 + Missense_Mutation SNP C C A rs145137866 byFrequency TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr15:65411761C>A uc002aol.2 - 4 1342 c.1287G>T c.(1285-1287)CAG>CAT p.Q429H NM_005707 NP_005698 Q8N8D1 PDCD7_HUMAN programmed cell death 7 429 apoptosis|induction of apoptosis|response to glucocorticoid stimulus U12-type spliceosomal complex 0 GGAGATAATACTGTCGGAAAG 0.488 NA 9 25 3.09899e-07 3.64441e-07 0.004482 1 0 NOD2 64127 broad.mit.edu 37 16 50744743 50744743 + Silent SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr16:50744743G>T uc002egm.1 + 4 1026 c.921G>T c.(919-921)ACG>ACT p.T307T NOD2_uc010cbk.1_Silent_p.T280T|NOD2_uc002egl.1_Silent_p.T85T|NOD2_uc010cbl.1_Silent_p.T85T|NOD2_uc010cbm.1_Silent_p.T85T|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank NM_022162 NP_071445 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain 307 NACHT. activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding ovary(3)|skin(1) 4 all_cancers(37;0.0156) GCAAGAGCACGCTCCTGCAGC 0.627 NA 15 29 3.27435e-08 3.97793e-08 0.00245 1 0 ESRP2 80004 broad.mit.edu 37 16 68264348 68264348 + Missense_Mutation SNP C C G TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr16:68264348C>G uc010cfa.1 - 14 2226 c.2038G>C c.(2038-2040)GGT>CGT p.G680R ESRP2_uc002evp.1_RNA|ESRP2_uc002evq.1_Missense_Mutation_p.G670R NM_024939 NP_079215 Q9H6T0 ESRP2_HUMAN RNA binding motif protein 35B 680 mRNA processing|regulation of RNA splicing|RNA splicing nucleus mRNA binding|nucleotide binding ovary(1) 1 TATGGGACACCCTGCATGCGG 0.632 NA 25 67 0 0 0.00333 0 0 SLC38A8 146167 broad.mit.edu 37 16 84050184 84050184 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr16:84050184G>T uc002fhg.1 - 8 1102 c.1102C>A c.(1102-1104)CTC>ATC p.L368I NM_001080442 NP_001073911 A6NNN8 S38A8_HUMAN solute carrier family 38, member 8 368 Helical; (Potential). amino acid transport|sodium ion transport integral to membrane 0 ATCTCGCTGAGGTCAGGCATA 0.612 NA 17 51 2.48551e-13 3.58205e-13 0.00499 1 0 MTHFSD 64779 broad.mit.edu 37 16 86575712 86575712 + Missense_Mutation SNP A A T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr16:86575712A>T uc002fjn.2 - 6 601 c.550T>A c.(550-552)TGC>AGC p.C184S MTHFSD_uc010voo.1_Missense_Mutation_p.C164S|MTHFSD_uc002fjo.2_Missense_Mutation_p.C21S|MTHFSD_uc002fjm.2_Missense_Mutation_p.C183S|MTHFSD_uc010vop.1_Missense_Mutation_p.C21S|MTHFSD_uc010voq.1_Missense_Mutation_p.C183S|MTHFSD_uc010vor.1_Missense_Mutation_p.C184S|MTHFSD_uc002fjp.2_Missense_Mutation_p.C164S NM_001159377 NP_001152849 Q2M296 MTHSD_HUMAN methenyltetrahydrofolate synthetase domain 184 folic acid-containing compound biosynthetic process 5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding 0 AGCACCTGGCAGTCGTGGACG 0.577 NA 15 48 0 0 0.004007 0 0 TRPV3 162514 broad.mit.edu 37 17 3432144 3432144 + Missense_Mutation SNP G G C TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr17:3432144G>C uc002fvt.1 - 10 1710 c.1388C>G c.(1387-1389)CCC>CGC p.P463R TRPV3_uc002fvs.1_RNA|TRPV3_uc010vrh.1_Missense_Mutation_p.P447R|TRPV3_uc010vri.1_Missense_Mutation_p.P418R|TRPV3_uc010vrj.1_Missense_Mutation_p.P447R|TRPV3_uc010vrk.1_RNA|TRPV3_uc010vrl.1_Missense_Mutation_p.P447R|TRPV3_uc010vrm.1_RNA|TRPV3_uc002fvr.2_Missense_Mutation_p.P463R|TRPV3_uc002fvu.2_Missense_Mutation_p.P463R|TRPV3_uc010vrn.1_Missense_Mutation_p.P45R NM_145068 NP_659505 Q8NET8 TRPV3_HUMAN transient receptor potential cation channel, 463 Extracellular (Potential). integral to membrane calcium channel activity ovary(4) 4 Menthol(DB00825) CTCCTCCCGGGGGCGGTAGTA 0.393 NA 20 44 0 0 0.002299 0 0 ZNF232 7775 broad.mit.edu 37 17 5009405 5009405 + Missense_Mutation SNP T T C TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr17:5009405T>C uc002gas.2 - 5 1722 c.968A>G c.(967-969)CAG>CGG p.Q323R ZNF232_uc002gar.1_Missense_Mutation_p.Q341R|ZNF232_uc002gat.2_Missense_Mutation_p.Q350R NM_014519 NP_055334 Q9UNY5 ZN232_HUMAN zinc finger protein 232 323 C2H2-type 2. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(1)|ovary(1) 2 ATGAATTCTCTGATGCTGACC 0.453 NA 39 102 0 0 0.006999 0 0 USP6 9098 broad.mit.edu 37 17 5064886 5064886 + Silent SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr17:5064886C>T uc002gau.1 + 32 5122 c.2892C>T c.(2890-2892)TCC>TCT p.S964S USP6_uc002gav.1_Silent_p.S964S|USP6_uc010ckz.1_Silent_p.S647S NM_004505 NP_004496 P35125 UBP6_HUMAN ubiquitin specific protease 6 964 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1) 5 ATGGGAACTCCTGTGCTTGGT 0.363 NA T COL1A1|CDH11|ZNF9|OMD aneurysmal bone cysts 15 49 0 0 0.00499 0 0 EFCAB5 374786 broad.mit.edu 37 17 28410034 28410034 + Silent SNP G G A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr17:28410034G>A uc002het.2 + 18 3744 c.3552G>A c.(3550-3552)ACG>ACA p.T1184T EFCAB5_uc010cse.2_Silent_p.T939T|EFCAB5_uc010csf.2_Intron NM_198529 NP_940931 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 isoform a 1184 calcium ion binding ovary(1)|skin(1) 2 CCATCACTACGTACTTTGTAG 0.488 NA 14 26 0 0 0.001855 0 0 GPR179 440435 broad.mit.edu 37 17 36485944 36485944 + Silent SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr17:36485944G>T uc002hpz.2 - 11 3529 c.3508C>A c.(3508-3510)CGG>AGG p.R1170R NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN GPR158-like 1 precursor 1170 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) CTGCCCTCCCGTTGACAGACT 0.577 NA 55 162 2.84144e-21 4.88528e-21 0.00361 1 0 RAPGEFL1 51195 broad.mit.edu 37 17 38347009 38347009 + Missense_Mutation SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr17:38347009C>T uc010cwu.1 + 8 1202 c.712C>T c.(712-714)CAT>TAT p.H238Y RAPGEFL1_uc010wfd.1_Missense_Mutation_p.H174Y NM_016339 NP_057423 Q9UHV5 RPGFL_HUMAN Rap guanine nucleotide exchange factor 444 Ras-GEF. G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction intracellular|membrane fraction guanyl-nucleotide exchange factor activity ovary(1)|central_nervous_system(1)|skin(1) 3 CCGATGTGTGCATGAGGTGGG 0.552 Esophageal Squamous(28;274 750 6870 14218 42203) NA 29 119 0 0 0.010818 0 0 ITGB3 3690 broad.mit.edu 37 17 45361973 45361973 + Silent SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr17:45361973C>A uc002ilj.2 + 4 546 c.526C>A c.(526-528)CGG>AGG p.R176R ITGB3_uc002ili.1_Silent_p.R176R|ITGB3_uc010wkr.1_RNA NM_000212 NP_000203 P05106 ITB3_HUMAN integrin beta chain, beta 3 precursor 176 VWFA.|Extracellular (Potential). activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding central_nervous_system(5)|large_intestine(1) 6 Abciximab(DB00054)|Tirofiban(DB00775) CAGTAACCTGCGGATTGGCTT 0.537 NA 44 98 5.44703e-19 8.94651e-19 0.009718 1 0 TBKBP1 9755 broad.mit.edu 37 17 45773563 45773563 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr17:45773563G>T uc002ilu.2 + 1 934 c.85G>T c.(85-87)GAC>TAC p.D29Y NM_014726 NP_055541 A7MCY6 TBKB1_HUMAN TBK1 binding protein 1 29 innate immune response 0 CAGTCCCGGAGACCCCTCGCT 0.647 NA 30 36 3.99451e-17 6.3139e-17 0.009535 1 0 POLG2 11232 broad.mit.edu 37 17 62479064 62479064 + Missense_Mutation SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr17:62479064C>T uc002jei.2 - 6 1246 c.1163G>A c.(1162-1164)GGA>GAA p.G388E NM_007215 NP_009146 Q9UHN1 DPOG2_HUMAN DNA polymerase subunit gamma-2, mitochondrial 388 DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation mitochondrial chromosome ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding central_nervous_system(1) 1 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;4.97e-11) GGGGCCTCTTCCTACATCCAA 0.328 Colon(3;18 21 435 17652 48887) NA 22 48 0 0 0.005443 0 0 ENPP7 339221 broad.mit.edu 37 17 77709293 77709293 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr17:77709293G>T uc002jxa.2 + 3 871 c.851G>T c.(850-852)GGG>GTG p.G284V NM_178543 NP_848638 Q6UWV6 ENPP7_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 284 negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process Golgi apparatus|integral to membrane|microvillus sphingomyelin phosphodiesterase activity central_nervous_system(2)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224) GGACCAAACGGGATGCTGCTC 0.582 NA 17 53 3.41278e-10 4.58154e-10 0.00499 1 0 CDH7 1005 broad.mit.edu 37 18 63430170 63430170 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr18:63430170G>T uc002ljz.2 + 2 417 c.92G>T c.(91-93)AGG>ATG p.R31M CDH7_uc002lka.2_Missense_Mutation_p.R31M|CDH7_uc002lkb.2_Missense_Mutation_p.R31M NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 31 Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(42;0.129) GAACTCTCAAGGTCCAGATCA 0.468 NA 15 30 8.60227e-14 1.26453e-13 0.004007 1 0 CDH19 28513 broad.mit.edu 37 18 64211401 64211401 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr18:64211401C>A uc002lkc.1 - 7 1159 c.1021G>T c.(1021-1023)GTT>TTT p.V341F CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.V341F|CDH19_uc002lkd.2_Missense_Mutation_p.V341F NM_021153 NP_066976 Q9H159 CAD19_HUMAN cadherin 19, type 2 preproprotein 341 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 Esophageal squamous(42;0.0132) TGCTCAGGAACATGATGGTTT 0.418 NA 8 39 0.00307968 0.00315479 0.00308 1 0 STK11 6794 broad.mit.edu 37 19 1207079 1207079 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr19:1207079G>T uc002lrl.1 + 1 1282 c.167G>T c.(166-168)GGG>GTG p.G56V NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 56 ATP (By similarity).|Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(19)|p.?(3)|p.G56V(1)|p.G56W(1)|p.G56fs*107(1)|p.G56fs*4(1)|p.G52_P179del(1) lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1) 266 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) GACCTGCTGGGGGAAGGCTCT 0.612 14 D|Mis|N|F|S NSCLC|pancreatic jejunal harmartoma|ovarian|testicular|pancreatic Peutz-Jeghers_syndrome TSP Lung(3;<1E-08) 8 13 7.48243e-07 8.695e-07 0.006214 1 0 STK11 6794 broad.mit.edu 37 19 1207144 1207144 + Missense_Mutation SNP A A G TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr19:1207144A>G uc002lrl.1 + 1 1347 c.232A>G c.(232-234)AAG>GAG p.K78E NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 78 Protein kinase. ATP (Probable). K->M: Loss of kinase activity, leading to reduced autophosphorylation and acting as a dominant-negative mutant. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(19)|p.?(3)|p.G52_P179del(1)|p.K78E(1) lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1) 266 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) GAGGGCCGTCAAGATCCTCAA 0.617 14 D|Mis|N|F|S NSCLC|pancreatic jejunal harmartoma|ovarian|testicular|pancreatic Peutz-Jeghers_syndrome TSP Lung(3;<1E-08) 6 8 0 0 0.001984 0 0 KEAP1 9817 broad.mit.edu 37 19 10602739 10602739 + Missense_Mutation SNP A A T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr19:10602739A>T uc002moq.1 - 3 995 c.839T>A c.(838-840)TTC>TAC p.F280Y KEAP1_uc002mop.1_5'UTR|KEAP1_uc002mor.1_Missense_Mutation_p.F280Y NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 280 BACK. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) CATCTGCAGGAAGTTCGGCGT 0.617 NA 31 41 0 0 0.003271 0 0 ZNF98 148198 broad.mit.edu 37 19 22605004 22605005 + Missense_Mutation DNP AG AG TT TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 AG AG - - AG AG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr19:22605004_22605005AG>TT uc002nqt.2 - 1 144_145 c.22_23CT>AA c.(22-24)CTA>AAA p.L8K NM_001098626 NP_001092096 A6NK75 ZNF98_HUMAN zinc finger protein 98 8 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) CACCATTTCTAGGCTTCCAAGG 0.614 NA 43 76 0 0 0.004672 0 0 AXL 558 broad.mit.edu 37 19 41765541 41765541 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr19:41765541C>A uc010ehj.2 + 20 2607 c.2417C>A c.(2416-2418)ACA>AAA p.T806K CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_5'Flank|HNRNPUL1_uc002oqa.3_5'Flank|AXL_uc010ehk.2_Missense_Mutation_p.T797K NM_021913 NP_068713 P30530 UFO_HUMAN AXL receptor tyrosine kinase isoform 1 806 Cytoplasmic (Potential).|Protein kinase. integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1) 13 TTGGAGAACACACTGAAGGCC 0.552 NA 20 59 3.51602e-12 4.92242e-12 0.008871 1 0 PSG6 5675 broad.mit.edu 37 19 43414784 43414784 + Silent SNP T T A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr19:43414784T>A uc002ovj.1 - 3 706 c.654A>T c.(652-654)ATA>ATT p.I218I PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Silent_p.I225I|PSG6_uc002ovi.2_Silent_p.I219I|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG6_uc002ove.1_5'UTR|PSG6_uc002ovf.1_Silent_p.I218I|PSG6_uc002ovg.1_Silent_p.I218I NM_002782 NP_002773 Q00889 PSG6_HUMAN pregnancy specific beta-1-glycoprotein 6 isoform 218 Ig-like C2-type 1. female pregnancy extracellular region ovary(1)|skin(1) 2 Prostate(69;0.00899) CTGGGTTCCGTATTTCACATT 0.502 NA 127 267 0 0 0.00361 0 0 CPT1C 126129 broad.mit.edu 37 19 50212025 50212025 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr19:50212025G>T uc002ppj.2 + 13 1700 c.1495G>T c.(1495-1497)GGC>TGC p.G499C CPT1C_uc002ppl.3_Missense_Mutation_p.G465C|CPT1C_uc002ppi.2_Missense_Mutation_p.G416C|CPT1C_uc002ppk.2_Missense_Mutation_p.G488C|CPT1C_uc010eng.2_Missense_Mutation_p.G499C|CPT1C_uc010enh.2_Missense_Mutation_p.G499C|CPT1C_uc010ybc.1_Missense_Mutation_p.G370C|CPT1C_uc010eni.1_Missense_Mutation_p.G156C NM_152359 NP_689572 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C isoform 2 499 Cytoplasmic (Potential). fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) CTCAACAGACGGCCACTGCAA 0.612 NA 21 85 7.45023e-12 1.03319e-11 0.010504 1 0 SIGLEC10 89790 broad.mit.edu 37 19 51920651 51920652 + Missense_Mutation DNP AC AC TT TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 AC AC - - AC AC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr19:51920651_51920652AC>TT uc002pwo.2 - 2 721_722 c.105_106GT>AA c.(103-108)CTGTGC>CTAAGC p.C36S SIGLEC10_uc002pwp.2_Missense_Mutation_p.C36S|SIGLEC10_uc002pwq.2_Missense_Mutation_p.C36S|SIGLEC10_uc002pwr.2_Missense_Mutation_p.C36S|SIGLEC10_uc010ycy.1_Missense_Mutation_p.C36S|SIGLEC10_uc010ycz.1_Missense_Mutation_p.C36S|SIGLEC10_uc010eow.2_Intron|SIGLEC10_uc002pws.1_Missense_Mutation_p.C20S NM_033130 NP_149121 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 precursor 36 Extracellular (Potential).|Ig-like V-type. cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding skin(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) ACAGAGATGCACAGGCCCTCCG 0.579 NA 11 68 0 0 0.004672 0 0 SIGLEC8 27181 broad.mit.edu 37 19 51961268 51961268 + Missense_Mutation SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr19:51961268C>T uc002pwt.2 - 1 441 c.374G>A c.(373-375)CGG>CAG p.R125Q SIGLEC8_uc010yda.1_Missense_Mutation_p.R125Q|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Missense_Mutation_p.R125Q NM_014442 NP_055257 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 precursor 125 Extracellular (Potential). Sialic acid (By similarity). cell adhesion integral to membrane sugar binding|transmembrane receptor activity ovary(2)|kidney(1)|central_nervous_system(1)|skin(1) 5 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) TCTCTCTAGCCGAAAGAAATA 0.498 NA 62 112 0 0 0.00361 0 0 ZNF578 147660 broad.mit.edu 37 19 53014459 53014459 + Silent SNP A A T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr19:53014459A>T uc002pzp.3 + 6 1069 c.825A>T c.(823-825)GCA>GCT p.A275A NM_001099694 NP_001093164 Q96N58 ZN578_HUMAN zinc finger protein 578 50 C2H2-type 2; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) GATACCTTGCACGCCATCGTA 0.378 NA 37 97 0 0 0.003755 0 0 ZNF525 170958 broad.mit.edu 37 19 53879144 53879144 + Missense_Mutation SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr19:53879144C>T uc010eqn.2 + 3 222 c.29C>T c.(28-30)TCC>TTC p.S10F ZNF525_uc002qbl.2_RNA|ZNF765_uc010ydx.1_5'UTR NR_003699 Homo sapiens cDNA FLJ39718 fis, clone SMINT2013695. 0 AACCTGGTCTCCCTGGGTGAG 0.398 NA 11 145 0 0 0.001368 0 0 NLRP2 55655 broad.mit.edu 37 19 55495055 55495055 + Silent SNP G G A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr19:55495055G>A uc002qij.2 + 6 2075 c.1989G>A c.(1987-1989)CCG>CCA p.P663P NLRP2_uc010yfp.1_Silent_p.P640P|NLRP2_uc010esn.2_Silent_p.P639P|NLRP2_uc010eso.2_Silent_p.P660P|NLRP2_uc010esp.2_Silent_p.P641P NM_017852 NP_060322 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 663 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) AGAATCTCCCGGAGAATGTCA 0.488 NA 15 50 0 0 0.006122 0 0 NLRP5 126206 broad.mit.edu 37 19 56539267 56539267 + Silent SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr19:56539267C>A uc002qmj.2 + 7 1668 c.1668C>A c.(1666-1668)CTC>CTA p.L556L NLRP5_uc002qmi.2_Silent_p.L537L NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 556 NACHT. mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TTCAAGGACTCGGGGAGTCTG 0.532 NA 9 26 0.000274275 0.000289021 0.004482 1 0 VN1R1 57191 broad.mit.edu 37 19 57967672 57967672 + Silent SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr19:57967672C>A uc002qos.1 - 1 183 c.183G>T c.(181-183)CTG>CTT p.L61L ZNF547_uc002qpm.3_Intron NM_020633 NP_065684 Q9GZP7 VN1R1_HUMAN vomeronasal 1 receptor 1 61 Helical; Name=1; (Potential). response to pheromone integral to membrane|plasma membrane pheromone receptor activity ovary(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171) AGGAATTTCCCAGGATCCCAA 0.408 NA 25 43 4.59853e-10 6.1175e-10 0.005443 1 0 ZNF551 90233 broad.mit.edu 37 19 58199618 58199618 + Missense_Mutation SNP A A G TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr19:58199618A>G uc002qpw.3 + 3 2150 c.1927A>G c.(1927-1929)ATT>GTT p.I643V ZNF551_uc002qpv.3_Missense_Mutation_p.I586V|ZNF776_uc002qpx.2_Intron NM_138347 NP_612356 Q7Z340 ZN551_HUMAN zinc finger protein 551 659 C2H2-type 14. 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) ATCTAACCTCATTCGACATCG 0.428 NA 35 72 0 0 0.004289 0 0 COLEC11 78989 broad.mit.edu 37 2 3652050 3652050 + Silent SNP T T A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr2:3652050T>A uc002qya.2 + 2 268 c.120T>A c.(118-120)CCT>CCA p.P40P COLEC11_uc002qxz.2_Missense_Mutation_p.L11Q|COLEC11_uc002qyb.2_Silent_p.P40P|COLEC11_uc002qyc.2_Silent_p.P40P|COLEC11_uc010ewo.2_Silent_p.P40P|COLEC11_uc010ewp.2_5'Flank|COLEC11_uc010ewq.2_5'Flank|COLEC11_uc010ewr.2_5'Flank|COLEC11_uc010ews.2_5'Flank NM_024027 NP_076932 Q9BWP8 COL11_HUMAN collectin sub-family member 11 isoform a 40 collagen mannose binding 0 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.127) TCCTCGTCCCTGGCCTCAAAG 0.627 NA 19 74 0 0 0.007413 0 0 ASB3 51130 broad.mit.edu 37 2 53897674 53897674 + Missense_Mutation SNP T T C TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr2:53897674T>C uc002rxg.1 - 10 1658 c.1523A>G c.(1522-1524)GAA>GGA p.E508G ASB3_uc002rxh.1_Missense_Mutation_p.E435G|ASB3_uc002rxi.3_Missense_Mutation_p.E546G|ASB3_uc002rxf.1_RNA NM_016115 NP_057199 Q9Y575 ASB3_HUMAN ankyrin repeat and SOCS box-containing protein 3 508 intracellular signal transduction ovary(1)|kidney(1) 2 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) TTCTGGAACTTCATACATCCT 0.383 NA 3 33 0 0 0.004672 0 0 DYSF 8291 broad.mit.edu 37 2 71791305 71791305 + Missense_Mutation SNP G G A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr2:71791305G>A uc002sie.2 + 24 2849 c.2473G>A c.(2473-2475)GGC>AGC p.G825S DYSF_uc010feg.2_Missense_Mutation_p.G856S|DYSF_uc010feh.2_Missense_Mutation_p.G811S|DYSF_uc002sig.3_Missense_Mutation_p.G811S|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.G825S|DYSF_uc010fef.2_Missense_Mutation_p.G842S|DYSF_uc010fei.2_Missense_Mutation_p.G842S|DYSF_uc010fek.2_Missense_Mutation_p.G843S|DYSF_uc010fej.2_Missense_Mutation_p.G812S|DYSF_uc010fel.2_Missense_Mutation_p.G812S|DYSF_uc010feo.2_Missense_Mutation_p.G857S|DYSF_uc010fem.2_Missense_Mutation_p.G826S|DYSF_uc010fen.2_Missense_Mutation_p.G843S|DYSF_uc002sif.2_Missense_Mutation_p.G826S NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 825 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 CAACTACTGTGGCAAGAATTG 0.512 NA 32 77 0 0 0.010818 0 0 REV1 51455 broad.mit.edu 37 2 100021119 100021119 + Missense_Mutation SNP C C G TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr2:100021119C>G uc002tad.2 - 18 3045 c.2833G>C c.(2833-2835)GCA>CCA p.A945P REV1_uc002tac.2_Missense_Mutation_p.A944P NM_016316 NP_057400 Q9UBZ9 REV1_HUMAN REV1-like isoform 1 945 DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding ovary(2) 2 GGTGGAAGTGCTTCTAAAACA 0.438 NA DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 22 49 0 0 0.00333 0 0 REV1 51455 broad.mit.edu 37 2 100021122 100021122 + Missense_Mutation SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr2:100021122C>T uc002tad.2 - 18 3042 c.2830G>A c.(2830-2832)GAA>AAA p.E944K REV1_uc002tac.2_Missense_Mutation_p.E943K NM_016316 NP_057400 Q9UBZ9 REV1_HUMAN REV1-like isoform 1 944 DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding ovary(2) 2 GGAAGTGCTTCTAAAACAGAC 0.438 NA DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 22 50 0 0 0.00278 0 0 RGPD4 285190 broad.mit.edu 37 2 108475962 108475962 + Missense_Mutation SNP A A C TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr2:108475962A>C uc010ywk.1 + 11 1668 c.1586A>C c.(1585-1587)CAA>CCA p.Q529P RGPD4_uc002tdu.2_5'UTR|RGPD4_uc010ywl.1_RNA NM_182588 NP_872394 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 529 intracellular transport binding skin(2) 2 ACAGAAAGACAAAAATCTTGG 0.398 NA 79 264 0 0 0.00361 0 0 RANBP2 5903 broad.mit.edu 37 2 109384607 109384607 + Missense_Mutation SNP A A T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr2:109384607A>T uc002tem.3 + 20 7738 c.7612A>T c.(7612-7614)AGT>TGT p.S2538C NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 2538 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 ATTCGGCAACAGTTCAGCCAC 0.373 NA 84 246 0 0 0.00361 0 0 ANAPC1 64682 broad.mit.edu 37 2 112540062 112540063 + Missense_Mutation DNP CC CC AA TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr2:112540062_112540063CC>AA uc002thi.2 - 43 5332_5333 c.5085_5086GG>TT c.(5083-5088)GGGGTT>GGTTTT p.V1696F NM_022662 NP_073153 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 1696 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm skin(2) 2 ACATATAAAACCCCATCCTTGG 0.421 NA 6 37 0 0 0.004672 0 0 DDX11L2 84771 broad.mit.edu 37 2 114357557 114357557 + Nonstop_Mutation SNP A A G rs115341812 by1000genomes TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr2:114357557A>G uc010yxx.1 - 3 709 c.382T>C c.(382-384)TAG>CAG p.*128Q SubName: Full=DEAD/H box polypeptide 11 like 2; 0 GCCTACTTCTAGTGAAACTGG 0.567 NA 5 37 0 0 0.000602 0 0 LOC401010 401010 broad.mit.edu 37 2 132201350 132201350 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr2:132201350G>T uc002tst.2 - 1 1118 c.652C>A c.(652-654)CCG>ACG p.P218T NR_002826 SubName: Full=cDNA FLJ12694 fis, clone NT2RP1000358, highly similar to Homo sapiens mRNA; cDNA DKFZp564C186 (from clone DKFZp564C186); 0 GCCACACCCGGCTCCAAGGCC 0.577 NA 11 23 1.08611e-07 1.29803e-07 0.010729 1 0 LRP1B 53353 broad.mit.edu 37 2 141135766 141135766 + Missense_Mutation SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr2:141135766C>T uc002tvj.1 - 68 11593 c.10621G>A c.(10621-10623)GCA>ACA p.A3541T NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3541 Extracellular (Potential).|LDL-receptor class A 26. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GAGCCATCTGCACAGTCAAAA 0.403 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 21 43 0 0 0.010504 0 0 LRP1B 53353 broad.mit.edu 37 2 141739834 141739834 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr2:141739834G>T uc002tvj.1 - 18 3754 c.2782C>A c.(2782-2784)CAG>AAG p.Q928K LRP1B_uc010fnl.1_Missense_Mutation_p.Q110K NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 928 Extracellular (Potential).|LDL-receptor class A 5. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TGGTCTACCTGGCATGTTCTG 0.408 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 11 41 6.40141e-05 6.97043e-05 0.010729 1 0 TNFAIP6 7130 broad.mit.edu 37 2 152220570 152220570 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr2:152220570C>A uc002txk.2 + 2 284 c.208C>A c.(208-210)CAG>AAG p.Q70K NM_007115 NP_009046 P98066 TSG6_HUMAN tumor necrosis factor, alpha-induced protein 6 70 Link. cell adhesion|cell-cell signaling|inflammatory response|signal transduction hyaluronic acid binding 0 BRCA - Breast invasive adenocarcinoma(221;0.131) AACTTACAAGCAGCTAGAGGC 0.433 NA 9 27 0.00448238 0.00457576 0.004482 1 0 NEB 4703 broad.mit.edu 37 2 152507201 152507201 + Missense_Mutation SNP A A T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr2:152507201A>T uc010fnx.2 - 53 7305 c.7114T>A c.(7114-7116)TGT>AGT p.C2372S NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 2372 Nebulin 63. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) AACTCCTGACACTTCTTGGCC 0.448 NA 78 211 0 0 0.00361 0 0 BAZ2B 29994 broad.mit.edu 37 2 160189152 160189152 + Missense_Mutation SNP G G A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr2:160189152G>A uc002uao.2 - 34 6194 c.5842C>T c.(5842-5844)CTT>TTT p.L1948F BAZ2B_uc002uap.2_Missense_Mutation_p.L1912F NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 1948 PHD-type. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(3)|skin(1) 4 CCATCACAAAGAAGAAGCAGT 0.383 NA 16 55 0 0 0.006122 0 0 GCG 2641 broad.mit.edu 37 2 163002070 163002070 + Silent SNP C C G TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr2:163002070C>G uc002ucc.2 - 4 471 c.372G>C c.(370-372)GTG>GTC p.V124V NM_002054 NP_002045 P01275 GLUC_HUMAN glucagon preproprotein 124 cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion plasma membrane|soluble fraction hormone activity 0 Exenatide(DB01276)|Phentolamine(DB00692) CTCGGCCTTTCACCAGCCAAG 0.408 NA 5 154 0 0 0.000602 0 0 SSFA2 6744 broad.mit.edu 37 2 182780424 182780424 + Missense_Mutation SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr2:182780424C>T uc002uoi.2 + 11 2379 c.2057C>T c.(2056-2058)TCT>TTT p.S686F SSFA2_uc002uoh.2_Missense_Mutation_p.S686F|SSFA2_uc002uoj.2_Missense_Mutation_p.S686F|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Missense_Mutation_p.S533F|SSFA2_uc002uol.2_Missense_Mutation_p.S533F|SSFA2_uc002uom.2_Missense_Mutation_p.S154F NM_001130445 NP_001123917 P28290 SSFA2_HUMAN sperm specific antigen 2 isoform 1 686 cytoplasm|plasma membrane actin binding breast(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0856) GGGCCTCCCTCTTCCATGGAC 0.403 NA 18 38 0 0 0.00499 0 0 NCKAP1 10787 broad.mit.edu 37 2 183821252 183821252 + Silent SNP T T C TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr2:183821252T>C uc002upc.2 - 20 2493 c.2091A>G c.(2089-2091)GTA>GTG p.V697V NCKAP1_uc002upb.2_Silent_p.V703V NM_013436 NP_038464 Q9Y2A7 NCKP1_HUMAN NCK-associated protein 1 isoform 1 697 apoptosis|central nervous system development integral to membrane|lamellipodium membrane protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) TATGTTCCCATACCACCATGT 0.328 NA 26 70 0 0 0.005443 0 0 AOX1 316 broad.mit.edu 37 2 201523986 201523986 + Silent SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr2:201523986G>T uc002uvx.2 + 28 3371 c.3270G>T c.(3268-3270)GTG>GTT p.V1090V AOX1_uc010zhf.1_Silent_p.V646V|AOX1_uc010fsu.2_Silent_p.V456V NM_001159 NP_001150 Q06278 ADO_HUMAN aldehyde oxidase 1 1090 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity ovary(4)|pancreas(1)|skin(1) 6 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) GAGGTTCTGTGGTGGCAGATC 0.502 NA 25 101 9.04412e-07 1.04684e-06 0.004656 1 0 IGFBP5 3488 broad.mit.edu 37 2 217541586 217541586 + Missense_Mutation SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr2:217541586C>T uc002vgj.3 - 4 1481 c.707G>A c.(706-708)CGC>CAC p.R236H NM_000599 NP_000590 P24593 IBP5_HUMAN insulin-like growth factor binding protein 5 236 Thyroglobulin type-1. negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction insulin-like growth factor I binding 0 Renal(323;0.0822) Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCCACGTTTGCGGCCACGGGA 0.627 NA 27 104 0 0 0.003271 0 0 INPP5D 3635 broad.mit.edu 37 2 234091102 234091102 + Silent SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr2:234091102C>A uc010zmo.1 + 18 2271 c.2118C>A c.(2116-2118)GCC>GCA p.A706A INPP5D_uc010zmp.1_Silent_p.A705A NM_001017915 NP_001017915 Q92835 SHIP1_HUMAN SH2 containing inositol phosphatase isoform a 706 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding ovary(1)|central_nervous_system(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) CTGTCTTTGCCACATTTGAGG 0.517 NSCLC(82;1215 1426 16163 20348 41018) NA 20 66 1.28384e-07 1.52197e-07 0.012319 1 0 UGT1A5 54579 broad.mit.edu 37 2 234622463 234622463 + Missense_Mutation SNP A A T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr2:234622463A>T uc002vuw.2 + 1 826 c.826A>T c.(826-828)ATT>TTT p.I276F UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Missense_Mutation_p.I276F NM_019078 NP_061951 P35504 UD15_HUMAN UDP glycosyltransferase 1 family, polypeptide A5 276 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(1) 1 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645) CATGGTCTTCATTGGGGGCAT 0.488 NA 52 110 0 0 0.00361 0 0 MLPH 79083 broad.mit.edu 37 2 238419223 238419223 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr2:238419223G>T uc002vwt.2 + 3 344 c.117G>T c.(115-117)TTG>TTT p.L39F MLPH_uc002vws.2_Missense_Mutation_p.L39F|MLPH_uc010fyt.1_Missense_Mutation_p.L39F|MLPH_uc002vwu.2_Missense_Mutation_p.L39F|MLPH_uc002vwv.2_Missense_Mutation_p.L39F|MLPH_uc002vww.2_Missense_Mutation_p.L15F NM_024101 NP_077006 Q9BV36 MELPH_HUMAN melanophilin isoform 1 39 RabBD. metal ion binding ovary(1) 1 Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203) Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316) CAAGGGCGTTGAAGGGCAAGA 0.433 NA 3 40 0.004672 0.00475283 0.004672 1 0 KLHL30 377007 broad.mit.edu 37 2 239049536 239049536 + Missense_Mutation SNP C C G TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr2:239049536C>G uc002vxr.1 + 1 120 c.87C>G c.(85-87)CAC>CAG p.H29Q NM_198582 NP_940984 Q0D2K2 KLH30_HUMAN kelch-like 30 47 BTB. 0 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) TGCCATGCCACCGCGGCCTCC 0.692 NA 26 51 0 0 0.00333 0 0 RIN2 54453 broad.mit.edu 37 20 19970827 19970827 + Missense_Mutation SNP A A T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr20:19970827A>T uc002wro.1 + 8 1976 c.1940A>T c.(1939-1941)GAT>GTT p.D647V RIN2_uc010gcu.1_Missense_Mutation_p.D214V|RIN2_uc010gcv.1_Missense_Mutation_p.D441V NM_018993 NP_061866 Q8WYP3 RIN2_HUMAN Ras and Rab interactor 2 647 VPS9. endocytosis|small GTPase mediated signal transduction cytoplasm GTPase activator activity|Rab guanyl-nucleotide exchange factor activity lung(4)|ovary(1) 5 CCGACCCCTGATTTTGTGGAT 0.537 NA 5 8 0 0 0.000602 0 0 CRNKL1 51340 broad.mit.edu 37 20 20024248 20024248 + Missense_Mutation SNP G G A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr20:20024248G>A uc002wrs.2 - 8 1375 c.1343C>T c.(1342-1344)GCC>GTC p.A448V NM_016652 NP_057736 Q9BZJ0 CRNL1_HUMAN crooked neck-like 1 protein 448 HAT 7. spliceosome assembly catalytic step 2 spliceosome|cytoplasm|nuclear speck RNA binding ovary(2)|large_intestine(1) 3 GAGTTCTTGGGCATCTTGTTT 0.373 NA 33 73 0 0 0.010818 0 0 TGM2 7052 broad.mit.edu 37 20 36768012 36768012 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr20:36768012C>A uc002xhr.2 - 9 1244 c.1144G>T c.(1144-1146)GGC>TGC p.G382C TGM2_uc010zvx.1_Missense_Mutation_p.G301C|TGM2_uc010zvy.1_Missense_Mutation_p.G322C|TGM2_uc002xhs.1_Missense_Mutation_p.G358C|TGM2_uc002xht.2_Missense_Mutation_p.G382C NM_004613 NP_004604 P21980 TGM2_HUMAN transglutaminase 2 isoform a 382 apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity large_intestine(1)|lung(1)|ovary(1) 3 Myeloproliferative disorder(115;0.00878) L-Glutamine(DB00130) CTCAGGTCGCCCTCCTTGATG 0.587 NA 9 29 2.17888e-05 2.41732e-05 0.006214 1 0 ZNFX1 57169 broad.mit.edu 37 20 47888276 47888276 + Nonsense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr20:47888276C>A uc002xui.2 - 3 320 c.73G>T c.(73-75)GGA>TGA p.G25* NM_021035 NP_066363 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 25 metal ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GGTAACTCTCCATCCACAGGG 0.483 NA 16 37 6.94344e-10 9.15414e-10 0.006122 1 0 ZNF217 7764 broad.mit.edu 37 20 52198208 52198208 + Silent SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr20:52198208G>T uc002xwq.3 - 1 1429 c.1158C>A c.(1156-1158)ACC>ACA p.T386T ZNF217_uc010gij.1_Silent_p.T378T NM_006526 NP_006517 O75362 ZN217_HUMAN zinc finger protein 217 386 C2H2-type 5. negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1) 6 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) GCTGGTGGTAGGTTCTGAAAG 0.647 NA 17 46 4.14922e-12 5.78137e-12 0.004007 1 0 MYT1 4661 broad.mit.edu 37 20 62839248 62839248 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr20:62839248G>T uc002yii.2 + 7 1063 c.699G>T c.(697-699)CAG>CAT p.Q233H MYT1_uc002yih.2_Intron|MYT1_uc002yij.2_Translation_Start_Site NM_004535 NP_004526 Q01538 MYT1_HUMAN myelin transcription factor 1 233 Glu-rich. cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) AGCGCTCCCAGGACCTGTGTC 0.537 GBM(59;481 1041 20555 21139 33705) NA 7 35 0.00307968 0.00315479 0.00308 1 0 SAMSN1 64092 broad.mit.edu 37 21 15858294 15858294 + Missense_Mutation SNP A A T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr21:15858294A>T uc002yju.1 - 8 1143 c.1061T>A c.(1060-1062)CTG>CAG p.L354Q SAMSN1_uc010gky.1_Missense_Mutation_p.L186Q|SAMSN1_uc002yjv.1_Missense_Mutation_p.L422Q NM_022136 NP_071419 Q9NSI8 SAMN1_HUMAN SAM domain, SH3 domain and nuclear localization 354 negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding ovary(3)|pancreas(1) 4 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) TTCAGACTCCAGATCCTCTTT 0.403 NA 37 83 0 0 0.010771 0 0 BACH1 571 broad.mit.edu 37 21 30699100 30699100 + Nonsense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr21:30699100G>T uc002ynj.2 + 3 1070 c.955G>T c.(955-957)GGA>TGA p.G319* BACH1_uc002ynk.2_Nonsense_Mutation_p.G319*|BACH1_uc002ynl.2_RNA NM_001186 NP_001177 O14867 BACH1_HUMAN BTB and CNC homology 1 transcription factor 319 nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|liver(1) 2 AGACCCTCATGGACTTTATTC 0.398 NA 51 120 9.40368e-32 1.66547e-31 0.00361 1 0 CYTSA 23384 broad.mit.edu 37 22 24718430 24718430 + Silent SNP T T A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr22:24718430T>A uc002zzw.2 + 5 1789 c.1482T>A c.(1480-1482)CGT>CGA p.R494R CYTSA_uc002zzv.3_Silent_p.R494R|CYTSA_uc011ajq.1_Silent_p.R494R NM_015330 NP_056145 Q69YQ0 CYTSA_HUMAN cytospin A 494 Potential. cell cycle|cell division 0 TAGAGCAACGTTACATGGACC 0.418 NA 34 89 0 0 0.004289 0 0 C22orf28 51493 broad.mit.edu 37 22 32802692 32802692 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr22:32802692C>A uc003amm.2 - 4 428 c.297G>T c.(295-297)ATG>ATT p.M99I C22orf28_uc011ama.1_RNA NM_014306 NP_055121 Q9Y3I0 RTCB_HUMAN hypothetical protein LOC51493 99 cell-matrix adhesion|substrate adhesion-dependent cell spreading|tRNA splicing, via endonucleolytic cleavage and ligation cytoplasm|tRNA-splicing ligase complex ATP binding|metal ion binding|RNA ligase (ATP) activity|vinculin binding 0 CAAAGGCTGCCATGTTCCCAA 0.388 NA 46 113 2.37804e-12 3.36126e-12 0.00361 1 0 RANGAP1 5905 broad.mit.edu 37 22 41670684 41670684 + Silent SNP G G A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr22:41670684G>A uc003azs.2 - 2 1630 c.160C>T c.(160-162)CTG>TTG p.L54L RANGAP1_uc003azt.2_Silent_p.L54L|RANGAP1_uc003azu.2_Silent_p.L54L|RANGAP1_uc011aoz.1_Silent_p.L44L NM_002883 NP_002874 P46060 RAGP1_HUMAN Ran GTPase activating protein 1 54 LRR 1. mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity 0 TCCAGACGCAGAGCCTCCAAG 0.512 NA 7 100 0 0 0.00308 0 0 EFCAB6 64800 broad.mit.edu 37 22 44083357 44083357 + Missense_Mutation SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr22:44083357C>T uc003bdy.1 - 11 1351 c.1136G>A c.(1135-1137)AGA>AAA p.R379K EFCAB6_uc003bdz.1_Missense_Mutation_p.R227K|EFCAB6_uc010gzi.1_Missense_Mutation_p.R227K|EFCAB6_uc010gzk.1_Intron|EFCAB6_uc011aqa.1_Intron|EFCAB6_uc003bea.1_Missense_Mutation_p.R376K NM_022785 NP_073622 Q5THR3 EFCB6_HUMAN CAP-binding protein complex interacting protein 379 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 7 Ovarian(80;0.0247)|all_neural(38;0.025) ATACCTATTTCTTTTTGTCAG 0.308 NA 6 27 0 0 0.001168 0 0 SCN5A 6331 broad.mit.edu 37 3 38628930 38628930 + Silent SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr3:38628930G>T uc003cio.2 - 15 2591 c.2397C>A c.(2395-2397)TCC>TCA p.S799S SCN5A_uc003cin.2_Silent_p.S799S|SCN5A_uc003cil.3_Silent_p.S799S|SCN5A_uc010hhi.2_Silent_p.S799S|SCN5A_uc010hhk.2_Silent_p.S799S|SCN5A_uc011ayr.1_Silent_p.S799S|SCN5A_uc010hhj.1_Silent_p.S410S NM_198056 NP_932173 Q14524 SCN5A_HUMAN voltage-gated sodium channel type V alpha 799 Helical; Name=S3 of repeat II; (Potential). blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1) 9 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) TGCTCATGCGGGACAGGCCCA 0.597 NA 6 29 0.00116845 0.00121817 0.001168 1 0 RBM6 10180 broad.mit.edu 37 3 50006042 50006042 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr3:50006042G>T uc003cyc.2 + 3 1317 c.1184G>T c.(1183-1185)GGG>GTG p.G395V RBM6_uc011bdh.1_RNA|RBM6_uc010hlc.1_Intron|RBM6_uc003cyd.2_Intron|RBM6_uc003cye.2_Intron|RBM6_uc011bdi.1_Intron|RBM6_uc010hld.1_Intron|RBM6_uc010hle.1_Intron|RBM6_uc010hlf.1_Intron NM_005777 NP_005768 P78332 RBM6_HUMAN RNA binding motif protein 6 395 RNA processing nucleus DNA binding|nucleotide binding|RNA binding|zinc ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) GACTTTCTTGGGCGGCAAGAC 0.493 NA 27 63 3.65163e-15 5.50553e-15 0.00632 1 0 CCDC52 152185 broad.mit.edu 37 3 113212121 113212121 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr3:113212121C>A uc003eag.3 - 6 715 c.424G>T c.(424-426)GGT>TGT p.G142C CCDC52_uc003eaf.3_RNA|CCDC52_uc003eah.1_Missense_Mutation_p.G38C NM_144718 NP_653319 Q8N0Z3 SPICE_HUMAN coiled-coil domain containing 52 142 cell division|mitosis centriole|spindle protein binding 0 ACAATGGGACCCTGAGAGGAA 0.398 NA 16 27 7.07596e-05 7.6765e-05 0.006122 1 0 KALRN 8997 broad.mit.edu 37 3 124211723 124211723 + Missense_Mutation SNP G G A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr3:124211723G>A uc003ehg.2 + 32 4947 c.4820G>A c.(4819-4821)AGT>AAT p.S1607N KALRN_uc010hrv.1_Missense_Mutation_p.S1598N|KALRN_uc003ehf.1_Missense_Mutation_p.S1607N|KALRN_uc011bjy.1_Missense_Mutation_p.S1598N NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 1607 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 AGGAACAATAGTAAGAGGTAA 0.507 NA 20 42 0 0 0.010504 0 0 Unknown 0 broad.mit.edu 37 3 126915575 126915575 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr3:126915575G>T uc003eji.1 + 2 287 c.47G>T c.(46-48)CGT>CTT p.R16L RecName: Full=Putative uncharacterized protein C3orf56; NA AAGGTCCGCCGTGCCTTCGAG 0.607 NA 7 14 2.7689e-08 3.40609e-08 0.001984 1 0 RUVBL1 8607 broad.mit.edu 37 3 127823653 127823653 + Missense_Mutation SNP A A C rs150247734 TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr3:127823653A>C uc003ekh.2 - 4 580 c.476T>G c.(475-477)ATA>AGA p.I159R RUVBL1_uc003ekf.2_Missense_Mutation_p.I99R|RUVBL1_uc010hss.2_Missense_Mutation_p.I159R NM_003707 NP_003698 Q9Y265 RUVB1_HUMAN RuvB-like 1 159 cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix ATP binding|DNA helicase activity|protein binding skin(1) 1 GBM - Glioblastoma multiforme(114;0.181) tttgagtcctatgatcacatg 0.239 NA 18 40 0 0 0.00499 0 0 ZIC1 7545 broad.mit.edu 37 3 147128353 147128353 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr3:147128353G>T uc003ewe.2 + 1 1173 c.454G>T c.(454-456)GGC>TGC p.G152C NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 152 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 GCAGGCTGCCGGCCACGCGTC 0.716 NA 6 18 4.096e-09 5.19062e-09 0.001168 1 0 SI 6476 broad.mit.edu 37 3 164767594 164767594 + Missense_Mutation SNP G G C TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr3:164767594G>C uc003fei.2 - 14 1644 c.1582C>G c.(1582-1584)CCA>GCA p.P528A NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 528 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) GTAAACGGTGGATAATTCAAT 0.279 NA HNSCC(35;0.089) 10 36 0 0 0.010729 0 0 FNDC3B 64778 broad.mit.edu 37 3 172058969 172058969 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr3:172058969G>T uc003fhy.2 + 17 2091 c.1919G>T c.(1918-1920)GGC>GTC p.G640V FNDC3B_uc003fhz.3_Missense_Mutation_p.G640V NM_022763 NP_073600 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 640 Fibronectin type-III 4. endoplasmic reticulum|integral to membrane ovary(2)|breast(1) 3 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) TTGAAACCAGGCACTTTGTAC 0.468 NA 46 118 1.23713e-20 2.11463e-20 0.00361 1 0 EVC2 132884 broad.mit.edu 37 4 5570366 5570366 + Missense_Mutation SNP T T A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr4:5570366T>A uc003gij.2 - 20 3416 c.3362A>T c.(3361-3363)GAG>GTG p.E1121V EVC2_uc011bwb.1_Missense_Mutation_p.E561V|EVC2_uc003gik.2_Missense_Mutation_p.E1041V NM_147127 NP_667338 Q86UK5 LBN_HUMAN limbin 1121 integral to membrane large_intestine(3)|ovary(2) 5 CAGTCTCAGCTCCTACAGGAA 0.562 NA 7 9 0 0 0.001984 0 0 PI4K2B 55300 broad.mit.edu 37 4 25262192 25262192 + Nonsense_Mutation SNP T T A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr4:25262192T>A uc003grk.2 + 6 1090 c.957T>A c.(955-957)TGT>TGA p.C319* PI4K2B_uc011bxs.1_Nonsense_Mutation_p.C223* NM_018323 NP_060793 Q8TCG2 P4K2B_HUMAN phosphatidylinositol 4-kinase type 2 beta 319 PI3K/PI4K. cytoplasm|membrane 1-phosphatidylinositol 4-kinase activity|ATP binding ovary(2)|skin(2) 4 Breast(46;0.173) AGCAGAAATGTGAAAAGGAAA 0.229 NA 28 54 0 0 0.009535 0 0 PI4K2B 55300 broad.mit.edu 37 4 25262206 25262206 + Missense_Mutation SNP A A C TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr4:25262206A>C uc003grk.2 + 6 1104 c.971A>C c.(970-972)GAC>GCC p.D324A PI4K2B_uc011bxs.1_Missense_Mutation_p.D228A NM_018323 NP_060793 Q8TCG2 P4K2B_HUMAN phosphatidylinositol 4-kinase type 2 beta 324 PI3K/PI4K. cytoplasm|membrane 1-phosphatidylinositol 4-kinase activity|ATP binding ovary(2)|skin(2) 4 Breast(46;0.173) AAGGAAATTGACCATAAGGTA 0.194 NA 20 44 0 0 0.012319 0 0 ARAP2 116984 broad.mit.edu 37 4 36109211 36109211 + Missense_Mutation SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr4:36109211C>T uc003gsq.1 - 27 4599 c.4261G>A c.(4261-4263)GCT>ACT p.A1421T NM_015230 NP_056045 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 1421 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 ATTGTGTCAGCGGTTAAGAAT 0.423 NA 26 72 0 0 0.007291 0 0 PDGFRA 5156 broad.mit.edu 37 4 55151611 55151611 + Silent SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr4:55151611C>A uc003han.3 + 17 2728 c.2397C>A c.(2395-2397)ACC>ACA p.T799T PDGFRA_uc003haa.2_Silent_p.T559T NM_006206 NP_006197 P16234 PGFRA_HUMAN platelet-derived growth factor receptor alpha 799 Protein kinase.|Cytoplasmic (Potential). cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1) 674 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) TGAGCTTCACCTATCAAGTTG 0.393 Pancreas(151;208 1913 7310 23853 37092) NA Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) 28 43 3.73988e-18 6.04135e-18 0.00632 1 0 PDGFRA 5156 broad.mit.edu 37 4 55155207 55155207 + Nonsense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr4:55155207G>T uc003han.3 + 21 3137 c.2806G>T c.(2806-2808)GAG>TAG p.E936* PDGFRA_uc003haa.2_Nonsense_Mutation_p.E696* NM_006206 NP_006197 P16234 PGFRA_HUMAN platelet-derived growth factor receptor alpha 936 Protein kinase.|Cytoplasmic (Potential). cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1) 674 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) CTGGAACAGTGAGCCGGAGAA 0.537 Pancreas(151;208 1913 7310 23853 37092) NA Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) 13 35 1.49906e-05 1.66941e-05 0.00245 1 0 KDR 3791 broad.mit.edu 37 4 55981449 55981449 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr4:55981449G>T uc003has.2 - 4 790 c.488C>A c.(487-489)GCA>GAA p.A163E KDR_uc003hat.1_Missense_Mutation_p.A163E|KDR_uc011bzx.1_Missense_Mutation_p.A163E NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 163 Ig-like C2-type 2.|Extracellular (Potential). angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1) 33 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) GCAACTTACTGCACAAAGTGA 0.358 NA Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) 11 20 1.08611e-07 1.29803e-07 0.010729 1 0 PPAT 5471 broad.mit.edu 37 4 57272723 57272723 + Missense_Mutation SNP G G A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr4:57272723G>A uc003hbr.2 - 3 542 c.340C>T c.(340-342)CAT>TAT p.H114Y NM_002703 NP_002694 Q06203 PUR1_HUMAN phosphoribosyl pyrophosphate amidotransferase 114 Glutamine amidotransferase type-2. glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process cytosol 4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding 0 Glioma(25;0.08)|all_neural(26;0.101) L-Glutamine(DB00130)|Thioguanine(DB00352) ATCTTCCCATGAAGTGTTTCA 0.383 NA 5 113 0 0 0.001984 0 0 REST 5978 broad.mit.edu 37 4 57798155 57798155 + Missense_Mutation SNP G G A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr4:57798155G>A uc003hch.2 + 4 3478 c.3131G>A c.(3130-3132)AGA>AAA p.R1044K REST_uc003hci.2_Missense_Mutation_p.R1044K|REST_uc010ihf.2_Missense_Mutation_p.R718K NM_005612 NP_005603 Q13127 REST_HUMAN RE1-silencing transcription factor 1044 Interaction with RCOR1. cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent cytoplasm|transcriptional repressor complex calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1) 9 Glioma(25;0.08)|all_neural(26;0.181) GAATCTAGCAGAAAAAATGCA 0.443 NA 4 60 0 0 0.000602 0 0 LPHN3 23284 broad.mit.edu 37 4 62599194 62599194 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr4:62599194G>T uc010ihh.2 + 5 1290 c.1117G>T c.(1117-1119)GAC>TAC p.D373Y LPHN3_uc003hcq.3_Missense_Mutation_p.D373Y|LPHN3_uc010ihg.1_Missense_Mutation_p.D441Y|LPHN3_uc003hcs.1_Missense_Mutation_p.D202Y NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 373 Extracellular (Potential).|Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 CAACCCCAGGGACAACCTACT 0.398 NA 9 20 0.000274275 0.000289021 0.004482 1 0 SLC10A6 345274 broad.mit.edu 37 4 87770045 87770045 + Missense_Mutation SNP T T A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr4:87770045T>A uc003hqd.2 - 1 372 c.224A>T c.(223-225)CAG>CTG p.Q75L NM_197965 NP_932069 Q3KNW5 SOAT_HUMAN sodium-dependent organic anion transporter 75 Helical; (Potential). integral to membrane|plasma membrane bile acid:sodium symporter activity 0 Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248) OV - Ovarian serous cystadenocarcinoma(123;0.00099) GAGCCCAAACTGGCAGAGCAG 0.552 NA 16 38 0 0 0.004007 0 0 TET2 54790 broad.mit.edu 37 4 106157551 106157551 + Missense_Mutation SNP C C G TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr4:106157551C>G uc003hxk.2 + 3 2838 c.2452C>G c.(2452-2454)CCT>GCT p.P818A TET2_uc011cez.1_Missense_Mutation_p.P839A|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.P818A|TET2_uc003hxi.1_Missense_Mutation_p.P818A NM_001127208 NP_001120680 Q6N021 TET2_HUMAN tet oncogene family member 2 isoform a 818 Gln-rich. cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.S817fs*2(1) haematopoietic_and_lymphoid_tissue(732)|pancreas(1) 733 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) TAGAAATTCCCCTTATAGTCA 0.363 NA Mis N|F MDS 6 64 0 0 0.001168 0 0 COL25A1 84570 broad.mit.edu 37 4 109745365 109745365 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr4:109745365C>A uc003hze.1 - 34 2341 c.1810G>T c.(1810-1812)GGT>TGT p.G604C COL25A1_uc003hzg.2_Missense_Mutation_p.G604C|COL25A1_uc003hzd.2_RNA|COL25A1_uc003hzf.2_Missense_Mutation_p.G392C NM_198721 NP_942014 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 isoform 1 604 Extracellular (Potential).|Collagen-like 7. collagen|extracellular space beta-amyloid binding|heparin binding ovary(2) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) CCCTTCTCACCCCGTGGACCA 0.413 NA 17 59 5.3912e-06 6.07285e-06 0.006122 1 0 SPATA5 166378 broad.mit.edu 37 4 123949440 123949440 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr4:123949440G>T uc003iez.3 + 11 2042 c.1969G>T c.(1969-1971)GGT>TGT p.G657C SPATA5_uc003iey.2_Missense_Mutation_p.G656C NM_145207 NP_660208 Q8NB90 SPAT5_HUMAN spermatogenesis associated 5 657 cell differentiation|multicellular organismal development|spermatogenesis mitochondrion ATP binding|nucleoside-triphosphatase activity 0 CATTCGAATGGGTATTCAGCC 0.448 NA 36 104 1.57351e-24 2.73736e-24 0.003755 1 0 FAT4 79633 broad.mit.edu 37 4 126411059 126411059 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr4:126411059G>T uc003ifj.3 + 17 13082 c.13082G>T c.(13081-13083)GGT>GTT p.G4361V FAT4_uc011cgp.1_Missense_Mutation_p.G2602V|FAT4_uc003ifi.1_Missense_Mutation_p.G1838V NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 4361 Laminin G-like 2.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 CTCCCAGCAGGTTTTGATGGC 0.418 NA 56 111 2.43277e-16 3.80444e-16 0.00361 1 0 INPP4B 8821 broad.mit.edu 37 4 143159166 143159166 + Splice_Site SNP T T C TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr4:143159166T>C uc003iix.3 - 13 1284 c.689_splice c.e13-1 p.V230_splice INPP4B_uc003iiw.3_Splice_Site_p.V230_splice|INPP4B_uc011chm.1_Splice_Site|INPP4B_uc011chn.1_Splice_Site_p.V45_splice|INPP4B_uc011cho.1_Splice_Site|INPP4B_uc011chp.1_Splice_Site_p.V101_splice NM_003866 NP_003857 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity ovary(1)|lung(1) 2 all_hematologic(180;0.158) TCTTTAACACTGGAAAAAAAA 0.313 NA 4 19 0 0 0.009096 0 0 FAM105A 54491 broad.mit.edu 37 5 14601073 14601073 + Splice_Site SNP G G C TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr5:14601073G>C uc003jfj.2 + 2 178 c.65_splice c.e2-1 p.G22_splice NM_019018 NP_061891 Q9NUU6 F105A_HUMAN hypothetical protein LOC54491 ovary(1) 1 Lung NSC(4;0.00592) AATTTTCATAGGAAGTGACCA 0.353 NA 16 24 0 0 0.004007 0 0 PRDM9 56979 broad.mit.edu 37 5 23527675 23527675 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr5:23527675C>A uc003jgo.2 + 11 2660 c.2478C>A c.(2476-2478)CAC>CAA p.H826Q NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 826 C2H2-type 12. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 AGAGGACACACACAGGGGAGA 0.582 NA HNSCC(3;0.000094) 48 165 3.89483e-19 6.43303e-19 0.00361 1 0 CRHBP 1393 broad.mit.edu 37 5 76249022 76249022 + Silent SNP G G A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr5:76249022G>A uc003ker.2 + 1 343 c.63G>A c.(61-63)GGG>GGA p.G21G CRHBP_uc010izx.2_Silent_p.G21G NM_001882 NP_001873 P24387 CRHBP_HUMAN corticotropin releasing hormone binding protein 21 female pregnancy|learning or memory|signal transduction soluble fraction 0 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41) CTCTAAGAGGGGAAAGCCGGT 0.597 NA 8 21 0 0 0.00308 0 0 VCAN 1462 broad.mit.edu 37 5 82835845 82835845 + Silent SNP A A T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr5:82835845A>T uc003kii.3 + 8 7379 c.7023A>T c.(7021-7023)GCA>GCT p.A2341A VCAN_uc003kij.3_Silent_p.A1354A|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Silent_p.A1005A NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 2341 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) ACACTGGAGCAGAAGGACCCA 0.468 NA 21 69 0 0 0.010504 0 0 SHROOM1 134549 broad.mit.edu 37 5 132159951 132159951 + Missense_Mutation SNP T T C TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr5:132159951T>C uc003kxx.2 - 7 2207 c.1402A>G c.(1402-1404)AGC>GGC p.S468G SHROOM1_uc003kxy.1_Missense_Mutation_p.S468G NM_133456 NP_597713 Q2M3G4 SHRM1_HUMAN shroom family member 1 468 actin filament bundle assembly|cell morphogenesis cytoplasm|microtubule actin filament binding pancreas(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GGGGTGTGGCTTGTGGGCCTG 0.567 NA 18 35 0 0 0.006122 0 0 PCDHA6 56142 broad.mit.edu 37 5 140209817 140209817 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr5:140209817C>A uc003lho.2 + 1 2168 c.2141C>A c.(2140-2142)ACG>AAG p.T714K PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Missense_Mutation_p.T714K NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 714 Helical; (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) CTGGTCCTCACGCTACTGCTG 0.706 NA 28 96 1.16021e-09 1.5093e-09 0.007291 1 0 PCDHA13 56136 broad.mit.edu 37 5 140264050 140264050 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr5:140264050G>T uc003lif.2 + 1 2197 c.2197G>T c.(2197-2199)GCG>TCG p.A733S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.A733S|PCDHA13_uc003lid.2_Missense_Mutation_p.A733S NM_018904 NP_061727 Q9Y5I0 PCDAD_HUMAN protocadherin alpha 13 isoform 1 precursor 733 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGCGCGTGCGCGCCGGGCAA 0.672 Melanoma(147;1739 1852 5500 27947 37288) NA 26 92 1.03484e-13 1.50615e-13 0.005524 1 0 PCDHAC2 56134 broad.mit.edu 37 5 140347559 140347559 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr5:140347559G>T uc003lii.2 + 1 1448 c.1208G>T c.(1207-1209)GGT>GTT p.G403V PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Missense_Mutation_p.G403V NM_018899 NP_061722 Q9Y5I4 PCDC2_HUMAN protocadherin alpha subfamily C, 2 isoform 1 403 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGAGCCTGGGTCTGGAGGCC 0.567 Melanoma(190;638 2083 3390 11909 52360) NA 20 85 0.00152264 0.00158182 0.010504 1 0 PCDHB3 56132 broad.mit.edu 37 5 140481682 140481682 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr5:140481682C>A uc003lio.2 + 1 1449 c.1449C>A c.(1447-1449)AAC>AAA p.N483K uc003lin.2_Intron NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN protocadherin beta 3 precursor 483 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAGGCACCAACGCCCAGGTAA 0.632 NA 65 188 9.68594e-22 1.6751e-21 0.00361 1 0 PCDHB9 56127 broad.mit.edu 37 5 140567037 140567037 + Missense_Mutation SNP G G C TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr5:140567037G>C uc003liw.1 + 1 145 c.145G>C c.(145-147)GCA>CCA p.A49P NM_019119 NP_061992 Q9Y5E1 PCDB9_HUMAN protocadherin beta 9 precursor 49 Extracellular (Potential).|Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGTCAATCTGGCAAAGGATCT 0.502 NA 31 63 0 0 0.00874 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140720462 140720462 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr5:140720462C>A uc003ljk.1 + 1 2109 c.1924C>A c.(1924-1926)CTC>ATC p.L642I PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.L642I NM_018915 NP_061738 Q9Y5H1 PCDG2_HUMAN protocadherin gamma subfamily A, 2 isoform 1 642 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAAGCAGAGCCTCGTGGTGGC 0.701 NA 52 110 1.66251e-12 2.36124e-12 0.00361 1 0 PCDHGB4 8641 broad.mit.edu 37 5 140769345 140769345 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr5:140769345G>T uc003lkc.1 + 1 1894 c.1894G>T c.(1894-1896)GAC>TAC p.D632Y PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.D632Y NM_003736 NP_003727 Q9UN71 PCDGG_HUMAN protocadherin gamma subfamily B, 4 isoform 1 632 Extracellular (Potential).|Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCCTTAGGCGACAGGGACGC 0.697 NA 25 50 1.64293e-13 2.37942e-13 0.00333 1 0 ARAP3 64411 broad.mit.edu 37 5 141050083 141050083 + Silent SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr5:141050083C>A uc003llm.2 - 14 2181 c.2103G>T c.(2101-2103)CGG>CGT p.R701R ARAP3_uc011dbe.1_Silent_p.R363R|ARAP3_uc003lln.2_Silent_p.R603R NM_022481 NP_071926 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 701 cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding breast(5)|ovary(1)|large_intestine(1) 7 CCTCACCATCCCGGCCCCTGC 0.602 NA 42 121 2.64894e-19 4.39994e-19 0.00361 1 0 GABRA6 2559 broad.mit.edu 37 5 161128508 161128508 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr5:161128508C>A uc003lyu.2 + 9 1429 c.1091C>A c.(1090-1092)CCT>CAT p.P364H GABRA6_uc003lyv.2_Missense_Mutation_p.P135H NM_000811 NP_000802 Q16445 GBRA6_HUMAN gamma-aminobutyric acid A receptor, alpha 6 364 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CCACAGCATCCTGACTCCAAA 0.358 NA TCGA Ovarian(5;0.080) 30 93 2.81731e-10 3.7995e-10 0.010818 1 0 BRD2 6046 broad.mit.edu 37 6 32943871 32943871 + Missense_Mutation SNP T T G TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr6:32943871T>G uc003ocn.3 + 5 2236 c.535T>G c.(535-537)TCA>GCA p.S179A BRD2_uc003oco.2_RNA|BRD2_uc003ocq.3_Missense_Mutation_p.S179A|BRD2_uc003ocp.3_Missense_Mutation_p.S59A|BRD2_uc010juh.2_Missense_Mutation_p.S179A NM_005104 NP_005095 P25440 BRD2_HUMAN bromodomain containing 2 179 spermatogenesis nucleus protein serine/threonine kinase activity central_nervous_system(3)|stomach(2) 5 GAAGGTTGCATCAATGCCACA 0.438 NA 20 43 0 0 0.007413 0 0 PIM1 5292 broad.mit.edu 37 6 37138393 37138393 + Silent SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr6:37138393C>T uc003onk.2 + 1 472 c.42C>T c.(40-42)GCC>GCT p.A14A PIM1_uc011dtw.1_5'Flank NM_002648 NP_002639 P11309 PIM1_HUMAN non-specific serine/threonine protein kinase 105 cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation cytoplasm|nucleus|plasma membrane ATP binding|manganese ion binding|protein binding|protein binding|protein serine/threonine kinase activity|transcription factor binding large_intestine(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(102;0.241) Adenosine monophosphate(DB00131) ACCTGCGCGCCGCGCCCTGCA 0.721 NA T BCL6 NHL 7 36 0 0 0.001984 0 0 PHF3 23469 broad.mit.edu 37 6 64394074 64394074 + Missense_Mutation SNP A A G TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr6:64394074A>G uc003pep.1 + 3 477 c.451A>G c.(451-453)AAT>GAT p.N151D PHF3_uc010kaf.1_Missense_Mutation_p.N151D|PHF3_uc003pem.2_Missense_Mutation_p.N104D|PHF3_uc010kag.1_Missense_Mutation_p.N63D|PHF3_uc010kah.1_5'UTR|PHF3_uc003pen.2_Missense_Mutation_p.N63D|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.2_Missense_Mutation_p.N151D NM_015153 NP_055968 Q92576 PHF3_HUMAN PHD finger protein 3 151 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding ovary(3)|lung(1)|skin(1) 5 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) CAAGCGTTCAAATGCAGCACC 0.373 GBM(135;136 1820 29512 34071 46235) NA 48 117 0 0 0.00361 0 0 BAI3 577 broad.mit.edu 37 6 70070841 70070841 + Nonsense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr6:70070841G>T uc003pev.3 + 29 4124 c.3676G>T c.(3676-3678)GAA>TAA p.E1226* BAI3_uc010kak.2_Nonsense_Mutation_p.E1226*|BAI3_uc011dxx.1_Nonsense_Mutation_p.E432* NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1226 Cytoplasmic (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) TGATGATGAAGAAGAAAAGGG 0.423 NA 16 40 4.7546e-09 5.99937e-09 0.004007 1 0 COL19A1 1310 broad.mit.edu 37 6 70831782 70831782 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr6:70831782G>T uc003pfc.1 + 17 1406 c.1289G>T c.(1288-1290)GGA>GTA p.G430V COL19A1_uc010kam.1_Missense_Mutation_p.G326V NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 430 cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 GGACCTCCTGGAATACAAGGA 0.269 NA 19 53 3.8784e-16 5.9699e-16 0.012319 1 0 DOPEY1 23033 broad.mit.edu 37 6 83823102 83823102 + Missense_Mutation SNP G G A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr6:83823102G>A uc003pjs.1 + 7 1002 c.742G>A c.(742-744)GAC>AAC p.D248N DOPEY1_uc011dyy.1_Missense_Mutation_p.D248N|DOPEY1_uc010kbl.1_Missense_Mutation_p.D248N NM_015018 NP_055833 Q5JWR5 DOP1_HUMAN dopey family member 1 248 protein transport ovary(2)|breast(1)|central_nervous_system(1) 4 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) AAGCACACTGGACCTCATACT 0.373 NA 17 56 0 0 0.010504 0 0 EPHA7 2045 broad.mit.edu 37 6 94066441 94066441 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr6:94066441G>T uc003poe.2 - 5 1559 c.1318C>A c.(1318-1320)CAA>AAA p.Q440K EPHA7_uc003pof.2_Missense_Mutation_p.Q440K|EPHA7_uc011eac.1_Missense_Mutation_p.Q440K NM_004440 NP_004431 Q15375 EPHA7_HUMAN ephrin receptor EphA7 precursor 440 Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1) 28 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) ATACCTGCTTGACCAGTGGTG 0.408 NA 23 52 3.01185e-09 3.84993e-09 0.003954 1 0 SMPD2 6610 broad.mit.edu 37 6 109762562 109762562 + Missense_Mutation SNP G G A rs138354272 TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr6:109762562G>A uc003pti.2 + 2 447 c.53G>A c.(52-54)GGC>GAC p.G18D PPIL6_uc003ptg.3_5'Flank|PPIL6_uc010kdo.2_5'Flank|PPIL6_uc010kdp.2_5'Flank|PPIL6_uc003pth.1_5'Flank|SMPD2_uc010kdq.2_Missense_Mutation_p.G18D NM_003080 NP_003071 O60906 NSMA_HUMAN sphingomyelin phosphodiesterase 2, neutral 18 induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process integral to plasma membrane metal ion binding|sphingomyelin phosphodiesterase activity 0 all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548) Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566) TTCCTTAGGGGCATTCCGTAC 0.627 NA 3 51 0 0 0.004672 0 0 RFX6 222546 broad.mit.edu 37 6 117198593 117198593 + Missense_Mutation SNP A A T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr6:117198593A>T uc003pxm.2 + 1 218 c.155A>T c.(154-156)CAG>CTG p.Q52L NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 52 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding ovary(1)|pancreas(1)|skin(1) 3 GCCGAAGGGCAGCCCGGGGGC 0.657 NA 3 9 0 0 0.009096 0 0 THEMIS 387357 broad.mit.edu 37 6 128134635 128134635 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr6:128134635G>T uc003qbi.2 - 5 1470 c.1151C>A c.(1150-1152)TCT>TAT p.S384Y THEMIS_uc010kfa.2_Missense_Mutation_p.S287Y|THEMIS_uc011ebt.1_Missense_Mutation_p.S384Y|THEMIS_uc010kfb.2_Missense_Mutation_p.S349Y NM_001010923 NP_001010923 Q8N1K5 THMS1_HUMAN thymocyte selection pathway associated isoform 384 CABIT 2. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus ovary(2)|skin(2) 4 GTCCCCAACAGATACGGATGA 0.488 NA 34 77 3.11337e-16 4.84303e-16 0.002836 1 0 INTS1 26173 broad.mit.edu 37 7 1538656 1538656 + Silent SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr7:1538656C>A uc003skn.2 - 8 1193 c.1092G>T c.(1090-1092)CGG>CGT p.R364R INTS1_uc003skq.2_Silent_p.R364R NM_001080453 NP_001073922 Q8N201 INT1_HUMAN integrator complex subunit 1 364 snRNA processing integral to membrane|integrator complex|nuclear membrane 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) CCGCCAGCAGCCGCACCTCCT 0.557 NA 6 4 3.59834e-05 3.96221e-05 0.001168 1 0 BBS9 27241 broad.mit.edu 37 7 33313545 33313545 + Silent SNP A A T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr7:33313545A>T uc003tdn.1 + 9 1506 c.993A>T c.(991-993)GTA>GTT p.V331V BBS9_uc003tdo.1_Silent_p.V331V|BBS9_uc003tdp.1_Silent_p.V331V|BBS9_uc003tdq.1_Silent_p.V331V|BBS9_uc010kwn.1_RNA|BBS9_uc011kan.1_Silent_p.V331V|BBS9_uc011kao.1_Silent_p.V209V NM_198428 NP_940820 Q3SYG4 PTHB1_HUMAN parathyroid hormone-responsive B1 isoform 2 331 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GBM - Glioblastoma multiforme(11;0.0894) ACATTCCTGTAGCAGTAAGAG 0.343 NA Bardet-Biedl_syndrome 12 40 0 0 0.001855 0 0 WBSCR17 64409 broad.mit.edu 37 7 71175827 71175827 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr7:71175827G>T uc003tvy.2 + 10 1582 c.1582G>T c.(1582-1584)GTG>TTG p.V528L WBSCR17_uc003tvz.2_Missense_Mutation_p.V227L NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN UDP-GalNAc:polypeptide 528 Ricin B-type lectin.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1) 7 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) CCGCTGCCTGGTGGACAACTC 0.607 NA 19 66 1.56452e-12 2.23286e-12 0.007413 1 0 RHBDD2 57414 broad.mit.edu 37 7 75511505 75511505 + Silent SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr7:75511505C>T uc003udw.1 + 2 621 c.537C>T c.(535-537)CCC>CCT p.P179P RHBDD2_uc003udv.1_Silent_p.P38P NM_001040456 NP_001035546 Q6NTF9 RHBD2_HUMAN rhomboid domain containing 2 isoform a 179 integral to membrane serine-type endopeptidase activity 0 GGCTCATTCCCCAGACCTCTT 0.592 NA 7 32 0 0 0.00308 0 0 STEAP4 79689 broad.mit.edu 37 7 87912286 87912286 + Silent SNP A A G TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr7:87912286A>G uc003ujs.2 - 3 759 c.654T>C c.(652-654)TGT>TGC p.C218C STEAP4_uc010lek.2_Intron|STEAP4_uc003ujt.2_Silent_p.C218C NM_024636 NP_078912 Q687X5 STEA4_HUMAN tumor necrosis factor, alpha-induced protein 9 218 fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity 0 Esophageal squamous(14;0.00802) CTCTTATAACACAATAGAAAA 0.373 NA 28 52 0 0 0.005443 0 0 GTPBP10 85865 broad.mit.edu 37 7 89984398 89984398 + Splice_Site SNP A A T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr7:89984398A>T uc003ukm.1 + 4 386 c.320_splice c.e4-2 p.G107_splice GTPBP10_uc003uki.1_Splice_Site_p.G124_splice|GTPBP10_uc003ukj.1_Splice_Site_p.G98_splice|GTPBP10_uc003ukk.1_Intron|GTPBP10_uc003ukl.1_Splice_Site|GTPBP10_uc003ukn.1_Intron|GTPBP10_uc003uko.1_Intron NM_033107 NP_149098 A4D1E9 GTPBA_HUMAN GTP-binding protein 10 isoform 2 ribosome biogenesis chromosome|nucleolus GTP binding|GTPase activity|magnesium ion binding 0 CCTCTTTTTAAGGAGAACTCA 0.318 NA 21 44 0 0 0.012319 0 0 CALCR 799 broad.mit.edu 37 7 93116272 93116272 + Missense_Mutation SNP G G A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr7:93116272G>A uc003umv.1 - 3 337 c.76C>T c.(76-78)CGG>TGG p.R26W CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.R8W|CALCR_uc003umw.2_Missense_Mutation_p.R8W|MIR489_hsa-mir-489|MI0003124_5'Flank NM_001742 NP_001733 P30988 CALCR_HUMAN calcitonin receptor isoform 2 precursor 8 activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) GCCAAGCACCGGCTTGTAAAT 0.313 NA 32 84 0 0 0.003271 0 0 MUC17 140453 broad.mit.edu 37 7 100677722 100677722 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr7:100677722G>T uc003uxp.1 + 3 3078 c.3025G>T c.(3025-3027)GAC>TAC p.D1009Y MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 1009 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|14. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) AACTCCTGTTGACTCCAACAC 0.522 NA 49 792 1.41219e-46 2.59489e-46 0.00361 1 0 MUC17 140453 broad.mit.edu 37 7 100680018 100680018 + Missense_Mutation SNP T T C TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr7:100680018T>C uc003uxp.1 + 3 5374 c.5321T>C c.(5320-5322)ATT>ACT p.I1774T MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 1774 Extracellular (Potential).|59 X approximate tandem repeats.|27.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) GCAACTCCTATTGACACCAGC 0.498 NA 155 382 0 0 0.00361 0 0 LAMB4 22798 broad.mit.edu 37 7 107752264 107752264 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr7:107752264G>T uc010ljo.1 - 4 404 c.320C>A c.(319-321)TCT>TAT p.S107Y LAMB4_uc003vey.2_Missense_Mutation_p.S107Y NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN laminin, beta 4 precursor 107 Laminin N-terminal. cell adhesion basement membrane ovary(4)|breast(2)|large_intestine(1)|skin(1) 8 ACCATTTTCAGATTGCCACCA 0.343 NA 23 71 1.10923e-09 1.4494e-09 0.00278 1 0 SPAM1 6677 broad.mit.edu 37 7 123593796 123593796 + Missense_Mutation SNP G G A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr7:123593796G>A uc003vld.2 + 4 574 c.172G>A c.(172-174)GAA>AAA p.E58K SPAM1_uc003vle.2_Missense_Mutation_p.E58K|SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vlf.3_Missense_Mutation_p.E58K|SPAM1_uc010lku.2_Missense_Mutation_p.E58K NM_153189 NP_694859 P38567 HYALP_HUMAN sperm adhesion molecule 1 isoform 2 58 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity ovary(3)|kidney(1) 4 Hyaluronidase(DB00070) TGCCCCAAGTGAATTTTGTCT 0.448 NA 8 30 0 0 0.00308 0 0 SND1 27044 broad.mit.edu 37 7 127343309 127343309 + Nonsense_Mutation SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr7:127343309C>T uc003vmi.2 + 7 998 c.772C>T c.(772-774)CAG>TAG p.Q258* NM_014390 NP_055205 Q7KZF4 SND1_HUMAN staphylococcal nuclease domain containing 1 258 TNase-like 2. gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent melanosome|nucleus|RNA-induced silencing complex nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity ovary(2)|central_nervous_system(1) 3 GCGACTGCTTCAGAGAGATGT 0.493 NA 22 47 0 0 0.00278 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146829511 146829511 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr7:146829511G>T uc003weu.1 + 8 1774 c.1258G>T c.(1258-1260)GGC>TGC p.G420C NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 420 Extracellular (Potential).|Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GGATAATTTGGGCAATGTGGA 0.478 NA HNSCC(39;0.1) 13 46 7.03913e-09 8.76908e-09 0.001368 1 0 SGCZ 137868 broad.mit.edu 37 8 14095116 14095116 + Nonsense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr8:14095116C>A uc003wwq.2 - 4 1069 c.409G>T c.(409-411)GGA>TGA p.G137* SGCZ_uc010lss.2_Nonsense_Mutation_p.G90* NM_139167 NP_631906 Q96LD1 SGCZ_HUMAN sarcoglycan zeta 124 Extracellular (Potential). cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma p.G137R(1) ovary(2)|central_nervous_system(1) 3 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) GTCAGCTGTCCGGTTAACTGC 0.338 NA 95 263 1.478e-36 2.64959e-36 0.00361 1 0 CDCA2 157313 broad.mit.edu 37 8 25364831 25364831 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr8:25364831G>T uc003xep.1 + 15 3128 c.2649G>T c.(2647-2649)AGG>AGT p.R883S PPP2R2A_uc003xek.2_Intron|CDCA2_uc011lae.1_3'UTR|CDCA2_uc003xeq.1_Missense_Mutation_p.R868S|CDCA2_uc003xer.1_Missense_Mutation_p.R546S NM_152562 NP_689775 Q69YH5 CDCA2_HUMAN cell division cycle associated 2 883 cell division|mitosis cytoplasm|nucleus 0 all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443) CCTTTCAGAGGAGAAATAGTG 0.423 NA 27 75 1.2476e-16 1.96147e-16 0.00632 1 0 TEX15 56154 broad.mit.edu 37 8 30705213 30705213 + Missense_Mutation SNP A A T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr8:30705213A>T uc003xil.2 - 1 1321 c.1321T>A c.(1321-1323)TAT>AAT p.Y441N NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 441 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) GTTTCTTTATAGTCTCTCTGA 0.338 NA 66 139 0 0 0.00361 0 0 FUT10 84750 broad.mit.edu 37 8 33310750 33310750 + Missense_Mutation SNP T T G TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr8:33310750T>G uc003xje.2 - 3 716 c.360A>C c.(358-360)AAA>AAC p.K120N FUT10_uc003xjc.2_Missense_Mutation_p.K127N|FUT10_uc003xjd.2_Missense_Mutation_p.K92N|FUT10_uc011lbi.1_Missense_Mutation_p.K170N|FUT10_uc003xjf.2_Missense_Mutation_p.S46R|FUT10_uc003xjg.2_Missense_Mutation_p.K92N|FUT10_uc003xjh.2_Missense_Mutation_p.K120N|FUT10_uc003xji.1_Missense_Mutation_p.K120N NM_032664 NP_116053 Q6P4F1 FUT10_HUMAN fucosyltransferase 10 120 Lumenal (Potential). embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154) AGAGGAATGCTTTGGTCATGT 0.507 NA 19 47 0 0 0.00333 0 0 ADRB3 155 broad.mit.edu 37 8 37823632 37823632 + Missense_Mutation SNP A A T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr8:37823632A>T uc003xkr.1 - 1 553 c.356T>A c.(355-357)CTG>CAG p.L119Q NM_000025 NP_000016 P13945 ADRB3_HUMAN adrenergic, beta-3-, receptor 119 Helical; Name=3; (By similarity). carbohydrate metabolic process|energy reserve metabolic process|positive regulation of MAPKKK cascade integral to plasma membrane|receptor complex beta3-adrenergic receptor activity|protein homodimerization activity lung(2) 2 Colorectal(12;0.00627) Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;1.37e-11) Norepinephrine(DB00368)|Pindolol(DB00960)|Propranolol(DB00571) GGTCACACACAGCACGTCCAC 0.692 NA 9 13 0 0 0.006214 0 0 ANK1 286 broad.mit.edu 37 8 41555583 41555583 + Missense_Mutation SNP A A T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr8:41555583A>T uc003xok.2 - 24 2699 c.2615T>A c.(2614-2616)ATC>AAC p.I872N NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.I188N|ANK1_uc003xoi.2_Missense_Mutation_p.I872N|ANK1_uc003xoj.2_Missense_Mutation_p.I872N|ANK1_uc003xol.2_Missense_Mutation_p.I872N|ANK1_uc003xom.2_Missense_Mutation_p.I913N NM_020476 NP_065209 P16157 ANK1_HUMAN ankyrin 1 isoform 1 872 axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(3)|lung(2)|breast(1) 9 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) TTCTGACCTGATCACCACTGT 0.562 NA 12 26 0 0 0.00245 0 0 C8orf37 157657 broad.mit.edu 37 8 96272100 96272100 + Missense_Mutation SNP A A C TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr8:96272100A>C uc003yho.1 - 4 362 c.342T>G c.(340-342)ATT>ATG p.I114M NM_177965 NP_808880 Q96NL8 CH037_HUMAN hypothetical protein LOC157657 114 0 Breast(36;3.41e-05) TCCCACATGGAATAGAGCTTC 0.358 NA 30 57 0 0 0.003271 0 0 CTHRC1 115908 broad.mit.edu 37 8 104388119 104388119 + Missense_Mutation SNP T T C TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr8:104388119T>C uc003ylk.2 + 2 403 c.304T>C c.(304-306)TGG>CGG p.W102R CTHRC1_uc011lhq.1_Missense_Mutation_p.W102R NM_138455 NP_612464 Q96CG8 CTHR1_HUMAN collagen triple helix repeat containing 1 102 collagen ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197) TGAGGAGTCCTGGACACCCAA 0.463 NA 14 29 0 0 0.00245 0 0 PARP10 84875 broad.mit.edu 37 8 145058713 145058713 + Missense_Mutation SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr8:145058713C>T uc003zal.3 - 5 1565 c.1457G>A c.(1456-1458)CGG>CAG p.R486Q PARP10_uc003zak.3_Missense_Mutation_p.R192Q|PARP10_uc011lku.1_Missense_Mutation_p.R498Q|PARP10_uc011lkv.1_RNA|PARP10_uc003zam.2_Missense_Mutation_p.R486Q|PARP10_uc010mfn.1_Missense_Mutation_p.R401Q|PARP10_uc010mfo.1_3'UTR NM_032789 NP_116178 Q53GL7 PAR10_HUMAN poly (ADP-ribose) polymerase family, member 10 486 Golgi apparatus|nucleolus NAD+ ADP-ribosyltransferase activity|nucleotide binding ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1) 6 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GTCACTCACCCGAAAGCCAGT 0.582 NA 25 38 0 0 0.00278 0 0 DMRT3 58524 broad.mit.edu 37 9 990397 990397 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr9:990397C>A uc003zgw.1 + 2 849 c.811C>A c.(811-813)CTC>ATC p.L271I NM_021240 NP_067063 Q9NQL9 DMRT3_HUMAN doublesex and mab-3 related transcription factor 271 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity ovary(2)|central_nervous_system(1) 3 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) TGAGCTCATCCTCAAGGGCTG 0.562 NA 28 47 9.65963e-10 1.26783e-09 0.003271 1 0 SLC24A2 25769 broad.mit.edu 37 9 19786488 19786488 + Missense_Mutation SNP G G A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr9:19786488G>A uc003zoa.1 - 1 439 c.377C>T c.(376-378)TCC>TTC p.S126F SLC24A2_uc003zob.1_Missense_Mutation_p.S126F NM_020344 NP_065077 Q9UI40 NCKX2_HUMAN solute carrier family 24 126 Extracellular (Potential). visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity ovary(3) 3 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) CTCCTCAAGGGAAAAGATGTC 0.438 NA 29 49 0 0 0.008361 0 0 TAF1L 138474 broad.mit.edu 37 9 32631110 32631110 + Nonsense_Mutation SNP G G A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr9:32631110G>A uc003zrg.1 - 1 4558 c.4468C>T c.(4468-4470)CAA>TAA p.Q1490* uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 1490 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) AGCATGGATTGAGAGATCTGA 0.433 NA 36 97 0 0 0.003755 0 0 SPINK4 27290 broad.mit.edu 37 9 33248442 33248442 + Silent SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr9:33248442C>A uc003zsh.2 + 4 245 c.234C>A c.(232-234)ATC>ATA p.I78I SUGT1P1_uc010mjq.1_Intron NM_014471 NP_055286 O60575 ISK4_HUMAN serine peptidase inhibitor, Kazal type 4 78 Kazal-like. extracellular region serine-type endopeptidase inhibitor activity 0 LUSC - Lung squamous cell carcinoma(29;0.00506) AACAGGACATCCAGATCATGA 0.498 NA 5 30 0.000602214 0.000632325 0.000602 1 0 TLN1 7094 broad.mit.edu 37 9 35722169 35722169 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr9:35722169C>A uc003zxt.2 - 9 1249 c.895G>T c.(895-897)GTG>TTG p.V299L NM_006289 NP_006280 Q9Y490 TLN1_HUMAN talin 1 299 FERM.|Interaction with LAYN (By similarity). axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding lung(7)|breast(3)|ovary(2)|central_nervous_system(1) 13 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GCTAGCTTCACGTAGCGGACC 0.488 NA 22 50 1.77063e-15 2.69723e-15 0.005443 1 0 PRUNE2 158471 broad.mit.edu 37 9 79318531 79318531 + Silent SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr9:79318531G>T uc010mpk.2 - 9 8122 c.7998C>A c.(7996-7998)CTC>CTA p.L2666L PRUNE2_uc004akj.3_Silent_p.L119L|PRUNE2_uc010mpl.1_Silent_p.L119L NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 2666 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 CACCCAAGCCGAGTTCAGAGA 0.552 NA 15 37 1.15088e-07 1.36987e-07 0.004007 1 0 SVEP1 79987 broad.mit.edu 37 9 113169975 113169975 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr9:113169975C>A uc010mtz.2 - 38 8242 c.7905G>T c.(7903-7905)GAG>GAT p.E2635D SVEP1_uc010mty.2_Missense_Mutation_p.E561D NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 2635 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 CGTCTTCTTGCTCAAAATATC 0.443 NA 51 166 1.22102e-19 2.05131e-19 0.00361 1 0 PAPPA 5069 broad.mit.edu 37 9 119065076 119065076 + Silent SNP A A C TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr9:119065076A>C uc004bjn.2 + 10 3375 c.2994A>C c.(2992-2994)GTA>GTC p.V998V PAPPA_uc011lxp.1_Silent_p.V693V|PAPPA_uc011lxq.1_Silent_p.V373V NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 998 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 GTGATGGGGTATGTGAGGAGT 0.448 NA 3 65 0 0 0.004672 0 0 OR1J4 26219 broad.mit.edu 37 9 125282323 125282323 + Missense_Mutation SNP G G A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr9:125282323G>A uc011lyw.1 + 1 904 c.904G>A c.(904-906)GAG>AAG p.E302K NM_001004452 NP_001004452 Q8NGS1 OR1J4_HUMAN olfactory receptor, family 1, subfamily J, 302 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GGGAGCCCTGGAGAGACTCTT 0.423 NA 14 38 0 0 0.003163 0 0 CRB2 286204 broad.mit.edu 37 9 126132529 126132529 + Silent SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr9:126132529C>A uc004bnx.1 + 7 1289 c.1197C>A c.(1195-1197)GGC>GGA p.G399G CRB2_uc004bnw.1_Silent_p.G399G NM_173689 NP_775960 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 precursor 399 Extracellular (Potential).|EGF-like 9. extracellular region|integral to membrane|plasma membrane calcium ion binding ovary(1) 1 AGCTCACTGGCTGCCAGGGCC 0.642 NA 18 29 2.94398e-08 3.60638e-08 0.007413 1 0 NUP188 23511 broad.mit.edu 37 9 131747255 131747255 + Missense_Mutation SNP A A T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr9:131747255A>T uc004bws.1 + 20 2060 c.2038A>T c.(2038-2040)ACT>TCT p.T680S NUP188_uc004bwu.2_Missense_Mutation_p.T23S NM_015354 NP_056169 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 680 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1) 7 GTATGGGGTTACTATTGCCTT 0.468 NA OREG0003924 type=REGULATORY REGION|Gene=NUP188|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 22 72 0 0 0.002299 0 0 CACNA1B 774 broad.mit.edu 37 9 140954117 140954117 + Missense_Mutation SNP A A T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr9:140954117A>T uc004cog.2 + 31 4741 c.4596A>T c.(4594-4596)AGA>AGT p.R1532S CACNA1B_uc011mfd.1_Missense_Mutation_p.R1062S|CACNA1B_uc004coi.2_Missense_Mutation_p.R746S NM_000718 NP_000709 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, 1532 Cytoplasmic (Potential).|IV. membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity breast(3)|large_intestine(2)|ovary(1) 6 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) ACTATTTCAGAGATGCCTGGA 0.428 NA 36 84 0 0 0.005524 0 0 ARSF 416 broad.mit.edu 37 X 3019232 3019232 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chrX:3019232C>A uc004cre.1 + 8 1293 c.1072C>A c.(1072-1074)CAA>AAA p.Q358K ARSF_uc004crf.1_Missense_Mutation_p.Q358K NM_004042 NP_004033 P54793 ARSF_HUMAN arylsulfatase F precursor 358 extracellular region arylsulfatase activity|metal ion binding ovary(2) 2 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) AGGGCATGCCCAACTTGGTGG 0.438 NA 37 25 9.73076e-26 1.70288e-25 0.006999 1 0 GEMIN8 54960 broad.mit.edu 37 X 14038355 14038355 + Missense_Mutation SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chrX:14038355C>T uc004cwb.2 - 4 657 c.314G>A c.(313-315)AGG>AAG p.R105K GEMIN8_uc004cwc.2_Missense_Mutation_p.R105K|GEMIN8_uc004cwd.2_Missense_Mutation_p.R105K NM_017856 NP_060326 Q9NWZ8 GEMI8_HUMAN gem (nuclear organelle) associated protein 8 105 spliceosomal snRNP assembly Cajal body|cytoplasm|SMN complex|spliceosomal complex protein binding 0 TGCCTGGATCCTACTGCTGTA 0.483 NA 57 102 0 0 0.00361 0 0 CXorf22 170063 broad.mit.edu 37 X 35966464 35966464 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chrX:35966464C>A uc004ddj.2 + 4 610 c.551C>A c.(550-552)CCC>CAC p.P184H CXorf22_uc010ngv.2_RNA NM_152632 NP_689845 Q6ZTR5 CX022_HUMAN hypothetical protein LOC170063 184 large_intestine(1)|lung(1)|ovary(1) 3 GGCCAATTACCCATCCTCATT 0.403 NA 44 25 2.68985e-26 4.73543e-26 0.00361 1 0 KDM6A 7403 broad.mit.edu 37 X 44918511 44918511 + Missense_Mutation SNP A A T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chrX:44918511A>T uc004dge.3 + 12 1369 c.994A>T c.(994-996)AAT>TAT p.N332Y KDM6A_uc010nhk.2_Missense_Mutation_p.N332Y|KDM6A_uc011mkz.1_Missense_Mutation_p.N332Y|KDM6A_uc011mla.1_Missense_Mutation_p.N332Y|KDM6A_uc011mlb.1_Missense_Mutation_p.N332Y|KDM6A_uc011mlc.1_Missense_Mutation_p.N81Y|KDM6A_uc011mld.1_5'UTR NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide 332 TPR 7. histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2) 84 TCAGCAGCAAAATCAGCCCAT 0.398 Colon(129;1273 1667 15230 27352 52914) NA D|N|F|S renal|oesophageal SCC|MM 13 8 0 0 0.00245 0 0 CACNA1F 778 broad.mit.edu 37 X 49066115 49066115 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chrX:49066115C>A uc004dnb.2 - 41 4890 c.4828G>T c.(4828-4830)GCC>TCC p.A1610S CACNA1F_uc010nip.2_Missense_Mutation_p.A1599S NM_005183 NP_005174 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, 1610 Cytoplasmic (Potential). axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(3)|ovary(1)|kidney(1)|skin(1) 6 Verapamil(DB00661) GTGCTAGGGGCGGCGTCGTTG 0.572 NA 12 7 7.03913e-09 8.76908e-09 0.001368 1 0 MTMR8 55613 broad.mit.edu 37 X 63445215 63445215 + Missense_Mutation SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chrX:63445215C>T uc011mou.1 - 10 1509 c.1441G>A c.(1441-1443)GCA>ACA p.A481T ASB12_uc004dvp.1_Missense_Mutation_p.A97T|ASB12_uc004dvq.1_Missense_Mutation_p.A106T|ASB12_uc004dvr.1_Missense_Mutation_p.A106T NM_017677 NP_060147 Q96EF0 MTMR8_HUMAN myotubularin related protein 8 Error:Variant_position_missing_in_Q96EF0_after_alignment nuclear envelope protein tyrosine phosphatase activity ovary(2)|breast(2) 4 GGCGTCTGTGCCTTGACATCC 0.527 NA 3 10 0 0 0.004672 0 0 PCDH11X 27328 broad.mit.edu 37 X 91131959 91131959 + Silent SNP T T C TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chrX:91131959T>C uc004efk.1 + 2 1565 c.720T>C c.(718-720)ACT>ACC p.T240T PCDH11X_uc004efl.1_Silent_p.T240T|PCDH11X_uc004efo.1_Silent_p.T240T|PCDH11X_uc010nmv.1_Silent_p.T240T|PCDH11X_uc004efm.1_Silent_p.T240T|PCDH11X_uc004efn.1_Silent_p.T240T|PCDH11X_uc004efh.1_Silent_p.T240T|PCDH11X_uc004efj.1_Silent_p.T240T NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 240 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 TGAGTGTTACTGATACAAATG 0.428 NSCLC(38;925 1092 2571 38200 45895) NA 57 51 0 0 0.00361 0 0 TBL1Y 90665 broad.mit.edu 37 Y 6954409 6954409 + Missense_Mutation SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chrY:6954409C>T uc004frb.2 + 16 1878 c.1231C>T c.(1231-1233)CCC>TCC p.P411S TBL1Y_uc004frc.2_Missense_Mutation_p.P411S|TBL1Y_uc004frd.2_Missense_Mutation_p.P411S|TBL1Y_uc011nap.1_Missense_Mutation_p.P253S NM_033284 NP_150600 Q9BQ87 TBL1Y_HUMAN transducin beta-like 1Y 411 WD 6. transcription, DNA-dependent 0 CAAGTGGAGCCCCACCGGGCC 0.552 NA 10 4 0 0 0.008291 0 0 ASH1L 55870 broad.mit.edu 37 1 155451804 155451804 + Frame_Shift_Del DEL T T - TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:155451804delT uc009wqq.2 - 3 1337 c.857delA c.(856-858)GATfs p.D286fs ASH1L_uc001fkt.2_Frame_Shift_Del_p.D286fs|ASH1L_uc009wqr.1_Frame_Shift_Del_p.D286fs NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 286 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 11 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) TTTCCCAGGATCTTTAGTTAC 0.403 NA 100 97 --- --- --- --- NA NA NA NA NA PPTC7 160760 broad.mit.edu 37 12 111020740 111020742 + In_Frame_Del DEL CGC CGC - TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 CGC CGC - - CGC CGC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr12:111020740_111020742delCGC uc001trh.1 - 1 323_325 c.95_97delGCG c.(94-99)GGCGAC>GAC p.G32del NM_139283 NP_644812 Q8NI37 PPTC7_HUMAN T-cell activation protein phosphatase 2C 32 Gly-rich. metal ion binding|phosphoprotein phosphatase activity 0 AGTCCGTAGTcgccgccgccgcc 0.611 NA 6 3 --- --- --- --- NA NA NA NA NA RNF6 6049 broad.mit.edu 37 13 26788700 26788700 + Frame_Shift_Del DEL C C - TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr13:26788700delC uc001uqo.2 - 5 1610 c.1319delG c.(1318-1320)GGCfs p.G440fs RNF6_uc001uqn.1_Intron|RNF6_uc010aak.2_Frame_Shift_Del_p.G440fs|RNF6_uc001uqp.2_Frame_Shift_Del_p.G440fs|RNF6_uc001uqq.2_Frame_Shift_Del_p.G440fs|RNF6_uc010tdk.1_Frame_Shift_Del_p.G84fs NM_183044 NP_898865 Q9Y252 RNF6_HUMAN ring finger protein 6 440 negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process axon|cytoplasm|PML body androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|skin(1) 2 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245) TCGGCGAAAGCCCCCACTATT 0.433 NA 31 94 --- --- --- --- NA NA NA NA NA AKAP13 11214 broad.mit.edu 37 15 86236596 86236597 + Frame_Shift_Ins INS - - T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr15:86236596_86236597insT uc002blv.1 + 17 5548_5549 c.5378_5379insT c.(5377-5379)ACTfs p.T1793fs AKAP13_uc002blu.1_Frame_Shift_Ins_p.T1797fs|AKAP13_uc010bnf.1_Frame_Shift_Ins_p.T415fs|AKAP13_uc002blw.1_Frame_Shift_Ins_p.T260fs|AKAP13_uc002blx.1_Frame_Shift_Ins_p.T38fs NM_007200 NP_009131 Q12802 AKP13_HUMAN A-kinase anchor protein 13 isoform 2 1793 Phorbol-ester/DAG-type. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1) 9 AACGGGCACACTTTCAGTTCCA 0.302 Melanoma(94;603 1453 3280 32295 32951) NA 47 119 --- --- --- --- NA NA NA NA NA PSG5 5673 broad.mit.edu 37 19 43689239 43689239 + Frame_Shift_Del DEL G G - TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr19:43689239delG uc002ovu.2 - 2 256 c.125delC c.(124-126)CCAfs p.P42fs PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_5'UTR|PSG5_uc002ovx.2_Frame_Shift_Del_p.P42fs|PSG5_uc002ovv.2_Frame_Shift_Del_p.P42fs|PSG5_uc002ovw.2_Frame_Shift_Del_p.P42fs NM_002781 NP_002772 Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 42 Ig-like V-type. female pregnancy extracellular region skin(3) 3 Prostate(69;0.00899) AACTTTGGGTGGCAGGGCTTC 0.473 NA 72 191 --- --- --- --- NA NA NA NA NA TNS1 7145 broad.mit.edu 37 2 218682911 218682936 + Frame_Shift_Del DEL CCCCAGGGTGCCGGCCCAGGCTGGGA CCCCAGGGTGCCGGCCCAGGCTGGGA - rs140195511 byFrequency TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 CCCCAGGGTGCCGGCCCAGGCTGGGA CCCCAGGGTGCCGGCCCAGGCTGGGA - - CCCCAGGGTGCCGGCCCAGGCTGGGA CCCCAGGGTGCCGGCCCAGGCTGGGA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr2:218682911_218682936delCCCCAGGGTGCCGGCCCAGGCTGGGA uc002vgt.2 - 24 4205_4230 c.3807_3832delTCCCAGCCTGGGCCGGCACCCTGGGG c.(3805-3834)AGTCCCAGCCTGGGCCGGCACCCTGGGGCTfs p.S1269fs TNS1_uc002vgr.2_Frame_Shift_Del_p.S1256fs|TNS1_uc002vgs.2_Frame_Shift_Del_p.S1248fs|TNS1_uc010zjv.1_Frame_Shift_Del_p.S1248fs NM_022648 NP_072174 Q9HBL0 TENS1_HUMAN tensin 1269_1278 cytoplasm|cytoskeleton|focal adhesion actin binding ovary(3)|breast(1) 4 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) CCTTGGTGAGCCCCAGGGTGCCGGCCCAGGCTGGGACTCCCCGGGG 0.673 NA 10 31 --- --- --- --- NA NA NA NA NA DTWD2 285605 broad.mit.edu 37 5 118183864 118183864 + Frame_Shift_Del DEL G G - TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr5:118183864delG uc003ksa.2 - 5 681 c.647delC c.(646-648)CCGfs p.P216fs NM_173666 NP_775937 Q8NBA8 DTWD2_HUMAN DTW domain containing 2 216 0 all_epithelial(76;0.0982)|Prostate(80;0.121) OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939) TCTATTAGTCGGCTGCATCCG 0.313 NA 17 80 --- --- --- --- NA NA NA NA NA SEC63 11231 broad.mit.edu 37 6 108193003 108193003 + Frame_Shift_Del DEL C C - TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr6:108193003delC uc003psc.3 - 21 2457 c.2188delG c.(2188-2190)GATfs p.D730fs SEC63_uc003psb.3_Frame_Shift_Del_p.D557fs NM_007214 NP_009145 Q9UGP8 SEC63_HUMAN SEC63-like protein 730 Cytoplasmic (Potential). protein folding|protein targeting to membrane endoplasmic reticulum membrane|integral to membrane heat shock protein binding|receptor activity|unfolded protein binding ovary(1)|skin(1) 2 all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294) BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054) ATTGCTGTATCCCACTGTGGG 0.433 NA 55 106 --- --- --- --- NA NA NA NA NA GOLGA2 2801 broad.mit.edu 37 9 131019389 131019390 + Frame_Shift_Ins INS - - A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr9:131019389_131019390insA uc011maw.1 - 26 2978_2979 c.2965_2966insT c.(2965-2967)TACfs p.Y989fs GOLGA2_uc010mxw.2_Frame_Shift_Ins_p.Y312fs|GOLGA2_uc004buh.2_Frame_Shift_Ins_p.Y339fs NM_004486 NP_004477 Q08379 GOGA2_HUMAN Golgi autoantigen, golgin subfamily a, 2 989 Golgi cisterna membrane protein binding ovary(1) 1 GTCAGCCCGGTAAAAAAAAGGA 0.564 NA 7 172 --- --- --- --- NA NA NA NA NA RBM10 8241 broad.mit.edu 37 X 47028743 47028744 + Frame_Shift_Ins INS - - T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chrX:47028743_47028744insT uc004dhf.2 + 3 426_427 c.47_48insT c.(46-48)TATfs p.Y16fs RBM10_uc004dhe.1_Frame_Shift_Ins_p.M14fs|RBM10_uc004dhg.2_Frame_Shift_Ins_p.Y16fs|RBM10_uc004dhh.2_Frame_Shift_Ins_p.Y16fs|RBM10_uc010nhq.2_Frame_Shift_Ins_p.Y16fs|RBM10_uc004dhi.2_Frame_Shift_Ins_p.Y81fs NM_005676 NP_005667 P98175 RBM10_HUMAN RNA binding motif protein 10 isoform 1 16 mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1) 5 ACTGGCCGCTATGGAGCCACTG 0.579 Melanoma(171;120 2705 19495 39241) NA 16 21 --- --- --- --- NA NA NA NA NA