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 HNRNPR 10236 broad.mit.edu 37 1 23648100 23648100 + Silent SNP T T A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr1:23648100T>A uc001bgr.3 - 7 891 c.732A>T c.(730-732)GCA>GCT p.A244A HNRNPR_uc001bgp.3_Silent_p.A244A|HNRNPR_uc009vqk.2_Silent_p.A143A|HNRNPR_uc001bgs.3_Silent_p.A143A|HNRNPR_uc010odw.1_Silent_p.A206A|HNRNPR_uc010odx.1_Silent_p.A84A|HNRNPR_uc009vql.2_Silent_p.A105A NM_005826 NP_005817 O43390 HNRPR_HUMAN heterogeneous nuclear ribonucleoprotein R 244 RRM 1. catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding upper_aerodigestive_tract(1)|skin(1) 2 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19) GTCTGTTGTTTGCCACAGAAA 0.383 NA 46 195 0 0 0.00361 0 0 TCEA3 6920 broad.mit.edu 37 1 23743829 23743829 + Missense_Mutation SNP T T A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr1:23743829T>A uc001bgx.1 - 4 428 c.293A>T c.(292-294)AAG>ATG p.K98M TCEA3_uc009vqn.1_Missense_Mutation_p.K77M|TCEA3_uc010ody.1_Missense_Mutation_p.K61M NM_003196 NP_003187 O75764 TCEA3_HUMAN transcription elongation factor A (SII), 3 98 regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent nucleus DNA binding|translation elongation factor activity|zinc ion binding 0 Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198) tttttccttcttctttgcctt 0.368 NA 12 119 0 0 0.000978 0 0 CNR2 1269 broad.mit.edu 37 1 24201701 24201701 + Missense_Mutation SNP C C T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr1:24201701C>T uc001bif.2 - 2 534 c.407G>A c.(406-408)CGC>CAC p.R136H NM_001841 NP_001832 P34972 CNR2_HUMAN cannabinoid receptor 2 (macrophage) 136 Cytoplasmic (Potential). behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response dendrite|integral to plasma membrane|perikaryon cannabinoid receptor activity skin(2)|central_nervous_system(1) 3 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146) Nabilone(DB00486) AGGTGGATAGCGCAGGCAGAG 0.582 NA 24 122 0 0 0.00632 0 0 CCDC21 64793 broad.mit.edu 37 1 26566285 26566285 + Missense_Mutation SNP A A T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr1:26566285A>T uc001bls.1 + 2 142 c.11A>T c.(10-12)CAG>CTG p.Q4L CCDC21_uc001blr.2_Missense_Mutation_p.Q4L|CCDC21_uc010ofa.1_Missense_Mutation_p.Q4L NM_022778 NP_073615 Q6P2H3 CEP85_HUMAN coiled-coil domain containing 21 4 centrosome|nucleolus|spindle pole 0 all_cancers(24;7e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.6e-26)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;9.48e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00917)|READ - Rectum adenocarcinoma(331;0.0649) ATGGCCATGCAGGAGAAATAT 0.408 NA 17 81 0 0 0.006122 0 0 WDTC1 23038 broad.mit.edu 37 1 27627736 27627736 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr1:27627736G>T uc009vst.2 + 13 1787 c.1252G>T c.(1252-1254)GCC>TCC p.A418S WDTC1_uc001bno.2_Missense_Mutation_p.A417S|WDTC1_uc001bnp.1_RNA|WDTC1_uc001bnq.2_Missense_Mutation_p.A96S NM_015023 NP_055838 Q8N5D0 WDTC1_HUMAN WD and tetratricopeptide repeats 1 418 TPR 2. protein binding ovary(1)|central_nervous_system(1) 2 all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476) CCACTATGATGCCCTGAGGGA 0.597 NA OREG0013280 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 54 5.18039e-06 6.61496e-06 0.00308 1 0 RSPO1 284654 broad.mit.edu 37 1 38095323 38095323 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr1:38095323C>A uc001cbl.1 - 4 799 c.11G>T c.(10-12)GGG>GTG p.G4V RSPO1_uc001cbm.1_Missense_Mutation_p.G4V|RSPO1_uc009vvf.1_Intron|RSPO1_uc009vvg.1_Missense_Mutation_p.G4V NM_001038633 NP_001033722 Q2MKA7 RSPO1_HUMAN R-spondin1 precursor 4 positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization heparin binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CACACACAGCCCAAGCCGCAT 0.642 GBM(122;680 2230 27822 42821) NA 7 28 0.000673444 0.000757396 0.008291 1 0 LRRC41 10489 broad.mit.edu 37 1 46746874 46746874 + Missense_Mutation SNP G G T rs140475848 TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr1:46746874G>T uc001cpn.2 - 5 1723 c.1679C>A c.(1678-1680)CCA>CAA p.P560Q LRRC41_uc010omb.1_Missense_Mutation_p.P560Q NM_006369 NP_006360 Q15345 LRC41_HUMAN MUF1 protein 560 ovary(2)|breast(1)|pancreas(1) 4 Acute lymphoblastic leukemia(166;0.155) CCGCTGGCTTGGGTGGTCAAC 0.582 NA 6 73 5.4927e-09 7.99815e-09 0.004482 1 0 SLC44A5 204962 broad.mit.edu 37 1 75708683 75708683 + Missense_Mutation SNP T T A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr1:75708683T>A uc001dgu.2 - 8 503 c.359A>T c.(358-360)AAG>ATG p.K120M SLC44A5_uc001dgt.2_Missense_Mutation_p.K120M|SLC44A5_uc001dgs.2_Missense_Mutation_p.K78M|SLC44A5_uc001dgr.2_Missense_Mutation_p.K78M|SLC44A5_uc010oqz.1_Missense_Mutation_p.K159M|SLC44A5_uc010ora.1_Missense_Mutation_p.K114M|SLC44A5_uc010orb.1_Translation_Start_Site NM_152697 NP_689910 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 isoform A 120 Extracellular (Potential). integral to membrane|plasma membrane choline transmembrane transporter activity ovary(2)|skin(2) 4 TTCTGGGCACTTGGAGACACA 0.398 NA 24 86 0 0 0.002299 0 0 COL24A1 255631 broad.mit.edu 37 1 86362043 86362043 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr1:86362043G>T uc001dlj.2 - 29 2870 c.2828C>A c.(2827-2829)GCC>GAC p.A943D COL24A1_uc001dli.2_Missense_Mutation_p.A79D|COL24A1_uc010osd.1_Missense_Mutation_p.A243D|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor 943 Collagen-like 7. cell adhesion collagen extracellular matrix structural constituent ovary(3)|central_nervous_system(1)|skin(1) 5 all cancers(265;0.0627)|Epithelial(280;0.0689) GATTACCTTGGCACCTTGTAT 0.313 NA 5 137 0.000602214 0.000679128 0.000602 1 0 VAV3 10451 broad.mit.edu 37 1 108507486 108507486 + Silent SNP C C T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr1:108507486C>T uc001dvk.1 - 1 60 c.6G>A c.(4-6)GAG>GAA p.E2E VAV3_uc010ouw.1_Silent_p.E2E|VAV3_uc001dvl.1_5'Flank|VAV3_uc010oux.1_Silent_p.E2E NM_006113 NP_006104 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor isoform 2 CH. 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) GCTTCCACGGCTCCATGCCCG 0.647 NA 3 5 0 0 0.004672 0 0 WARS2 10352 broad.mit.edu 37 1 119576771 119576771 + Missense_Mutation SNP T T A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr1:119576771T>A uc001ehn.2 - 5 609 c.581A>T c.(580-582)CAA>CTA p.Q194L WARS2_uc010oxf.1_Missense_Mutation_p.Q100L|WARS2_uc001ehm.2_Missense_Mutation_p.Q194L|WARS2_uc010oxg.1_Missense_Mutation_p.Q137L|WARS2_uc010oxh.1_Silent_p.T165T|WARS2_uc010oxi.1_Silent_p.T71T NM_015836 NP_056651 Q9UGM6 SYWM_HUMAN mitochondrial tryptophanyl tRNA synthetase 2 194 tryptophanyl-tRNA aminoacylation mitochondrial matrix ATP binding|tryptophan-tRNA ligase activity 0 all_neural(166;0.187) all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564) Lung(183;0.0629) L-Tryptophan(DB00150) GTTGAAACCTTGTGCTAGATC 0.413 NA 16 121 0 0 0.00499 0 0 FLG2 388698 broad.mit.edu 37 1 152326733 152326733 + Missense_Mutation SNP T T C TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr1:152326733T>C uc001ezw.3 - 3 3602 c.3529A>G c.(3529-3531)ACA>GCA p.T1177A uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 1177 Ser-rich. calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCAAAACTTGTGGTTGGACCT 0.483 NA 21 180 0 0 0.010504 0 0 CD1C 911 broad.mit.edu 37 1 158261156 158261156 + Silent SNP G G A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr1:158261156G>A uc001fru.2 + 2 586 c.294G>A c.(292-294)GAG>GAA p.E98E CD1C_uc001frv.2_5'Flank NM_001765 NP_001756 P29017 CD1C_HUMAN CD1C antigen precursor 98 Extracellular (Potential). antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding ovary(2)|skin(1)|pancreas(1) 4 all_hematologic(112;0.0378) TAACTCGGGAGATTCAAGACC 0.368 NA 33 121 0 0 0.004289 0 0 CD1E 913 broad.mit.edu 37 1 158325701 158325701 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr1:158325701C>A uc001fse.2 + 4 949 c.710C>A c.(709-711)CCA>CAA p.P237Q CD1E_uc010pid.1_Missense_Mutation_p.P235Q|CD1E_uc010pie.1_Missense_Mutation_p.P138Q|CD1E_uc010pif.1_Missense_Mutation_p.P48Q|CD1E_uc001fsd.2_Missense_Mutation_p.P237Q|CD1E_uc001fsk.2_Missense_Mutation_p.P147Q|CD1E_uc001fsj.2_Missense_Mutation_p.P147Q|CD1E_uc001fsc.2_Missense_Mutation_p.P48Q|CD1E_uc010pig.1_RNA|CD1E_uc001fsa.2_Missense_Mutation_p.P48Q|CD1E_uc001fsf.2_Missense_Mutation_p.P237Q|CD1E_uc001fry.2_Missense_Mutation_p.P237Q|CD1E_uc001fsg.2_Missense_Mutation_p.P48Q|CD1E_uc001fsh.2_Missense_Mutation_p.P48Q|CD1E_uc001fsi.2_Missense_Mutation_p.P237Q|CD1E_uc009wsv.2_Missense_Mutation_p.P138Q|CD1E_uc001frz.2_Missense_Mutation_p.P147Q|CD1E_uc009wsw.2_5'UTR NM_030893 NP_112155 P15812 CD1E_HUMAN CD1E antigen isoform a precursor 237 Ig-like. 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) GGATTCTACCCAAAGCCCGTG 0.607 NA 27 90 1.55811e-20 2.88668e-20 0.008361 1 0 OR10R2 343406 broad.mit.edu 37 1 158450421 158450421 + Nonsense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr1:158450421G>T uc010pik.1 + 1 754 c.754G>T c.(754-756)GAG>TAG p.E252* uc001fso.1_RNA NM_001004472 NP_001004472 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, 252 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(2)|skin(1) 3 all_hematologic(112;0.0378) TCCCTCAGCTGAGGGCAGACG 0.453 NA 21 99 1.28384e-07 1.72425e-07 0.001882 1 0 RGS5 8490 broad.mit.edu 37 1 163138072 163138073 + Missense_Mutation DNP GG GG TT TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr1:163138072_163138073GG>TT uc001gcn.2 - 2 377_378 c.130_131CC>AA c.(130-132)CCA>AAA p.P44K RGS5_uc009wvb.2_Intron NM_003617 NP_003608 O15539 RGS5_HUMAN regulator of G-protein signalling 5 44 negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|plasma membrane GTPase activator activity|signal transducer activity 0 LUSC - Lung squamous cell carcinoma(543;0.187) TGGTTTCTCTGGCTTCTCATTG 0.455 NA 29 136 0 0 0.004672 0 0 ILDR2 387597 broad.mit.edu 37 1 166905836 166905836 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr1:166905836G>T uc001gdx.1 - 5 751 c.695C>A c.(694-696)CCT>CAT p.P232H NM_199351 NP_955383 Q71H61 ILDR2_HUMAN immunoglobulin-like domain containing receptor 232 Cytoplasmic (Potential). integral to membrane ovary(1) 1 ACAGGCTTGAGGGCAGCAGCA 0.602 NA 4 41 0.000442599 0.000501854 0.006214 1 0 GPA33 10223 broad.mit.edu 37 1 167025041 167025041 + Nonsense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr1:167025041G>T uc001gea.1 - 5 961 c.617C>A c.(616-618)TCG>TAG p.S206* NM_005814 NP_005805 Q99795 GPA33_HUMAN transmembrane glycoprotein A33 precursor 206 Ig-like C2-type.|Extracellular (Potential). integral to plasma membrane receptor activity 0 GTAGTAACCCGATGTGTCTGT 0.572 NA 34 107 3.11337e-16 5.49809e-16 0.002836 1 0 PAPPA2 60676 broad.mit.edu 37 1 176668684 176668684 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr1:176668684G>T uc001gkz.2 + 8 4359 c.3195G>T c.(3193-3195)TTG>TTT p.L1065F PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1065 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 CCAGTGGTTTGCCCGTGGTGG 0.567 NA 75 236 4.41824e-40 8.64891e-40 0.00361 1 0 CFHR2 3080 broad.mit.edu 37 1 196928066 196928066 + Nonsense_Mutation SNP G G A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr1:196928066G>A uc001gtq.1 + 5 746 c.669G>A c.(667-669)TGG>TGA p.W223* CFHR2_uc001gtr.1_Nonsense_Mutation_p.W99* NM_005666 NP_005657 P36980 FHR2_HUMAN H factor (complement)-like 3 precursor 223 Sushi 4. extracellular region skin(2)|ovary(1) 3 AATTAAAGTGGACAAACCAAC 0.279 NA 3 37 0 0 0.000602 0 0 USH2A 7399 broad.mit.edu 37 1 216019167 216019167 + Silent SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr1:216019167C>A uc001hku.1 - 45 9441 c.9054G>T c.(9052-9054)GGG>GGT p.G3018G NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 3018 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) TGGACTCACCCCCATCGCAAG 0.438 NA HNSCC(13;0.011) 7 46 5.18039e-06 6.61496e-06 0.00308 1 0 HHIPL2 79802 broad.mit.edu 37 1 222717100 222717100 + Silent SNP C C G TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr1:222717100C>G uc001hnh.1 - 2 811 c.753G>C c.(751-753)CTG>CTC p.L251L NM_024746 NP_079022 Q6UWX4 HIPL2_HUMAN HHIP-like 2 precursor 251 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding ovary(1) 1 GBM - Glioblastoma multiforme(131;0.0185) AGGGTTGCTCCAGGCGACTCC 0.592 NA 30 158 0 0 0.007291 0 0 ITPKB 3707 broad.mit.edu 37 1 226836376 226836376 + Missense_Mutation SNP C C T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr1:226836376C>T uc010pvo.1 - 3 2369 c.2029G>A c.(2029-2031)GCA>ACA p.A677T NM_002221 NP_002212 P27987 IP3KB_HUMAN 1D-myo-inositol-trisphosphate 3-kinase B 677 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity ovary(4)|central_nervous_system(1) 5 Prostate(94;0.0773) TGTCTACCTGCGTGTCCTGCC 0.547 Colon(84;110 1851 5306 33547) NA 10 173 0 0 0.008291 0 0 PRSS38 339501 broad.mit.edu 37 1 228033666 228033666 + Silent SNP G G C TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr1:228033666G>C uc001hrh.2 + 5 738 c.738G>C c.(736-738)GGG>GGC p.G246G NM_183062 NP_898885 A1L453 PRS38_HUMAN marapsin 2 precursor 246 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity ovary(1)|pancreas(1) 2 GCGACTCCGGGGGCCCACTTG 0.607 NA 13 62 0 0 0.003163 0 0 RYR2 6262 broad.mit.edu 37 1 237948095 237948095 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr1:237948095G>T uc001hyl.1 + 90 13203 c.13083G>T c.(13081-13083)GAG>GAT p.E4361D RYR2_uc010pya.1_Missense_Mutation_p.E776D NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4361 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) TGCCCTCCGAGGATCTGACCG 0.537 NA 18 96 4.96729e-08 6.84859e-08 0.008871 1 0 OR1C1 26188 broad.mit.edu 37 1 247921322 247921322 + Silent SNP G G A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr1:247921322G>A uc010pza.1 - 1 387 c.387C>T c.(385-387)CCC>CCT p.P129P NM_012353 NP_036485 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, 129 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) TGTAATGTAAGGGGTGGCAAA 0.502 NA 11 65 0 0 0.000978 0 0 OR2T8 343172 broad.mit.edu 37 1 248084558 248084558 + Missense_Mutation SNP C C G TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr1:248084558C>G uc010pzc.1 + 1 239 c.239C>G c.(238-240)GCG>GGG p.A80G NM_001005522 NP_001005522 A6NH00 OR2T8_HUMAN olfactory receptor, family 2, subfamily T, 80 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0211) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CCCAAAATGGCGGCTGACTAC 0.577 NA 4 171 0 0 0.00308 0 0 OR2M5 127059 broad.mit.edu 37 1 248309050 248309050 + Missense_Mutation SNP A A T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr1:248309050A>T uc010pze.1 + 1 601 c.601A>T c.(601-603)ATC>TTC p.I201F NM_001004690 NP_001004690 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, 201 Helical; Name=5; (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) GGTTCTTTTCATCTGCTGTAT 0.433 NA 12 402 0 0 0.001368 0 0 OR2G6 391211 broad.mit.edu 37 1 248685264 248685264 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr1:248685264G>T uc001ien.1 + 1 317 c.317G>T c.(316-318)GGG>GTG p.G106V NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, 106 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GTGGCCATGGGGTTGGGCTCG 0.542 NA 8 140 5.18039e-06 6.61496e-06 0.00308 1 0 SH3BP5L 80851 broad.mit.edu 37 1 249110823 249110823 + Silent SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr1:249110823C>A uc001iew.1 - 4 837 c.285G>T c.(283-285)TCG>TCT p.S95S SH3BP5L_uc010pzp.1_5'Flank|SH3BP5L_uc010pzq.1_Silent_p.S63S|SH3BP5L_uc001iev.1_5'UTR NM_030645 NP_085148 Q7L8J4 3BP5L_HUMAN SH3-binding domain protein 5-like 95 Potential. 0 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) GTTTCCTCGCCGACTCCTGTA 0.582 NA 11 161 1.58986e-06 2.08137e-06 0.008291 1 0 C10orf140 387640 broad.mit.edu 37 10 21804176 21804176 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr10:21804176C>A uc009xkd.2 - 4 4829 c.2576G>T c.(2575-2577)GGG>GTG p.G859V uc001iqp.1_Intron NM_207371 NP_997254 Q1XH10 DLN1_HUMAN hypothetical protein LOC387640 778 nucleus nucleotide binding ovary(1) 1 CCCATCTCTCCCAATAATGAG 0.458 NA 15 43 0.000422831 0.000484738 0.004007 1 0 FAM13C 220965 broad.mit.edu 37 10 61112108 61112108 + Silent SNP G G C TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr10:61112108G>C uc001jkn.2 - 4 380 c.246C>G c.(244-246)CCC>CCG p.P82P FAM13C_uc001jko.2_Silent_p.P82P|FAM13C_uc010qid.1_5'UTR|FAM13C_uc010qie.1_5'UTR|FAM13C_uc010qif.1_Silent_p.P104P|FAM13C_uc001jkp.2_5'UTR NM_198215 NP_937858 Q8NE31 FA13C_HUMAN hypothetical protein LOC220965 isoform 1 82 ovary(2) 2 TGCCCATGCTGGGTCGCAATA 0.612 NA 10 78 0 0 0.008291 0 0 TET1 80312 broad.mit.edu 37 10 70404986 70404986 + Missense_Mutation SNP T T G TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr10:70404986T>G uc001jok.3 + 4 3005 c.2500T>G c.(2500-2502)TCC>GCC p.S834A NM_030625 NP_085128 Q8NFU7 TET1_HUMAN CXXC finger 6 834 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding ovary(5)|lung(2)|prostate(1)|breast(1) 9 TAACTGCAGTTCCATTCCACA 0.393 NA 20 299 0 0 0.001882 0 0 TSPAN15 23555 broad.mit.edu 37 10 71265915 71265915 + Silent SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr10:71265915C>A uc001jpo.1 + 7 779 c.654C>A c.(652-654)GGC>GGA p.G218G NM_012339 NP_036471 O95858 TSN15_HUMAN transmembrane 4 superfamily member 15 218 Extracellular (Potential). integral to plasma membrane|membrane fraction 0 ACGTGCGGGGCTGCACCAACG 0.597 NA 12 126 0.000151284 0.00017938 0.001855 1 0 FUT11 170384 broad.mit.edu 37 10 75532609 75532609 + Missense_Mutation SNP G G A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr10:75532609G>A uc001jva.2 + 1 561 c.518G>A c.(517-519)CGC>CAC p.R173H FUT11_uc001juy.1_Missense_Mutation_p.R173H|FUT11_uc001juz.1_Missense_Mutation_p.R173H NM_173540 NP_775811 Q495W5 FUT11_HUMAN fucosyltransferase 11 (alpha (1,3) 173 Lumenal (Potential). protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity 0 Prostate(51;0.0112) ACCTTCAGTCGCCACTCGGAT 0.687 NA 15 35 0 0 0.007413 0 0 MYST4 23522 broad.mit.edu 37 10 76781967 76781967 + Missense_Mutation SNP A A T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr10:76781967A>T uc001jwn.1 + 16 3843 c.3350A>T c.(3349-3351)CAG>CTG p.Q1117L MYST4_uc001jwm.1_Missense_Mutation_p.Q825L|MYST4_uc001jwo.1_Missense_Mutation_p.Q825L|MYST4_uc001jwp.1_Missense_Mutation_p.Q934L NM_012330 NP_036462 Q8WYB5 MYST4_HUMAN MYST histone acetyltransferase (monocytic 1117 histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1) 16 all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964) ACGAAACCACAGTCAGTTGCC 0.264 NA T CREBBP AML OREG0020273 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 35 188 0 0 0.00874 0 0 CDHR1 92211 broad.mit.edu 37 10 85973997 85973997 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr10:85973997C>A uc001kcv.2 + 17 2200 c.2200C>A c.(2200-2202)CTG>ATG p.L734M CDHR1_uc001kcw.2_Intron|CDHR1_uc009xst.2_Missense_Mutation_p.L438M|CDHR1_uc001kcx.2_Missense_Mutation_p.L48M NM_033100 NP_149091 Q96JP9 CDHR1_HUMAN protocadherin 21 precursor 734 Cytoplasmic (Potential). homophilic cell adhesion calcium ion binding|receptor activity ovary(1) 1 TAACAAGGTCCTGCCAATGCG 0.642 NA 12 63 5.03518e-11 7.97558e-11 0.007413 1 0 GRID1 2894 broad.mit.edu 37 10 87373323 87373323 + Silent SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr10:87373323G>T uc001kdl.1 - 15 2543 c.2442C>A c.(2440-2442)ACC>ACA p.T814T GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Silent_p.T385T NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 814 Extracellular (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) TGGCATGGCTGGTGAGGTCAC 0.632 NA Multiple Myeloma(13;0.14) 16 58 6.33239e-15 1.09498e-14 0.010504 1 0 BTAF1 9044 broad.mit.edu 37 10 93749274 93749274 + Missense_Mutation SNP C C G TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr10:93749274C>G uc001khr.2 + 20 2889 c.2791C>G c.(2791-2793)CCA>GCA p.P931A BTAF1_uc001khs.1_Missense_Mutation_p.P601A|BTAF1_uc001kht.1_Missense_Mutation_p.P369A NM_003972 NP_003963 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription 931 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) TTGTGTGGACCCATATCTAAC 0.403 NA 9 98 0 0 0.006214 0 0 CYP2C19 1557 broad.mit.edu 37 10 96534881 96534881 + Nonsense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr10:96534881G>T uc010qnz.1 + 2 235 c.235G>T c.(235-237)GGA>TGA p.G79* CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.1_Nonsense_Mutation_p.G57* NM_000769 NP_000760 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, 79 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) GGTGCTGCATGGATATGAAGT 0.458 NA 29 123 3.80469e-20 7.01755e-20 0.009535 1 0 OR51F2 119694 broad.mit.edu 37 11 4843600 4843600 + Missense_Mutation SNP A A T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr11:4843600A>T uc010qyn.1 + 1 985 c.985A>T c.(985-987)AAT>TAT p.N329Y NM_001004753 NP_001004753 Q8NH61 O51F2_HUMAN olfactory receptor, family 51, subfamily F, 329 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) CTCCAAATCTAATCATCAGCT 0.383 NA 13 56 0 0 0.001368 0 0 OR51L1 119682 broad.mit.edu 37 11 5020470 5020470 + Silent SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr11:5020470G>T uc010qyu.1 + 1 258 c.258G>T c.(256-258)GTG>GTT p.V86V NM_001004755 NP_001004755 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, 86 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) TGCTTGCTGTGTTATGGTTGG 0.483 NA 8 175 0.000442599 0.000501854 0.006214 1 0 OR51V1 283111 broad.mit.edu 37 11 5221508 5221508 + Silent SNP A A G TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr11:5221508A>G uc010qyz.1 - 1 423 c.423T>C c.(421-423)TAT>TAC p.Y141Y NM_001004760 NP_001004760 Q9H2C8 O51V1_HUMAN olfactory receptor, family 51, subfamily V, 141 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGATGGAGGAATAACGTAGTG 0.418 NA 7 76 0 0 0.004482 0 0 TUB 7275 broad.mit.edu 37 11 8118969 8118969 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr11:8118969G>T uc001mga.2 + 7 1031 c.882G>T c.(880-882)AAG>AAT p.K294N TUB_uc010rbk.1_Missense_Mutation_p.K300N|TUB_uc001mfy.2_Missense_Mutation_p.K349N NM_177972 NP_813977 P50607 TUB_HUMAN tubby isoform b 294 phagocytosis|positive regulation of phagocytosis|response to stimulus cytoplasm|extracellular region|nucleus|plasma membrane ovary(1) 1 all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17) Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184) AGGATGGGAAGAAGGTAAGGT 0.512 NA 13 106 4.93089e-13 8.21815e-13 0.00245 1 0 ABCC8 6833 broad.mit.edu 37 11 17419905 17419905 + Missense_Mutation SNP C C G TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr11:17419905C>G uc001mnc.2 - 30 3860 c.3734G>C c.(3733-3735)AGA>ACA p.R1245T NM_000352 NP_000343 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C, member 8 1245 ABC transmembrane type-1 2.|Cytoplasmic (By similarity). carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) TTCCAGCCATCTGTTGGCAGC 0.552 NA 7 56 0 0 0.006214 0 0 OR4C15 81309 broad.mit.edu 37 11 55322475 55322475 + Missense_Mutation SNP G G C TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr11:55322475G>C uc010rig.1 + 1 693 c.693G>C c.(691-693)ATG>ATC p.M231I NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, 177 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 ATCACTTTATGTGTGACTTGT 0.463 NA HNSCC(20;0.049) 14 61 0 0 0.00245 0 0 OR8I2 120586 broad.mit.edu 37 11 55860901 55860901 + Silent SNP T T C TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr11:55860901T>C uc010rix.1 + 1 118 c.118T>C c.(118-120)TTG>CTG p.L40L NM_001003750 NP_001003750 Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, 40 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Esophageal squamous(21;0.00693) ATTCACTGTTTTGGGAAACCT 0.378 NA 34 201 0 0 0.004289 0 0 CTNND1 1500 broad.mit.edu 37 11 57563083 57563083 + Missense_Mutation SNP G G C TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr11:57563083G>C uc001nmc.3 + 5 873 c.302G>C c.(301-303)AGG>ACG p.R101T CTNND1_uc001nlf.1_Missense_Mutation_p.R101T|CTNND1_uc001nlh.1_Missense_Mutation_p.R101T|CTNND1_uc001nlu.3_5'UTR|CTNND1_uc001nlt.3_5'UTR|CTNND1_uc001nls.3_5'UTR|CTNND1_uc001nlw.3_5'UTR|CTNND1_uc001nmf.3_Missense_Mutation_p.R101T|CTNND1_uc001nmd.3_Missense_Mutation_p.R47T|CTNND1_uc001nlk.3_Missense_Mutation_p.R47T|CTNND1_uc001nme.3_Missense_Mutation_p.R101T|CTNND1_uc001nll.3_Missense_Mutation_p.R47T|CTNND1_uc001nmg.3_Missense_Mutation_p.R47T|CTNND1_uc001nlj.3_Missense_Mutation_p.R47T|CTNND1_uc001nlr.3_Missense_Mutation_p.R47T|CTNND1_uc001nlp.3_Missense_Mutation_p.R47T|CTNND1_uc001nlx.3_Intron|CTNND1_uc001nlz.3_Intron|CTNND1_uc009ymn.2_Intron|CTNND1_uc001nlm.3_Missense_Mutation_p.R101T|CTNND1_uc001nly.3_Intron|CTNND1_uc001nmb.3_Intron|CTNND1_uc001nma.3_Intron|CTNND1_uc001nmi.3_5'UTR|CTNND1_uc001nmh.3_Missense_Mutation_p.R101T|CTNND1_uc001nlq.3_5'UTR|CTNND1_uc001nln.3_Missense_Mutation_p.R101T|CTNND1_uc001nli.3_Missense_Mutation_p.R101T|CTNND1_uc001nlo.3_5'UTR|CTNND1_uc001nlv.3_5'UTR NM_001085458 NP_001078927 O60716 CTND1_HUMAN catenin, delta 1 isoform 1ABC 101 adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytosol|midbody|nucleus cadherin binding|protein binding|receptor binding breast(4)|ovary(1)|kidney(1) 6 all_epithelial(135;0.155) ACCATCCCCAGGATGCAGGAG 0.473 NA 3 40 0 0 0.004672 0 0 OR5AN1 390195 broad.mit.edu 37 11 59132051 59132051 + Silent SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr11:59132051G>T uc010rks.1 + 1 120 c.120G>T c.(118-120)CTG>CTT p.L40L NM_001004729 NP_001004729 Q8NGI8 O5AN1_HUMAN olfactory receptor, family 5, subfamily AN, 40 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TTACATCTCTGGCCTGGAACC 0.418 NA 19 270 5.35267e-07 7.09699e-07 0.007413 1 0 OR4D10 390197 broad.mit.edu 37 11 59245669 59245669 + Missense_Mutation SNP A A G TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr11:59245669A>G uc001nnz.1 + 1 767 c.767A>G c.(766-768)TAT>TGT p.Y256C NM_001004705 NP_001004705 Q8NGI6 OR4DA_HUMAN olfactory receptor, family 4, subfamily D, 256 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 CCCTGCATCTATGTCTATGCC 0.562 NA 26 225 0 0 0.007291 0 0 AHNAK 79026 broad.mit.edu 37 11 62290909 62290909 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr11:62290909C>A uc001ntl.2 - 5 11280 c.10980G>T c.(10978-10980)AAG>AAT p.K3660N AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 3660 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) TCTCAGGCATCTTGAACTTGG 0.468 NA 41 418 2.54651e-27 4.91535e-27 0.006999 1 0 MYEOV 26579 broad.mit.edu 37 11 69062910 69062910 + Missense_Mutation SNP C C T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr11:69062910C>T uc001oov.2 + 2 539 c.89C>T c.(88-90)TCC>TTC p.S30F MYEOV_uc001oox.2_Intron|MYEOV_uc009ysl.2_Missense_Mutation_p.S30F|MYEOV_uc001oow.2_5'UTR NM_138768 NP_620123 Q96EZ4 MYEOV_HUMAN myeloma overexpressed 30 0 all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128) LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713) Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153) cagtctccctcctggtgtcAT 0.264 NA 20 84 0 0 0.010504 0 0 FAT3 120114 broad.mit.edu 37 11 92525961 92525961 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr11:92525961G>T uc001pdj.3 + 8 4657 c.4640G>T c.(4639-4641)AGA>ATA p.R1547I NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 1547 Cadherin 14.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CCTTATCGAAGAAACTTGGCC 0.368 NA TCGA Ovarian(4;0.039) 9 149 1.58986e-06 2.08137e-06 0.008291 1 0 FAT3 120114 broad.mit.edu 37 11 92535011 92535011 + Silent SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr11:92535011C>A uc001pdj.3 + 9 8849 c.8832C>A c.(8830-8832)GCC>GCA p.A2944A NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 2944 Cadherin 27.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AGGTGGTAGCCGTCCTCAGCA 0.517 NA TCGA Ovarian(4;0.039) 12 112 7.03913e-09 1.01432e-08 0.001368 1 0 NPAT 4863 broad.mit.edu 37 11 108057265 108057265 + Missense_Mutation SNP C C T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr11:108057265C>T uc001pjz.3 - 8 772 c.670G>A c.(670-672)GGC>AGC p.G224S NPAT_uc001pka.2_Missense_Mutation_p.G19S NM_002519 NP_002510 Q14207 NPAT_HUMAN nuclear protein, ataxia-telangiectasia locus 224 Interaction with MIZF. positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity ovary(2) 2 all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116) GAATGAGGGCCAGACAAAGTG 0.323 NA 8 92 0 0 0.008291 0 0 DSCAML1 57453 broad.mit.edu 37 11 117395626 117395626 + Silent SNP T T C TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr11:117395626T>C uc001prh.1 - 5 1013 c.1011A>G c.(1009-1011)ACA>ACG p.T337T DSCAML1_uc001pri.1_Silent_p.T141T NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 277 Ig-like C2-type 3.|Extracellular (Potential). axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) TGGTCAGCCCTGTGATGCGCT 0.657 NA 3 22 0 0 0.000602 0 0 OR8D1 283159 broad.mit.edu 37 11 124180365 124180365 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr11:124180365G>T uc010sag.1 - 1 298 c.298C>A c.(298-300)CAG>AAG p.Q100K NM_001002917 NP_001002917 Q8WZ84 OR8D1_HUMAN olfactory receptor, family 8, subfamily D, 100 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) AAAAAGAGCTGGACCATGCAC 0.453 NA 3 27 2.56e-06 3.33041e-06 0.009096 1 0 PRDM10 56980 broad.mit.edu 37 11 129801996 129801996 + Splice_Site SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr11:129801996C>A uc001qfm.2 - 10 1519 c.1287_splice c.e10+1 p.Q429_splice PRDM10_uc001qfj.2_Splice_Site_p.Q343_splice|PRDM10_uc001qfk.2_Splice_Site_p.Q343_splice|PRDM10_uc001qfl.2_Splice_Site_p.Q343_splice|PRDM10_uc010sbx.1_Splice_Site_p.Q343_splice|PRDM10_uc001qfn.2_Splice_Site_p.Q429_splice|PRDM10_uc009zct.1_Splice_Site_p.Q461_splice NM_020228 NP_064613 Q9NQV6 PRD10_HUMAN PR domain containing 10 isoform 1 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) TCCCCCCGTACCTGTGTCCCA 0.562 NA 17 100 1.33834e-09 1.99788e-09 0.007413 1 0 ERC1 23085 broad.mit.edu 37 12 1299084 1299084 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr12:1299084C>A uc001qjb.2 + 12 2458 c.2217C>A c.(2215-2217)CAC>CAA p.H739Q ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Missense_Mutation_p.H711Q|ERC1_uc001qja.2_RNA|ERC1_uc001qjd.2_RNA|ERC1_uc001qjf.2_Missense_Mutation_p.H739Q|ERC1_uc010sdv.1_Missense_Mutation_p.H487Q|ERC1_uc009zdp.2_Missense_Mutation_p.H379Q|ERC1_uc001qje.2_RNA NM_178040 NP_829884 Q8IUD2 RB6I2_HUMAN RAB6-interacting protein 2 isoform epsilon 739 Potential. I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport Golgi membrane|IkappaB kinase complex|presynaptic membrane leucine zipper domain binding ovary(2)|lung(2)|breast(1) 5 all_epithelial(11;0.0698)|Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567) GAATACAGCACTTGGAGAGAG 0.458 NA 12 62 2.61681e-11 4.17684e-11 0.00245 1 0 ANO2 57101 broad.mit.edu 37 12 5687595 5687595 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr12:5687595G>T uc001qnm.2 - 22 2395 c.2323C>A c.(2323-2325)CTC>ATC p.L775I NM_020373 NP_065106 Q9NQ90 ANO2_HUMAN anoctamin 2 780 Cytoplasmic (Potential). chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity ovary(4)|large_intestine(2)|central_nervous_system(1) 7 TTTGCATCGAGCCGCACTTCA 0.547 NA 5 52 1.26484e-09 1.89498e-09 0.00308 1 0 TMTC1 83857 broad.mit.edu 37 12 29911688 29911688 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr12:29911688G>T uc001rjb.2 - 3 653 c.179C>A c.(178-180)GCG>GAG p.A60E TMTC1_uc001rjc.1_Missense_Mutation_p.A60E NM_175861 NP_787057 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat 168 Helical; (Potential). integral to membrane binding 0 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) TAACACGTCCGCTCTGCCAAC 0.413 NA 4 17 0.000602214 0.000679128 0.000602 1 0 MLL2 8085 broad.mit.edu 37 12 49435239 49435239 + Missense_Mutation SNP C C T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr12:49435239C>T uc001rta.3 - 31 6314 c.6314G>A c.(6313-6315)CGC>CAC p.R2105H NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 2105 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 CGGGGGAATGCGGAGATGTAG 0.652 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 5 61 0 0 0.000602 0 0 KRT7 3855 broad.mit.edu 37 12 52639362 52639362 + Missense_Mutation SNP C C T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr12:52639362C>T uc001saa.1 + 7 1278 c.1151C>T c.(1150-1152)GCC>GTC p.A384V KRT7_uc009zmf.1_Intron NM_005556 NP_005547 P08729 K2C7_HUMAN keratin 7 384 Rod.|Coil 2. cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation Golgi apparatus|keratin filament|nucleus protein binding|structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(357;0.105) GTGAAGCTGGCCCTGGACATC 0.637 NA 4 90 0 0 0.001168 0 0 PPP1R1A 5502 broad.mit.edu 37 12 54975870 54975870 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr12:54975870C>A uc001sgg.2 - 5 464 c.293G>T c.(292-294)GGA>GTA p.G98V NM_006741 NP_006732 Q13522 PPR1A_HUMAN protein phosphatase 1, regulatory (inhibitor) 98 glycogen metabolic process|signal transduction protein binding|protein serine/threonine phosphatase inhibitor activity 0 AGGTTCCTCTCCTTGCTGCTG 0.602 NA 20 57 2.94398e-08 4.15562e-08 0.007413 1 0 SLC39A5 283375 broad.mit.edu 37 12 56629470 56629470 + Nonsense_Mutation SNP C C T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr12:56629470C>T uc010sqj.1 + 8 1188 c.931C>T c.(931-933)CGA>TGA p.R311* SLC39A5_uc010sqi.1_Nonsense_Mutation_p.R202*|SLC39A5_uc010sqk.1_Nonsense_Mutation_p.R311* NM_173596 NP_775867 Q6ZMH5 S39A5_HUMAN solute carrier family 39 (metal ion 311 Cytoplasmic (Potential). zinc ion transport basolateral plasma membrane|integral to membrane metal ion transmembrane transporter activity ovary(1)|skin(1) 2 TTTGCGGCACCGAGGGCTCAG 0.532 NA 28 372 0 0 0.00632 0 0 Unknown 0 broad.mit.edu 37 12 80771682 80771682 + Missense_Mutation SNP A A G TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr12:80771682A>G uc009zsg.1 + 13 1130 c.529A>G c.(529-531)AAT>GAT p.N177D uc001szd.2_Missense_Mutation_p.N316D RecName: Full=Uncharacterized protein C12orf64; NA ATATAACATCAATATTGAAAG 0.358 NA 4 11 0 0 0.001168 0 0 TMTC2 160335 broad.mit.edu 37 12 83358817 83358817 + Missense_Mutation SNP A A T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr12:83358817A>T uc001szt.2 + 5 2045 c.1613A>T c.(1612-1614)CAG>CTG p.Q538L TMTC2_uc001szr.1_Missense_Mutation_p.Q538L|TMTC2_uc001szs.1_Missense_Mutation_p.Q538L|TMTC2_uc010suk.1_Missense_Mutation_p.Q293L NM_152588 NP_689801 Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat 538 TPR 3. endoplasmic reticulum|integral to membrane binding ovary(2) 2 CTACTTCTCCAGGAGAACAGC 0.333 NA 26 57 0 0 0.00632 0 0 ALX1 8092 broad.mit.edu 37 12 85695135 85695135 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr12:85695135G>T uc001tae.3 + 4 867 c.863G>T c.(862-864)GGG>GTG p.G288V NM_006982 NP_008913 Q15699 ALX1_HUMAN cartilage paired-class homeoprotein 1 288 brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1)|central_nervous_system(1) 2 GBM - Glioblastoma multiforme(134;0.134) CTTCTTACTGGGGCAACCAAT 0.483 NA 11 106 2.80697e-09 4.17525e-09 0.000978 1 0 TCHP 84260 broad.mit.edu 37 12 110348913 110348913 + Nonsense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr12:110348913G>T uc001tpn.2 + 9 1078 c.925G>T c.(925-927)GAG>TAG p.E309* TCHP_uc001tpo.1_RNA|TCHP_uc001tpp.2_Nonsense_Mutation_p.E309* NM_001143852 NP_001137324 Q9BT92 TCHP_HUMAN trichoplein 309 Trichohyalin/plectin homology domain.|Glu-rich.|Interaction with keratin proteins.|Potential. apoptosis|negative regulation of cell growth apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane protein binding skin(1) 1 GAAGGAGGACGAGAGCCAGCG 0.667 NA 3 13 0.004672 0.0050756 0.004672 1 0 P2RX7 5027 broad.mit.edu 37 12 121600296 121600296 + Missense_Mutation SNP C C G TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr12:121600296C>G uc001tzm.2 + 5 602 c.506C>G c.(505-507)CCC>CGC p.P169R P2RX7_uc001tzn.2_Missense_Mutation_p.P79R|P2RX7_uc001tzo.2_RNA|P2RX7_uc001tzp.2_5'UTR|P2RX7_uc001tzq.2_Intron NM_002562 NP_002553 Q99572 P2RX7_HUMAN purinergic receptor P2X7 169 integral to membrane ATP binding|ion channel activity|receptor activity large_intestine(2)|lung(1)|breast(1)|skin(1) 5 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GCCTGGTGCCCCATCGAGGCA 0.592 NA 4 60 0 0 0.000602 0 0 TMEM132B 114795 broad.mit.edu 37 12 126137173 126137173 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr12:126137173C>A uc001uhe.1 + 8 2094 c.2086C>A c.(2086-2088)CAG>AAG p.Q696K TMEM132B_uc001uhf.1_Missense_Mutation_p.Q208K NM_052907 NP_443139 Q14DG7 T132B_HUMAN transmembrane protein 132B 696 Extracellular (Potential). integral to membrane skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1) 19 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) TCAGTCCCCACAGCAGGTGAG 0.607 NA 6 84 0.00198382 0.00218378 0.001984 1 0 RIMBP2 23504 broad.mit.edu 37 12 130912844 130912844 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr12:130912844G>T uc001uil.2 - 12 2405 c.2241C>A c.(2239-2241)AGC>AGA p.S747R NM_015347 NP_056162 O15034 RIMB2_HUMAN RIM-binding protein 2 747 cell junction|synapse upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1) 11 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) ACCCCCGGCTGCTCTCTGTGT 0.617 NA 14 96 3.41278e-10 5.22622e-10 0.00499 1 0 FLT3 2322 broad.mit.edu 37 13 28589815 28589815 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr13:28589815C>A uc001urw.2 - 21 2647 c.2565G>T c.(2563-2565)ATG>ATT p.M855I FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.M814I NM_004119 NP_004110 P36888 FLT3_HUMAN fms-related tyrosine kinase 3 precursor 855 Protein kinase.|Cytoplasmic (Potential). positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1) 8549 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) TTTCGGGGGCCATCCATTTTA 0.428 NA Mis|O AML|ALL 16 85 4.35082e-09 6.42558e-09 0.010504 1 0 POTEG 404785 broad.mit.edu 37 14 19553724 19553724 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr14:19553724G>T uc001vuz.1 + 1 360 c.308G>T c.(307-309)TGC>TTC p.C103F POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 103 ovary(1) 1 AAGTGGTGCTGCCACTGCTTC 0.617 NA 37 435 2.29192e-23 4.34313e-23 0.00361 1 0 IL25 64806 broad.mit.edu 37 14 23842381 23842381 + Silent SNP A A T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr14:23842381A>T uc001wjr.2 + 1 364 c.54A>T c.(52-54)CTA>CTT p.L18L IL25_uc001wjq.2_Intron NM_022789 NP_073626 Q9H293 IL25_HUMAN interleukin 25 isoform 1 precursor 18 inflammatory response extracellular space|membrane cytokine activity|interleukin-17E receptor binding ovary(1) 1 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396) GCCTTTTCCTACAGGTGGTTG 0.587 NA 34 107 0 0 0.003271 0 0 ARHGAP5 394 broad.mit.edu 37 14 32563233 32563233 + Missense_Mutation SNP A A G TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr14:32563233A>G uc001wrl.2 + 2 3597 c.3358A>G c.(3358-3360)AAA>GAA p.K1120E ARHGAP5_uc001wrm.2_Missense_Mutation_p.K1120E|ARHGAP5_uc001wrn.2_Missense_Mutation_p.K1120E|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron NM_001173 NP_001025226 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 isoform b 1120 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding ovary(4)|central_nervous_system(1) 5 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) AAATCGTATTAAAATTCGAAA 0.363 NSCLC(9;77 350 3443 29227 41353) NA 3 84 0 0 0.004672 0 0 SYT16 83851 broad.mit.edu 37 14 62462844 62462844 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr14:62462844C>A uc001xfu.1 + 1 304 c.107C>A c.(106-108)TCT>TAT p.S36Y SYT16_uc010tsd.1_Missense_Mutation_p.S36Y NM_031914 NP_114120 Q17RD7 SYT16_HUMAN synaptotagmin XIV-like 36 central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) GATATGTTATCTGCTTCGCTG 0.413 NA 19 62 3.51602e-12 5.72214e-12 0.008871 1 0 MOAP1 64112 broad.mit.edu 37 14 93649642 93649642 + Missense_Mutation SNP C C G TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr14:93649642C>G uc001ybj.2 - 3 1316 c.946G>C c.(946-948)GAT>CAT p.D316H C14orf109_uc001ybk.3_5'Flank|C14orf109_uc010auo.2_5'Flank NM_022151 NP_071434 Q96BY2 MOAP1_HUMAN modulator of apoptosis 1 316 activation of caspase activity|apoptotic nuclear change cytoplasm protein homodimerization activity skin(2)|ovary(1) 3 all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13) Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204) gctgggccatcctctggcaga 0.075 NA 56 133 0 0 0.00361 0 0 ADSSL1 122622 broad.mit.edu 37 14 105201358 105201358 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr14:105201358G>T uc001ypd.2 + 2 268 c.194G>T c.(193-195)GGG>GTG p.G65V INF2_uc010tyi.1_Intron|ADSSL1_uc001ype.2_Missense_Mutation_p.G108V|ADSSL1_uc001ypf.2_RNA NM_152328 NP_689541 Q8N142 PURA1_HUMAN adenylosuccinate synthase like 1 isoform 2 65 AMP biosynthetic process|immune system process|purine base metabolic process cytosol adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding ovary(1)|central_nervous_system(1) 2 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.18) L-Aspartic Acid(DB00128) CTGTTCCAGGGGGGCAACAAC 0.617 NA 6 30 1.06961e-07 1.45062e-07 0.00308 1 0 TRPM1 4308 broad.mit.edu 37 15 31360169 31360169 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr15:31360169G>T uc001zfm.2 - 4 468 c.340C>A c.(340-342)CCC>ACC p.P114T TRPM1_uc010azy.2_Missense_Mutation_p.P27T|TRPM1_uc001zfl.2_RNA|uc010ubm.1_5'Flank|MIR211_hsa-mir-211|MI0000287_5'Flank|uc010ubn.1_5'Flank NM_002420 NP_002411 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, 114 Extracellular (Potential). cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) TTCAGCTTGGGCTGCATCTCA 0.547 NA 22 214 5.26018e-13 8.7319e-13 0.001882 1 0 C15orf55 256646 broad.mit.edu 37 15 34640216 34640216 + Silent SNP C C T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr15:34640216C>T uc001zif.2 + 2 218 c.63C>T c.(61-63)GCC>GCT p.A21A C15orf55_uc010ucc.1_Silent_p.A49A|C15orf55_uc010ucd.1_Silent_p.A39A NM_175741 NP_786883 Q86Y26 NUT_HUMAN nuclear protein in testis 21 Pro-rich. cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) midline_organs(25)|ovary(2)|lung(2)|skin(1) 30 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) CTAGTGCCGCCCCGTCTCCAT 0.532 NA T BRD3|BRD4 lethal midline carcinoma 11 90 0 0 0.001368 0 0 CASC5 57082 broad.mit.edu 37 15 40912855 40912855 + Silent SNP T T C TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr15:40912855T>C uc010bbs.1 + 11 632 c.471T>C c.(469-471)CAT>CAC p.H157H CASC5_uc010ucq.1_5'UTR|CASC5_uc001zme.2_Silent_p.H131H|CASC5_uc010bbt.1_Silent_p.H131H NM_170589 NP_733468 Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 isoform 1 157 Interaction with BUB1 and BUB1B. acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding breast(3)|central_nervous_system(1)|skin(1) 5 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) TTATAGAACATACCCGTGAAA 0.313 NA 7 56 0 0 0.001984 0 0 MAP1A 4130 broad.mit.edu 37 15 43819588 43819588 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr15:43819588C>A uc001zrt.2 + 4 6384 c.5917C>A c.(5917-5919)CAG>AAG p.Q1973K NM_002373 NP_002364 P78559 MAP1A_HUMAN microtubule-associated protein 1A 1973 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(3)|breast(3)|pancreas(2)|skin(1) 9 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) CATCTATGAGCAGATGATGCT 0.582 NA 5 111 0.000157383 0.000184503 0.00308 1 0 CPLX3 594855 broad.mit.edu 37 15 75119191 75119191 + Silent SNP G G A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr15:75119191G>A uc002ayu.1 + 1 241 c.147G>A c.(145-147)AAG>AAA p.K49K LMAN1L_uc010bke.1_3'UTR NM_001030005 NP_001025176 Q8WVH0 CPLX3_HUMAN complexin 3 precursor 49 Potential. cell junction|synapse syntaxin binding 0 AGTATCAGAAGCAACTCGTGG 0.637 NA 6 44 0 0 0.001984 0 0 ULK3 25989 broad.mit.edu 37 15 75134424 75134424 + Missense_Mutation SNP T T A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr15:75134424T>A uc010bkf.1 - 3 462 c.356A>T c.(355-357)CAG>CTG p.Q119L ULK3_uc010ulp.1_Missense_Mutation_p.Q29L|ULK3_uc010ulq.1_Missense_Mutation_p.Q130L|ULK3_uc010ulr.1_Missense_Mutation_p.Q2L|ULK3_uc002ayv.2_Missense_Mutation_p.Q119L|ULK3_uc010uls.1_Missense_Mutation_p.Q2L|ULK3_uc010ult.1_Missense_Mutation_p.Q29L|ULK3_uc010ulu.1_Missense_Mutation_p.Q29L NM_001099436 NP_001092906 Q6PHR2 ULK3_HUMAN unc-51-like kinase 3 119 Protein kinase. cytoplasm ATP binding|protein serine/threonine kinase activity breast(2) 2 ACCTAATTGCTGCATGAAGAC 0.577 NA 17 192 0 0 0.008871 0 0 LOC645752 645752 broad.mit.edu 37 15 78211193 78211193 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr15:78211193G>T uc010bky.2 - 11 1338 c.574C>A c.(574-576)CAA>AAA p.Q192K NR_027024 SubName: Full=GOLGA6 protein; Flags: Fragment; 0 TCCTGCTTTTGTAGCCTGTCC 0.592 NA 11 166 1.15919e-05 1.45776e-05 0.008871 1 0 ZNF597 146434 broad.mit.edu 37 16 3490906 3490906 + Missense_Mutation SNP C C G TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr16:3490906C>G uc002cvd.2 - 3 245 c.61G>C c.(61-63)GTG>CTG p.V21L NAT15_uc002cvh.3_5'Flank|NAT15_uc010uxb.1_5'Flank NM_152457 NP_689670 Q96LX8 ZN597_HUMAN zinc finger protein 597 21 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GAAAAATACACAGCCAGATCC 0.512 NA 12 86 0 0 0.001855 0 0 GRIN2A 2903 broad.mit.edu 37 16 9857275 9857275 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr16:9857275G>T uc002czo.3 - 13 4674 c.4126C>A c.(4126-4128)CGC>AGC p.R1376S GRIN2A_uc010uym.1_Missense_Mutation_p.R1376S|GRIN2A_uc010uyn.1_Missense_Mutation_p.N1104K|GRIN2A_uc002czr.3_Missense_Mutation_p.N1261K NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 1376 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ATAACCAAGCGTTGGTCATCC 0.562 NA 17 87 1.00905e-13 1.71621e-13 0.008871 1 0 MYH11 4629 broad.mit.edu 37 16 15839064 15839064 + Silent SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr16:15839064G>T uc002ddy.2 - 20 2549 c.2442C>A c.(2440-2442)ACC>ACA p.T814T MYH11_uc002ddv.2_Silent_p.T821T|MYH11_uc002ddw.2_Silent_p.T814T|MYH11_uc002ddx.2_Silent_p.T821T|MYH11_uc010bvg.2_Silent_p.T646T NM_002474 NP_002465 P35749 MYH11_HUMAN smooth muscle myosin heavy chain 11 isoform 814 IQ. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1) 15 CCTTCATGGCGGTCAGCTGCT 0.617 NA T CBFB AML 15 64 3.45872e-05 4.28468e-05 0.004007 1 0 ACSM2B 348158 broad.mit.edu 37 16 20554536 20554536 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr16:20554536G>T uc002dhj.3 - 12 1540 c.1330C>A c.(1330-1332)CTT>ATT p.L444I ACSM2B_uc002dhk.3_Missense_Mutation_p.L444I|ACSM2B_uc010bwf.1_Missense_Mutation_p.L444I NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 444 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 CGGTCTCCAAGGAGCCAAAAG 0.493 NA 28 264 3.73988e-18 6.74805e-18 0.00632 1 0 USP31 57478 broad.mit.edu 37 16 23080502 23080502 + Missense_Mutation SNP C C T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr16:23080502C>T uc002dll.2 - 16 2924 c.2924G>A c.(2923-2925)CGC>CAC p.R975H USP31_uc002dlk.2_Missense_Mutation_p.R247H|USP31_uc010vca.1_Missense_Mutation_p.R278H|USP31_uc010bxm.2_Missense_Mutation_p.R263H NM_020718 NP_065769 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 975 Ser-rich. ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1) 10 GBM - Glioblastoma multiforme(48;0.0187) CGGGGGCAGGCGGTCCCCTTG 0.517 NA 20 142 0 0 0.008871 0 0 ITGAX 3687 broad.mit.edu 37 16 31391640 31391640 + Missense_Mutation SNP C C G TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr16:31391640C>G uc002ebu.1 + 27 3181 c.3114C>G c.(3112-3114)AGC>AGG p.S1038R ITGAX_uc002ebt.2_Missense_Mutation_p.S1038R NM_000887 NP_000878 P20702 ITAX_HUMAN integrin alpha X precursor 1038 Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 CCTCCTTCAGCGTCCAGGAGG 0.607 NA 4 34 0 0 0.009096 0 0 CBLN1 869 broad.mit.edu 37 16 49313499 49313499 + Missense_Mutation SNP A A C TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr16:49313499A>C uc002efq.2 - 3 737 c.398T>G c.(397-399)CTA>CGA p.L133R NM_004352 NP_004343 P23435 CBLN1_HUMAN cerebellin 1 precursor 133 C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity). nervous system development|synaptic transmission cell junction|extracellular region|synapse 0 all_cancers(37;0.0766)|all_lung(18;0.24) CCACCCGTTTAGCATGAGGCT 0.607 NA 8 56 0 0 0.006214 0 0 SALL1 6299 broad.mit.edu 37 16 51173271 51173271 + Silent SNP G G A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr16:51173271G>A uc010vgs.1 - 2 2893 c.2862C>T c.(2860-2862)AGC>AGT p.S954S SALL1_uc010vgr.1_Silent_p.S857S|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 954 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TGGCAAACTCGCTTGGGACCG 0.517 GBM(103;1352 1446 1855 4775 8890) NA 9 60 0 0 0.008291 0 0 SLC6A2 6530 broad.mit.edu 37 16 55728015 55728015 + Missense_Mutation SNP A A T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr16:55728015A>T uc002eif.2 + 7 1123 c.1012A>T c.(1012-1014)AAC>TAC p.N338Y SLC6A2_uc010ccd.2_Missense_Mutation_p.N338Y|SLC6A2_uc002eig.2_Missense_Mutation_p.N338Y|SLC6A2_uc002eih.2_Missense_Mutation_p.N338Y|SLC6A2_uc002eii.2_Missense_Mutation_p.N233Y|SLC6A2_uc002eij.2_Missense_Mutation_p.N52Y NM_001043 NP_001034 P23975 SC6A2_HUMAN solute carrier family 6 member 2 338 synaptic transmission integral to plasma membrane|membrane fraction norepinephrine:sodium symporter activity lung(4)|ovary(2)|pancreas(2) 8 BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267) Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285) ATTTGACAACAACTGTTACAG 0.438 NA 32 161 0 0 0.003271 0 0 GNAO1 2775 broad.mit.edu 37 16 56377812 56377812 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr16:56377812G>T uc002eit.3 + 8 1912 c.1015G>T c.(1015-1017)GTG>TTG p.V339L GNAO1_uc002eiu.3_Intron NM_138736 NP_620073 P09471 GNAO_HUMAN guanine nucleotide binding protein, alpha 339 dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity lung(1)|breast(1) 2 all_neural(199;0.159) CTTTGATGCTGTGACGGACGT 0.617 NA 11 74 6.40141e-05 7.74515e-05 0.000978 1 0 TMCO7 79613 broad.mit.edu 37 16 68894053 68894053 + Missense_Mutation SNP C C T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr16:68894053C>T uc002ewi.3 + 2 373 c.361C>T c.(361-363)CCC>TCC p.P121S TMCO7_uc002ewh.2_Missense_Mutation_p.P121S NM_024562 NP_078838 Q9C0B7 TMCO7_HUMAN transmembrane and coiled-coil domains 7 121 integral to membrane binding 0 Ovarian(137;0.0568) OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198) TCCAGGTAAACCCAACCCTAG 0.468 NA 46 280 0 0 0.00361 0 0 HYDIN 54768 broad.mit.edu 37 16 71019123 71019123 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr16:71019123G>T uc002ezr.2 - 28 4422 c.4294C>A c.(4294-4296)CTT>ATT p.L1432I NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 1433 ovary(1)|skin(1) 2 Ovarian(137;0.0654) CCAGGGAGAAGGTTGTCTGGA 0.517 NA 7 30 0.00621372 0.0066979 0.006214 1 0 CNTNAP4 85445 broad.mit.edu 37 16 76461392 76461392 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr16:76461392G>T uc002feu.1 + 6 819 c.434G>T c.(433-435)AGA>ATA p.R145I CNTNAP4_uc002fev.1_Missense_Mutation_p.R57I|CNTNAP4_uc010chb.1_Missense_Mutation_p.R120I|CNTNAP4_uc002fex.1_Missense_Mutation_p.R148I|CNTNAP4_uc002few.2_Missense_Mutation_p.R120I NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 145 Extracellular (Potential).|F5/8 type C. cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 GTGTACTATAGACTCCAGCCT 0.433 NA 30 143 2.80507e-11 4.46017e-11 0.002445 1 0 ADAMTS18 170692 broad.mit.edu 37 16 77317955 77317955 + Nonsense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr16:77317955G>T uc002ffc.3 - 23 3983 c.3564C>A c.(3562-3564)TGC>TGA p.C1188* NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 1188 PLAC. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 AGAAATCTACGCAGGATGGAT 0.333 NA 6 98 0.00198382 0.00218378 0.001984 1 0 COTL1 23406 broad.mit.edu 37 16 84623755 84623755 + Missense_Mutation SNP C C T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr16:84623755C>T uc002fid.2 - 3 423 c.274G>A c.(274-276)GCC>ACC p.A92T COTL1_uc002fie.2_Intron|COTL1_uc010chk.2_RNA NM_021149 NP_066972 Q14019 COTL1_HUMAN coactosin-like 1 92 ADF-H. cytoplasm|cytoskeleton actin binding|enzyme binding skin(1) 1 CCGGTTTTGGCGCGCTGCAGC 0.597 NA 4 81 0 0 0.009096 0 0 CENPBD1 92806 broad.mit.edu 37 16 90038268 90038268 + Silent SNP C C G TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr16:90038268C>G uc002fpr.2 - 1 675 c.63G>C c.(61-63)GCG>GCC p.A21A AFG3L1_uc002fps.1_5'Flank|AFG3L1_uc002fpt.1_5'Flank|AFG3L1_uc002fpu.1_5'Flank|AFG3L1_uc002fpv.1_5'Flank|AFG3L1_uc002fpw.1_5'Flank|AFG3L1_uc002fpx.1_5'Flank NM_145039 NP_659476 B2RD01 CENP1_HUMAN CENPB DNA-binding domains containing 1 21 HTH psq-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding 0 CAAGGGTAATCGCTTTCCGTT 0.488 NA 9 50 0 0 0.000978 0 0 CHRNE 1145 broad.mit.edu 37 17 4804399 4804399 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr17:4804399C>A uc002fzk.1 - 7 699 c.688G>T c.(688-690)GTC>TTC p.V230F C17orf107_uc002fzl.3_3'UTR NM_000080 NP_000071 Q04844 ACHE_HUMAN nicotinic acetylcholine receptor epsilon 230 Extracellular (Potential). muscle contraction|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 GAGTAGATGACGTCAGTCTCC 0.652 NA 14 112 1.5739e-10 2.45552e-10 0.004007 1 0 TP53 7157 broad.mit.edu 37 17 7577535 7577535 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr17:7577535C>A uc002gim.2 - 7 940 c.746G>T c.(745-747)AGG>ATG p.R249M TP53_uc002gig.1_Missense_Mutation_p.R249M|TP53_uc002gih.2_Missense_Mutation_p.R249M|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R117M|TP53_uc010cng.1_Missense_Mutation_p.R117M|TP53_uc002gii.1_Missense_Mutation_p.R117M|TP53_uc010cnh.1_Missense_Mutation_p.R249M|TP53_uc010cni.1_Missense_Mutation_p.R249M|TP53_uc002gij.2_Missense_Mutation_p.R249M|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R156M|TP53_uc002gio.2_Missense_Mutation_p.R117M NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 249 |Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> I (in a sporadic cancer; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R249S(303)|p.R249M(25)|p.R249G(24)|p.R249W(23)|p.R249T(16)|p.R249K(14)|p.0?(7)|p.R249R(6)|p.R249fs*96(6)|p.M246_P250delMNRRP(2)|p.R249fs*14(2)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.R249_P250insR(1)|p.R249_P250>SS(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*19(1)|p.R249_T256delRPILTIIT(1)|p.R249fs*15(1)|p.R249_I251delRPI(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GAGGATGGGCCTCCGGTTCAT 0.567 Pancreas(47;798 1329 9957 10801) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 17 55 1.40151e-16 2.50701e-16 0.010504 1 0 MYH8 4626 broad.mit.edu 37 17 10298575 10298575 + Missense_Mutation SNP C C G TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr17:10298575C>G uc002gmm.2 - 34 4932 c.4837G>C c.(4837-4839)GAT>CAT p.D1613H uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 1613 Potential. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 CTCAGAGCATCATTTCTGCTT 0.448 NA Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 17 143 0 0 0.00499 0 0 MYH8 4626 broad.mit.edu 37 17 10301785 10301785 + Missense_Mutation SNP C C A rs147143044 TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr17:10301785C>A uc002gmm.2 - 30 4249 c.4154G>T c.(4153-4155)CGC>CTC p.R1385L uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 1385 Potential. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 CTCCTCTGTGCGCTGGATGGC 0.512 NA Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 47 227 1.38658e-30 2.70155e-30 0.00361 1 0 DNAH9 1770 broad.mit.edu 37 17 11757701 11757701 + Missense_Mutation SNP A A T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr17:11757701A>T uc002gne.2 + 50 9957 c.9889A>T c.(9889-9891)ACA>TCA p.T3297S DNAH9_uc010coo.2_Missense_Mutation_p.T2591S NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 3297 Stalk (By similarity).|Potential. cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CGCGGACCTCACAGCTGCCCA 0.557 NA 13 58 0 0 0.00245 0 0 MAPK7 5598 broad.mit.edu 37 17 19285382 19285382 + Missense_Mutation SNP C C G TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr17:19285382C>G uc002gvn.2 + 5 2152 c.1766C>G c.(1765-1767)CCT>CGT p.P589R MAPK7_uc002gvo.2_Missense_Mutation_p.P450R|MAPK7_uc002gvq.2_Missense_Mutation_p.P589R|MAPK7_uc002gvp.2_Missense_Mutation_p.P589R|uc010vyt.1_5'Flank NM_139033 NP_620602 Q13164 MK07_HUMAN mitogen-activated protein kinase 7 isoform 1 589 May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).|Pro-rich. cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase activity|protein binding p.P589S(1) central_nervous_system(4)|lung(3)|stomach(1)|skin(1) 9 all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206) gtgccggcccctgccccagcg 0.373 NA 5 12 0 0 0.001984 0 0 CPD 1362 broad.mit.edu 37 17 28754530 28754530 + Silent SNP C C T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr17:28754530C>T uc002hfb.1 + 7 1986 c.1971C>T c.(1969-1971)AGC>AGT p.S657S CPD_uc010wbo.1_Silent_p.S410S|CPD_uc010wbp.1_RNA NM_001304 NP_001295 O75976 CBPD_HUMAN carboxypeptidase D precursor 657 Extracellular (Potential).|Carboxypeptidase-like 2. proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding liver(1)|skin(1) 2 CTGTAATGAGCTGGATGAAGT 0.408 NA 24 179 0 0 0.00333 0 0 MYO1D 4642 broad.mit.edu 37 17 31075963 31075963 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr17:31075963C>A uc002hho.1 - 12 1541 c.1529G>T c.(1528-1530)GGC>GTC p.G510V MYO1D_uc002hhp.1_Missense_Mutation_p.G510V NM_015194 NP_056009 O94832 MYO1D_HUMAN myosin ID 510 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(9;0.0362) CACTACATCGCCTGCATAATG 0.368 NA 21 142 3.08376e-08 4.32352e-08 0.00333 1 0 MYO1D 4642 broad.mit.edu 37 17 31075976 31075976 + Nonsense_Mutation SNP G G A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr17:31075976G>A uc002hho.1 - 12 1528 c.1516C>T c.(1516-1518)CGA>TGA p.R506* MYO1D_uc002hhp.1_Nonsense_Mutation_p.R506* NM_015194 NP_056009 O94832 MYO1D_HUMAN myosin ID 506 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(9;0.0362) GCATAATGTCGAATTCGAAAA 0.373 NA 22 147 0 0 0.00333 0 0 CNTD1 124817 broad.mit.edu 37 17 40958759 40958759 + Silent SNP C C T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr17:40958759C>T uc002ibm.3 + 5 880 c.648C>T c.(646-648)GTC>GTT p.V216V CNTD1_uc010wha.1_Silent_p.V133V NM_173478 NP_775749 Q8N815 CNTD1_HUMAN cyclin N-terminal domain containing 1 216 central_nervous_system(1) 1 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0749) TCGACCTGGTCTATCTTCTGC 0.488 NA 17 164 0 0 0.007413 0 0 C17orf46 124783 broad.mit.edu 37 17 43332762 43332762 + Missense_Mutation SNP G G A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr17:43332762G>A uc002iis.1 - 4 883 c.787C>T c.(787-789)CAC>TAC p.H263Y LOC100133991_uc010dah.2_Intron|C17orf46_uc010wjk.1_Missense_Mutation_p.H242Y NM_152343 NP_689556 Q96LK8 CQ046_HUMAN hypothetical protein LOC124783 263 large_intestine(1)|ovary(1) 2 TTCATCATGTGTTCCAAACTG 0.582 NA 6 97 0 0 0.001168 0 0 NXPH3 11248 broad.mit.edu 37 17 47656499 47656499 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr17:47656499G>T uc002ipa.2 + 2 880 c.596G>T c.(595-597)TGC>TTC p.C199F NXPH3_uc010wlw.1_Missense_Mutation_p.C199F NM_007225 NP_009156 O95157 NXPH3_HUMAN neurexophilin 3 precursor 199 V (Cys-rich). neuropeptide signaling pathway extracellular region pancreas(1)|skin(1) 2 all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17) GCCAAGATCTGCTCCCGAGAC 0.602 NA 24 132 2.79863e-10 4.31759e-10 0.004656 1 0 LRRC59 55379 broad.mit.edu 37 17 48462617 48462617 + Missense_Mutation SNP T T C TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr17:48462617T>C uc002iqt.2 - 6 692 c.538A>G c.(538-540)AAG>GAG p.K180E NM_018509 NP_060979 Q96AG4 LRC59_HUMAN leucine rich repeat containing 59 180 Potential.|Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial nucleoid protein binding central_nervous_system(1) 1 Breast(11;5.62e-19) BRCA - Breast invasive adenocarcinoma(22;2.43e-08) TGAGCTTCCTTAGCTCGCTGC 0.527 NA 35 224 0 0 0.006999 0 0 CA10 56934 broad.mit.edu 37 17 49710858 49710858 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr17:49710858C>A uc002itw.3 - 8 1929 c.943G>T c.(943-945)GCC>TCC p.A315S CA10_uc002itu.3_Missense_Mutation_p.A244S|CA10_uc002itv.3_Missense_Mutation_p.A321S|CA10_uc002itx.3_Missense_Mutation_p.A315S|CA10_uc002ity.3_Missense_Mutation_p.A315S|CA10_uc002itz.2_Missense_Mutation_p.A315S NM_020178 NP_064563 Q9NS85 CAH10_HUMAN carbonic anhydrase X 315 brain development ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) AGCTTCTGGGCTCGGTTGTTT 0.512 NA 6 100 5.4927e-09 7.99815e-09 0.004482 1 0 TANC2 26115 broad.mit.edu 37 17 61498459 61498459 + Nonsense_Mutation SNP C C T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr17:61498459C>T uc002jal.3 + 25 5139 c.5116C>T c.(5116-5118)CGA>TGA p.R1706* TANC2_uc010wpe.1_3'UTR|TANC2_uc002jao.3_Nonsense_Mutation_p.R817* NM_025185 NP_079461 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and 1706 binding ovary(2) 2 CTCAGCATACCGAGGTGGCGT 0.567 NA 19 279 0 0 0.007413 0 0 ABCA9 10350 broad.mit.edu 37 17 66986013 66986013 + Missense_Mutation SNP C C A rs149991432 TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr17:66986013C>A uc002jhu.2 - 30 4039 c.3896G>T c.(3895-3897)TGC>TTC p.C1299F ABCA9_uc010dez.2_Missense_Mutation_p.C1261F NM_080283 NP_525022 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A, member 9 1299 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 Breast(10;1.47e-12) TTTAGAAAAGCAATTTTTCTT 0.358 NA 13 106 7.03913e-09 1.01432e-08 0.001368 1 0 ABCA5 23461 broad.mit.edu 37 17 67243691 67243691 + Missense_Mutation SNP C C T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr17:67243691C>T uc002jif.2 - 38 6134 c.4916G>A c.(4915-4917)AGA>AAA p.R1639K ABCA10_uc010dfa.1_5'Flank|ABCA5_uc002jib.2_Missense_Mutation_p.R605K|ABCA5_uc002jic.2_Missense_Mutation_p.R862K|ABCA5_uc002jid.2_Missense_Mutation_p.R556K|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Missense_Mutation_p.R1639K NM_018672 NP_061142 Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A , member 5 1639 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;3.72e-11) AAATACTACTCTATCTTCTTG 0.333 NA 8 108 0 0 0.004482 0 0 ABCA5 23461 broad.mit.edu 37 17 67309240 67309240 + Silent SNP T T C rs146635038 TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr17:67309240T>C uc002jif.2 - 2 1518 c.300A>G c.(298-300)CTA>CTG p.L100L ABCA5_uc002jig.2_Silent_p.L100L|ABCA5_uc002jih.2_Silent_p.L100L|ABCA5_uc010dfe.2_Silent_p.L100L NM_018672 NP_061142 Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A , member 5 100 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;3.72e-11) TACCATCAGGTAGATGATCAG 0.313 NA 5 66 0 0 0.000602 0 0 P4HB 5034 broad.mit.edu 37 17 79813036 79813036 + Silent SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr17:79813036C>A uc002kbn.1 - 4 803 c.606G>T c.(604-606)GGG>GGT p.G202G P4HB_uc002kbm.1_5'UTR NM_000918 NP_000909 P07237 PDIA1_HUMAN prolyl 4-hydroxylase, beta subunit precursor 202 cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509) AGAGGACAACCCCATCTTTGT 0.527 Colon(49;444 983 1296 7887 42561) NA 49 287 2.81731e-22 5.29042e-22 0.00361 1 0 FAM38B 63895 broad.mit.edu 37 18 10680359 10680359 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr18:10680359G>T uc002kor.3 - 10 1461 c.1321C>A c.(1321-1323)CAA>AAA p.Q441K FAM38B_uc002koq.2_Missense_Mutation_p.Q276K NM_022068 NP_071351 Q9H5I5 PIEZ2_HUMAN family with sequence similarity 38, member B 2484 integral to membrane ion channel activity ovary(1) 1 TCCAGAAATTGCATAGCACCC 0.378 NA 6 91 0.00307968 0.00337221 0.00308 1 0 CEP192 55125 broad.mit.edu 37 18 13095519 13095519 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr18:13095519G>T uc010xac.1 + 35 6352 c.6272G>T c.(6271-6273)GGG>GTG p.G2091V CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.G1616V|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Missense_Mutation_p.G513V|CEP192_uc002krw.2_Missense_Mutation_p.G240V|CEP192_uc002krx.2_Missense_Mutation_p.G95V|CEP192_uc002kry.2_RNA NM_032142 NP_115518 E9PF99 E9PF99_HUMAN centrosomal protein 192kDa 2091 ovary(4)|pancreas(1) 5 GGAGCTTCTGGGAAACATGGT 0.438 NA 93 224 4.98208e-43 9.79887e-43 0.00361 1 0 DSG3 1830 broad.mit.edu 37 18 29054280 29054280 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr18:29054280G>T uc002kws.2 + 15 2407 c.2298G>T c.(2296-2298)ATG>ATT p.M766I DSG3_uc002kwt.2_Missense_Mutation_p.M48I NM_001944 NP_001935 P32926 DSG3_HUMAN desmoglein 3 preproprotein 766 Cytoplasmic (Potential). cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding skin(4)|ovary(3)|lung(1)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CTGGAACCATGAGAACAAGGC 0.507 NA 20 112 4.96729e-08 6.84859e-08 0.008871 1 0 ZCCHC2 54877 broad.mit.edu 37 18 60243765 60243765 + Missense_Mutation SNP G G C TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr18:60243765G>C uc002lip.3 + 14 3490 c.3490G>C c.(3490-3492)GCA>CCA p.A1164P ZCCHC2_uc002lio.2_RNA|ZCCHC2_uc002liq.2_Missense_Mutation_p.A634P NM_017742 NP_060212 Q9C0B9 ZCHC2_HUMAN zinc finger, CCHC domain containing 2 1164 cell communication cytoplasm nucleic acid binding|phosphatidylinositol binding|zinc ion binding lung(1)|prostate(1) 2 ACTGAGATACGCACCTCCCCT 0.473 NA 3 30 0 0 0.009096 0 0 TSHZ1 10194 broad.mit.edu 37 18 72998565 72998565 + Silent SNP C C G TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr18:72998565C>G uc002lly.2 + 2 1631 c.1068C>G c.(1066-1068)GGC>GGG p.G356G NM_005786 NP_005777 Q6ZSZ6 TSH1_HUMAN teashirt family zinc finger 1 401 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) ACCAGAATGGCGCCAGCTACA 0.612 NA 5 53 0 0 0.001984 0 0 MIER2 54531 broad.mit.edu 37 19 313534 313534 + Silent SNP C C G TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr19:313534C>G uc002lok.1 - 8 774 c.765G>C c.(763-765)GGG>GGC p.G255G NM_017550 NP_060020 Q8N344 MIER2_HUMAN mesoderm induction early response 1, family 255 ELM2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGAGCTGAGGCCCGGCCATCT 0.677 NA 7 110 0 0 0.00308 0 0 TLE6 79816 broad.mit.edu 37 19 2989238 2989238 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr19:2989238G>T uc002lwu.2 + 11 951 c.551G>T c.(550-552)AGA>ATA p.R184I TLE6_uc002lwt.2_Missense_Mutation_p.R307I|TLE6_uc010dtg.2_Missense_Mutation_p.R307I|TLE6_uc002lwv.2_Missense_Mutation_p.R88I NM_024760 NP_079036 Q9H808 TLE6_HUMAN transducin-like enhancer of split 6 isoform 2 184 WD 1. regulation of transcription, DNA-dependent nucleus ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGTGGCAGAAGAGGCATCAAG 0.602 NA 4 46 0.00909568 0.00975377 0.009096 1 0 XAB2 56949 broad.mit.edu 37 19 7684528 7684528 + Silent SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr19:7684528G>T uc002mgx.2 - 19 2538 c.2512C>A c.(2512-2514)CGG>AGG p.R838R NM_020196 NP_064581 Q9HCS7 SYF1_HUMAN XPA binding protein 2 838 transcription, DNA-dependent|transcription-coupled nucleotide-excision repair catalytic step 2 spliceosome|nucleoplasm protein binding central_nervous_system(2)|breast(1)|skin(1) 4 TGCTCCAGCCGAACCTCTGTG 0.701 NA Direct_reversal_of_damage|NER 4 35 1.23904e-05 1.5488e-05 0.000602 1 0 MUC16 94025 broad.mit.edu 37 19 9064438 9064438 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr19:9064438G>T uc002mkp.2 - 3 23212 c.23008C>A c.(23008-23010)CCT>ACT p.P7670T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 7672 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 ACACCTCCAGGACCTCTGCCC 0.527 NA 6 62 0.00198382 0.00218378 0.001984 1 0 MUC16 94025 broad.mit.edu 37 19 9064463 9064463 + Silent SNP C C T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr19:9064463C>T uc002mkp.2 - 3 23187 c.22983G>A c.(22981-22983)GAG>GAA p.E7661E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 7663 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 AAGTGGTCATCTCTGGGTGTG 0.517 NA 6 59 0 0 0.001984 0 0 MUC16 94025 broad.mit.edu 37 19 9073402 9073402 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr19:9073402G>T uc002mkp.2 - 3 14248 c.14044C>A c.(14044-14046)CAG>AAG p.Q4682K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 4684 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GACCCTGTCTGGGTGGTGGTC 0.483 NA 37 191 1.49673e-21 2.7854e-21 0.00623 1 0 TRMT1 55621 broad.mit.edu 37 19 13223573 13223573 + Silent SNP C C A rs147062421 byFrequency TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr19:13223573C>A uc002mwj.2 - 6 1066 c.816G>T c.(814-816)ACG>ACT p.T272T TRMT1_uc002mwk.2_Silent_p.T272T|TRMT1_uc002mwl.3_Silent_p.T272T|TRMT1_uc010xmz.1_Silent_p.T58T NM_017722 NP_060192 Q9NXH9 TRM1_HUMAN tRNA methyltransferase 1 isoform 1 272 RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding ovary(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(19;6.08e-22) GBM - Glioblastoma multiforme(1328;0.0356) TGCTGTAGCACGTCTCCCCGC 0.667 NA 8 53 1.12685e-05 1.42141e-05 0.004482 1 0 SLC27A1 376497 broad.mit.edu 37 19 17599848 17599848 + Silent SNP C C T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr19:17599848C>T uc002ngu.1 + 6 968 c.918C>T c.(916-918)ATC>ATT p.I306I SLC27A1_uc002ngt.1_Silent_p.I38I|SLC27A1_uc010xpp.1_Silent_p.I127I NM_198580 NP_940982 Q6PCB7 S27A1_HUMAN solute carrier family 27, member 1 306 Sufficient for oligomerization (By similarity).|Cytoplasmic (Potential). cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport endomembrane system|integral to membrane fatty acid transporter activity|nucleotide binding 0 AGTGTCTCATCTATGGGCTGA 0.557 NA 8 53 0 0 0.004482 0 0 ZNF492 57615 broad.mit.edu 37 19 22847799 22847799 + Missense_Mutation SNP A A G TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr19:22847799A>G uc002nqw.3 + 4 1572 c.1328A>G c.(1327-1329)CAT>CGT p.H443R NM_020855 NP_065906 Q9P255 ZN492_HUMAN zinc finger protein 492 443 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) AAGGTAATTCATACTGGAGAG 0.378 NA 7 38 0 0 0.001984 0 0 TSHZ3 57616 broad.mit.edu 37 19 31768256 31768256 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr19:31768256G>T uc002nsy.3 - 2 2508 c.2443C>A c.(2443-2445)CCG>ACG p.P815T NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 815 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) GAGGTTGCCGGGGCTGTGGAC 0.532 NA 20 82 1.10513e-12 1.81996e-12 0.002299 1 0 GPI 2821 broad.mit.edu 37 19 34859562 34859562 + Missense_Mutation SNP G G T rs11548996 TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr19:34859562G>T uc002nvg.1 + 4 460 c.357G>T c.(355-357)ATG>ATT p.M119I GPI_uc002nvf.2_Missense_Mutation_p.M158I|GPI_uc010xrv.1_Missense_Mutation_p.M158I|GPI_uc010xrw.1_Missense_Mutation_p.M119I|GPI_uc010edl.1_Missense_Mutation_p.M119I|GPI_uc002nvh.1_3'UTR NM_000175 NP_000166 P06744 G6PI_HUMAN glucose phosphate isomerase 119 angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response cytosol|extracellular space|nucleus|plasma membrane cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity ovary(1)|kidney(1) 2 Esophageal squamous(110;0.162) AGGATGTGATGCCAGAGGTCA 0.552 NA 13 81 9.05144e-12 1.45595e-11 0.001855 1 0 ATP1A3 478 broad.mit.edu 37 19 42480646 42480646 + Silent SNP C C T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr19:42480646C>T uc002osg.2 - 15 2170 c.2016G>A c.(2014-2016)CTG>CTA p.L672L ATP1A3_uc010xwf.1_Silent_p.L683L|ATP1A3_uc010xwg.1_Silent_p.L642L|ATP1A3_uc010xwh.1_Silent_p.L685L|ATP1A3_uc002osh.2_Silent_p.L672L NM_152296 NP_689509 P13637 AT1A3_HUMAN Na+/K+ -ATPase alpha 3 subunit 672 Cytoplasmic (Potential). ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(1)|pancreas(1) 2 TGTGATTCTGCAGGATCTCGT 0.597 NA 14 77 0 0 0.004007 0 0 SHANK1 50944 broad.mit.edu 37 19 51220030 51220030 + Silent SNP A A G TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr19:51220030A>G uc002psx.1 - 1 166 c.147T>C c.(145-147)GGT>GGC p.G49G NM_016148 NP_057232 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 49 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding large_intestine(2) 2 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) AGGCCAGGCTACCAGGTGCCC 0.692 NA 14 37 0 0 0.004007 0 0 ZNF813 126017 broad.mit.edu 37 19 53994225 53994225 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr19:53994225G>T uc002qbu.2 + 4 867 c.739G>T c.(739-741)GTA>TTA p.V247L ZNF813_uc010eqq.1_Intron NM_001004301 NP_001004301 Q6ZN06 ZN813_HUMAN zinc finger protein 813 247 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) TAAATGTGATGTATGTGGCAA 0.393 NA 15 75 0.00498961 0.00540649 0.00499 1 0 PRKCG 5582 broad.mit.edu 37 19 54396639 54396639 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr19:54396639G>T uc002qcq.1 + 9 1215 c.933G>T c.(931-933)TTG>TTT p.L311F PRKCG_uc010eqz.1_Missense_Mutation_p.L311F|PRKCG_uc010yef.1_Missense_Mutation_p.C282F|PRKCG_uc010yeg.1_Missense_Mutation_p.L311F|PRKCG_uc010yeh.1_Missense_Mutation_p.L198F NM_002739 NP_002730 P05129 KPCG_HUMAN protein kinase C, gamma 311 activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding lung(4)|ovary(2)|pancreas(2)|large_intestine(1) 9 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) CCCTGGAATTGTATGAGGTGA 0.507 NA 13 63 1.36491e-13 2.31199e-13 0.001855 1 0 LILRB5 10990 broad.mit.edu 37 19 54760185 54760185 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr19:54760185G>T uc002qex.2 - 4 487 c.376C>A c.(376-378)CTT>ATT p.L126I LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Intron|LILRB5_uc002qey.2_Missense_Mutation_p.L126I|LILRB5_uc002qez.2_Intron|LILRB5_uc002qfa.1_Intron|LILRB5_uc010yes.1_Intron NM_006840 NP_006831 O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, 126 Extracellular (Potential).|Ig-like C2-type 2. cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity ovary(1)|pancreas(1) 2 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) AGGGCTAAAAGAGTGGGTTCT 0.552 NA 21 88 1.22574e-08 1.75407e-08 0.002299 1 0 LILRA3 11026 broad.mit.edu 37 19 54801976 54801976 + Silent SNP G G A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr19:54801976G>A uc002qfd.2 - 6 1277 c.1212C>T c.(1210-1212)AAC>AAT p.N404N LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Silent_p.N340N NM_006865 NP_006856 Q8N6C8 LIRA3_HUMAN leukocyte immunoglobulin-like receptor, 404 Ig-like C2-type 4. defense response extracellular region|plasma membrane antigen binding|receptor activity ovary(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GCAGGTAGGGGTTGGAGCTGA 0.617 NA 19 186 0 0 0.001882 0 0 NLRP2 55655 broad.mit.edu 37 19 55501959 55501959 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr19:55501959C>A uc002qij.2 + 10 2713 c.2627C>A c.(2626-2628)GCC>GAC p.A876D NLRP2_uc010yfp.1_Missense_Mutation_p.A853D|NLRP2_uc010esn.2_Missense_Mutation_p.A852D|NLRP2_uc010eso.2_Missense_Mutation_p.A873D|NLRP2_uc010esp.2_Missense_Mutation_p.A854D NM_017852 NP_060322 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 876 LRR 3. 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) CTGTGCTTGGCCAAGAACCCC 0.522 NA 8 123 5.4927e-09 7.99815e-09 0.004482 1 0 APOB 338 broad.mit.edu 37 2 21235206 21235206 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr2:21235206C>A uc002red.2 - 26 4662 c.4534G>T c.(4534-4536)GGC>TGC p.G1512C NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 1512 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTGAGCCGGCCAGTGTTAGGA 0.478 NA 12 79 5.50884e-06 7.01278e-06 0.001368 1 0 ASXL2 55252 broad.mit.edu 37 2 25967101 25967101 + Missense_Mutation SNP C C T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr2:25967101C>T uc002rgs.2 - 12 2326 c.2105G>A c.(2104-2106)GGA>GAA p.G702E ASXL2_uc002rgt.1_Missense_Mutation_p.G442E NM_018263 NP_060733 Q76L83 ASXL2_HUMAN additional sex combs like 2 702 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding pancreas(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACCACCCTCTCCTGGACCTTG 0.642 NA 13 178 0 0 0.003163 0 0 RASGRP3 25780 broad.mit.edu 37 2 33747045 33747045 + Missense_Mutation SNP G G A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr2:33747045G>A uc002rox.2 + 8 1019 c.392G>A c.(391-393)AGA>AAA p.R131K RASGRP3_uc010ync.1_Missense_Mutation_p.R131K|RASGRP3_uc002roy.2_Missense_Mutation_p.R131K NM_170672 NP_733772 Q8IV61 GRP3_HUMAN RAS guanyl releasing protein 3 (calcium and 131 MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity lung(3)|ovary(1)|pancreas(1) 5 all_hematologic(175;0.115) TGGATGAGAAGAGTCACACAG 0.438 NA 15 124 0 0 0.00245 0 0 LRPPRC 10128 broad.mit.edu 37 2 44204192 44204192 + Splice_Site SNP C C T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr2:44204192C>T uc002rtr.2 - 5 650 c.592_splice c.e5-1 p.V198_splice LRPPRC_uc010yob.1_Splice_Site_p.V98_splice|LRPPRC_uc010faw.1_Splice_Site_p.V172_splice NM_133259 NP_573566 P42704 LPPRC_HUMAN leucine-rich PPR motif-containing protein mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding ovary(2)|skin(1) 3 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) GGTATGTCACCTGTCAATGAA 0.313 NA 5 39 0 0 0.001984 0 0 AFTPH 54812 broad.mit.edu 37 2 64779295 64779295 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr2:64779295G>T uc002sdc.2 + 1 719 c.687G>T c.(685-687)GAG>GAT p.E229D AFTPH_uc002scz.2_Missense_Mutation_p.E229D|AFTPH_uc002sda.2_Missense_Mutation_p.E229D|AFTPH_uc002sdb.2_Missense_Mutation_p.E229D NM_203437 NP_982261 Q6ULP2 AFTIN_HUMAN aftiphilin protein isoform a 229 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding ovary(2) 2 GTCCTGCTGAGGAATTTGCAG 0.393 NA 20 68 1.22574e-08 1.75407e-08 0.002299 1 0 MOGS 7841 broad.mit.edu 37 2 74688860 74688860 + Missense_Mutation SNP C C T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr2:74688860C>T uc010ffj.2 - 4 2219 c.2056G>A c.(2056-2058)GTA>ATA p.V686I MOGS_uc010ffh.2_Missense_Mutation_p.V411I|MOGS_uc010yrt.1_Missense_Mutation_p.V567I|MOGS_uc010ffi.2_Missense_Mutation_p.V580I NM_006302 NP_006293 Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase isoform 1 686 Lumenal (Potential). oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|membrane fraction mannosyl-oligosaccharide glucosidase activity 0 AGAGCATCTACATACTGCAGT 0.592 NA 16 131 0 0 0.006122 0 0 LRRTM1 347730 broad.mit.edu 37 2 80530299 80530299 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr2:80530299G>T uc002sok.1 - 2 916 c.646C>A c.(646-648)CTC>ATC p.L216I CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA NM_178839 NP_849161 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 216 LRR 6.|Lumenal (Potential). axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 TTGTGCTCGAGGTGCAGCTCG 0.582 NA HNSCC(69;0.2) 31 164 4.31634e-10 6.56146e-10 0.002445 1 0 DDX11L2 84771 broad.mit.edu 37 2 114357557 114357557 + Nonstop_Mutation SNP A A G rs115341812 by1000genomes TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 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 3 23 0 0 0.004672 0 0 LRP1B 53353 broad.mit.edu 37 2 140992421 140992421 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr2:140992421G>T uc002tvj.1 - 90 14565 c.13593C>A c.(13591-13593)TTC>TTA p.F4531L NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4531 Cytoplasmic (Potential). 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) gtggaagcttgaaagcactgg 0.05 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 16 44 8.34094e-07 1.09889e-06 0.008871 1 0 NEB 4703 broad.mit.edu 37 2 152527689 152527689 + Missense_Mutation SNP T T C TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr2:152527689T>C uc010fnx.2 - 38 4545 c.4354A>G c.(4354-4356)ATT>GTT p.I1452V NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 1452 Nebulin 37. 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) AGGGAACCAATAGGGATCCAT 0.448 NA 13 45 0 0 0.004007 0 0 TBR1 10716 broad.mit.edu 37 2 162274750 162274750 + Missense_Mutation SNP G G A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr2:162274750G>A uc002ubw.1 + 3 1188 c.886G>A c.(886-888)GGG>AGG p.G296R TBR1_uc010foy.2_Missense_Mutation_p.G9R NM_006593 NP_006584 Q16650 TBR1_HUMAN T-box, brain, 1 296 T-box. nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 CCCCAACACTGGGGCTCACTG 0.478 NA 20 77 0 0 0.010504 0 0 KCNH7 90134 broad.mit.edu 37 2 163374483 163374483 + Missense_Mutation SNP T T C TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr2:163374483T>C uc002uch.1 - 4 861 c.649A>G c.(649-651)AAA>GAA p.K217E KCNH7_uc002uci.2_Missense_Mutation_p.K217E NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H, 217 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity ovary(3)|skin(2) 5 Ibutilide(DB00308) ATCAAAGCTTTTGTGTCATCT 0.458 GBM(196;1492 2208 17507 24132 45496) NA 19 142 0 0 0.007413 0 0 SCN3A 6328 broad.mit.edu 37 2 166019136 166019136 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr2:166019136C>A uc002ucx.2 - 8 1389 c.897G>T c.(895-897)ATG>ATT p.M299I SCN3A_uc002ucy.2_Missense_Mutation_p.M299I|SCN3A_uc002ucz.2_Missense_Mutation_p.M299I|SCN3A_uc002uda.1_Missense_Mutation_p.M168I|SCN3A_uc002udb.1_Missense_Mutation_p.M168I NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 299 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) CATTTGAATCCATTGTGCCAT 0.388 NA 7 93 0.00198382 0.00218378 0.001984 1 0 XIRP2 129446 broad.mit.edu 37 2 168102744 168102744 + Silent SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr2:168102744C>A uc002udx.2 + 8 4860 c.4842C>A c.(4840-4842)TCC>TCA p.S1614S XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.S1439S|XIRP2_uc010fpq.2_Silent_p.S1392S|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1439 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 ACCTACTTTCCAAAAGGGACT 0.338 NA 6 57 1.76689e-08 2.5026e-08 0.006214 1 0 TTN 7273 broad.mit.edu 37 2 179397726 179397726 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr2:179397726G>T uc010zfg.1 - 307 96136 c.95912C>A c.(95911-95913)CCT>CAT p.P31971H uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P25666H|TTN_uc010zfi.1_Missense_Mutation_p.P25599H|TTN_uc010zfj.1_Missense_Mutation_p.P25474H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 32898 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TACATCATAAGGCATCCGGAG 0.448 NA 55 275 1.83081e-24 3.48525e-24 0.00361 1 0 TTN 7273 broad.mit.edu 37 2 179412988 179412988 + Missense_Mutation SNP A A T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr2:179412988A>T uc010zfg.1 - 288 85885 c.85661T>A c.(85660-85662)GTT>GAT p.V28554D uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V22249D|TTN_uc010zfi.1_Missense_Mutation_p.V22182D|TTN_uc010zfj.1_Missense_Mutation_p.V22057D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 29481 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGTATCAACAACATCAAGTCT 0.483 NA 10 184 0 0 0.000978 0 0 ITGA4 3676 broad.mit.edu 37 2 182359483 182359483 + Missense_Mutation SNP G G C TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr2:182359483G>C uc002unu.2 + 12 2046 c.1283G>C c.(1282-1284)AGT>ACT p.S428T NM_000885 NP_000876 P13612 ITA4_HUMAN integrin alpha 4 precursor 428 FG-GAP 7.|Extracellular (Potential). blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) AAATCGTTAAGTATGTTTGGA 0.313 NA 30 109 0 0 0.004289 0 0 PDE1A 5136 broad.mit.edu 37 2 183051238 183051238 + Nonsense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr2:183051238C>A uc002uos.2 - 13 1417 c.1333G>T c.(1333-1335)GAG>TAG p.E445* PDE1A_uc010zfp.1_Nonsense_Mutation_p.E341*|PDE1A_uc002uoq.1_Nonsense_Mutation_p.E445*|PDE1A_uc010zfq.1_Nonsense_Mutation_p.E445*|PDE1A_uc002uor.2_Nonsense_Mutation_p.E429*|PDE1A_uc002uou.2_Nonsense_Mutation_p.E411* NM_001003683 NP_001003683 P54750 PDE1A_HUMAN phosphodiesterase 1A isoform 2 445 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(2)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.061) GAGGCTTCCTCTATAAGAGGA 0.348 NA 5 58 8.12818e-05 9.77738e-05 0.001984 1 0 COL3A1 1281 broad.mit.edu 37 2 189868184 189868184 + Silent SNP T T C TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr2:189868184T>C uc002uqj.1 + 37 2718 c.2601T>C c.(2599-2601)GGT>GGC p.G867G NM_000090 NP_000081 P02461 CO3A1_HUMAN collagen type III alpha 1 preproprotein 867 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding central_nervous_system(7)|ovary(4)|large_intestine(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) GCAGTCCTGGTGGACCTGTAA 0.378 NA 6 40 0 0 0.001984 0 0 INO80D 54891 broad.mit.edu 37 2 206869874 206869874 + Missense_Mutation SNP T T A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr2:206869874T>A uc002vaz.3 - 11 2707 c.2302A>T c.(2302-2304)ACT>TCT p.T768S NM_017759 NP_060229 Q53TQ3 IN80D_HUMAN INO80 complex subunit D 768 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1) 1 CTGATCAGAGTGGCAGAAGTA 0.597 NA 6 88 0 0 0.001984 0 0 VWC2L 402117 broad.mit.edu 37 2 215279062 215279062 + Silent SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr2:215279062C>A uc002vet.2 + 2 275 c.145C>A c.(145-147)CGA>AGA p.R49R VWC2L_uc010zjl.1_Silent_p.R49R NM_001080500 NP_001073969 B2RUY7 VWC2L_HUMAN von Willebrand factor C domain-containing 49 extracellular region 0 TGATGACTATCGAGGGAAAGG 0.478 NA 6 29 1.06961e-07 1.45062e-07 0.00308 1 0 CYP27A1 1593 broad.mit.edu 37 2 219674425 219674425 + Silent SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr2:219674425G>T uc002viz.3 + 2 815 c.381G>T c.(379-381)CGG>CGT p.R127R NM_000784 NP_000775 Q02318 CP27A_HUMAN cytochrome P450, family 27, subfamily A, 127 bile acid biosynthetic process|xenobiotic metabolic process mitochondrial matrix cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding ovary(1) 1 Renal(207;0.0474) Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981) Cholecalciferol(DB00169) ACCCAGTACGGAACGACATGG 0.607 NA 13 107 4.93089e-13 8.21815e-13 0.00245 1 0 OTOS 150677 broad.mit.edu 37 2 241078631 241078631 + Silent SNP G G A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr2:241078631G>A uc002vyv.2 - 4 381 c.226C>T c.(226-228)CTG>TTG p.L76L MYEOV2_uc002vyu.1_5'Flank|MYEOV2_uc010zof.1_5'Flank NM_148961 NP_683764 Q8NHW6 OTOSP_HUMAN otospiralin precursor 76 extracellular region 0 all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16) Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141) GTGCTCCCCAGGGGGAAGTGG 0.652 NA 23 80 0 0 0.00333 0 0 NEU4 129807 broad.mit.edu 37 2 242757727 242757727 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr2:242757727C>A uc010fzr.2 + 4 894 c.808C>A c.(808-810)CCC>ACC p.P270T NEU4_uc002wcl.2_RNA|NEU4_uc002wcm.2_Missense_Mutation_p.P270T|NEU4_uc002wcn.1_Missense_Mutation_p.P282T|NEU4_uc002wco.1_Missense_Mutation_p.P270T|NEU4_uc002wcp.1_Missense_Mutation_p.P282T NM_080741 NP_542779 Q8WWR8 NEUR4_HUMAN sialidase 4 270 lysosomal lumen|organelle inner membrane exo-alpha-sialidase activity|protein binding 0 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825) GGCTTCCCTGCCCGAGACTGC 0.706 NA 5 10 3.59834e-05 4.43119e-05 0.001168 1 0 C2orf85 285093 broad.mit.edu 37 2 242814448 242814448 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr2:242814448C>A uc010fzu.1 + 2 764 c.741C>A c.(739-741)TTC>TTA p.F247L NM_173821 NP_776182 Q14D33 CB085_HUMAN hypothetical protein LOC285093 247 integral to membrane ovary(1) 1 GCTCCATCTTCCTGTCTGGGG 0.692 NA 7 38 1.12685e-05 1.42141e-05 0.004482 1 0 SIRPA 140885 broad.mit.edu 37 20 1896081 1896081 + Missense_Mutation SNP G G A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr20:1896081G>A uc002wfq.2 + 3 776 c.416G>A c.(415-417)GGC>GAC p.G139D SIRPA_uc010zps.1_Missense_Mutation_p.G119D|SIRPA_uc002wfr.2_Missense_Mutation_p.G139D|SIRPA_uc002wfs.2_Missense_Mutation_p.G139D|SIRPA_uc002wft.2_Missense_Mutation_p.G139D NM_001040022 NP_001035111 P78324 SHPS1_HUMAN signal-regulatory protein alpha precursor 139 Extracellular (Potential). blood coagulation|cell adhesion|cell junction assembly|leukocyte migration integral to membrane|plasma membrane SH3 domain binding ovary(1) 1 Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556) TCTGGAGCAGGCACTGAGCTG 0.532 GBM(155;1668 1920 5945 42733 48121) NA 23 134 0 0 0.00333 0 0 TGM6 343641 broad.mit.edu 37 20 2411621 2411621 + Missense_Mutation SNP T T A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr20:2411621T>A uc002wfy.1 + 12 1976 c.1915T>A c.(1915-1917)TGT>AGT p.C639S TGM6_uc010gal.1_Intron NM_198994 NP_945345 O95932 TGM3L_HUMAN transglutaminase 6 639 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(3)|skin(1) 4 L-Glutamine(DB00130) AGTGAAGGACTGTGCGCTGAT 0.597 NA 76 165 0 0 0.00361 0 0 CPXM1 56265 broad.mit.edu 37 20 2779518 2779518 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr20:2779518C>A uc002wgu.2 - 2 258 c.194G>T c.(193-195)CGG>CTG p.R65L CPXM1_uc010gas.2_Missense_Mutation_p.R65L NM_019609 NP_062555 Q96SM3 CPXM1_HUMAN carboxypeptidase X, member 1 precursor 65 cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding ovary(2)|skin(2) 4 GACTCGAATCCGGACATGCTG 0.552 NA 76 173 1.50424e-25 2.89009e-25 0.00361 1 0 MACROD2 140733 broad.mit.edu 37 20 16025241 16025241 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr20:16025241G>T uc002wou.2 + 17 1521 c.1257G>T c.(1255-1257)AAG>AAT p.K419N MACROD2_uc002wot.2_Intron|MACROD2_uc002woz.2_Missense_Mutation_p.K184N|MACROD2_uc002wpb.2_Intron|MACROD2_uc002wpd.2_Missense_Mutation_p.K70N NM_080676 NP_542407 A1Z1Q3 MACD2_HUMAN MACRO domain containing 2 isoform 1 419 0 all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175) AGGTTGACAAGGTAAATGACC 0.343 NA 13 35 5.01169e-05 6.13526e-05 0.00499 1 0 KIF16B 55614 broad.mit.edu 37 20 16360585 16360585 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr20:16360585G>T uc002wpg.1 - 19 2220 c.2062C>A c.(2062-2064)CAG>AAG p.Q688K KIF16B_uc002wpe.1_Missense_Mutation_p.Q70K|KIF16B_uc002wpf.1_Missense_Mutation_p.Q70K|KIF16B_uc010gch.1_Missense_Mutation_p.Q688K|KIF16B_uc010gci.1_Missense_Mutation_p.Q688K|KIF16B_uc010gcj.1_Missense_Mutation_p.Q699K NM_024704 NP_078980 Q96L93 KI16B_HUMAN kinesin-like motor protein C20orf23 688 Glu-rich.|Potential. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1) 8 TCGATTTCCTGCTGTTCCCTC 0.488 NA 27 301 8.24728e-16 1.45026e-15 0.004656 1 0 SSTR4 6754 broad.mit.edu 37 20 23016906 23016906 + Silent SNP G G T rs72547257 TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr20:23016906G>T uc002wsr.2 + 1 850 c.786G>T c.(784-786)CTG>CTT p.L262L NM_001052 NP_001043 P31391 SSR4_HUMAN somatostatin receptor 4 262 Helical; Name=6; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity ovary(1) 1 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) GGCTGGTGCTGATGGTCGTGG 0.612 Esophageal Squamous(15;850 1104 16640) NA 44 97 1.56793e-16 2.79266e-16 0.00361 1 0 CDK5RAP1 51654 broad.mit.edu 37 20 31973519 31973519 + Silent SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr20:31973519C>A uc010gek.2 - 7 937 c.813G>T c.(811-813)CGG>CGT p.R271R CDK5RAP1_uc002wyy.2_Silent_p.R181R|CDK5RAP1_uc002wyz.2_Silent_p.R271R|CDK5RAP1_uc002wza.2_Silent_p.R271R|CDK5RAP1_uc010gel.2_Silent_p.R180R|CDK5RAP1_uc010gem.2_Silent_p.R271R|CDK5RAP1_uc002wzc.1_Silent_p.R271R|CDK5RAP1_uc010gen.2_Silent_p.R271R NM_016408 NP_057492 Q96SZ6 CK5P1_HUMAN CDK5 regulatory subunit associated protein 1 271 brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification cytoplasm 4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity ovary(2)|skin(2)|lung(1) 5 TCTCCCTGCCCCGGGTGAAAG 0.493 NA 15 119 3.62473e-10 5.53038e-10 0.001882 1 0 TSHZ2 128553 broad.mit.edu 37 20 51872011 51872011 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr20:51872011C>A uc002xwo.2 + 2 2970 c.2014C>A c.(2014-2016)CCC>ACC p.P672T NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 672 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|haematopoietic_and_lymphoid_tissue(1) 6 STAD - Stomach adenocarcinoma(23;0.1) GCCCCTGGAGCCCACATCTGC 0.612 NA 4 92 0.00024832 0.000288663 0.009096 1 0 ZNF831 128611 broad.mit.edu 37 20 57766620 57766620 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr20:57766620G>T uc002yan.2 + 1 546 c.546G>T c.(544-546)AAG>AAT p.K182N NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 182 C2H2-type 2. intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) TCGCCTTTAAGACCCAGAGCA 0.647 NA 97 166 9.53958e-58 1.90333e-57 0.00361 1 0 ZBTB46 140685 broad.mit.edu 37 20 62421767 62421767 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr20:62421767G>T uc002ygv.1 - 2 545 c.344C>A c.(343-345)ACG>AAG p.T115K ZBTB46_uc002ygu.2_RNA NM_025224 NP_079500 Q86UZ6 ZBT46_HUMAN zinc finger and BTB domain containing 46 115 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding large_intestine(1)|ovary(1) 2 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) CACGATGTCCGTCATCTGCAG 0.597 NA 3 21 6.4e-05 7.74515e-05 0.004672 1 0 ZNF295 49854 broad.mit.edu 37 21 43414063 43414063 + Missense_Mutation SNP A A C TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr21:43414063A>C uc002zab.3 - 3 356 c.142T>G c.(142-144)TTG>GTG p.L48V ZNF295_uc002yzz.3_Missense_Mutation_p.L48V|ZNF295_uc002yzy.3_Missense_Mutation_p.L48V|ZNF295_uc002zaa.3_Missense_Mutation_p.L48V|ZNF295_uc010gov.1_Missense_Mutation_p.L48V|ZNF295_uc002zac.2_Missense_Mutation_p.L48V NM_001098402 NP_001091872 Q9ULJ3 ZN295_HUMAN zinc finger protein 295 isoform L 48 Mediates homodimerization.|BTB. negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|nucleus methyl-CpG binding|protein binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 CTGGCAGCCAAGACGTTTTTA 0.438 NA 13 97 0 0 0.00245 0 0 CECR2 27443 broad.mit.edu 37 22 18020342 18020342 + Silent SNP C C T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr22:18020342C>T uc010gqw.1 + 13 1797 c.1671C>T c.(1669-1671)CCC>CCT p.P557P CECR2_uc010gqv.1_Silent_p.P416P|CECR2_uc002zml.2_Silent_p.P416P NM_031413 NP_113601 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 599 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding ovary(1)|skin(1) 2 all_epithelial(15;0.139) Lung(27;0.146) CGTTGCCCCCCACACGCCGAG 0.637 NA 5 57 0 0 0.004482 0 0 HIRA 7290 broad.mit.edu 37 22 19365417 19365417 + Missense_Mutation SNP C C G TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr22:19365417C>G uc002zpf.1 - 14 1808 c.1588G>C c.(1588-1590)GCA>CCA p.A530P HIRA_uc011agx.1_Missense_Mutation_p.A396P|HIRA_uc010grn.1_Missense_Mutation_p.A530P|HIRA_uc010gro.1_Missense_Mutation_p.A486P|HIRA_uc010grp.2_RNA NM_003325 NP_003316 P54198 HIRA_HUMAN HIR histone cell cycle regulation defective 530 Interaction with CCNA1. chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1) 1 Colorectal(54;0.0993) GAATCGCCTGCAGGTCTGGCA 0.542 NA 7 136 0 0 0.001368 0 0 MYO18B 84700 broad.mit.edu 37 22 26165096 26165096 + Missense_Mutation SNP G G C TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr22:26165096G>C uc003abz.1 + 4 1463 c.1213G>C c.(1213-1215)GCA>CCA p.A405P MYO18B_uc003aca.1_Missense_Mutation_p.A286P|MYO18B_uc010guy.1_Missense_Mutation_p.A286P|MYO18B_uc010guz.1_Missense_Mutation_p.A286P|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 405 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 GTCCGGGAACGCAGGTGAAGC 0.607 NA 3 37 0 0 0.004672 0 0 HPS4 89781 broad.mit.edu 37 22 26868863 26868863 + Missense_Mutation SNP G G A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr22:26868863G>A uc003acl.2 - 5 978 c.319C>T c.(319-321)CGG>TGG p.R107W HPS4_uc003aci.2_Missense_Mutation_p.R102W|HPS4_uc003acj.2_5'UTR|HPS4_uc003ack.2_5'UTR|HPS4_uc003acn.2_5'UTR|HPS4_uc010gvd.1_Missense_Mutation_p.R107W|HPS4_uc003ach.2_5'Flank NM_022081 NP_071364 Q9NQG7 HPS4_HUMAN light ear protein isoform a 107 lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting lysosome|melanosome|membrane fraction|platelet dense granule protein homodimerization activity 0 TCCAGAAACCGCTTGCAGCTG 0.418 NA Hermansky-Pudlak_syndrome 10 155 0 0 0.006214 0 0 MYH9 4627 broad.mit.edu 37 22 36708162 36708162 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr22:36708162G>T uc003apg.2 - 14 1891 c.1660C>A c.(1660-1662)CCC>ACC p.P554T MYH9_uc003aph.1_Missense_Mutation_p.P418T NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 554 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 TGGAACTTGGGGTGGGTGCCC 0.612 NA T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated 10 128 0.000442599 0.000501854 0.006214 1 0 TTLL1 25809 broad.mit.edu 37 22 43460246 43460246 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr22:43460246G>T uc003bdi.2 - 6 829 c.588C>A c.(586-588)GAC>GAA p.D196E TTLL1_uc010gzh.2_Missense_Mutation_p.D196E|TTLL1_uc003bdj.2_Missense_Mutation_p.D82E|TTLL1_uc003bdh.2_Missense_Mutation_p.D158E NM_012263 NP_036395 O95922 TTLL1_HUMAN tubulin tyrosine ligase-like family, member 1 196 TTL. protein polyglutamylation cytoplasm|microtubule ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity skin(1) 1 Ovarian(80;0.0694) BRCA - Breast invasive adenocarcinoma(115;0.00461) ACAAGCGCAGGTCGAACTTCC 0.463 NA 7 84 0.000274275 0.000316178 0.004482 1 0 IL5RA 3568 broad.mit.edu 37 3 3136995 3136995 + Silent SNP A A G TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr3:3136995A>G uc011ask.1 - 9 1487 c.843T>C c.(841-843)AAT>AAC p.N281N IL5RA_uc010hbq.2_Intron|IL5RA_uc010hbr.2_Intron|IL5RA_uc010hbs.2_Silent_p.N281N|IL5RA_uc011asl.1_Silent_p.N281N|IL5RA_uc011asm.1_Silent_p.N281N|IL5RA_uc010hbt.2_Silent_p.N281N|IL5RA_uc011asn.1_Silent_p.N281N|IL5RA_uc010hbu.2_Silent_p.N281N|IL5RA_uc010hbp.2_5'Flank NM_000564 NP_000555 Q01344 IL5RA_HUMAN interleukin 5 receptor, alpha isoform 1 281 Extracellular (Potential). cell proliferation extracellular space|integral to membrane|plasma membrane interleukin-5 receptor activity ovary(1) 1 Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944) GCAAATATCCATTCCTTGTAT 0.323 GBM(169;430 2801 24955 28528) NA 8 41 0 0 0.001855 0 0 LMCD1 29995 broad.mit.edu 37 3 8590464 8590464 + Missense_Mutation SNP G G A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr3:8590464G>A uc003bqq.2 + 4 712 c.598G>A c.(598-600)GCC>ACC p.A200T LMCD1_uc011atd.1_Missense_Mutation_p.A127T|LMCD1_uc011ate.1_Missense_Mutation_p.A88T|LMCD1_uc011atf.1_Missense_Mutation_p.A127T NM_014583 NP_055398 Q9NZU5 LMCD1_HUMAN LIM and cysteine-rich domains 1 200 PET. positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent cytoplasm|extracellular space|nucleus transcription corepressor activity|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(96;0.124) GGGAGAAGTGGCCCTCCCGGG 0.592 NA 23 127 0 0 0.004656 0 0 OGG1 4968 broad.mit.edu 37 3 9792684 9792684 + Missense_Mutation SNP A A G TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr3:9792684A>G uc003bsi.2 + 2 536 c.193A>G c.(193-195)ACA>GCA p.T65A OGG1_uc003bsh.2_Missense_Mutation_p.T65A|OGG1_uc003bsj.2_Missense_Mutation_p.T65A|OGG1_uc003bsk.2_Missense_Mutation_p.T65A|OGG1_uc003bsl.2_Missense_Mutation_p.T65A|OGG1_uc003bsm.2_Missense_Mutation_p.T65A|OGG1_uc003bsn.2_Missense_Mutation_p.T65A|OGG1_uc003bso.2_Missense_Mutation_p.T65A|OGG1_uc003bsp.1_5'Flank|OGG1_uc010hcm.1_5'Flank|OGG1_uc003bsq.1_5'Flank|OGG1_uc003bsr.1_5'Flank NM_002542 NP_002533 O15527 OGG1_HUMAN 8-oxoguanine DNA-glycosylase 1 isoform 1a 65 depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation mitochondrion|nuclear matrix|nuclear speck damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding 0 Medulloblastoma(99;0.227) TCAAGTATGGACACTGACTCA 0.572 NA BER_DNA_glycosylases 4 38 0 0 0.000602 0 0 ATP2B2 491 broad.mit.edu 37 3 10381973 10381973 + Missense_Mutation SNP A A T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr3:10381973A>T uc003bvt.2 - 21 3629 c.3190T>A c.(3190-3192)TGG>AGG p.W1064R ATP2B2_uc003bvv.2_Missense_Mutation_p.W1019R|ATP2B2_uc003bvw.2_Missense_Mutation_p.W1019R|ATP2B2_uc010hdo.2_Missense_Mutation_p.W769R NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN plasma membrane calcium ATPase 2 isoform 1 1064 Helical; (Potential). ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding ovary(3)|skin(2)|central_nervous_system(1) 6 CACCACATCCACTGGTCCAGC 0.557 Ovarian(125;1619 1709 15675 19819 38835) NA 19 78 0 0 0.002299 0 0 SGOL1 151648 broad.mit.edu 37 3 20216127 20216127 + Missense_Mutation SNP T T C TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr3:20216127T>C uc003cbs.2 - 6 1083 c.896A>G c.(895-897)AAC>AGC p.N299S SGOL1_uc003cbr.2_Intron|SGOL1_uc010hfa.2_Intron|SGOL1_uc003cbt.2_Intron|SGOL1_uc003cbu.2_Missense_Mutation_p.N299S|SGOL1_uc003cbv.2_Intron|SGOL1_uc003cbw.2_Intron|SGOL1_uc003cbx.2_Intron|SGOL1_uc003cby.2_Intron|SGOL1_uc003cbz.2_Missense_Mutation_p.N299S|SGOL1_uc003cca.2_Missense_Mutation_p.N299S|SGOL1_uc003ccb.2_Intron|SGOL1_uc003ccc.2_Intron NM_001012410 NP_001012410 Q5FBB7 SGOL1_HUMAN shugoshin-like 1 isoform A2 299 Potential. attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole protein binding 0 ttttctcctgttagcttttct 0.129 NA 6 55 0 0 0.001984 0 0 DCLK3 85443 broad.mit.edu 37 3 36779774 36779774 + Missense_Mutation SNP C C T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr3:36779774C>T uc003cgi.2 - 2 868 c.377G>A c.(376-378)GGG>GAG p.G126E NM_033403 NP_208382 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 126 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1) 9 AATCTCCACCCCAAGATGCTT 0.567 NA 32 266 0 0 0.002836 0 0 TDGF1 6997 broad.mit.edu 37 3 46621261 46621261 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr3:46621261G>T uc003cpv.2 + 4 536 c.256G>T c.(256-258)GGG>TGG p.G86W LRRC2_uc003cpu.3_Intron NM_003212 NP_003203 P13385 TDGF1_HUMAN teratocarcinoma-derived growth factor 1 86 EGF-like. activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation anchored to membrane|cell surface|extrinsic to plasma membrane growth factor activity 0 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204) CTGCCTGAATGGGGGAACCTG 0.527 NA 27 203 5.77227e-19 1.05528e-18 0.008361 1 0 WDR6 11180 broad.mit.edu 37 3 49052329 49052329 + Missense_Mutation SNP C C T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr3:49052329C>T uc003cvj.2 + 6 3202 c.3064C>T c.(3064-3066)CGT>TGT p.R1022C WDR6_uc011bby.1_Missense_Mutation_p.R470C|WDR6_uc010hkn.2_Missense_Mutation_p.R966C|WDR6_uc011bbz.1_Missense_Mutation_p.R941C NM_018031 NP_060501 Q9NNW5 WDR6_HUMAN WD repeat domain 6 protein 992 WD 15. cell cycle arrest|negative regulation of cell proliferation cytoplasm central_nervous_system(1) 1 Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155) CTTGCCCACCCGTGAGGGCCA 0.587 NA 10 67 0 0 0.001368 0 0 LRTM1 57408 broad.mit.edu 37 3 54961995 54961995 + Translation_Start_Site SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr3:54961995G>T uc003dhl.2 - 1 78 c.-56C>A c.(-58--54)CTCTG>CTATG CACNA2D3_uc003dhf.2_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron NM_020678 NP_065729 Q9HBL6 LRTM1_HUMAN leucine-rich repeats and transmembrane domains 1 integral to membrane 0 KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502) TTAATGTGCAGAGCAACACAC 0.478 NA 7 144 4.84862e-15 8.41914e-15 0.000978 1 0 CADPS 8618 broad.mit.edu 37 3 62478119 62478119 + Silent SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr3:62478119G>T uc003dll.2 - 20 3090 c.2730C>A c.(2728-2730)GCC>GCA p.A910A CADPS_uc003dlk.1_Silent_p.A407A|CADPS_uc003dlm.2_Silent_p.A920A|CADPS_uc003dln.2_Silent_p.A880A NM_003716 NP_003707 Q9ULU8 CAPS1_HUMAN Ca2+-dependent secretion activator isoform 1 910 Interaction with DRD2. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding central_nervous_system(2)|ovary(1) 3 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) ACCACGCAAAGGCCTTTAAAA 0.448 NA 21 504 1.10513e-12 1.81996e-12 0.002299 1 0 SLC25A26 115286 broad.mit.edu 37 3 66413339 66413339 + Missense_Mutation SNP G G A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr3:66413339G>A uc011bfq.1 + 8 1282 c.554G>A c.(553-555)TGT>TAT p.C185Y SLC25A26_uc011bfs.1_Missense_Mutation_p.C97Y|SLC25A26_uc011bft.1_RNA|SLC25A26_uc011bfr.1_Missense_Mutation_p.C185Y|SLC25A26_uc003dmt.2_Missense_Mutation_p.C97Y NM_173471 NP_775742 Q70HW3 SAMC_HUMAN solute carrier family 25, member 26 isoform a 185 Helical; Name=5; (Potential).|Solcar 3. integral to membrane|mitochondrial inner membrane|nucleus S-adenosylmethionine transmembrane transporter activity pancreas(1) 1 Lung NSC(201;0.00774) BRCA - Breast invasive adenocarcinoma(55;0.00046)|KIRC - Kidney renal clear cell carcinoma(15;0.0515)|Kidney(15;0.0648) TCAGCAGTCTGTGGAGCTTTT 0.383 NA 5 17 0 0 0.000602 0 0 CNTN3 5067 broad.mit.edu 37 3 74315728 74315728 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr3:74315728G>T uc003dpm.1 - 21 2970 c.2890C>A c.(2890-2892)CTG>ATG p.L964M NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 964 Fibronectin type-III 4. cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) TTAATGGGCAGCACAAGTTCA 0.393 NA 20 189 1.28384e-07 1.72425e-07 0.001882 1 0 PROS1 5627 broad.mit.edu 37 3 93605343 93605343 + Missense_Mutation SNP G G A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr3:93605343G>A uc003drb.3 - 11 1501 c.1160C>T c.(1159-1161)TCT>TTT p.S387F PROS1_uc010hoo.2_Missense_Mutation_p.S256F|PROS1_uc003dqz.3_Missense_Mutation_p.S256F NM_000313 NP_000304 P07225 PROS_HUMAN protein S, alpha preproprotein 387 Laminin G-like 1. leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity large_intestine(1) 1 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) TTCTTCCACAGACACCTACAA 0.294 NA 30 147 0 0 0.009535 0 0 CCDC80 151887 broad.mit.edu 37 3 112357838 112357838 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr3:112357838G>T uc003dzf.2 - 2 1133 c.915C>A c.(913-915)AGC>AGA p.S305R CCDC80_uc011bhv.1_Missense_Mutation_p.S305R|CCDC80_uc003dzg.2_Missense_Mutation_p.S305R|CCDC80_uc003dzh.1_Missense_Mutation_p.S305R NM_199512 NP_955806 Q76M96 CCD80_HUMAN steroid-sensitive protein 1 precursor 305 ovary(2) 2 CGCTGCCCAGGCTTGGCCTTC 0.597 NA 27 105 7.07758e-08 9.72581e-08 0.004656 1 0 DRD3 1814 broad.mit.edu 37 3 113890615 113890615 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr3:113890615G>T uc003ebd.2 - 3 648 c.225C>A c.(223-225)GAC>GAA p.D75E DRD3_uc010hqn.1_Missense_Mutation_p.D75E|DRD3_uc003ebb.1_Missense_Mutation_p.D75E|DRD3_uc003ebc.1_Missense_Mutation_p.D75E NM_000796 NP_000787 P35462 DRD3_HUMAN dopamine receptor D3 isoform a 75 Helical; Name=2. activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) CCACCAGCAAGTCTGCCACAG 0.557 NA 11 105 2.61681e-11 4.17684e-11 0.00245 1 0 ZNF80 7634 broad.mit.edu 37 3 113955452 113955452 + Missense_Mutation SNP C C T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr3:113955452C>T uc010hqo.2 - 1 974 c.470G>A c.(469-471)GGA>GAA p.G157E ZNF80_uc003ebf.2_RNA NM_007136 NP_009067 P51504 ZNF80_HUMAN zinc finger protein 80 157 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Lung NSC(201;0.0233)|all_neural(597;0.0837) GAGTTTTTCTCCAGTGTGGGT 0.483 GBM(23;986 1114 21716) NA 11 119 0 0 0.001368 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119133448 119133448 + Missense_Mutation SNP A A T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr3:119133448A>T uc003ecj.3 + 12 3204 c.2672A>T c.(2671-2673)GAT>GTT p.D891V NM_020754 NP_065805 Q2M1Z3 RHG31_HUMAN Cdc42 GTPase-activating protein 891 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity ovary(2) 2 TGTGACGAAGATGACACTGTG 0.557 Pancreas(7;176 297 5394 51128 51241) NA 26 124 0 0 0.004656 0 0 MED12L 116931 broad.mit.edu 37 3 150881712 150881712 + Silent SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr3:150881712G>T uc003eyp.2 + 8 1178 c.1140G>T c.(1138-1140)GTG>GTT p.V380V MED12L_uc011bnz.1_Intron|MED12L_uc003eyn.2_Silent_p.V380V|MED12L_uc003eyo.2_Silent_p.V380V NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 380 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GTGCCTTGGTGTGGAATTATT 0.493 NA 9 107 0.000442599 0.000501854 0.006214 1 0 PLCH1 23007 broad.mit.edu 37 3 155200774 155200774 + Missense_Mutation SNP T T A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr3:155200774T>A uc011bok.1 - 23 3342 c.3065A>T c.(3064-3066)AAC>ATC p.N1022I PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Missense_Mutation_p.N984I NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 1022 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity skin(3)|ovary(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TAACTTTTTGTTGAAATTTAG 0.408 NA 9 119 0 0 0.004482 0 0 ATP13A4 84239 broad.mit.edu 37 3 193132540 193132540 + Splice_Site SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr3:193132540C>A uc003ftd.2 - 26 2951 c.2843_splice c.e26-1 p.M948_splice ATP13A4_uc010hzi.2_Splice_Site NM_032279 NP_115655 Q4VNC1 AT134_HUMAN ATPase type 13A4 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(2) 2 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) TTCAGATTCACTATAAAATAA 0.303 NA 9 76 9.70103e-10 1.46397e-09 0.008291 1 0 CPN2 1370 broad.mit.edu 37 3 194062704 194062704 + Missense_Mutation SNP A A T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr3:194062704A>T uc003fts.2 - 2 818 c.728T>A c.(727-729)CTA>CAA p.L243Q NM_001080513 NP_001073982 P22792 CPN2_HUMAN carboxypeptidase N, polypeptide 2 243 LRR 7. protein stabilization extracellular region enzyme regulator activity ovary(5) 5 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) CAGCCTCTCTAGGCAGAAGAG 0.582 NA 5 42 0 0 0.001368 0 0 USP46 64854 broad.mit.edu 37 4 53468216 53468216 + Missense_Mutation SNP T T A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr4:53468216T>A uc003gzn.2 - 7 912 c.727A>T c.(727-729)AGG>TGG p.R243W USP46_uc003gzm.3_Missense_Mutation_p.R236W|USP46_uc011bzr.1_Missense_Mutation_p.R220W|USP46_uc011bzs.1_Missense_Mutation_p.R127W NM_022832 NP_073743 P62068 UBP46_HUMAN ubiquitin specific peptidase 46 isoform 1 243 behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(1) 1 LUSC - Lung squamous cell carcinoma(32;0.0295) TTTTTTACCCTCATCCTAAGA 0.448 NA 10 82 0 0 0.006214 0 0 KDR 3791 broad.mit.edu 37 4 55968660 55968660 + Missense_Mutation SNP G G A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr4:55968660G>A uc003has.2 - 14 2305 c.2003C>T c.(2002-2004)ACG>ATG p.T668M KDR_uc003hat.1_Missense_Mutation_p.T668M NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 668 Ig-like C2-type 7.|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) TCCTGTGATCGTGGGTGCCAC 0.428 NA Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) 7 91 0 0 0.004482 0 0 UGT2B4 7363 broad.mit.edu 37 4 70361472 70361472 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr4:70361472C>A uc003hek.3 - 1 155 c.108G>T c.(106-108)TGG>TGT p.W36C UGT2B4_uc011cap.1_Intron|UGT2B4_uc003hel.3_Missense_Mutation_p.W36C NM_021139 NP_066962 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2B4 precursor 36 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(2) 2 TTATATTCATCCAGTGGCTGA 0.468 NA 13 189 0.000151284 0.00017938 0.001855 1 0 LIN54 132660 broad.mit.edu 37 4 83905676 83905676 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr4:83905676C>A uc003hnx.3 - 2 700 c.322G>T c.(322-324)GTG>TTG p.V108L LIN54_uc003hnz.3_Intron|LIN54_uc003hny.3_Intron|LIN54_uc010ijt.2_Missense_Mutation_p.V108L|LIN54_uc010iju.2_5'UTR|LIN54_uc010ijv.2_Intron NM_194282 NP_919258 Q6MZP7 LIN54_HUMAN lin-54 homolog isoform a 108 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 Hepatocellular(203;0.114) GATATAGTCACAGGAGTCTGA 0.383 NA 14 182 3.27435e-08 4.57527e-08 0.00245 1 0 DSPP 1834 broad.mit.edu 37 4 88535090 88535090 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr4:88535090C>A uc003hqu.2 + 5 1396 c.1276C>A c.(1276-1278)CCT>ACT p.P426T NM_014208 NP_055023 Q9NZW4 DSPP_HUMAN dentin sialophosphoprotein preproprotein 426 biomineral tissue development|ossification|skeletal system development proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent central_nervous_system(1) 1 Hepatocellular(203;0.114)|all_hematologic(202;0.236) OV - Ovarian serous cystadenocarcinoma(123;0.000508) CATAGAAGGACCTGGCCAAAA 0.413 NA 21 72 8.10497e-08 1.11009e-07 0.010504 1 0 HERC6 55008 broad.mit.edu 37 4 89363544 89363544 + Missense_Mutation SNP G G A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr4:89363544G>A uc011cdi.1 + 23 3184 c.3001G>A c.(3001-3003)GAG>AAG p.E1001K HERC6_uc011cdj.1_Missense_Mutation_p.E965K|HERC6_uc011cdk.1_RNA|HERC6_uc011cdl.1_RNA NM_017912 NP_060382 Q8IVU3 HERC6_HUMAN hect domain and RLD 6 isoform 1 1001 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytosol ubiquitin-protein ligase activity lung(3)|ovary(1)|kidney(1) 5 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000222) GGAAAGAATGGAGGAAGCACT 0.428 NA 4 27 0 0 0.000602 0 0 C4orf37 285555 broad.mit.edu 37 4 98893504 98893504 + Missense_Mutation SNP C C G TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr4:98893504C>G uc003htt.1 - 7 950 c.860G>C c.(859-861)GGT>GCT p.G287A NM_174952 NP_777612 Q8N412 CD037_HUMAN hypothetical protein LOC285555 287 0 OV - Ovarian serous cystadenocarcinoma(123;2.27e-08) AACAGAAGAACCAAATGCACT 0.348 NA 7 45 0 0 0.001984 0 0 AIMP1 9255 broad.mit.edu 37 4 107249400 107249400 + Missense_Mutation SNP G G C TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr4:107249400G>C uc011cfg.1 + 4 443 c.391G>C c.(391-393)GGA>CGA p.G131R AIMP1_uc003hyg.2_Missense_Mutation_p.G131R|AIMP1_uc003hyh.2_Missense_Mutation_p.G155R NM_001142415 NP_001135887 Q12904 AIMP1_HUMAN small inducible cytokine subfamily E, member 1 131 Interaction with HSP90B1 (By similarity).|Required for endothelial cell migration. angiogenesis|apoptosis|cell adhesion|cell-cell signaling|chemotaxis|glucose metabolic process|inflammatory response|leukocyte migration|negative regulation of endothelial cell proliferation|signal transduction|tRNA aminoacylation for protein translation aminoacyl-tRNA synthetase multienzyme complex|cytosol|endoplasmic reticulum|extracellular space|Golgi apparatus|nucleus|transport vesicle cell surface binding|cytokine activity|protein homodimerization activity|tRNA binding 0 TGAAAAGAAAGGTATTTTTGA 0.318 NA 4 18 0 0 0.009096 0 0 C4orf21 55345 broad.mit.edu 37 4 113540185 113540185 + Missense_Mutation SNP A A T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr4:113540185A>T uc003iau.2 - 6 1224 c.1013T>A c.(1012-1014)ATA>AAA p.I338K C4orf21_uc003iaw.2_Missense_Mutation_p.I338K NM_018392 NP_060862 Q6ZU11 YD002_HUMAN prematurely terminated mRNA decay factor-like Error:Variant_position_missing_in_Q6ZU11_after_alignment integral to membrane zinc ion binding 0 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) AGAAGAATGTATAGGTGAACT 0.358 NA 12 121 0 0 0.001368 0 0 ANK2 287 broad.mit.edu 37 4 114278877 114278877 + Missense_Mutation SNP A A G TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr4:114278877A>G uc003ibe.3 + 38 9203 c.9103A>G c.(9103-9105)ATC>GTC p.I3035V ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.I337V|ANK2_uc011cgb.1_Missense_Mutation_p.I3050V NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 3002 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CAAAGTCATCATCACAAAAAC 0.413 NA 24 159 0 0 0.00278 0 0 ANK2 287 broad.mit.edu 37 4 114279344 114279344 + Silent SNP A A T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr4:114279344A>T uc003ibe.3 + 38 9670 c.9570A>T c.(9568-9570)GTA>GTT p.V3190V ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Silent_p.V492V|ANK2_uc011cgb.1_Silent_p.V3205V NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 3157 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GTGAGGAAGTAGAGGAAATAC 0.458 NA 8 60 0 0 0.006214 0 0 FAT4 79633 broad.mit.edu 37 4 126411519 126411519 + Silent SNP C C A rs138057366 byFrequency TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr4:126411519C>A uc003ifj.3 + 17 13542 c.13542C>A c.(13540-13542)ACC>ACA p.T4514T FAT4_uc011cgp.1_Silent_p.T2755T|FAT4_uc003ifi.1_Silent_p.T1991T NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 4514 Helical; (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GCTGCGCAACCGTCTTGGCCC 0.567 NA 20 99 2.37509e-13 4.00676e-13 0.010504 1 0 GALNTL6 442117 broad.mit.edu 37 4 173269702 173269702 + Silent SNP C C T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr4:173269702C>T uc003isv.2 + 5 1151 c.415C>T c.(415-417)CTG>TTG p.L139L NM_001034845 NP_001030017 Q49A17 GLTL6_HUMAN N-acetylgalactosaminyltransferase-like 6 139 Catalytic subdomain A.|Lumenal (Potential). Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|ovary(1)|skin(1) 4 TCTGGAAAGGCTGCCAAACAC 0.398 NA 20 106 0 0 0.004656 0 0 FASTKD3 79072 broad.mit.edu 37 5 7866922 7866922 + Silent SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr5:7866922G>T uc003jeb.2 - 2 1412 c.1275C>A c.(1273-1275)GCC>GCA p.A425A FASTKD3_uc011cmp.1_Silent_p.A127A|FASTKD3_uc003jec.2_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jee.3_5'Flank|MTRR_uc003jed.2_5'Flank|MTRR_uc003jef.3_5'Flank|MTRR_uc003jeg.3_5'Flank|MTRR_uc010ito.2_5'Flank NM_024091 NP_076996 Q14CZ7 FAKD3_HUMAN FAST kinase domains 3 425 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity ovary(2)|breast(1)|pancreas(1) 4 ATAAAGCAGAGGCATTTGGTG 0.348 NA 11 139 3.07112e-06 3.97045e-06 0.000978 1 0 PRDM9 56979 broad.mit.edu 37 5 23527621 23527621 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr5:23527621G>T uc003jgo.2 + 11 2606 c.2424G>T c.(2422-2424)GAG>GAT p.E808D NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 808 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 TCTGCAGGGAGTGTGGGCGGG 0.577 NA HNSCC(3;0.000094) 11 261 1.08611e-07 1.46819e-07 0.000978 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33662100 33662100 + Missense_Mutation SNP A A T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr5:33662100A>T uc003jia.1 - 6 1124 c.961T>A c.(961-963)TTC>ATC p.F321I ADAMTS12_uc010iuq.1_Missense_Mutation_p.F321I NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 321 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 CACTTGCAGAAGCTAGACAGT 0.483 NA HNSCC(64;0.19) 53 76 0 0 0.00361 0 0 UTP15 84135 broad.mit.edu 37 5 72863231 72863231 + Missense_Mutation SNP A A T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr5:72863231A>T uc003kcw.1 + 2 285 c.62A>T c.(61-63)CAA>CTA p.Q21L UTP15_uc011cso.1_Missense_Mutation_p.Q21L|UTP15_uc011csp.1_Intron|UTP15_uc010ize.1_Missense_Mutation_p.Q21L|ANKRA2_uc003kcu.1_5'Flank|ANKRA2_uc003kcv.2_5'Flank NM_032175 NP_115551 Q8TED0 UTP15_HUMAN UTP15, U3 small nucleolar ribonucleoprotein, 21 rRNA processing cytoplasm|nucleolus 0 Lung NSC(167;0.00405)|Ovarian(174;0.0129) OV - Ovarian serous cystadenocarcinoma(47;7.76e-55) AAAATCACCCAAGATACACTG 0.378 NA 20 77 0 0 0.008871 0 0 CRHBP 1393 broad.mit.edu 37 5 76249973 76249973 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr5:76249973C>A uc003ker.2 + 3 575 c.295C>A c.(295-297)CAG>AAG p.Q99K CRHBP_uc010izx.2_Missense_Mutation_p.Q99K NM_001882 NP_001873 P24387 CRHBP_HUMAN corticotropin releasing hormone binding protein 99 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) CCACTACGACCAGGTCTCCAT 0.657 NA 6 80 0.00198382 0.00218378 0.001984 1 0 CMYA5 202333 broad.mit.edu 37 5 79026350 79026350 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr5:79026350G>T uc003kgc.2 + 2 1834 c.1762G>T c.(1762-1764)GTT>TTT p.V588F NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 588 Glu-rich. perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) AATTGCATCTGTTTCTACTGG 0.423 NA 64 360 4.60868e-44 9.15121e-44 0.00361 1 0 PCSK1 5122 broad.mit.edu 37 5 95761538 95761538 + Nonsense_Mutation SNP G G A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr5:95761538G>A uc003kls.1 - 3 588 c.382C>T c.(382-384)CAG>TAG p.Q128* NM_000439 NP_000430 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 128 Catalytic. cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity ovary(2) 2 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TACCATTGCTGATTCCACATG 0.408 NA 7 41 0 0 0.00308 0 0 TSLP 85480 broad.mit.edu 37 5 110407675 110407675 + Nonsense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr5:110407675C>A uc003kpb.2 + 1 286 c.87C>A c.(85-87)TAC>TAA p.Y29* TSLP_uc003kpa.2_RNA|TSLP_uc010jbt.1_5'Flank NM_033035 NP_149024 Q969D9 TSLP_HUMAN thymic stromal lymphopoietin isoform 1 29 extracellular space cytokine activity 0 all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109) TGTTAACTTACGACTTCACTA 0.383 NA 21 161 1.96292e-10 3.05098e-10 0.010504 1 0 AFF4 27125 broad.mit.edu 37 5 132232314 132232314 + Missense_Mutation SNP C C T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr5:132232314C>T uc003kyd.2 - 11 2416 c.2008G>A c.(2008-2010)GAG>AAG p.E670K AFF4_uc011cxk.1_Missense_Mutation_p.E348K|AFF4_uc003kye.1_Missense_Mutation_p.E670K NM_014423 NP_055238 Q9UHB7 AFF4_HUMAN ALL1 fused gene from 5q31 670 transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|kidney(2)|skin(1) 5 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTATTGCTCTCGGGGTACTTA 0.443 Ovarian(126;889 1733 2942 10745 11605) NA 12 105 0 0 0.001855 0 0 TCERG1 10915 broad.mit.edu 37 5 145838723 145838723 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr5:145838723G>T uc003lob.2 + 4 755 c.715G>T c.(715-717)GCC>TCC p.A239S TCERG1_uc003loc.2_Missense_Mutation_p.A239S|TCERG1_uc011dbt.1_Missense_Mutation_p.A239S NM_006706 NP_006697 O14776 TCRG1_HUMAN transcription elongation regulator 1 isoform 1 239 Potential.|Ala/Gln-rich. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity ovary(1)|skin(1) 2 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) tcaggcccaggcccaggctca 0.194 NA 12 41 5.16669e-11 8.15276e-11 0.000978 1 0 SLIT3 6586 broad.mit.edu 37 5 168180932 168180932 + Missense_Mutation SNP G G A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr5:168180932G>A uc003mab.2 - 17 2186 c.1766C>T c.(1765-1767)ACA>ATA p.T589I SLIT3_uc010jjg.2_Missense_Mutation_p.T589I NM_003062 NP_003053 O75094 SLIT3_HUMAN slit homolog 3 precursor 589 LRR 14. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTGGTTCCCTGTCAGCATCAG 0.572 Ovarian(29;311 847 10864 17279 24903) NA 11 34 0 0 0.000978 0 0 FOXI1 2299 broad.mit.edu 37 5 169533452 169533452 + Missense_Mutation SNP A A T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr5:169533452A>T uc003mai.3 + 1 536 c.491A>T c.(490-492)AAG>ATG p.K164M FOXI1_uc003maj.3_Missense_Mutation_p.K164M NM_012188 NP_036320 Q12951 FOXI1_HUMAN forkhead box I1 isoform a 164 Fork-head. epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity 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|transcription regulatory region DNA binding breast(3)|central_nervous_system(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AACAAGAGCAAGGCCGGCTGG 0.607 NA Pendred_syndrome 6 24 0 0 0.00308 0 0 NSD1 64324 broad.mit.edu 37 5 176721186 176721186 + Missense_Mutation SNP T T G TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr5:176721186T>G uc003mfr.3 + 23 6955 c.6817T>G c.(6817-6819)TGT>GGT p.C2273G NSD1_uc003mft.3_Missense_Mutation_p.C2004G|NSD1_uc011dfx.1_Missense_Mutation_p.C1921G NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 2273 Pro-rich. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding ovary(2)|kidney(1) 3 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) GGCAGGGACTTGTCAGAGGCC 0.522 NA T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) 28 213 0 0 0.002445 0 0 HDGFL1 154150 broad.mit.edu 37 6 22569972 22569972 + Silent SNP G G C TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr6:22569972G>C uc003nds.2 + 1 295 c.168G>C c.(166-168)CTG>CTC p.L56L NM_138574 NP_612641 Q5TGJ6 HDGL1_HUMAN hepatoma derived growth factor-like 1 56 PWWP. 0 Ovarian(93;0.163) CCAAACGCCTGTTCCCGTACA 0.617 NA 8 58 0 0 0.006214 0 0 SLC17A1 6568 broad.mit.edu 37 6 25799037 25799037 + Silent SNP T T C TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr6:25799037T>C uc003nfh.3 - 12 1496 c.1380A>G c.(1378-1380)AAA>AAG p.K460K SLC17A1_uc011djy.1_RNA|SLC17A1_uc010jqb.1_Silent_p.K458K|SLC17A1_uc010jqc.1_Silent_p.K404K NM_005074 NP_005065 Q14916 NPT1_HUMAN solute carrier family 17 (sodium phosphate), 460 sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity ovary(3)|pancreas(1) 4 GTTGTTTTTCTTTAGCCCAGT 0.423 NA 15 109 0 0 0.004007 0 0 NKAPL 222698 broad.mit.edu 37 6 28227314 28227314 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr6:28227314G>T uc003nkt.2 + 1 217 c.165G>T c.(163-165)TGG>TGT p.W55C ZKSCAN4_uc011dlb.1_5'Flank NM_001007531 NP_001007532 Q5M9Q1 NKAPL_HUMAN NFKB activating protein-like 55 upper_aerodigestive_tract(1)|ovary(1) 2 GGCCTCCTTGGAGTGAGTTGG 0.652 NA 16 117 1.56452e-12 2.56631e-12 0.007413 1 0 ZNF323 64288 broad.mit.edu 37 6 28294239 28294239 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr6:28294239C>A uc003nla.2 - 4 1325 c.925G>T c.(925-927)GGC>TGC p.G309C ZNF323_uc003nld.2_Missense_Mutation_p.G309C|ZNF323_uc010jra.2_Missense_Mutation_p.G309C|ZNF323_uc003nlb.2_Missense_Mutation_p.G150C|ZNF323_uc010jrb.2_Missense_Mutation_p.G150C|ZNF323_uc003nlc.2_Missense_Mutation_p.G309C NM_001135216 NP_001128688 Q96LW9 ZN323_HUMAN zinc finger protein 323 309 C2H2-type 3. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 CGAGTGAGGCCATTGCTGGCA 0.512 Colon(115;1052 1587 16954 47314 53012) NA 42 233 1.15183e-24 2.20281e-24 0.009718 1 0 OR2J3 442186 broad.mit.edu 37 6 29079836 29079836 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr6:29079836C>A uc011dll.1 + 1 169 c.169C>A c.(169-171)CAT>AAT p.H57N NM_001005216 NP_001005216 O76001 OR2J3_HUMAN olfactory receptor, family 2, subfamily J, 57 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CCTGGACTCCCATCTGCACAC 0.458 NA 55 306 3.10202e-16 5.49809e-16 0.00361 1 0 ZFP57 346171 broad.mit.edu 37 6 29640787 29640787 + Silent SNP C C T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr6:29640787C>T uc011dlw.1 - 4 1252 c.1101G>A c.(1099-1101)CAG>CAA p.Q367Q ZFP57_uc003nnl.3_Silent_p.Q347Q NM_001109809 NP_001103279 Q9NU63 ZFP57_HUMAN zinc finger protein 57 homolog 283 DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding ovary(3)|skin(2) 5 ATCTGGCATCCTGACAGAGGG 0.498 NA 91 452 0 0 0.00361 0 0 HSPA1L 3305 broad.mit.edu 37 6 31777930 31777930 + Missense_Mutation SNP G G A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr6:31777930G>A uc003nxh.2 - 2 2003 c.1820C>T c.(1819-1821)CCT>CTT p.P607L HSPA1L_uc010jte.2_Missense_Mutation_p.P607L NM_005527 NP_005518 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 607 response to unfolded protein ATP binding ovary(3)|pleura(1)|kidney(1)|skin(1) 6 TGTGATGATAGGGTTACACAT 0.493 NA 8 144 0 0 0.00308 0 0 TTBK1 84630 broad.mit.edu 37 6 43221047 43221047 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr6:43221047G>T uc003ouq.1 + 4 554 c.275G>T c.(274-276)AGG>ATG p.R92M NM_032538 NP_115927 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 92 Protein kinase. cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 9 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) CATGTGTGCAGGTTCATTGGC 0.527 NA 9 190 7.93312e-07 1.04849e-06 0.00245 1 0 TDRD6 221400 broad.mit.edu 37 6 46658183 46658183 + Missense_Mutation SNP C C T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr6:46658183C>T uc003oyj.2 + 1 2318 c.2318C>T c.(2317-2319)ACA>ATA p.T773I TDRD6_uc010jze.2_Missense_Mutation_p.T767I NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 773 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) GTTGGAAGTACAGTAGAAGTC 0.398 NA 67 64 0 0 0.00361 0 0 PGK2 5232 broad.mit.edu 37 6 49754747 49754747 + Missense_Mutation SNP C C T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr6:49754747C>T uc003ozu.2 - 1 261 c.154G>A c.(154-156)GAC>AAC p.D52N NM_138733 NP_620061 P07205 PGK2_HUMAN phosphoglycerate kinase 2 52 glycolysis cytosol ATP binding|phosphoglycerate kinase activity ovary(1) 1 Lung NSC(77;0.0402) GCTCCATTGTCCAGGCAGTAC 0.463 NA 66 158 0 0 0.00361 0 0 GFRAL 389400 broad.mit.edu 37 6 55214930 55214930 + Silent SNP A A C TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr6:55214930A>C uc003pcm.1 + 4 443 c.357A>C c.(355-357)ACA>ACC p.T119T NM_207410 NP_997293 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like precursor 119 Extracellular (Potential). integral to membrane receptor activity ovary(1)|breast(1) 2 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) ATCTAACTACACGTTCCCATC 0.299 NA 6 23 0 0 0.001984 0 0 OOEP 441161 broad.mit.edu 37 6 74078997 74078997 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr6:74078997C>A uc003pgu.3 - 2 302 c.302G>T c.(301-303)CGT>CTT p.R101L OOEP_uc003pgv.3_Missense_Mutation_p.R46L NM_001080507 NP_001073976 A6NGQ2 OOEP_HUMAN oocyte expressed protein homolog 101 KH; atypical. cytoplasm 0 ATTCTGTACACGGGGCCGCCC 0.557 NA 6 37 2.17888e-05 2.70729e-05 0.006214 1 0 TRDN 10345 broad.mit.edu 37 6 123892215 123892215 + Missense_Mutation SNP C C T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr6:123892215C>T uc003pzj.1 - 2 107 c.85G>A c.(85-87)GGA>AGA p.G29R TRDN_uc003pzk.1_Missense_Mutation_p.G29R|TRDN_uc003pzl.1_Missense_Mutation_p.G29R|TRDN_uc010ken.2_Missense_Mutation_p.G29R|TRDN_uc010keo.1_Missense_Mutation_p.G29R NM_006073 NP_006064 Q13061 TRDN_HUMAN triadin 29 Cytoplasmic. muscle contraction integral to membrane|plasma membrane|sarcoplasmic reticulum membrane receptor binding ovary(1) 1 GBM - Glioblastoma multiforme(226;0.184) AGCACTTTTCCGGGGGATTTG 0.453 NA 8 64 0 0 0.008291 0 0 THBS2 7058 broad.mit.edu 37 6 169626329 169626329 + Silent SNP A A T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr6:169626329A>T uc003qwt.2 - 17 2732 c.2484T>A c.(2482-2484)GGT>GGA p.G828G NM_003247 NP_003238 P35442 TSP2_HUMAN thrombospondin 2 precursor 828 TSP type-3 5. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity ovary(5) 5 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) CCACACCGTCACCATCCGTGT 0.537 Esophageal Squamous(91;219 1934 18562 44706) NA 16 78 0 0 0.007413 0 0 ABCA13 154664 broad.mit.edu 37 7 48684282 48684282 + Missense_Mutation SNP G G C TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr7:48684282G>C uc003toq.2 + 61 15038 c.15013G>C c.(15013-15015)GTT>CTT p.V5005L ABCA13_uc010kys.1_Missense_Mutation_p.V2080L|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Missense_Mutation_p.V735L NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 5005 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 CTTGTTCAAAGTTATAGAGAA 0.323 NA 3 65 0 0 0.004672 0 0 ZNF716 441234 broad.mit.edu 37 7 57529005 57529005 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr7:57529005C>A uc011kdi.1 + 4 950 c.838C>A c.(838-840)CGC>AGC p.R280S NM_001159279 NP_001152751 zinc finger protein 716 ovary(2) 2 AGTCTTTAGCCGCTCAACACT 0.413 NA 10 28 4.68919e-08 6.50841e-08 0.008291 1 0 AKAP9 10142 broad.mit.edu 37 7 91609624 91609624 + Missense_Mutation SNP A A T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr7:91609624A>T uc003ulg.2 + 3 553 c.328A>T c.(328-330)ACA>TCA p.T110S AKAP9_uc003uld.3_Missense_Mutation_p.T110S|AKAP9_uc003ule.2_Missense_Mutation_p.T122S|AKAP9_uc003ulf.2_Missense_Mutation_p.T110S NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 122 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) AATTTCAACCACAGCAGATGA 0.234 NA T BRAF papillary thyroid 4 55 0 0 0.000602 0 0 GATAD1 57798 broad.mit.edu 37 7 92080020 92080020 + Missense_Mutation SNP C C G TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr7:92080020C>G uc003ulx.1 + 3 660 c.381C>G c.(379-381)ATC>ATG p.I127M GATAD1_uc011khq.1_RNA NM_021167 NP_066990 Q8WUU5 GATD1_HUMAN GATA zinc finger domain containing 1 127 sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_cancers(62;1.63e-10)|all_epithelial(64;8.33e-10)|Breast(17;0.00311)|all_lung(186;0.0498)|Lung NSC(181;0.0676) STAD - Stomach adenocarcinoma(171;4.51e-05)|GBM - Glioblastoma multiforme(5;8.83e-05)|all cancers(6;0.000136)|Lung(22;0.123)|Epithelial(20;0.179)|LUSC - Lung squamous cell carcinoma(200;0.225) CATAGCCCATCAAAGCTCCTG 0.398 NA 13 96 0 0 0.00245 0 0 SAMD9L 219285 broad.mit.edu 37 7 92762064 92762064 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr7:92762064C>A uc003umh.1 - 5 4437 c.3221G>T c.(3220-3222)GGA>GTA p.G1074V SAMD9L_uc003umj.1_Missense_Mutation_p.G1074V|SAMD9L_uc003umi.1_Missense_Mutation_p.G1074V|SAMD9L_uc010lfb.1_Missense_Mutation_p.G1074V|SAMD9L_uc003umk.1_Missense_Mutation_p.G1074V|SAMD9L_uc010lfc.1_Missense_Mutation_p.G1074V|SAMD9L_uc010lfd.1_Missense_Mutation_p.G1074V|SAMD9L_uc011khx.1_Intron NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1074 ovary(4) 4 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) TCGTCTACTTCCTGCACTCAA 0.413 NA 22 129 1.55795e-14 2.67168e-14 0.001882 1 0 GNG11 2791 broad.mit.edu 37 7 93555509 93555509 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr7:93555509G>T uc003und.2 + 2 637 c.203G>T c.(202-204)GGC>GTC p.G68V NM_004126 NP_004117 P61952 GBG11_HUMAN guanine nucleotide binding protein gamma 11 68 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway heterotrimeric G-protein complex GTPase activity|signal transducer activity kidney(1) 1 all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218) STAD - Stomach adenocarcinoma(171;0.000967) AAAGAAAAAGGCAGCTGTGTT 0.348 NA 9 101 2.17888e-05 2.70729e-05 0.006214 1 0 PPP1R9A 55607 broad.mit.edu 37 7 94791228 94791228 + Missense_Mutation SNP G G C TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr7:94791228G>C uc003unp.2 + 5 1981 c.1699G>C c.(1699-1701)GGT>CGT p.G567R PPP1R9A_uc010lfj.2_Missense_Mutation_p.G567R|PPP1R9A_uc011kif.1_Missense_Mutation_p.G567R|PPP1R9A_uc003unq.2_Missense_Mutation_p.G567R|PPP1R9A_uc011kig.1_Missense_Mutation_p.G567R NM_017650 NP_060120 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory (inhibitor) 567 PDZ. cell junction|synapse|synaptosome actin binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) CAGCTTGGTGGGTGTGACACA 0.363 NA HNSCC(28;0.073) 5 33 0 0 0.000602 0 0 TRRAP 8295 broad.mit.edu 37 7 98495465 98495465 + Missense_Mutation SNP G G C TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr7:98495465G>C uc003upp.2 + 8 818 c.609G>C c.(607-609)GAG>GAC p.E203D TRRAP_uc011kis.1_Missense_Mutation_p.E203D|TRRAP_uc003upr.2_5'Flank NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 203 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TCAACCCGGAGCGTGAGGACA 0.473 NA 28 146 0 0 0.009535 0 0 CYP3A5 1577 broad.mit.edu 37 7 99262907 99262907 + Silent SNP A A G TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr7:99262907A>G uc003urq.2 - 7 639 c.552T>C c.(550-552)ATT>ATC p.I184I ZNF498_uc003urn.2_Intron|CYP3A5_uc003urp.2_Silent_p.I4I|CYP3A5_uc003urr.2_Silent_p.I71I|CYP3A5_uc011kiy.1_Silent_p.I174I|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron NM_000777 NP_000768 P20815 CP3A5_HUMAN cytochrome P450, family 3, subfamily A, 184 alkaloid catabolic process|drug catabolic process|oxidative demethylation|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding 0 all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166) Alfentanil(DB00802)|Clopidogrel(DB00758)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Indinavir(DB00224)|Irinotecan(DB00762)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Mephenytoin(DB00532)|Midazolam(DB00683)|Mifepristone(DB00834)|Phenytoin(DB00252)|Quinine(DB00468)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Troleandomycin(DB01361)|Verapamil(DB00661)|Vincristine(DB00541) ATGTGCCAGTAATCACATCCA 0.428 NA 21 124 0 0 0.00278 0 0 MYL10 93408 broad.mit.edu 37 7 101265451 101265451 + Nonsense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr7:101265451C>A uc003uyr.2 - 5 557 c.379G>T c.(379-381)GAG>TAG p.E127* NM_138403 NP_612412 Q9BUA6 MYL10_HUMAN myosin, light chain 10, regulatory 127 mitochondrion calcium ion binding ovary(1)|breast(1) 2 ACCATGGCCTCCAGTTCCTCG 0.597 Esophageal Squamous(24;575 709 17516 40384 51639) NA 10 67 1.5842e-08 2.25152e-08 0.001855 1 0 LAMB1 3912 broad.mit.edu 37 7 107603427 107603427 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr7:107603427C>A uc003vew.2 - 15 2115 c.1780G>T c.(1780-1782)GGG>TGG p.G594W LAMB1_uc003vev.2_Missense_Mutation_p.G618W|LAMB1_uc003vex.2_Missense_Mutation_p.G594W|LAMB1_uc010ljn.1_Missense_Mutation_p.G680W NM_002291 NP_002282 P07942 LAMB1_HUMAN laminin, beta 1 precursor 594 Laminin IV type B. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 8 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AAATAAGCCCCTTCAGGCACT 0.502 NA 6 225 1.06961e-07 1.45062e-07 0.00308 1 0 PTPRZ1 5803 broad.mit.edu 37 7 121651440 121651440 + Silent SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr7:121651440C>A uc003vjy.2 + 12 2735 c.2340C>A c.(2338-2340)ATC>ATA p.I780I PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 780 Extracellular (Potential). central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 ACAATCAGATCCTCAACACTA 0.473 NA 16 267 4.14922e-12 6.7001e-12 0.004007 1 0 CLCN1 1180 broad.mit.edu 37 7 143013364 143013364 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr7:143013364C>A uc003wcr.1 + 1 146 c.59C>A c.(58-60)CCC>CAC p.P20H CLCN1_uc011ktc.1_5'UTR NM_000083 NP_000074 P35523 CLCN1_HUMAN chloride channel 1, skeletal muscle 20 Cytoplasmic (By similarity). muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Melanoma(164;0.205) GGTAGTGACCCCCAGTACCAG 0.642 NA 25 208 4.4004e-07 5.8531e-07 0.00333 1 0 ABCB8 11194 broad.mit.edu 37 7 150732736 150732736 + Silent SNP G G C TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr7:150732736G>C uc003wil.3 + 7 978 c.885G>C c.(883-885)ACG>ACC p.T295T ABCB8_uc003wii.2_Silent_p.T315T|ABCB8_uc003wij.3_Silent_p.T278T|ABCB8_uc010lpw.1_Silent_p.T97T|ABCB8_uc010lpx.2_Silent_p.T278T|ABCB8_uc011kvd.1_Silent_p.T190T|ABCB8_uc003wim.3_Silent_p.T73T|ABCB8_uc003wik.3_Silent_p.T278T NM_007188 NP_009119 Q9NUT2 ABCB8_HUMAN ATP-binding cassette, sub-family B, member 8 295 ABC transmembrane type-1. ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CACGCCTCACGCTGCTGCTGA 0.657 NA 11 103 0 0 0.001855 0 0 ABCF2 10061 broad.mit.edu 37 7 150915920 150915920 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr7:150915920C>A uc003wjp.2 - 9 1168 c.1057G>T c.(1057-1059)GCC>TCC p.A353S ABCF2_uc003wjo.1_Missense_Mutation_p.A353S NM_007189 NP_009120 Q9UG63 ABCF2_HUMAN ATP-binding cassette, sub-family F, member 2 353 ATP-binding cassette (ABC) transporter complex|mitochondrial envelope ATP binding|ATPase activity|transporter activity central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCCTGCCGGGCCAGCTTGGCA 0.453 NA 25 131 2.81731e-10 4.33032e-10 0.002096 1 0 HTR5A 3361 broad.mit.edu 37 7 154862977 154862977 + Missense_Mutation SNP T T C TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr7:154862977T>C uc003wlu.1 + 1 432 c.368T>C c.(367-369)CTT>CCT p.L123P uc011kvt.1_Missense_Mutation_p.S13G|uc003wlt.2_Missense_Mutation_p.S13G NM_024012 NP_076917 P47898 5HT5A_HUMAN 5-hydroxytryptamine receptor 5A 123 Helical; Name=3; (By similarity). integral to plasma membrane serotonin receptor activity ovary(2)|large_intestine(1) 3 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) TGCGACGTGCTTTGCTGCACG 0.667 NA 10 32 0 0 0.001368 0 0 PTPRN2 5799 broad.mit.edu 37 7 157929352 157929352 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr7:157929352G>T uc003wno.2 - 8 1289 c.1168C>A c.(1168-1170)CAA>AAA p.Q390K PTPRN2_uc003wnp.2_Missense_Mutation_p.Q373K|PTPRN2_uc003wnq.2_Missense_Mutation_p.Q390K|PTPRN2_uc003wnr.2_Missense_Mutation_p.Q352K|PTPRN2_uc011kwa.1_Missense_Mutation_p.Q413K NM_002847 NP_002838 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N 390 Extracellular (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(4)|large_intestine(1)|pleura(1)|skin(1) 7 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) CTTACCTCTTGGTAAAGTCTA 0.413 NA 24 114 3.73148e-12 6.04907e-12 0.007291 1 0 CSMD1 64478 broad.mit.edu 37 8 2949091 2949091 + Missense_Mutation SNP C C T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr8:2949091C>T uc011kwk.1 - 48 7625 c.7235G>A c.(7234-7236)CGC>CAC p.R2412H CSMD1_uc011kwj.1_Missense_Mutation_p.R1741H|CSMD1_uc010lrg.2_Missense_Mutation_p.R480H NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2412 CUB 14.|Extracellular (Potential). integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AGTGGACCAGCGGAGATATAA 0.383 NA 8 30 0 0 0.006214 0 0 RP1L1 94137 broad.mit.edu 37 8 10470413 10470413 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr8:10470413C>A uc003wtc.2 - 4 1424 c.1195G>T c.(1195-1197)GGG>TGG p.G399W NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 399 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) CCTGGCTGCCCGCCTCGGCCA 0.657 NA 11 102 0.000151284 0.00017938 0.001855 1 0 C8orf79 57604 broad.mit.edu 37 8 12878877 12878877 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr8:12878877C>A uc010lsq.2 + 5 1181 c.689C>A c.(688-690)TCT>TAT p.S230Y C8orf79_uc011kxw.1_Intron|C8orf79_uc003wwj.3_Missense_Mutation_p.S143Y|C8orf79_uc010lsr.2_Missense_Mutation_p.S104Y NM_020844 NP_065895 Q9P272 K1456_HUMAN hypothetical protein LOC57604 isoform 1 230 methyltransferase activity 0 GCAAATATTTCTAAGGAAGGC 0.423 NA 10 128 0.00136819 0.00153046 0.001368 1 0 CNOT7 29883 broad.mit.edu 37 8 17090038 17090038 + Missense_Mutation SNP T T A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr8:17090038T>A uc003wxf.1 - 6 795 c.627A>T c.(625-627)TTA>TTT p.L209F CNOT7_uc003wxg.1_Missense_Mutation_p.L209F|CNOT7_uc003wxh.1_Missense_Mutation_p.L209F NM_013354 NP_037486 Q9UIV1 CNOT7_HUMAN CCR4-NOT transcription complex, subunit 7 209 carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(1) 1 Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209) CCACCTCCTGTAATCCACCCT 0.378 NA 15 167 0 0 0.004007 0 0 CNOT7 29883 broad.mit.edu 37 8 17090042 17090042 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr8:17090042C>A uc003wxf.1 - 6 791 c.623G>T c.(622-624)GGA>GTA p.G208V CNOT7_uc003wxg.1_Missense_Mutation_p.G208V|CNOT7_uc003wxh.1_Missense_Mutation_p.G208V NM_013354 NP_037486 Q9UIV1 CNOT7_HUMAN CCR4-NOT transcription complex, subunit 7 208 carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(1) 1 Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209) CTCCTGTAATCCACCCTAGAA 0.368 NA 15 159 6.72482e-11 1.05712e-10 0.003163 1 0 AGPAT6 137964 broad.mit.edu 37 8 41476485 41476485 + Silent SNP G G A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr8:41476485G>A uc003xnz.2 + 12 2190 c.1251G>A c.(1249-1251)GTG>GTA p.V417V NM_178819 NP_848934 Q86UL3 GPAT4_HUMAN lysophosphatidic acid acyltransferase zeta 417 acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction glycerol-3-phosphate O-acyltransferase activity 0 Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211) all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844) OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147) GAGGACTTGTGGACCTGCTGT 0.498 NA 12 58 0 0 0.000978 0 0 SNTG1 54212 broad.mit.edu 37 8 51362272 51362272 + Silent SNP C C G TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr8:51362272C>G uc010lxy.1 + 7 635 c.264C>G c.(262-264)TCC>TCG p.S88S SNTG1_uc003xqs.1_Silent_p.S88S|SNTG1_uc010lxz.1_Silent_p.S88S|SNTG1_uc011ldl.1_RNA NM_018967 NP_061840 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 88 PDZ. cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding ovary(5) 5 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) CAAAAATCTCCAAGGAACAAA 0.313 NA 5 27 0 0 0.000602 0 0 TRPA1 8989 broad.mit.edu 37 8 72942164 72942164 + Missense_Mutation SNP T T A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr8:72942164T>A uc003xza.2 - 24 3084 c.2909A>T c.(2908-2910)CAT>CTT p.H970L uc011lff.1_Intron|uc003xyy.2_Intron NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 970 Cytoplasmic (Potential). integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) CAATGATGCATGTTTCTGGAC 0.284 NA 16 61 0 0 0.004007 0 0 ZFHX4 79776 broad.mit.edu 37 8 77764254 77764254 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr8:77764254G>T uc003yav.2 + 10 5349 c.4962G>T c.(4960-4962)CAG>CAT p.Q1654H ZFHX4_uc003yau.1_Missense_Mutation_p.Q1699H|ZFHX4_uc003yaw.1_Missense_Mutation_p.Q1654H NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1654 Gln-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) TGCAACTACAGCACGAATTAC 0.438 NA HNSCC(33;0.089) 7 89 5.4927e-09 7.99815e-09 0.004482 1 0 SLC7A13 157724 broad.mit.edu 37 8 87242421 87242421 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr8:87242421G>T uc003ydq.1 - 1 184 c.86C>A c.(85-87)GCA>GAA p.A29E SLC7A13_uc003ydr.1_Missense_Mutation_p.A29E NM_138817 NP_620172 Q8TCU3 S7A13_HUMAN solute carrier family 7, (cationic amino acid 29 Helical; Name=1; (Potential). integral to membrane amino acid transmembrane transporter activity central_nervous_system(1) 1 AAAAATTCCTGCACCAATGAT 0.453 NA 8 94 0.000157383 0.000184503 0.00308 1 0 SNTB1 6641 broad.mit.edu 37 8 121706136 121706136 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr8:121706136C>A uc010mdg.2 - 2 810 c.584G>T c.(583-585)CGA>CTA p.R195L SNTB1_uc003ype.2_Missense_Mutation_p.R195L NM_021021 NP_066301 Q13884 SNTB1_HUMAN basic beta 1 syntrophin 195 PH 1.|PDZ. muscle contraction cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma actin binding|calmodulin binding skin(5) 5 Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997) STAD - Stomach adenocarcinoma(47;0.00503) CGTGGCTTCTCGCATGTACTT 0.483 NA 11 76 0.00185496 0.00206938 0.001855 1 0 TG 7038 broad.mit.edu 37 8 133953768 133953768 + Silent SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr8:133953768C>A uc003ytw.2 + 26 5255 c.5214C>A c.(5212-5214)GTC>GTA p.V1738V TG_uc010mdw.2_Silent_p.V497V|TG_uc011ljb.1_Intron NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 1738 Type IIIB. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) ATGGCTTCGTCCTCACACAGG 0.542 NA 13 79 0.000308642 0.00035481 0.003163 1 0 FAM135B 51059 broad.mit.edu 37 8 139180236 139180236 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr8:139180236C>A uc003yuy.2 - 12 1331 c.1160G>T c.(1159-1161)AGC>ATC p.S387I FAM135B_uc003yux.2_Missense_Mutation_p.S288I|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 387 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CGGGGGCATGCTAGTGAGGTA 0.607 NA HNSCC(54;0.14) 32 152 1.62565e-12 2.65608e-12 0.002445 1 0 SPATC1 375686 broad.mit.edu 37 8 145095635 145095635 + Missense_Mutation SNP T T A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr8:145095635T>A uc011lkw.1 + 3 1035 c.933T>A c.(931-933)AGT>AGA p.S311R SPATC1_uc011lkx.1_Missense_Mutation_p.S311R NM_198572 NP_940974 Q76KD6 SPERI_HUMAN spermatogenesis and centriole associated 1 311 ovary(1)|central_nervous_system(1) 2 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;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCCAGCCCAGTGCCGCCCAGG 0.393 NA 9 42 0 0 0.006214 0 0 HEATR7A 727957 broad.mit.edu 37 8 145235188 145235188 + Silent SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr8:145235188G>T uc003zbk.3 + 6 645 c.408G>T c.(406-408)GGG>GGT p.G136G HEATR7A_uc003zbg.2_Silent_p.G136G|HEATR7A_uc003zbh.3_Silent_p.G136G|HEATR7A_uc003zbi.3_Silent_p.G136G|HEATR7A_uc011lla.1_Silent_p.G136G|HEATR7A_uc010mft.2_Silent_p.G136G NM_032450 NP_115826 Q8NDA8 HTR7A_HUMAN HEAT repeat containing 7A isoform 1 136 binding 0 TGCACCCTGGGACCCTGCCAC 0.697 NA 6 36 2.0095e-06 2.62246e-06 0.001984 1 0 KIAA1797 54914 broad.mit.edu 37 9 20717833 20717833 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr9:20717833G>T uc003zog.1 + 5 461 c.98G>T c.(97-99)GGT>GTT p.G33V NM_017794 NP_060264 Q5VW36 K1797_HUMAN hypothetical protein LOC54914 33 integral to membrane binding ovary(8)|breast(1)|kidney(1) 10 GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11) aaggaaaatggtttttcAGAA 0.264 NA 8 39 0.00621372 0.0066979 0.006214 1 0 KIAA1797 54914 broad.mit.edu 37 9 20926351 20926351 + Missense_Mutation SNP A A T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr9:20926351A>T uc003zog.1 + 28 3376 c.3013A>T c.(3013-3015)ACA>TCA p.T1005S KIAA1797_uc003zoh.1_Missense_Mutation_p.T441S NM_017794 NP_060264 Q5VW36 K1797_HUMAN hypothetical protein LOC54914 1005 integral to membrane binding ovary(8)|breast(1)|kidney(1) 10 GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11) GGTACTTGATACACTCTTGGT 0.348 NA 13 103 0 0 0.001855 0 0 PTENP1 11191 broad.mit.edu 37 9 33676082 33676082 + Missense_Mutation SNP G G A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr9:33676082G>A uc003zth.3 - 1 1337 c.466C>T c.(466-468)CCA>TCA p.P156S NR_023917 SubName: Full=Phosphatase and tensin homolog 2; Flags: Fragment; 0 AGTGCCACTGGTCTATAATCC 0.428 NA 16 183 0 0 0.003163 0 0 CCIN 881 broad.mit.edu 37 9 36170205 36170205 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr9:36170205G>T uc003zzb.3 + 1 817 c.706G>T c.(706-708)GCC>TCC p.A236S NM_005893 NP_005884 Q13939 CALI_HUMAN calicin 236 cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton ovary(1)|skin(1) 2 STAD - Stomach adenocarcinoma(86;0.228) GCTGGTGTTTGCCAGCAACAA 0.502 NA 10 38 4.68919e-08 6.50841e-08 0.008291 1 0 FAM75A2 642265 broad.mit.edu 37 9 39888226 39888226 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr9:39888226C>A uc004abp.2 + 4 1242 c.1213C>A c.(1213-1215)CAG>AAG p.Q405K NM_001040065 NP_001035154 Q5RGS2 F75A2_HUMAN hypothetical protein LOC642265 405 integral to membrane 0 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) TAGGCTCTGGCAGGAAAGTTT 0.532 NA 73 352 9.35349e-44 1.84843e-43 0.00361 1 0 FLJ46321 389763 broad.mit.edu 37 9 84606311 84606311 + Missense_Mutation SNP G G T rs147400236 by1000genomes TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr9:84606311G>T uc004amn.2 + 4 973 c.926G>T c.(925-927)TGC>TTC p.C309F NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 309 integral to membrane 0 CCGGAAGATTGCACTGTGACT 0.488 NA 32 356 2.08457e-15 3.63486e-15 0.002096 1 0 FLJ46321 389763 broad.mit.edu 37 9 84608122 84608122 + Missense_Mutation SNP A A T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr9:84608122A>T uc004amn.2 + 4 2784 c.2737A>T c.(2737-2739)AGG>TGG p.R913W NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 913 integral to membrane 0 TTTCCGTATGAGGATGCTGTG 0.458 NA 12 47 0 0 0.000978 0 0 KIF27 55582 broad.mit.edu 37 9 86503486 86503486 + Missense_Mutation SNP A A C TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr9:86503486A>C uc004ana.2 - 8 2145 c.2001T>G c.(1999-2001)ATT>ATG p.I667M KIF27_uc010mpw.2_Missense_Mutation_p.I667M|KIF27_uc010mpx.2_Missense_Mutation_p.I667M NM_017576 NP_060046 Q86VH2 KIF27_HUMAN kinesin family member 27 667 cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity lung(4)|skin(1) 5 CTGGCTTCTGAATCCATGAAC 0.348 NA 6 60 0 0 0.001984 0 0 NTRK2 4915 broad.mit.edu 37 9 87636230 87636230 + Missense_Mutation SNP T T A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr9:87636230T>A uc004aoa.1 + 20 3285 c.2347T>A c.(2347-2349)TAT>AAT p.Y783N NTRK2_uc004anz.1_Missense_Mutation_p.Y799N NM_001018064 NP_001018074 Q16620 NTRK2_HUMAN neurotrophic tyrosine kinase, receptor, type 2 783 Protein kinase.|Cytoplasmic (Potential). activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1) 16 CCAGGAGGTGTATGAGCTGAT 0.572 NA TSP Lung(25;0.17) 8 63 0 0 0.006214 0 0 TMEFF1 8577 broad.mit.edu 37 9 103279049 103279049 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr9:103279049G>T uc004baz.1 + 5 666 c.556G>T c.(556-558)GTT>TTT p.V186F TMEFF1_uc004bay.1_Missense_Mutation_p.V260F NM_003692 NP_003683 Q8IYR6 TEFF1_HUMAN transmembrane protein with EGF-like and two 186 Kazal-like 2.|Extracellular (Potential). multicellular organismal development integral to membrane|plasma membrane 0 Acute lymphoblastic leukemia(62;0.0452) TGCAGAAAATGTTGGGTGAGT 0.398 NA 11 64 1.5842e-08 2.25152e-08 0.001855 1 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112898590 112898590 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr9:112898590C>A uc004bei.2 + 9 1654 c.1462C>A c.(1462-1464)CAT>AAT p.H488N PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.H256N|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.H256N|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.H66N|AKAP2_uc011lwi.1_Missense_Mutation_p.H114N|AKAP2_uc004bem.2_Missense_Mutation_p.H114N|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.H74N|AKAP2_uc011lwj.1_Missense_Mutation_p.H25N|PALM2-AKAP2_uc004ben.2_Missense_Mutation_p.H25N NM_001136562 NP_001130034 Q9Y2D5 AKAP2_HUMAN A kinase (PRKA) anchor protein 2 isoform 2 25 enzyme binding ovary(3)|central_nervous_system(2)|skin(1) 6 TCCCATGGACCATCCCTCCGC 0.478 NA 37 179 1.07121e-22 2.02069e-22 0.006999 1 0 OR1L8 138881 broad.mit.edu 37 9 125330565 125330565 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr9:125330565C>A uc004bmp.1 - 1 192 c.192G>T c.(190-192)TTG>TTT p.L64F NM_001004454 NP_001004454 Q8NGR8 OR1L8_HUMAN olfactory receptor, family 1, subfamily L, 64 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 ACAGAAAACTCAAGAAGAAAT 0.463 NA 9 81 0.000274275 0.000316178 0.004482 1 0 SDCCAG3 10807 broad.mit.edu 37 9 139304594 139304594 + Silent SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr9:139304594C>A uc004chi.2 - 2 373 c.168G>T c.(166-168)CCG>CCT p.P56P SDCCAG3_uc004chj.2_Silent_p.P56P|SDCCAG3_uc004chk.2_Intron|PMPCA_uc011mdy.1_5'Flank|PMPCA_uc010nbk.2_5'Flank|PMPCA_uc004chl.2_5'Flank|PMPCA_uc010nbl.2_5'Flank|PMPCA_uc011mdz.1_5'Flank NM_001039707 NP_001034796 Q96C92 SDCG3_HUMAN serologically defined colon cancer antigen 3 56 cytoplasm 0 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06) ACATAAAGGCCGGCCGAATGC 0.473 NA 6 22 0.00448238 0.00488238 0.004482 1 0 PNPLA7 375775 broad.mit.edu 37 9 140356755 140356755 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr9:140356755C>A uc004cnf.2 - 30 3783 c.3446G>T c.(3445-3447)CGC>CTC p.R1149L C9orf167_uc011mew.1_Intron|PNPLA7_uc004cnd.1_Intron|PNPLA7_uc004cne.1_Missense_Mutation_p.R415L|PNPLA7_uc011mfa.1_Missense_Mutation_p.R557L|PNPLA7_uc010ncj.1_Missense_Mutation_p.R1174L|NELF_uc004cna.2_5'Flank|NELF_uc011mez.1_5'Flank|NELF_uc004cmz.2_5'Flank|NELF_uc004cnc.2_5'Flank|NELF_uc004cnb.2_5'Flank NM_152286 NP_689499 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 1149 lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity skin(1) 1 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) GTAGGCCAGGCGCGTCTGAAT 0.667 NA 10 82 6.40141e-05 7.74515e-05 0.000978 1 0 MXRA5 25878 broad.mit.edu 37 X 3235287 3235287 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chrX:3235287G>T uc004crg.3 - 6 6592 c.6435C>A c.(6433-6435)AAC>AAA p.N2145K NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 2145 extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) TGATGCGCGCGTTGGCTGCTG 0.711 NA 7 31 1.12685e-05 1.42141e-05 0.004482 1 0 MOSPD2 158747 broad.mit.edu 37 X 14934407 14934407 + Silent SNP G G A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chrX:14934407G>A uc004cwi.2 + 13 1363 c.1275G>A c.(1273-1275)CAG>CAA p.Q425Q MOSPD2_uc004cwj.2_Silent_p.Q362Q NM_152581 NP_689794 Q8NHP6 MSPD2_HUMAN motile sperm domain containing 2 425 MSP. integral to membrane structural molecule activity lung(1) 1 Hepatocellular(33;0.183) AATTAACTCAGTTTTGGAAAG 0.418 NA 38 208 0 0 0.009718 0 0 NHS 4810 broad.mit.edu 37 X 17744628 17744628 + Missense_Mutation SNP T T C TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chrX:17744628T>C uc004cxx.2 + 6 2677 c.2339T>C c.(2338-2340)GTC>GCC p.V780A NHS_uc011mix.1_Missense_Mutation_p.V801A|NHS_uc004cxy.2_Missense_Mutation_p.V624A|NHS_uc004cxz.2_Missense_Mutation_p.V603A|NHS_uc004cya.2_Missense_Mutation_p.V503A NM_198270 NP_938011 Q6T4R5 NHS_HUMAN Nance-Horan syndrome protein isoform 1 780 nucleus skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 Hepatocellular(33;0.183) AAGAGCTATGTCTGTCACTAT 0.512 NA 34 264 0 0 0.003755 0 0 CXorf59 286464 broad.mit.edu 37 X 36122683 36122683 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chrX:36122683C>A uc004ddk.1 + 8 1106 c.920C>A c.(919-921)ACA>AAA p.T307K NM_173695 NP_775966 Q8N9S7 CX059_HUMAN hypothetical protein LOC286464 307 integral to membrane central_nervous_system(1) 1 GTGCAAAATACACCAAAAGTC 0.363 NA 7 124 5.18039e-06 6.61496e-06 0.00308 1 0 CYBB 1536 broad.mit.edu 37 X 37658247 37658247 + Silent SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chrX:37658247G>T uc004ddr.2 + 7 775 c.714G>T c.(712-714)GTG>GTT p.V238V CYBB_uc011mke.1_RNA|CYBB_uc011mkf.1_Silent_p.V206V|CYBB_uc011mkg.1_5'UTR NM_000397 NP_000388 P04839 CY24B_HUMAN cytochrome b-245 beta polypeptide 238 Extracellular (Potential).|Ferric oxidoreductase. electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity central_nervous_system(1)|skin(1) 2 GTTTGGCTGTGCATAATATAA 0.368 NA 5 39 1.23904e-05 1.5488e-05 0.000602 1 0 RPGR 6103 broad.mit.edu 37 X 38132681 38132681 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chrX:38132681G>T uc004deb.2 - 18 2367 c.2199C>A c.(2197-2199)AAC>AAA p.N733K RPGR_uc004dea.2_RNA|RPGR_uc004dec.2_RNA NM_000328 NP_000319 Q92834 RPGR_HUMAN retinitis pigmentosa GTPase regulator isoform A Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 TTGTTTCACTGTTTTCTAGGA 0.299 NA 5 32 8.12818e-05 9.77738e-05 0.001984 1 0 USP9X 8239 broad.mit.edu 37 X 41012324 41012324 + Silent SNP A A G TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chrX:41012324A>G uc004dfb.2 + 14 2520 c.1887A>G c.(1885-1887)CTA>CTG p.L629L USP9X_uc004dfc.2_Silent_p.L629L NM_001039590 NP_001034679 Q93008 USP9X_HUMAN ubiquitin specific protease 9, X-linked isoform 629 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity lung(3)|breast(2)|ovary(1) 6 GCATGAGACTATATGCTAGAG 0.338 Ovarian(172;1807 2695 35459 49286) NA 24 109 0 0 0.003954 0 0 ZNF674 641339 broad.mit.edu 37 X 46387869 46387869 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chrX:46387869C>A uc004dgr.2 - 5 381 c.154G>T c.(154-156)GGG>TGG p.G52W ZNF674_uc011mlg.1_Missense_Mutation_p.G52W|ZNF674_uc010nhm.2_Missense_Mutation_p.G52W NM_001039891 NP_001034980 Q2M3X9 ZN674_HUMAN zinc finger family member 674 isoform 1 52 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2) 2 TCTGGCTTCCCAACTAGATGC 0.567 NA 17 114 4.35082e-09 6.42558e-09 0.010504 1 0 ZNF81 347344 broad.mit.edu 37 X 47774732 47774732 + Missense_Mutation SNP G G C TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chrX:47774732G>C uc010nhy.1 + 6 1055 c.687G>C c.(685-687)CAG>CAC p.Q229H NM_007137 NP_009068 P51508 ZNF81_HUMAN zinc finger protein 81 229 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(315;0.0973) TTTTTACCCAGAACTCTTCTT 0.373 NA 10 111 0 0 0.008291 0 0 TIMM17B 10245 broad.mit.edu 37 X 48754088 48754088 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chrX:48754088C>A uc004dlc.1 - 3 229 c.80G>T c.(79-81)GGT>GTT p.G27V PQBP1_uc004dle.2_5'Flank|PQBP1_uc004dlf.2_5'Flank|PQBP1_uc004dlg.2_5'Flank|PQBP1_uc004dld.2_5'Flank|PQBP1_uc004dlh.2_5'Flank|PQBP1_uc004dli.2_5'Flank|PQBP1_uc004dlj.1_5'Flank|PQBP1_uc004dln.2_5'Flank|PQBP1_uc010nih.2_5'Flank|PQBP1_uc010nii.2_5'Flank|PQBP1_uc004dlk.2_5'Flank|PQBP1_uc004dll.2_5'Flank|PQBP1_uc004dlm.2_5'Flank|PQBP1_uc010nij.2_5'Flank|TIMM17B_uc004dla.1_Missense_Mutation_p.G27V|TIMM17B_uc004dlb.1_Missense_Mutation_p.V13L NM_005834 NP_005825 O60830 TI17B_HUMAN translocase of inner mitochondrial membrane 17 27 Helical; (Potential). protein targeting to mitochondrion integral to membrane|microtubule cytoskeleton|mitochondrial inner membrane presequence translocase complex P-P-bond-hydrolysis-driven protein transmembrane transporter activity ovary(1) 1 GACTCCGCCACCGATGACACC 0.587 NA 8 80 0.00307968 0.00337221 0.00308 1 0 DGKK 139189 broad.mit.edu 37 X 50119912 50119912 + Silent SNP A A G TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chrX:50119912A>G uc010njr.1 - 24 3177 c.3117T>C c.(3115-3117)TTT>TTC p.F1039F NM_001013742 NP_001013764 Q5KSL6 DGKK_HUMAN diacylglycerol kinase kappa 1039 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1) 2 Ovarian(276;0.236) TTGAGTTCTCAAAGTCCTGGA 0.478 NA 9 34 0 0 0.008291 0 0 RRAGB 10325 broad.mit.edu 37 X 55784734 55784734 + Silent SNP G G C TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chrX:55784734G>C uc004dup.2 + 11 1734 c.1083G>C c.(1081-1083)CTG>CTC p.L361L RRAGB_uc004duq.2_Silent_p.L333L NM_016656 NP_057740 Q5VZM2 RRAGB_HUMAN Ras-related GTP binding B long isoform 361 cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction Golgi apparatus|lysosome|nucleus GTP binding|protein binding 0 TTGAAAAGCTGGAAAGAGTGG 0.423 NA 3 19 0 0 0.009096 0 0 MED12 9968 broad.mit.edu 37 X 70342990 70342990 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chrX:70342990G>T uc004dyy.2 + 11 1730 c.1531G>T c.(1531-1533)GCT>TCT p.A511S MED12_uc011mpq.1_Missense_Mutation_p.A511S|MED12_uc004dyz.2_Missense_Mutation_p.A511S|MED12_uc004dza.2_Missense_Mutation_p.A358S NM_005120 NP_005111 Q93074 MED12_HUMAN mediator complex subunit 12 511 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Renal(35;0.156) ATGTGAATGGGCTGTCAGCTG 0.527 NA 39 234 1.96642e-18 3.5636e-18 0.006999 1 0 KIAA2022 340533 broad.mit.edu 37 X 73963899 73963899 + Missense_Mutation SNP G G C TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chrX:73963899G>C uc004eby.2 - 3 1110 c.493C>G c.(493-495)CTG>GTG p.L165V NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 165 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 CCAACTTTCAGACTGATCCCT 0.448 NA 10 117 0 0 0.008291 0 0 MAGEE1 57692 broad.mit.edu 37 X 75649077 75649077 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chrX:75649077C>A uc004ecm.1 + 1 961 c.754C>A c.(754-756)CGT>AGT p.R252S NM_020932 NP_065983 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 252 Pro-rich. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|ovary(1)|pancreas(1)|skin(1) 6 GCCACCCACCCGTGATGAGGG 0.697 NA 10 28 6.40141e-05 7.74515e-05 0.000978 1 0 MAGT1 84061 broad.mit.edu 37 X 77086363 77086363 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chrX:77086363C>A uc004fof.2 - 9 1089 c.1027G>T c.(1027-1029)GTA>TTA p.V343L MAGT1_uc004fog.3_RNA NM_032121 NP_115497 Q9H0U3 MAGT1_HUMAN magnesium transporter 1 311 Helical; (Potential). V -> G (in MRX95). protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex upper_aerodigestive_tract(1) 1 AAGAATAATACAACAAGTCCA 0.323 NA 11 50 0.000151284 0.00017938 0.001855 1 0 ZCCHC5 203430 broad.mit.edu 37 X 77913592 77913592 + Missense_Mutation SNP G G A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chrX:77913592G>A uc004edc.1 - 2 622 c.326C>T c.(325-327)CCA>CTA p.P109L NM_152694 NP_689907 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 109 Pro-rich. nucleic acid binding|zinc ion binding ovary(1) 1 TGGGGCTGCTGGGGCCTCCTG 0.637 NA 13 43 0 0 0.001855 0 0 CSTF2 1478 broad.mit.edu 37 X 100086550 100086550 + Silent SNP T T A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chrX:100086550T>A uc004egh.2 + 9 994 c.936T>A c.(934-936)CCT>CCA p.P312P CSTF2_uc010nnd.2_Silent_p.P332P|CSTF2_uc004egi.2_Silent_p.P295P NM_001325 NP_001316 P33240 CSTF2_HUMAN cleavage stimulation factor subunit 2 312 Gly/Pro-rich. mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cleavage body|mRNA cleavage and polyadenylation specificity factor complex nucleotide binding|protein binding|protein binding|RNA binding skin(1) 1 GATCCTTGCCTGCGAATGTCC 0.527 NA 16 245 0 0 0.006122 0 0 BHLHB9 80823 broad.mit.edu 37 X 102004639 102004639 + Missense_Mutation SNP C C T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chrX:102004639C>T uc010nog.2 + 4 1287 c.716C>T c.(715-717)TCT>TTT p.S239F BHLHB9_uc011mrq.1_Missense_Mutation_p.S239F|BHLHB9_uc011mrr.1_Missense_Mutation_p.S239F|BHLHB9_uc011mrs.1_Missense_Mutation_p.S239F|BHLHB9_uc011mrt.1_Missense_Mutation_p.S239F|BHLHB9_uc004ejo.2_Missense_Mutation_p.S239F|BHLHB9_uc011mru.1_Missense_Mutation_p.S239F|BHLHB9_uc011mrv.1_Missense_Mutation_p.S239F NM_001142526 NP_001135998 Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class 239 cytoplasm|nucleus binding ovary(2) 2 CAGGCACCATCTGAGGCAAGC 0.507 NA 24 193 0 0 0.002299 0 0 ATG4A 115201 broad.mit.edu 37 X 107381398 107381398 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chrX:107381398C>A uc004enr.2 + 9 914 c.791C>A c.(790-792)GCG>GAG p.A264E ATG4A_uc004ent.2_Intron|ATG4A_uc004ens.2_Missense_Mutation_p.A180E|ATG4A_uc011msl.1_Intron|ATG4A_uc010npi.2_Intron|ATG4A_uc004enu.2_Missense_Mutation_p.A180E NM_052936 NP_443168 Q8WYN0 ATG4A_HUMAN autophagy-related cysteine endopeptidase 2 264 autophagy|protein transport|proteolysis cytoplasm cysteine-type peptidase activity pancreas(1) 1 CCAAATAACGCGTATTATTTC 0.458 NA 47 311 8.00217e-19 1.45653e-18 0.00361 1 0 COL4A5 1287 broad.mit.edu 37 X 107821581 107821581 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chrX:107821581C>A uc004enz.1 + 13 950 c.748C>A c.(748-750)CCA>ACA p.P250T COL4A5_uc011mso.1_Missense_Mutation_p.P250T NM_033380 NP_203699 P29400 CO4A5_HUMAN type IV collagen alpha 5 isoform 2 precursor 250 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding ovary(3)|central_nervous_system(1) 4 ACAGAAAAGACCAATTGATGT 0.378 NA Alport_syndrome_with_Diffuse_Leiomyomatosis 15 119 5.01169e-05 6.13526e-05 0.00499 1 0 GUCY2F 2986 broad.mit.edu 37 X 108708514 108708514 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chrX:108708514C>A uc004eod.3 - 3 1165 c.889G>T c.(889-891)GTC>TTC p.V297F GUCY2F_uc011msq.1_RNA NM_001522 NP_001513 P51841 GUC2F_HUMAN guanylate cyclase 2F precursor 297 Extracellular (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity lung(4)|breast(3)|central_nervous_system(1) 8 TTCCTTAGGACCCGGTAGGGG 0.478 NA 42 181 2.59497e-14 4.43174e-14 0.007835 1 0 TRPC5 7224 broad.mit.edu 37 X 111090471 111090471 + Missense_Mutation SNP T T A rs3027722 TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chrX:111090471T>A uc004epl.1 - 6 2490 c.1571A>T c.(1570-1572)TAC>TTC p.Y524F TRPC5_uc004epm.1_Missense_Mutation_p.Y524F NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, 524 Helical; (Potential). axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity urinary_tract(1) 1 TACCAGGCAGTAGATAAAGAG 0.463 NA 25 179 0 0 0.00278 0 0 ZCCHC16 340595 broad.mit.edu 37 X 111698312 111698312 + Missense_Mutation SNP G G C rs149089921 TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chrX:111698312G>C uc004epo.1 + 3 797 c.356G>C c.(355-357)AGT>ACT p.S119T NM_001004308 NP_001004308 Q6ZR62 ZCH16_HUMAN zinc finger, CCHC domain containing 16 119 nucleic acid binding|zinc ion binding ovary(1) 1 CCTGACAAGAGTACCTTACTG 0.383 NA 18 184 0 0 0.00499 0 0 IL13RA2 3598 broad.mit.edu 37 X 114250291 114250291 + Missense_Mutation SNP T T A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chrX:114250291T>A uc004epx.2 - 3 313 c.188A>T c.(187-189)AAG>ATG p.K63M IL13RA2_uc010nqd.1_Missense_Mutation_p.K63M NM_000640 NP_000631 Q14627 I13R2_HUMAN interleukin 13 receptor, alpha 2 precursor 63 Extracellular (Potential).|Fibronectin type-III 1. extracellular space|integral to membrane|soluble fraction cytokine receptor activity upper_aerodigestive_tract(1)|ovary(1)|lung(1) 3 TGTGCATTCCTTAAAATGATC 0.408 NA 20 91 0 0 0.008871 0 0 UPF3B 65109 broad.mit.edu 37 X 118975155 118975155 + Nonsense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chrX:118975155C>A uc004erz.1 - 7 768 c.691G>T c.(691-693)GAA>TAA p.E231* UPF3B_uc004esa.1_Nonsense_Mutation_p.E231* NM_080632 NP_542199 Q9BZI7 REN3B_HUMAN UPF3 regulator of nonsense transcripts homolog B 231 Sufficient for association with EJC core.|Necessary for interaction with UPF2. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription cytosol|exon-exon junction complex|nucleoplasm mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding ovary(2)|kidney(1) 3 ctcctctcttcttctctttgt 0.144 NA 8 49 0.000274275 0.000316178 0.004482 1 0 THOC2 57187 broad.mit.edu 37 X 122765624 122765624 + Nonsense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chrX:122765624G>T uc004etu.2 - 22 2428 c.2396C>A c.(2395-2397)TCA>TAA p.S799* THOC2_uc011muh.1_Nonsense_Mutation_p.S724* NM_001081550 NP_001075019 Q8NI27 THOC2_HUMAN THO complex 2 799 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding ovary(3) 3 TACATCAATTGAAGGCACTCG 0.378 NA 28 311 3.1745e-13 5.33367e-13 0.008361 1 0 ODZ1 10178 broad.mit.edu 37 X 123515111 123515111 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chrX:123515111G>T uc004euj.2 - 31 7517 c.7453C>A c.(7453-7455)CAG>AAG p.Q2485K ODZ1_uc011muj.1_Missense_Mutation_p.Q2491K|ODZ1_uc010nqy.2_Missense_Mutation_p.Q2492K NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 2485 Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 TTCCTGAGCTGTTTCTGGAGT 0.478 NA 27 191 2.08457e-15 3.63486e-15 0.002096 1 0 DCAF12L2 340578 broad.mit.edu 37 X 125298776 125298776 + Missense_Mutation SNP G G A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chrX:125298776G>A uc004euk.1 - 1 1159 c.1132C>T c.(1132-1134)CGC>TGC p.R378C NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 378 WD 4. lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1) 7 TTCTGGGCGCGGATGTCATAG 0.642 NA 18 191 0 0 0.008871 0 0 RAB33A 9363 broad.mit.edu 37 X 129318306 129318306 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chrX:129318306G>T uc004evl.2 + 2 570 c.306G>T c.(304-306)ATG>ATT p.M102I RAB33A_uc010nre.2_RNA NM_004794 NP_004785 Q14088 RB33A_HUMAN Ras-related protein Rab-33A 102 M -> T. protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity|protein binding 0 GCAAAAGCATGGTCGAGCATT 0.478 NA 20 122 3.08376e-08 4.32352e-08 0.00333 1 0 PHF6 84295 broad.mit.edu 37 X 133527957 133527957 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chrX:133527957C>A uc004exj.2 + 5 595 c.393C>A c.(391-393)CAC>CAA p.H131Q PHF6_uc004exk.2_Missense_Mutation_p.H131Q|PHF6_uc011mvk.1_Missense_Mutation_p.H97Q|PHF6_uc004exh.2_Missense_Mutation_p.H131Q|PHF6_uc010nrr.2_Missense_Mutation_p.H131Q|PHF6_uc004exi.2_Missense_Mutation_p.H131Q NM_001015877 NP_001015877 Q8IWS0 PHF6_HUMAN PHD finger protein 6 isoform 1 131 Nuclear localization signal (Potential).|PHD-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(192;0.000127) GCCGAAAACACAAGAAAACTG 0.318 Colon(100;666 1493 6344 21231 35807) NA 22 103 2.79863e-10 4.31759e-10 0.004656 1 0 PHF6 84295 broad.mit.edu 37 X 133549067 133549067 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chrX:133549067C>A uc004exj.2 + 8 953 c.751C>A c.(751-753)CAG>AAG p.Q251K PHF6_uc004exk.2_Missense_Mutation_p.Q251K|PHF6_uc011mvk.1_Missense_Mutation_p.Q217K|PHF6_uc004exh.2_Missense_Mutation_p.Q252K|PHF6_uc010nrr.2_Missense_Mutation_p.Q251K|PHF6_uc004exi.2_Missense_Mutation_p.Q252K NM_001015877 NP_001015877 Q8IWS0 PHF6_HUMAN PHD finger protein 6 isoform 1 251 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(192;0.000127) TGGCACAGTCCAGCTCACAAC 0.328 Colon(100;666 1493 6344 21231 35807) NA 4 45 0.00024832 0.000288663 0.009096 1 0 DDX26B 203522 broad.mit.edu 37 X 134681099 134681099 + Missense_Mutation SNP T T A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chrX:134681099T>A uc004eyw.3 + 6 1014 c.651T>A c.(649-651)AAT>AAA p.N217K NM_182540 NP_872346 Q5JSJ4 DX26B_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 217 VWFA. 0 Acute lymphoblastic leukemia(192;6.56e-05) GAATGTTGAATCAATGTTTAG 0.328 NA 32 190 0 0 0.002836 0 0 MAGEC1 9947 broad.mit.edu 37 X 140993253 140993253 + Missense_Mutation SNP T T A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chrX:140993253T>A uc004fbt.2 + 4 349 c.63T>A c.(61-63)AGT>AGA p.S21R MAGEC1_uc010nsl.1_5'UTR NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 21 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) CCTCTGAGAGTCCTCAGAGTT 0.507 NA HNSCC(15;0.026) 20 148 0 0 0.010504 0 0 SLITRK4 139065 broad.mit.edu 37 X 142717965 142717965 + Silent SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chrX:142717965G>T uc004fbx.2 - 2 1336 c.960C>A c.(958-960)GCC>GCA p.A320A SLITRK4_uc004fby.2_Silent_p.A320A NM_173078 NP_775101 Q8IW52 SLIK4_HUMAN slit and trk like 4 protein precursor 320 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) GGTTGGAGAGGGCTTTGCCTG 0.468 NA 34 206 8.73648e-17 1.56954e-16 0.004289 1 0 SLITRK2 84631 broad.mit.edu 37 X 144906317 144906317 + Missense_Mutation SNP C C G rs148553713 TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chrX:144906317C>G uc004fcd.2 + 5 3364 c.2374C>G c.(2374-2376)CGC>GGC p.R792G SLITRK2_uc010nsp.2_Missense_Mutation_p.R792G|SLITRK2_uc010nso.2_Missense_Mutation_p.R792G|SLITRK2_uc011mwq.1_Missense_Mutation_p.R792G|SLITRK2_uc011mwr.1_Missense_Mutation_p.R792G|SLITRK2_uc011mws.1_Missense_Mutation_p.R792G|SLITRK2_uc004fcg.2_Missense_Mutation_p.R792G|SLITRK2_uc011mwt.1_Missense_Mutation_p.R792G|CXorf1_uc004fch.2_5'Flank NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 792 Cytoplasmic (Potential). integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) TGAATCTCGACGCCAAAACCA 0.453 NA 46 212 0 0 0.002852 0 0 MAMLD1 10046 broad.mit.edu 37 X 149638184 149638184 + Missense_Mutation SNP G G C TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chrX:149638184G>C uc004fee.1 + 3 415 c.339G>C c.(337-339)TTG>TTC p.L113F MAMLD1_uc011mxt.1_Missense_Mutation_p.L75F|MAMLD1_uc011mxu.1_Missense_Mutation_p.L88F|MAMLD1_uc011mxv.1_Missense_Mutation_p.L88F|MAMLD1_uc011mxw.1_Missense_Mutation_p.L40F NM_005491 NP_005482 Q13495 MAMD1_HUMAN mastermind-like domain containing 1 113 male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 Acute lymphoblastic leukemia(192;6.56e-05) TCCCTCCATTGACAATAAATC 0.493 NA 13 176 0 0 0.006122 0 0 MAMLD1 10046 broad.mit.edu 37 X 149638523 149638523 + Missense_Mutation SNP G G C TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chrX:149638523G>C uc004fee.1 + 3 754 c.678G>C c.(676-678)CAG>CAC p.Q226H MAMLD1_uc011mxt.1_Missense_Mutation_p.Q188H|MAMLD1_uc011mxu.1_Missense_Mutation_p.Q201H|MAMLD1_uc011mxv.1_Missense_Mutation_p.Q201H|MAMLD1_uc011mxw.1_Missense_Mutation_p.Q153H NM_005491 NP_005482 Q13495 MAMD1_HUMAN mastermind-like domain containing 1 226 male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 Acute lymphoblastic leukemia(192;6.56e-05) CTTCGGTTCAGATGTCACACT 0.517 NA 33 447 0 0 0.003271 0 0 MAMLD1 10046 broad.mit.edu 37 X 149638601 149638601 + Silent SNP G G A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chrX:149638601G>A uc004fee.1 + 3 832 c.756G>A c.(754-756)CAG>CAA p.Q252Q MAMLD1_uc011mxt.1_Silent_p.Q214Q|MAMLD1_uc011mxu.1_Silent_p.Q227Q|MAMLD1_uc011mxv.1_Silent_p.Q227Q|MAMLD1_uc011mxw.1_Silent_p.Q179Q NM_005491 NP_005482 Q13495 MAMD1_HUMAN mastermind-like domain containing 1 252 male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 Acute lymphoblastic leukemia(192;6.56e-05) TGTCACTTCAGATCCCATCCT 0.517 NA 19 312 0 0 0.003954 0 0 MAMLD1 10046 broad.mit.edu 37 X 149638622 149638622 + Silent SNP G G A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chrX:149638622G>A uc004fee.1 + 3 853 c.777G>A c.(775-777)GGG>GGA p.G259G MAMLD1_uc011mxt.1_Silent_p.G221G|MAMLD1_uc011mxu.1_Silent_p.G234G|MAMLD1_uc011mxv.1_Silent_p.G234G|MAMLD1_uc011mxw.1_Silent_p.G186G NM_005491 NP_005482 Q13495 MAMD1_HUMAN mastermind-like domain containing 1 259 male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 Acute lymphoblastic leukemia(192;6.56e-05) CCTCCACAGGGATCAGCTATT 0.527 NA 18 284 0 0 0.003954 0 0 MAMLD1 10046 broad.mit.edu 37 X 149638634 149638634 + Silent SNP G G A rs150886306 TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chrX:149638634G>A uc004fee.1 + 3 865 c.789G>A c.(787-789)TCG>TCA p.S263S MAMLD1_uc011mxt.1_Silent_p.S225S|MAMLD1_uc011mxu.1_Silent_p.S238S|MAMLD1_uc011mxv.1_Silent_p.S238S|MAMLD1_uc011mxw.1_Silent_p.S190S NM_005491 NP_005482 Q13495 MAMD1_HUMAN mastermind-like domain containing 1 263 male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 Acute lymphoblastic leukemia(192;6.56e-05) TCAGCTATTCGATTCCTTCCA 0.542 NA 19 257 0 0 0.004656 0 0 MAMLD1 10046 broad.mit.edu 37 X 149639226 149639226 + Missense_Mutation SNP G G C TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chrX:149639226G>C uc004fee.1 + 3 1457 c.1381G>C c.(1381-1383)GAG>CAG p.E461Q MAMLD1_uc011mxt.1_Missense_Mutation_p.E423Q|MAMLD1_uc011mxu.1_Missense_Mutation_p.E436Q|MAMLD1_uc011mxv.1_Missense_Mutation_p.E436Q|MAMLD1_uc011mxw.1_Missense_Mutation_p.E388Q NM_005491 NP_005482 Q13495 MAMD1_HUMAN mastermind-like domain containing 1 461 male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 Acute lymphoblastic leukemia(192;6.56e-05) CTATCGCCCAGAGAAGCTCTC 0.552 NA 22 225 0 0 0.00333 0 0 PASD1 139135 broad.mit.edu 37 X 150841005 150841005 + Silent SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chrX:150841005C>A uc004fev.3 + 14 2120 c.1788C>A c.(1786-1788)CCC>CCA p.P596P NM_173493 NP_775764 Q8IV76 PASD1_HUMAN PAS domain containing 1 596 nucleus signal transducer activity ovary(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) TATCTGTGCCCCTCTGCAATC 0.408 NA 13 121 0.00136819 0.00153046 0.001368 1 0 CNGA2 1260 broad.mit.edu 37 X 150912053 150912053 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chrX:150912053G>T uc004fey.1 + 7 1302 c.1078G>T c.(1078-1080)GGC>TGC p.G360C NM_005140 NP_005131 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 360 Helical; Name=H5; (Potential). response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) CTTCCTGATTGGCGTCCTCAT 0.512 NA 18 159 6.94344e-10 1.05165e-09 0.006122 1 0 MAGEA12 4111 broad.mit.edu 37 X 151899893 151899893 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chrX:151899893G>T uc010ntp.2 - 3 1262 c.908C>A c.(907-909)CCC>CAC p.P303H MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Missense_Mutation_p.P303H NM_005367 NP_005358 P43365 MAGAC_HUMAN melanoma antigen family A, 12 303 MAGE. skin(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) TTCATGCAGGGGTGGGTAGGA 0.567 NA 19 252 1.55795e-14 2.67168e-14 0.001882 1 0 SRPK3 26576 broad.mit.edu 37 X 153048470 153048470 + Silent SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chrX:153048470C>A uc004fil.2 + 7 677 c.645C>A c.(643-645)CCC>CCA p.P215P SRPK3_uc004fik.2_Silent_p.P281P|SRPK3_uc010nul.2_Silent_p.P173P|SRPK3_uc004fin.2_Silent_p.P215P|SRPK3_uc004fim.2_Silent_p.P215P NM_014370 NP_055185 Q9UPE1 SRPK3_HUMAN serine arginine rich protein-specific kinase 3 215 Protein kinase. cell differentiation|muscle organ development|muscle tissue development ATP binding|protein serine/threonine kinase activity p.P215H(1) pancreas(2)|lung(1) 3 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) ACATCAAGCCCGAGAACATCT 0.652 Esophageal Squamous(167;766 3400 32156) NA 13 112 4.3838e-07 5.84977e-07 0.001855 1 0 PDZD4 57595 broad.mit.edu 37 X 153069157 153069157 + Missense_Mutation SNP C C A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chrX:153069157C>A uc004fiz.1 - 8 2211 c.1961G>T c.(1960-1962)CGG>CTG p.R654L PDZD4_uc004fiy.1_Missense_Mutation_p.R579L|PDZD4_uc004fix.2_Missense_Mutation_p.R558L|PDZD4_uc004fja.1_Missense_Mutation_p.R660L|PDZD4_uc011mze.1_Missense_Mutation_p.R545L NM_032512 NP_115901 Q76G19 PDZD4_HUMAN PDZ domain containing 4 654 cell cortex breast(1) 1 all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCGCTCCTCCCGGATCTTCAG 0.652 NA 16 92 1.5739e-10 2.45552e-10 0.004007 1 0 MPP1 4354 broad.mit.edu 37 X 154007556 154007556 + Missense_Mutation SNP A A T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chrX:154007556A>T uc004fmp.1 - 12 1412 c.1297T>A c.(1297-1299)TCA>ACA p.S433T MPP1_uc010nvg.1_Missense_Mutation_p.S413T|MPP1_uc011mzv.1_Missense_Mutation_p.S403T|MPP1_uc004fmq.1_Missense_Mutation_p.S387T|MPP1_uc011mzw.1_Missense_Mutation_p.S416T NM_002436 NP_002427 Q00013 EM55_HUMAN palmitoylated membrane protein 1 433 Guanylate kinase-like.|Interaction with MPP5. regulation of neutrophil chemotaxis|signal transduction integral to plasma membrane|membrane fraction|stereocilium guanylate kinase activity|protein binding ovary(2)|central_nervous_system(1) 3 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TTGACCAGTGAGAGGTCAAAG 0.507 NA 18 135 0 0 0.002299 0 0 CYP1A1 1543 broad.mit.edu 37 15 75013022 75013022 + Frame_Shift_Del DEL G G - TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr15:75013022delG uc002ayp.3 - 7 1469 c.1347delC c.(1345-1347)ATCfs p.I449fs CYP1A1_uc010bjv.2_RNA|CYP1A1_uc010bjw.2_RNA|CYP1A1_uc010bju.2_Frame_Shift_Del_p.I185fs|CYP1A1_uc010bjx.2_Frame_Shift_Del_p.I185fs|CYP1A1_uc002ayq.3_Frame_Shift_Del_p.I449fs|CYP1A1_uc010bjy.2_Frame_Shift_Del_p.I420fs NM_000499 NP_000490 P04798 CP1A1_HUMAN cytochrome P450, family 1, subfamily A, 449 cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity ovary(2)|breast(2)|pancreas(1) 5 Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730) CCATGCCAAAGATAATCACCT 0.522 NA Endometrial_Cancer_Familial_Clustering_of|ACTH-independent_macronodular_adrenal_hyperplasia 21 238 --- --- --- --- NA NA NA NA NA RLTPR 146206 broad.mit.edu 37 16 67683455 67683455 + Frame_Shift_Del DEL G G - TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr16:67683455delG uc002etn.2 + 20 1972 c.1852delG c.(1852-1854)GGCfs p.G618fs RLTPR_uc010cel.1_Frame_Shift_Del_p.G611fs|RLTPR_uc010vjr.1_Frame_Shift_Del_p.G582fs NM_001013838 NP_001013860 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin 618 Tropomodulin-like.|LRR 14. breast(1) 1 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) GGATATCAGCGGCAACGCCAT 0.682 NA 7 77 --- --- --- --- NA NA NA NA NA MYBPC2 4606 broad.mit.edu 37 19 50957526 50957526 + Frame_Shift_Del DEL C C - TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr19:50957526delC uc002psf.2 + 18 1965 c.1914delC c.(1912-1914)GTCfs p.V638fs NM_004533 NP_004524 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 638 Ig-like C2-type 5. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) CTGCAGATGTCCCAGACCCCC 0.642 NA 10 74 --- --- --- --- NA NA NA NA NA SIGLEC6 946 broad.mit.edu 37 19 52023487 52023487 + Frame_Shift_Del DEL G G - TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr19:52023487delG uc002pwy.2 - 8 1373 c.1211delC c.(1210-1212)ACAfs p.T404fs SIGLEC6_uc002pwz.2_Frame_Shift_Del_p.T388fs|SIGLEC6_uc002pxa.2_Frame_Shift_Del_p.D345fs|SIGLEC6_uc010ydb.1_Frame_Shift_Del_p.T341fs|SIGLEC6_uc010ydc.1_Frame_Shift_Del_p.Q377fs|SIGLEC6_uc010eoz.1_Frame_Shift_Del_p.D323fs NM_001245 NP_001236 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 isoform 1 404 Cytoplasmic (Potential). cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus ovary(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) AACTATGCCTGTCTGGAACTG 0.502 NA 23 320 --- --- --- --- NA NA NA NA NA C20orf106 200232 broad.mit.edu 37 20 55100858 55100882 + Splice_Site DEL AGGAGCAGAGTCCTCCTGGCCTTCG AGGAGCAGAGTCCTCCTGGCCTTCG - TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 AGGAGCAGAGTCCTCCTGGCCTTCG AGGAGCAGAGTCCTCCTGGCCTTCG - - AGGAGCAGAGTCCTCCTGGCCTTCG AGGAGCAGAGTCCTCCTGGCCTTCG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr20:55100858_55100882delAGGAGCAGAGTCCTCCTGGCCTTCG uc002xxx.2 + 2 330 c.250_splice c.e2-1 p.E84_splice GCNT7_uc010zzg.1_5'UTR|C20orf107_uc010zzh.1_Intron NM_001012971 NP_001012989 Q5JX71 CT106_HUMAN hypothetical protein LOC200232 precursor integral to membrane 0 Colorectal(105;0.202) CTTTCCTGACAGGAGCAGAGTCCTCCTGGCCTTCGAGGCGGCCAA 0.356 NA 19 498 --- --- --- --- NA NA NA NA NA GALNTL2 117248 broad.mit.edu 37 3 16254176 16254176 + Frame_Shift_Del DEL C C - TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr3:16254176delC uc003car.3 + 6 1773 c.1298delC c.(1297-1299)ACCfs p.T433fs GALNTL2_uc003caq.3_Frame_Shift_Del_p.T166fs NM_054110 NP_473451 Q8N3T1 GLTL2_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 433 Lumenal (Potential). Golgi membrane|integral to membrane|transport vesicle polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(1) 1 CAGGAGGCCACCCTGAGGAAC 0.552 NA 39 165 --- --- --- --- NA NA NA NA NA UROC1 131669 broad.mit.edu 37 3 126220105 126220106 + Frame_Shift_Ins INS - - T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr3:126220105_126220106insT uc003eiz.1 - 10 952_953 c.920_921insA c.(919-921)AAGfs p.K307fs UROC1_uc010hsi.1_Frame_Shift_Ins_p.K367fs NM_144639 NP_653240 Q96N76 HUTU_HUMAN urocanase domain containing 1 isoform 1 307 histidine catabolic process cytosol urocanate hydratase activity ovary(1) 1 GBM - Glioblastoma multiforme(114;0.17) TGAGCACCTCCTTTTTTTTCCT 0.584 NA 8 375 --- --- --- --- NA NA NA NA NA ADD1 118 broad.mit.edu 37 4 2930188 2930190 + In_Frame_Del DEL AAG AAG - TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 AAG AAG - - AAG AAG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr4:2930188_2930190delAAG uc003gfr.2 + 15 2340_2342 c.2152_2154delAAG c.(2152-2154)AAGdel p.K721del ADD1_uc003gfn.2_RNA|ADD1_uc003gfo.2_3'UTR|ADD1_uc003gfp.2_3'UTR|ADD1_uc003gfq.2_In_Frame_Del_p.K752del|ADD1_uc003gfs.2_3'UTR NM_001119 NP_001110 P35611 ADDA_HUMAN adducin 1 (alpha) isoform a 721 Interaction with calmodulin (Potential). actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding cytosol|F-actin capping protein complex|nucleus|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CCCGTCCAAAAAGAAGAAGAAGT 0.626 Esophageal Squamous(71;505 1201 20414 34538 37449) NA 20 266 --- --- --- --- NA NA NA NA NA RNF144B 255488 broad.mit.edu 37 6 18399839 18399839 + Frame_Shift_Del DEL C C - TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chr6:18399839delC uc003ncs.2 + 2 378 c.74delC c.(73-75)GCCfs p.A25fs NM_182757 NP_877434 Q7Z419 R144B_HUMAN IBR domain containing 2 25 apoptosis|positive regulation of anti-apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process integral to membrane|mitochondrial membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding 0 Ovarian(93;0.00365)|Breast(50;0.0145) all_hematologic(90;0.0536) OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105) CTGGCTCCGGCCCCCCTCATC 0.537 NA 18 93 --- --- --- --- NA NA NA NA NA FAM47A 158724 broad.mit.edu 37 X 34149308 34149309 + Frame_Shift_Ins INS - - A TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 g.chrX:34149308_34149309insA uc004ddg.2 - 1 1120_1121 c.1087_1088insT c.(1087-1089)CGCfs p.R363fs NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 363 ovary(4)|central_nervous_system(1) 5 AGGCGCTAGGCGGAGACGGGAC 0.639 NA 11 84 --- --- --- --- NA NA NA NA NA KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 23398531-3f4c-45e6-980b-755165c04974 00df5c73-c2a7-47b4-8007-e7042ce81305 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) 6 16 NA NA NA NA 0.0293803 0.0304821 0.001984 1 1