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 HP1BP3 50809 broad.mit.edu 37 1 21074149 21074149 + Splice_Site SNP C C A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr1:21074149C>A uc001bdw.1 - 11 1282 c.1142_splice c.e11-1 p.M381_splice HP1BP3_uc001bdv.1_Splice_Site_p.M343_splice|HP1BP3_uc010odh.1_Splice_Site_p.M343_splice|HP1BP3_uc001bdy.1_Splice_Site_p.M381_splice|HP1BP3_uc010odf.1_Splice_Site_p.M40_splice|HP1BP3_uc010odg.1_Splice_Site_p.M229_splice NM_016287 NP_057371 Q5SSJ5 HP1B3_HUMAN HP1-BP74 nucleosome assembly nucleosome|nucleus DNA binding central_nervous_system(1)|skin(1) 2 all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201) AGCAAATGCACTGAAAAAAAA 0.383 NA 18 14 5.26018e-13 4.44693e-12 0.00188189 1 0 EIF4G3 8672 broad.mit.edu 37 1 21268753 21268753 + Missense_Mutation SNP C C G TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr1:21268753C>G uc001bec.2 - 9 982 c.726G>C c.(724-726)GAG>GAC p.E242D EIF4G3_uc010odi.1_5'UTR|EIF4G3_uc010odj.1_Missense_Mutation_p.E241D|EIF4G3_uc009vpz.2_Intron|EIF4G3_uc001bed.2_Missense_Mutation_p.E242D|EIF4G3_uc001bef.2_Missense_Mutation_p.E241D|EIF4G3_uc001bee.2_Missense_Mutation_p.E248D|EIF4G3_uc001beg.2_Missense_Mutation_p.E241D|EIF4G3_uc010odk.1_Missense_Mutation_p.E242D|EIF4G3_uc001beh.2_Missense_Mutation_p.E253D NM_003760 NP_003751 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 242 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity skin(1) 1 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) GTTCTTTCTTCTCTCCACTGA 0.438 NA 3 122 0 0 6.4e-05 0 0 USP24 23358 broad.mit.edu 37 1 55548983 55548983 + Missense_Mutation SNP T T A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr1:55548983T>A uc001cyg.3 - 55 6457 c.6457A>T c.(6457-6459)ATC>TTC p.I2153F NM_015306 NP_056121 Q9UPU5 UBP24_HUMAN ubiquitin specific protease 24 2313 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(6)|kidney(6)|breast(1) 13 AGGAAGCTGATCATGTGCCGC 0.428 NA 5 34 0 0 0.000602214 0 0 TMEM56 148534 broad.mit.edu 37 1 95615786 95615786 + Missense_Mutation SNP G G A rs147035436 TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr1:95615786G>A uc001drb.2 + 4 559 c.268G>A c.(268-270)GTG>ATG p.V90M RWDD3_uc001drd.3_Missense_Mutation_p.V90M|TMEM56_uc001drc.2_Missense_Mutation_p.V90M NM_152487 NP_689700 Q96MV1 TMM56_HUMAN transmembrane protein 56 90 TLC.|Helical; (Potential). integral to membrane 0 all_lung(203;0.0232)|Lung NSC(277;0.0739) all cancers(265;0.133) ACTTGCAAACGTGAATATTGC 0.333 NA 6 33 0 0 0.000274275 0 0 PHTF1 10745 broad.mit.edu 37 1 114255907 114255907 + Silent SNP G G A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr1:114255907G>A uc009wgp.1 - 7 1229 c.777C>T c.(775-777)TGC>TGT p.C259C PHTF1_uc001edn.2_Silent_p.C259C|PHTF1_uc010own.1_Silent_p.C259C|PHTF1_uc001edm.2_Silent_p.C16C|PHTF1_uc001edo.1_Silent_p.C16C NM_006608 NP_006599 Q9UMS5 PHTF1_HUMAN putative homeodomain transcription factor 1 259 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TTACCCTACGGCACTTTTCTC 0.363 NA 30 50 0 0 0.000491102 0 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr1:145302714A>G uc001end.3 + 8 1187 c.1152A>G c.(1150-1152)TTA>TTG p.L384L NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_5'UTR|NBPF10_uc001emq.1_Silent_p.L113L NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGGAGAAGTTACGGGAAGGGA 0.527 NA 4 64 0 0 0.00024832 0 0 C1orf56 54964 broad.mit.edu 37 1 151020753 151020753 + Missense_Mutation SNP C C A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr1:151020753C>A uc001ewn.2 + 1 495 c.430C>A c.(430-432)CAG>AAG p.Q144K NM_017860 NP_060330 Q9BUN1 CA056_HUMAN hypothetical protein LOC54964 precursor 144 extracellular region 0 Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) AGCCAATAGTCAGGAGCCTGA 0.592 GBM(146;891 3320 6873) NA OREG0013793 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 38 3.45872e-05 0.000225607 0.000422831 1 0 TCHHL1 126637 broad.mit.edu 37 1 152058248 152058248 + Missense_Mutation SNP C C A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr1:152058248C>A uc001ezo.1 - 3 1975 c.1910G>T c.(1909-1911)GGC>GTC p.G637V NM_001008536 NP_001008536 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 637 calcium ion binding ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) GGTCCCTGGGCCTTGATTCTT 0.542 NA 29 76 1.12875e-08 8.19461e-08 0.00106085 1 0 RPTN 126638 broad.mit.edu 37 1 152127903 152127904 + Missense_Mutation DNP GG GG TT TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr1:152127903_152127904GG>TT uc001ezs.1 - 3 1736_1737 c.1671_1672CC>AA c.(1669-1674)TCCCAC>TCAAAC p.H558N NM_001122965 NP_001116437 Q6XPR3 RPTN_HUMAN repetin 558 Gln-rich. proteinaceous extracellular matrix calcium ion binding 0 TGACCGTAGTGGGAACTCTGGC 0.51 NA 15 842 0 0 6.4e-05 0 0 CRNN 49860 broad.mit.edu 37 1 152382356 152382356 + Missense_Mutation SNP C C T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr1:152382356C>T uc001ezx.2 - 3 1276 c.1202G>A c.(1201-1203)GGA>GAA p.G401E NM_016190 NP_057274 Q9UBG3 CRNN_HUMAN cornulin 401 cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding ovary(2)|skin(1) 3 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GGCCTGTCCTCCCGGTACTGT 0.612 NA 29 58 0 0 0.000339439 0 0 NPR1 4881 broad.mit.edu 37 1 153655879 153655879 + Missense_Mutation SNP C C A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr1:153655879C>A uc001fcs.3 + 6 1712 c.1291C>A c.(1291-1293)CAA>AAA p.Q431K NPR1_uc010pdz.1_Missense_Mutation_p.Q177K|NPR1_uc010pea.1_5'Flank NM_000906 NP_000897 P16066 ANPRA_HUMAN natriuretic peptide receptor 1 precursor 431 Extracellular (Potential). body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity ovary(3)|lung(2)|stomach(1)|breast(1) 7 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) TGGGACTTCCCAAGAGCTGGT 0.592 Pancreas(141;1349 1870 15144 15830 40702) NA 15 25 3.45872e-05 0.000225607 0.000422831 1 0 SYT11 23208 broad.mit.edu 37 1 155838433 155838433 + Missense_Mutation SNP C C A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr1:155838433C>A uc001fmg.2 + 2 975 c.712C>A c.(712-714)CAG>AAG p.Q238K SYT11_uc010pgq.1_Intron NM_152280 NP_689493 Q9BT88 SYT11_HUMAN synaptotagmin XI 238 Cytoplasmic (Potential).|C2 1. cell junction|synaptic vesicle membrane protein binding|transporter activity ovary(1)|skin(1) 2 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;0.000162) CAGCCAGCTGCAGGACCTGGT 0.587 NA 18 39 1.67942e-08 1.21239e-07 0.00074312 1 0 PYHIN1 149628 broad.mit.edu 37 1 158914690 158914690 + Missense_Mutation SNP G G A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr1:158914690G>A uc001ftb.2 + 7 1462 c.1217G>A c.(1216-1218)AGC>AAC p.S406N PYHIN1_uc001ftc.2_Missense_Mutation_p.S397N|PYHIN1_uc001ftd.2_Missense_Mutation_p.S406N|PYHIN1_uc001fte.2_Missense_Mutation_p.S397N NM_152501 NP_689714 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 alpha 1 406 cell cycle nuclear speck ovary(3)|pancreas(1) 4 all_hematologic(112;0.0378) AACCAGAGAAGCCATGACTCC 0.388 NA 6 56 0 0 0.00116845 0 0 OR10J3 441911 broad.mit.edu 37 1 159284209 159284209 + Missense_Mutation SNP G G T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr1:159284209G>T uc010piu.1 - 1 241 c.241C>A c.(241-243)CAT>AAT p.H81N NM_001004467 NP_001004467 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, 81 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 all_hematologic(112;0.0429) GAAAGCATATGGGGAATGATG 0.493 NA 40 84 9.39024e-22 9.00482e-21 0.000437636 1 0 DEDD 9191 broad.mit.edu 37 1 161092140 161092140 + Missense_Mutation SNP C C T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr1:161092140C>T uc001fxz.2 - 6 927 c.754G>A c.(754-756)GAG>AAG p.E252K NIT1_uc001fxw.2_Intron|DEDD_uc009wty.2_Missense_Mutation_p.E282K|DEDD_uc001fya.2_Missense_Mutation_p.E252K|DEDD_uc001fyb.2_Missense_Mutation_p.E252K|DEDD_uc010pkb.1_Missense_Mutation_p.E209K|DEDD_uc001fyc.2_Missense_Mutation_p.E92K NM_001039712 NP_001034801 O75618 DEDD_HUMAN death effector domain-containing protein 252 apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding 0 all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) TAGGTGAGCTCAGAGAACTTG 0.517 NA 10 93 0 0 0.00185496 0 0 RASAL2 9462 broad.mit.edu 37 1 178426849 178426849 + Missense_Mutation SNP G G T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr1:178426849G>T uc001glr.2 + 12 2124 c.1999G>T c.(1999-2001)GAC>TAC p.D667Y RASAL2_uc001glq.2_Missense_Mutation_p.D808Y|RASAL2_uc009wxc.2_Missense_Mutation_p.D181Y NM_004841 NP_004832 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 isoform 1 667 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity ovary(2)|breast(2)|large_intestine(1) 5 TCCAAGCCAGGACAACACAGA 0.408 NA 23 51 1.10923e-09 8.33545e-09 0.000375601 1 0 HMCN1 83872 broad.mit.edu 37 1 186064585 186064585 + Missense_Mutation SNP G G T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr1:186064585G>T uc001grq.1 + 68 10734 c.10505G>T c.(10504-10506)GGA>GTA p.G3502V NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 3502 Ig-like C2-type 33. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 GAAGATTCGGGAAAGTACACC 0.478 NA 26 67 1.7881e-09 1.33588e-08 0.001512 1 0 ASPM 259266 broad.mit.edu 37 1 197069976 197069976 + Missense_Mutation SNP C C A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr1:197069976C>A uc001gtu.2 - 18 8662 c.8405G>T c.(8404-8406)GGC>GTC p.G2802V ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.G650V NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 2802 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 ACAAGCAAGGCCAGAAGCTTT 0.383 NA 47 114 1.81118e-26 1.79028e-25 0.000781405 1 0 PTPRC 5788 broad.mit.edu 37 1 198685924 198685924 + Missense_Mutation SNP C C A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr1:198685924C>A uc001gur.1 + 13 1579 c.1399C>A c.(1399-1401)CGT>AGT p.R467S PTPRC_uc001gus.1_Missense_Mutation_p.R419S|PTPRC_uc001gut.1_Missense_Mutation_p.R306S|PTPRC_uc009wzf.1_Missense_Mutation_p.R355S|PTPRC_uc010ppg.1_Missense_Mutation_p.R403S NM_002838 NP_002829 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 467 Extracellular (Potential).|Fibronectin type-III 1. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1) 12 AAAAGTGCAACGTAATGGAAG 0.308 NA 16 37 0.000422831 0.00262482 0.000422831 1 0 CNTN2 6900 broad.mit.edu 37 1 205033553 205033553 + Silent SNP C C T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr1:205033553C>T uc001hbr.2 + 11 1613 c.1344C>T c.(1342-1344)GCC>GCT p.A448A CNTN2_uc001hbq.1_Silent_p.A339A|CNTN2_uc001hbs.2_Silent_p.A236A NM_005076 NP_005067 Q02246 CNTN2_HUMAN contactin 2 precursor 448 Ig-like C2-type 5. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding ovary(1) 1 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CTCCAAAGGCCGTGGTGCTCT 0.637 Melanoma(183;2548 2817 37099 41192) NA 38 104 0 0 0.00170553 0 0 MFSD4 148808 broad.mit.edu 37 1 205550012 205550012 + Missense_Mutation SNP G G T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr1:205550012G>T uc001hcv.3 + 3 739 c.653G>T c.(652-654)CGA>CTA p.R218L MFSD4_uc010prk.1_Intron|MFSD4_uc010prl.1_RNA|MFSD4_uc010prm.1_Missense_Mutation_p.R163L NM_181644 NP_857595 Q8N468 MFSD4_HUMAN major facilitator superfamily domain containing 218 transmembrane transport integral to membrane skin(2)|central_nervous_system(1) 3 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) GCAGGGACCCGAGTGTCCTAT 0.607 NA 15 23 4.14922e-12 3.39602e-11 0.000422831 1 0 CENPF 1063 broad.mit.edu 37 1 214814317 214814317 + Missense_Mutation SNP C C A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr1:214814317C>A uc001hkm.2 + 12 2810 c.2636C>A c.(2635-2637)GCT>GAT p.A879D NM_016343 NP_057427 P49454 CENPF_HUMAN centromere protein F 879 Potential. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1) 13 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) AGTTTTGTGGCTGAAACAAGT 0.408 Colon(80;575 1284 11000 14801 43496) NA 6 80 0.00116845 0.00711589 0.00116845 1 0 CENPF 1063 broad.mit.edu 37 1 214832299 214832299 + Silent SNP C C T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr1:214832299C>T uc001hkm.2 + 19 9243 c.9069C>T c.(9067-9069)TCC>TCT p.S3023S NM_016343 NP_057427 P49454 CENPF_HUMAN centromere protein F 3119 cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1) 13 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) TAGCGCTATCCCCACTGAGTC 0.522 Colon(80;575 1284 11000 14801 43496) NA OREG0014250 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 36 83 0 0 0.000814825 0 0 RYR2 6262 broad.mit.edu 37 1 237777844 237777844 + Missense_Mutation SNP G G T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr1:237777844G>T uc001hyl.1 + 37 5536 c.5416G>T c.(5416-5418)GCC>TCC p.A1806S NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1806 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CAGTCTTCATGCCCGGGACCC 0.468 NA 63 157 6.26901e-30 6.49652e-29 0.000781405 1 0 RYR2 6262 broad.mit.edu 37 1 237947592 237947592 + Nonsense_Mutation SNP G G T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr1:237947592G>T uc001hyl.1 + 90 12700 c.12580G>T c.(12580-12582)GAG>TAG p.E4194* RYR2_uc010pya.1_Nonsense_Mutation_p.E609* NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4194 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) GAACTTCTGCGAGGACACCAT 0.512 NA 35 99 9.45814e-24 9.13813e-23 0.000953801 1 0 NLRP3 114548 broad.mit.edu 37 1 247588388 247588388 + Missense_Mutation SNP G G T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr1:247588388G>T uc001icr.2 + 5 1781 c.1643G>T c.(1642-1644)GGG>GTG p.G548V NLRP3_uc001ics.2_Missense_Mutation_p.G548V|NLRP3_uc001icu.2_Missense_Mutation_p.G548V|NLRP3_uc001icw.2_Missense_Mutation_p.G548V|NLRP3_uc001icv.2_Missense_Mutation_p.G548V|NLRP3_uc010pyw.1_Missense_Mutation_p.G546V|NLRP3_uc001ict.1_Missense_Mutation_p.G546V NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 548 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) AACGTTCCAGGGAGTCGTTTG 0.463 NA 21 38 1.96292e-10 1.53802e-09 0.00152264 1 0 OR2T34 127068 broad.mit.edu 37 1 248737440 248737440 + Missense_Mutation SNP A A T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr1:248737440A>T uc001iep.1 - 1 619 c.619T>A c.(619-621)TGC>AGC p.C207S NM_001001821 NP_001001821 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, 207 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AGGATGCAGCACAGGTACGTG 0.532 NA 21 354 0 0 0.000295444 0 0 PGBD2 267002 broad.mit.edu 37 1 249211989 249211989 + Silent SNP C C A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr1:249211989C>A uc001ifh.2 + 3 1353 c.1206C>A c.(1204-1206)GTC>GTA p.V402V PGBD2_uc001ifg.2_Silent_p.V151V|PGBD2_uc009xhd.2_Silent_p.V399V NM_170725 NP_733843 Q6P3X8 PGBD2_HUMAN hypothetical protein LOC267002 isoform a 402 ovary(1) 1 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;0.012) OV - Ovarian serous cystadenocarcinoma(106;0.00989) ATTACAAAGTCGATGAGAGTG 0.498 NA 10 67 7.48243e-07 5.16931e-06 0.000442599 1 0 FBXO18 84893 broad.mit.edu 37 10 5948591 5948591 + Missense_Mutation SNP C C A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr10:5948591C>A uc001iis.2 + 3 844 c.749C>A c.(748-750)CCG>CAG p.P250Q FBXO18_uc001iir.2_Missense_Mutation_p.P176Q|FBXO18_uc009xig.2_Missense_Mutation_p.P176Q|FBXO18_uc001iit.2_Missense_Mutation_p.P301Q NM_178150 NP_835363 Q8NFZ0 FBX18_HUMAN F-box only protein, helicase, 18 isoform 2 250 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(2)|skin(1) 3 ATCAGTGACCCGCTGGTGAGT 0.498 NA 4 66 0.000602214 0.00370261 0.000602214 1 0 FRMD4A 55691 broad.mit.edu 37 10 13779862 13779862 + Silent SNP A A G TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr10:13779862A>G uc001ims.2 - 12 1093 c.741T>C c.(739-741)GAT>GAC p.D247D FRMD4A_uc009xjf.1_Silent_p.D247D|FRMD4A_uc001imt.1_Silent_p.D280D|FRMD4A_uc001imu.1_Silent_p.D263D NM_018027 NP_060497 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A 247 FERM. cytoplasm|cytoskeleton binding ovary(1)|skin(1)|pancreas(1) 3 GCTTCACTTTATCATGGTAGT 0.458 NA 6 36 0 0 0.000274275 0 0 SLC39A12 221074 broad.mit.edu 37 10 18280116 18280116 + Missense_Mutation SNP G G T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr10:18280116G>T uc001ipo.2 + 8 1579 c.1306G>T c.(1306-1308)GGG>TGG p.G436W SLC39A12_uc001ipn.2_Missense_Mutation_p.G436W|SLC39A12_uc001ipp.2_Missense_Mutation_p.G436W|SLC39A12_uc010qck.1_Missense_Mutation_p.G302W NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), 436 Cytoplasmic (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1)|breast(1) 2 CCCAGAATTTGGGCATTTCCA 0.358 NA 48 72 1.07234e-20 1.01321e-19 0.000781405 1 0 PTCHD3 374308 broad.mit.edu 37 10 27703133 27703133 + Missense_Mutation SNP G G T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr10:27703133G>T uc001itu.2 - 1 165 c.47C>A c.(46-48)CCC>CAC p.P16H NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN patched domain containing 3 16 spermatid development integral to membrane hedgehog receptor activity ovary(2)|pancreas(1)|skin(1) 4 GGTGAGCTTGGGCTTCTGCTC 0.642 NA 18 68 7.45023e-12 5.9463e-11 0.00152264 1 0 PCDH15 65217 broad.mit.edu 37 10 55663078 55663078 + Silent SNP T T C TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr10:55663078T>C uc001jju.1 - 26 3821 c.3426A>G c.(3424-3426)CCA>CCG p.P1142P PCDH15_uc010qhq.1_Silent_p.P1147P|PCDH15_uc010qhr.1_Silent_p.P1142P|PCDH15_uc010qhs.1_Silent_p.P1154P|PCDH15_uc010qht.1_Silent_p.P1149P|PCDH15_uc010qhu.1_Silent_p.P1142P|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Silent_p.P1142P|PCDH15_uc010qhw.1_Silent_p.P1105P|PCDH15_uc010qhx.1_Silent_p.P1071P|PCDH15_uc010qhy.1_Silent_p.P1147P|PCDH15_uc010qhz.1_Silent_p.P1142P|PCDH15_uc010qia.1_Silent_p.P1120P|PCDH15_uc010qib.1_Silent_p.P1120P NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1142 Cadherin 10.|Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) TCTGAAACACTGGGGGATGAT 0.368 NA HNSCC(58;0.16) 5 64 0 0 0.00116845 0 0 CCKBR 887 broad.mit.edu 37 11 6291510 6291510 + Missense_Mutation SNP G G T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr11:6291510G>T uc001mcp.2 + 3 789 c.596G>T c.(595-597)GGG>GTG p.G199V CCKBR_uc001mcq.2_Missense_Mutation_p.G127V|CCKBR_uc001mcr.2_Missense_Mutation_p.G199V|CCKBR_uc001mcs.2_Missense_Mutation_p.G199V|CCKBR_uc001mct.1_5'Flank NM_176875 NP_795344 P32239 GASR_HUMAN cholecystokinin B receptor 199 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding lung(5)|ovary(2)|breast(1) 8 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) CAACCAGTGGGGCCTCGTGTG 0.627 NA 35 54 2.47316e-13 2.1473e-12 0.00058488 1 0 RRP8 23378 broad.mit.edu 37 11 6622684 6622684 + Silent SNP T T A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr11:6622684T>A uc001med.2 - 3 691 c.612A>T c.(610-612)CCA>CCT p.P204P ILK_uc001mee.2_5'Flank|ILK_uc001mef.2_5'Flank|ILK_uc010rap.1_5'Flank|ILK_uc010raq.1_5'Flank|ILK_uc001meg.2_5'Flank|ILK_uc001meh.2_5'Flank NM_015324 NP_056139 O43159 RRP8_HUMAN ribosomal RNA processing 8, methyltransferase, 204 chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity 0 GCACCTGAGGTGGCTGAAACT 0.582 NA 21 45 0 0 0.00152264 0 0 STK33 65975 broad.mit.edu 37 11 8435086 8435086 + Missense_Mutation SNP C C T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr11:8435086C>T uc001mgi.1 - 11 2219 c.1300G>A c.(1300-1302)GTC>ATC p.V434I STK33_uc001mgj.1_Missense_Mutation_p.V434I|STK33_uc001mgk.1_Missense_Mutation_p.V434I|STK33_uc010rbn.1_Missense_Mutation_p.V393I|STK33_uc001mgl.3_Missense_Mutation_p.V247I NM_030906 NP_112168 Q9BYT3 STK33_HUMAN serine/threonine kinase 33 434 Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein serine/threonine kinase activity ovary(2)|lung(2)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239) GCATCAGGGACATTTCCCCAG 0.418 NA 37 195 0 0 0.000781405 0 0 METT5D1 196074 broad.mit.edu 37 11 28135017 28135017 + Missense_Mutation SNP C C T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr11:28135017C>T uc001msh.2 + 3 591 c.136C>T c.(136-138)CGG>TGG p.R46W METT5D1_uc001msg.2_Missense_Mutation_p.R46W|METT5D1_uc001mse.2_Missense_Mutation_p.R46W|METT5D1_uc001msf.1_RNA NM_001113528 NP_001107000 A6NJ78 MET15_HUMAN methyltransferase 5 domain containing 1 isoform 46 methyltransferase activity 0 ATATGAAGCCCGGGAGCAAAC 0.388 NA 18 35 0 0 0.000566183 0 0 OR5I1 10798 broad.mit.edu 37 11 55703675 55703675 + Silent SNP G G A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr11:55703675G>A uc010ris.1 - 1 202 c.202C>T c.(202-204)CTA>TTA p.L68L NM_006637 NP_006628 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, 68 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 ACAAATGATAGGTTGCTAAGG 0.393 NA 9 43 0 0 0.000442599 0 0 OR10AG1 282770 broad.mit.edu 37 11 55735562 55735562 + Silent SNP C C A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr11:55735562C>A uc010rit.1 - 1 378 c.378G>T c.(376-378)GTG>GTT p.V126V NM_001005491 NP_001005491 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, 126 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.0137) TGTGGTTCATCACTAGAGGAT 0.438 NA 13 49 0.00010058 0.000630464 0.00136819 1 0 OR5F1 338674 broad.mit.edu 37 11 55761571 55761571 + Missense_Mutation SNP G G T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr11:55761571G>T uc010riv.1 - 1 531 c.531C>A c.(529-531)TTC>TTA p.F177L NM_003697 NP_003688 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, 177 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Esophageal squamous(21;0.00448) TGTCACAGAAGAAGTGATGGA 0.473 NA 23 64 4.72057e-08 3.33293e-07 0.000586117 1 0 OR8J3 81168 broad.mit.edu 37 11 55904930 55904930 + Missense_Mutation SNP T T C TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr11:55904930T>C uc010riz.1 - 1 265 c.265A>G c.(265-267)AAG>GAG p.K89E NM_001004064 NP_001004064 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, 89 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.00693) GTAGTTTTCTTCTTTACTAAA 0.418 NA 36 104 0 0 0.000692331 0 0 OR5T2 219464 broad.mit.edu 37 11 55999864 55999864 + Missense_Mutation SNP C C G TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr11:55999864C>G uc010rjc.1 - 1 798 c.798G>C c.(796-798)AAG>AAC p.K266N NM_001004746 NP_001004746 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, 266 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) CAGAATACATCTTCAGAATGG 0.433 NA 26 115 0 0 0.00106085 0 0 KLHL35 283212 broad.mit.edu 37 11 75134888 75134888 + Missense_Mutation SNP G G T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr11:75134888G>T uc001owm.1 - 5 970 c.751C>A c.(751-753)CTG>ATG p.L251M NM_001039548 NP_001034637 Q6PF15 KLH35_HUMAN kelch-like 35 251 Kelch 4. 0 GGTGACCGCAGGCTCCACCGG 0.602 Colon(77;683 1691 18820 23811) NA 22 38 1.50039e-11 1.19012e-10 0.00188189 1 0 ATM 472 broad.mit.edu 37 11 108236220 108236220 + Missense_Mutation SNP G G C TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr11:108236220G>C uc001pkb.1 + 63 9541 c.9156G>C c.(9154-9156)TGG>TGC p.W3052C ATM_uc009yxr.1_Missense_Mutation_p.W3052C|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.W1704C NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 3052 FATC. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) TCCCAGGATGGAAAGCTTGGG 0.408 NA D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) 11 17 0 0 0.00136819 0 0 OR8B3 390271 broad.mit.edu 37 11 124266588 124266588 + Silent SNP G G A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr11:124266588G>A uc010saj.1 - 1 660 c.660C>T c.(658-660)TTC>TTT p.F220F OR8B2_uc001qab.3_Intron NM_001005467 NP_001005467 Q8NGG8 OR8B3_HUMAN olfactory receptor, family 8, subfamily B, 220 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) TAGTGACAATGAAAACATAAG 0.403 NA 39 137 0 0 0.000781405 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128840287 128840287 + Missense_Mutation SNP C C A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr11:128840287C>A uc009zcp.2 - 22 4779 c.4779G>T c.(4777-4779)ATG>ATT p.M1593I ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.M552I|ARHGAP32_uc001qez.2_Missense_Mutation_p.M1244I NM_001142685 NP_001136157 A7KAX9 RHG32_HUMAN Rho GTPase-activating protein isoform 1 1593 Interaction with GAB2. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding lung(3)|ovary(2) 5 CAGAGCGAATCATGGAAGACG 0.532 NA 6 37 6.5536e-12 5.29646e-11 0.000157383 1 0 B3GAT1 27087 broad.mit.edu 37 11 134253972 134253972 + Silent SNP G G T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr11:134253972G>T uc001qhq.2 - 4 484 c.223C>A c.(223-225)CGG>AGG p.R75R B3GAT1_uc001qhr.2_Silent_p.R75R|B3GAT1_uc010scv.1_Silent_p.R88R NM_018644 NP_061114 Q9P2W7 B3GA1_HUMAN beta-1,3-glucuronyltransferase 1 75 Lumenal (Potential). carbohydrate metabolic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding ovary(1) 1 all_hematologic(175;0.127) all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559) Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864) GGCGGGGGCCGCGTGTACACG 0.701 NA 5 5 1.23904e-05 8.24957e-05 0.000602214 1 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C G rs121913529 TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr12:25398284C>G uc001rgp.1 - 2 216 c.35G>C c.(34-36)GGT>GCT p.G12A KRAS_uc001rgq.1_Missense_Mutation_p.G12A|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.G12N(6)|p.G12G(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) GCCTACGCCACCAGCTCCAAC 0.348 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 14 14 0 0 0.000308642 0 0 ITPR2 3709 broad.mit.edu 37 12 26868257 26868257 + Missense_Mutation SNP C C A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr12:26868257C>A uc001rhg.2 - 8 1247 c.830G>T c.(829-831)AGT>ATT p.S277I NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 277 Cytoplasmic (Potential).|MIR 3. activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) TGCTTTAGAACTAGTAGCAGA 0.358 NA 14 146 1.37285e-15 1.22508e-14 0.000422831 1 0 NACA 4666 broad.mit.edu 37 12 57108218 57108218 + Silent SNP C C G TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr12:57108218C>G uc001slz.2 - 4 511 c.162G>C c.(160-162)GCG>GCC p.A54A NACA_uc001sly.2_Silent_p.A54A|NACA_uc009zoy.1_Silent_p.A1917A|NACA_uc001smc.2_Silent_p.A54A|NACA_uc001sma.2_Silent_p.A764A|NACA_uc001smb.2_Silent_p.A54A|NACA_uc010squ.1_RNA NM_001113201 NP_001106672 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha 54 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding ovary(1) 1 CAGCTGCTGCCGCCAGCTAAG 0.408 NA T BCL6 NHL 17 50 0 0 0.000958276 0 0 PPM1H 57460 broad.mit.edu 37 12 63225927 63225927 + Silent SNP G G A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr12:63225927G>A uc001srk.3 - 2 527 c.378C>T c.(376-378)CCC>CCT p.P126P NM_020700 NP_065751 Q9ULR3 PPM1H_HUMAN protein phosphatase 1H (PP2C domain containing) 126 phosphoprotein phosphatase activity lung(3)|ovary(1) 4 GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209) GBM - Glioblastoma multiforme(28;0.0126) CTTCCCCATTGGGAAGGGAGG 0.552 NA 7 18 0 0 8.12818e-05 0 0 AVPR1A 552 broad.mit.edu 37 12 63541299 63541299 + Missense_Mutation SNP C C A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr12:63541299C>A uc001sro.1 - 2 3071 c.1097G>T c.(1096-1098)TGC>TTC p.C366F NM_000706 NP_000697 P37288 V1AR_HUMAN arginine vasopressin receptor 1A 366 Cytoplasmic (Potential). activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity 0 BRCA - Breast invasive adenocarcinoma(9;0.193) GBM - Glioblastoma multiforme(28;0.0569) Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067) CATGTTTTGGCAGCATGGGAA 0.403 NA 34 86 2.08457e-15 1.84736e-14 0.000339439 1 0 C12orf24 29902 broad.mit.edu 37 12 110925706 110925706 + Silent SNP C C T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr12:110925706C>T uc001tqu.3 + 6 1110 c.661C>T c.(661-663)CTG>TTG p.L221L C12orf24_uc001tqt.2_RNA|C12orf24_uc001tqv.3_RNA|C12orf24_uc009zvp.2_RNA NM_013300 NP_037432 Q8WUB2 CL024_HUMAN hypothetical protein LOC29902 221 0 ATGTAAGTCACTGAAGATTTT 0.333 NA 22 84 0 0 0.001512 0 0 KIAA0564 23078 broad.mit.edu 37 13 42273408 42273408 + Splice_Site SNP T T A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr13:42273408T>A uc001uyj.2 - 29 3435 c.3365_splice c.e29-1 p.E1122_splice NM_015058 NP_055873 A3KMH1 K0564_HUMAN hypothetical protein LOC23078 isoform a extracellular region ATP binding|ATPase activity ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1) 6 Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969) GCTCATTTTCTGAAATGACAA 0.383 NA 48 36 0 0 0.000781405 0 0 RNASE4 6038 broad.mit.edu 37 14 21167901 21167901 + Missense_Mutation SNP C C G TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr14:21167901C>G uc001vxy.3 + 2 934 c.371C>G c.(370-372)GCC>GGC p.A124G RNASE4_uc001vxx.3_RNA|RNASE4_uc001vya.2_Missense_Mutation_p.A124G NM_002937 NP_002928 P34096 RNAS4_HUMAN ribonuclease, RNase A family, 4 precursor 124 mRNA cleavage extracellular region nucleic acid binding|pancreatic ribonuclease activity central_nervous_system(1) 1 all_cancers(95;0.00304) Epithelial(56;5.13e-07)|all cancers(55;4.73e-06) GBM - Glioblastoma multiforme(265;0.0133) AGATATCGGGCCATAGCGAGC 0.532 Esophageal Squamous(59;1059 1362 26290 51151) NA 4 148 0 0 0.00024832 0 0 DACT1 51339 broad.mit.edu 37 14 59113448 59113448 + Missense_Mutation SNP G G C TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr14:59113448G>C uc001xdw.2 + 4 2271 c.2107G>C c.(2107-2109)GGG>CGG p.G703R DACT1_uc010trv.1_Missense_Mutation_p.G422R|DACT1_uc001xdx.2_Missense_Mutation_p.G666R|DACT1_uc010trw.1_Missense_Mutation_p.G422R NM_016651 NP_057735 Q9NYF0 DACT1_HUMAN dapper 1 isoform 1 703 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus large_intestine(2)|lung(2)|ovary(1) 5 GGAGAATGTGGGGCTGTACCC 0.662 NA 9 26 0 0 0.000442599 0 0 SEL1L 6400 broad.mit.edu 37 14 81950604 81950604 + Nonsense_Mutation SNP C C A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr14:81950604C>A uc010tvv.1 - 19 2128 c.2011G>T c.(2011-2013)GGA>TGA p.G671* NM_005065 NP_005056 Q9UBV2 SE1L1_HUMAN sel-1 suppressor of lin-12-like precursor 671 Lumenal (Potential).|Interaction with ERLEC1, OS9 and SYVN1.|Sel1-like 11. Notch signaling pathway endoplasmic reticulum membrane|integral to membrane protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.0299) TGCATATATCCCAGATTAAAC 0.403 NA 158 322 5.63857e-76 6.08871e-75 0.000781405 1 0 SERPINA3 12 broad.mit.edu 37 14 95081183 95081183 + Silent SNP G G A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr14:95081183G>A uc001ydp.2 + 2 484 c.405G>A c.(403-405)CTG>CTA p.L135L SERPINA3_uc001ydo.3_Silent_p.L160L|SERPINA3_uc010avf.1_RNA|SERPINA3_uc001ydr.2_RNA|SERPINA3_uc001ydq.2_Silent_p.L135L|SERPINA3_uc001yds.2_Silent_p.L135L|SERPINA3_uc010avg.2_Silent_p.L135L NM_001085 NP_001076 P01011 AACT_HUMAN serpin peptidase inhibitor, clade A, member 3 135 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1) 6 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) AGCTGCAGCTGAGTATGGGAA 0.547 NA 9 62 0 0 0.000274275 0 0 MAGEL2 54551 broad.mit.edu 37 15 23890281 23890281 + Missense_Mutation SNP T T A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr15:23890281T>A uc001ywj.3 - 1 895 c.800A>T c.(799-801)GAG>GTG p.E267V NM_019066 NP_061939 MAGE-like protein 2 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) CTTGGAGGCCTCTTGAGTGGT 0.632 NA 22 37 0 0 0.000295444 0 0 C15orf2 23742 broad.mit.edu 37 15 24924005 24924005 + Silent SNP G G C TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr15:24924005G>C uc001ywo.2 + 1 3465 c.2991G>C c.(2989-2991)CTG>CTC p.L997L NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 997 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) GTACCTTACTGGTTGGAAATA 0.522 NA 3 46 0 0 6.4e-05 0 0 ACTC1 70 broad.mit.edu 37 15 35084734 35084734 + Missense_Mutation SNP T T C TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr15:35084734T>C uc001ziu.1 - 4 734 c.491A>G c.(490-492)AAT>AGT p.N164S uc001zit.1_Intron NM_005159 NP_005150 P68032 ACTC_HUMAN cardiac muscle alpha actin 1 proprotein 164 apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly actomyosin, actin part|cytosol|I band ATP binding|ATPase activity|myosin binding upper_aerodigestive_tract(1)|ovary(1) 2 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) GATGGGGACATTGTGAGTTAC 0.537 NA 19 46 0 0 0.000375601 0 0 ATP8B4 79895 broad.mit.edu 37 15 50168722 50168722 + Splice_Site SNP T T A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr15:50168722T>A uc001zxu.2 - 25 2924 c.2782_splice c.e25-1 p.D928_splice ATP8B4_uc010ber.2_Splice_Site_p.D801_splice|ATP8B4_uc010ufd.1_Splice_Site_p.D738_splice|ATP8B4_uc010ufe.1_Splice_Site|ATP8B4_uc001zxt.2_5'UTR NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN ATPase class I type 8B member 4 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity skin(3)|ovary(2)|breast(2)|large_intestine(1) 8 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) ACTCACATCCTGTAAACAGAG 0.418 NA 9 32 0 0 0.000978159 0 0 RPL3L 6123 broad.mit.edu 37 16 1995903 1995903 + Missense_Mutation SNP T T A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr16:1995903T>A uc002cnh.2 - 8 1027 c.980A>T c.(979-981)AAC>ATC p.N327I SEPX1_uc010uvs.1_5'Flank NM_005061 NP_005052 Q92901 RL3L_HUMAN ribosomal protein L3-like 327 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome RNA binding|structural constituent of ribosome 0 GAAGTCGTTGTTCACTTCCCC 0.602 NA 20 54 0 0 0.000586117 0 0 CASKIN1 57524 broad.mit.edu 37 16 2239268 2239268 + Missense_Mutation SNP C C A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr16:2239268C>A uc010bsg.1 - 5 489 c.457G>T c.(457-459)GAC>TAC p.D153Y NM_020764 NP_065815 Q8WXD9 CSKI1_HUMAN CASK interacting protein 1 153 ANK 4. signal transduction cytoplasm skin(2) 2 CAGGCCAGGTCCAGGGGCGTC 0.672 NA 9 15 2.17888e-05 0.000144323 0.000442599 1 0 ACSM2B 348158 broad.mit.edu 37 16 20565132 20565132 + Nonsense_Mutation SNP G G T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr16:20565132G>T uc002dhj.3 - 6 917 c.707C>A c.(706-708)TCG>TAG p.S236* ACSM2B_uc002dhk.3_Nonsense_Mutation_p.S236*|ACSM2B_uc010bwf.1_Nonsense_Mutation_p.S236* NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 236 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 GCCCAGGCTCGAGTAGGAATG 0.507 NA 31 69 9.04072e-19 8.35779e-18 0.00058488 1 0 SULT1A2 6799 broad.mit.edu 37 16 28606736 28606736 + Missense_Mutation SNP G G C TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr16:28606736G>C uc002dqg.1 - 4 675 c.324C>G c.(322-324)CAC>CAG p.H108Q uc010vct.1_Intron|SULT1A2_uc002dqh.1_Missense_Mutation_p.H108Q NM_177528 NP_803564 P50226 ST1A2_HUMAN sulfotransferase family, cytosolic, 1A, 108 Proton acceptor (By similarity). 3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process cytosol aryl sulfotransferase activity|flavonol 3-sulfotransferase activity 0 CCAGGGGCAGGTGTGTCTTCA 0.448 NA 19 87 0 0 0.00152264 0 0 SLC12A3 6559 broad.mit.edu 37 16 56928501 56928501 + Missense_Mutation SNP G G T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr16:56928501G>T uc010ccm.2 + 22 2609 c.2580G>T c.(2578-2580)AAG>AAT p.K860N SLC12A3_uc002ekd.3_Missense_Mutation_p.K869N|SLC12A3_uc010ccn.2_Missense_Mutation_p.K868N NM_001126108 NP_001119580 P55017 S12A3_HUMAN solute carrier family 12, member 3 isoform 3 860 Cytoplasmic (Potential). sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity ovary(2)|breast(1) 3 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) GCAAATGCAAGATCCGTGTGT 0.572 NA 11 22 1.11149e-13 9.71609e-13 0.000673444 1 0 CNOT1 23019 broad.mit.edu 37 16 58590826 58590826 + Missense_Mutation SNP C C A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr16:58590826C>A uc002env.2 - 19 2697 c.2404G>T c.(2404-2406)GAC>TAC p.D802Y CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.D802Y|CNOT1_uc002enx.2_Missense_Mutation_p.D802Y|CNOT1_uc002enz.1_Missense_Mutation_p.D231Y NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 802 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol ovary(4)|central_nervous_system(2) 6 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) ACAAAAGGGTCGTTATTCACT 0.493 NA 7 48 2.0095e-06 1.37351e-05 8.12818e-05 1 0 CDH8 1006 broad.mit.edu 37 16 61935283 61935284 + Missense_Mutation DNP CC CC AA TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr16:61935283_61935284CC>AA uc002eog.1 - 3 598_599 c.346_347GG>TT c.(346-348)GGA>TTA p.G116L NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 116 Extracellular (Potential).|Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) ATGGATATCTCCAGTTACATCA 0.441 NA 18 72 0 0 6.4e-05 0 0 ZNF23 7571 broad.mit.edu 37 16 71483658 71483658 + Missense_Mutation SNP C C G TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr16:71483658C>G uc002faf.2 - 6 1084 c.270G>C c.(268-270)CAG>CAC p.Q90H ZNF23_uc002fad.2_Missense_Mutation_p.Q32H|ZNF23_uc002fae.2_Missense_Mutation_p.Q32H|ZNF23_uc010vmf.1_Missense_Mutation_p.Q32H|ZNF23_uc002fag.2_Missense_Mutation_p.Q32H|ZNF23_uc002fah.2_Missense_Mutation_p.Q90H|ZNF23_uc002fai.2_Missense_Mutation_p.Q129H NM_145911 NP_666016 P17027 ZNF23_HUMAN zinc finger protein 23 90 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(137;0.00768) BRCA - Breast invasive adenocarcinoma(221;0.0686) AGTGGACTTCCTGTTGTTTCT 0.403 NA 46 112 0 0 0.000589545 0 0 PMFBP1 83449 broad.mit.edu 37 16 72159967 72159967 + Missense_Mutation SNP T T A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr16:72159967T>A uc002fcc.3 - 15 2340 c.2168A>T c.(2167-2169)GAG>GTG p.E723V PMFBP1_uc002fcd.2_Missense_Mutation_p.E718V|PMFBP1_uc002fce.2_Intron|PMFBP1_uc002fcf.2_Missense_Mutation_p.E573V|PMFBP1_uc010cgo.1_Missense_Mutation_p.E14V NM_031293 NP_112583 Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 723 Potential. ovary(2) 2 Ovarian(137;0.179) ATAGTGCTTCTCCTTCTGCAG 0.537 NA 34 185 0 0 0.000491102 0 0 OR1D2 4991 broad.mit.edu 37 17 2996216 2996216 + Missense_Mutation SNP C C A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr17:2996216C>A uc010vrb.1 - 1 75 c.75G>T c.(73-75)CAG>CAT p.Q25H NM_002548 NP_002539 P34982 OR1D2_HUMAN olfactory receptor, family 1, subfamily D, 25 Extracellular (Potential). cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity ovary(1) 1 AAAACAGGATCCGCTGCTGCT 0.532 NA 22 80 5.26018e-13 4.44693e-12 0.00188189 1 0 MYH8 4626 broad.mit.edu 37 17 10301845 10301845 + Missense_Mutation SNP G G T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr17:10301845G>T uc002gmm.2 - 30 4189 c.4094C>A c.(4093-4095)TCC>TAC p.S1365Y uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 1365 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 GTTGGCCTTGGACAGCGCCCT 0.597 NA Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 60 94 3.37043e-27 3.35737e-26 0.000781405 1 0 HS3ST3A1 9955 broad.mit.edu 37 17 13400014 13400014 + Missense_Mutation SNP C C G TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr17:13400014C>G uc002gob.1 - 2 1519 c.721G>C c.(721-723)GTG>CTG p.V241L NM_006042 NP_006033 Q9Y663 HS3SA_HUMAN heparan sulfate D-glucosaminyl 241 Lumenal (Potential). Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 3 activity ovary(1)|central_nervous_system(1) 2 all_lung(20;0.114) UCEC - Uterine corpus endometrioid carcinoma (92;0.101) TCCCGCACCACCACGATGAGC 0.632 NA 10 36 0 0 0.000566183 0 0 RAI1 10743 broad.mit.edu 37 17 17707136 17707136 + Missense_Mutation SNP T T A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr17:17707136T>A uc002grm.2 + 4 6101 c.5632T>A c.(5632-5634)TAC>AAC p.Y1878N NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 1878 PHD-type. cytoplasm|nucleus zinc ion binding central_nervous_system(1)|skin(1) 2 READ - Rectum adenocarcinoma(1115;0.0276) CCTCCACACCTACCACTACCC 0.612 NA 24 27 0 0 0.000586117 0 0 EPN2 22905 broad.mit.edu 37 17 19186773 19186773 + Missense_Mutation SNP G G A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr17:19186773G>A uc002gvd.3 + 3 789 c.341G>A c.(340-342)CGA>CAA p.R114Q EPN2_uc002gvc.2_Missense_Mutation_p.R114Q|EPN2_uc010vyn.1_Missense_Mutation_p.R114Q|EPN2_uc010cql.1_Intron|EPN2_uc002gve.3_Missense_Mutation_p.R114Q|EPN2_uc002gvf.3_Intron|EPN2_uc010vyo.1_Intron|EPN2_uc002gvg.1_Missense_Mutation_p.R114Q|EPN2_uc010vyp.1_Missense_Mutation_p.R114Q|EPN2_uc010vyq.1_Missense_Mutation_p.R114Q|EPN2_uc002gvh.1_Missense_Mutation_p.R114Q NM_014964 NP_055779 O95208 EPN2_HUMAN epsin 2 isoform b 114 ENTH. endocytosis lipid binding skin(1) 1 all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143) TACATTGACCGAGATGGCAAG 0.572 NA 18 25 0 0 0.000566183 0 0 VTN 7448 broad.mit.edu 37 17 26695960 26695960 + Missense_Mutation SNP G G T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr17:26695960G>T uc002hbc.2 - 5 908 c.759C>A c.(757-759)AAC>AAA p.N253K SARM1_uc010wah.1_Intron|SEBOX_uc010crk.1_5'Flank|SARM1_uc010waj.1_Intron NM_000638 NP_000629 P04004 VTNC_HUMAN vitronectin precursor 253 cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion alphav-beta3 integrin-vitronectin complex|extracellular space heparin binding|integrin binding|scavenger receptor activity ovary(1)|kidney(1) 2 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) Urokinase(DB00013) CTGCATCCACGTTGTCCGGGA 0.592 NA 10 87 4.3838e-07 3.04496e-06 0.00185496 1 0 ERBB2 2064 broad.mit.edu 37 17 37871593 37871593 + Silent SNP G G A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr17:37871593G>A uc002hso.2 + 10 1441 c.1203G>A c.(1201-1203)GAG>GAA p.E401E ERBB2_uc002hsm.2_Silent_p.E371E|ERBB2_uc010cwa.2_Silent_p.E386E|ERBB2_uc002hsp.2_Silent_p.E204E|ERBB2_uc010cwb.2_Silent_p.E401E|ERBB2_uc010wek.1_Silent_p.E125E|ERBB2_uc002hsl.2_Silent_p.E371E NM_004448 NP_004439 P04626 ERBB2_HUMAN erbB-2 isoform a 401 Extracellular (Potential). cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1) 143 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) AAGTGTTTGAGACTCTGGAAG 0.607 1 A|Mis|O breast|ovarian|other tumour types|NSCLC|gastric TCGA GBM(5;<1E-08) 9 20 0 0 0.000673444 0 0 KRT20 54474 broad.mit.edu 37 17 39036991 39036991 + Missense_Mutation SNP C C A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr17:39036991C>A uc002hvl.2 - 3 547 c.505G>T c.(505-507)GTG>TTG p.V169L NM_019010 NP_061883 P35900 K1C20_HUMAN keratin 20 169 Coil 1B.|Rod. apoptosis|intermediate filament organization Golgi apparatus|intermediate filament protein binding|structural constituent of cytoskeleton large_intestine(1)|kidney(1)|skin(1) 3 Breast(137;0.000301)|Ovarian(249;0.15) TCAGCTTCCACTGTTAGACGT 0.378 NA 44 64 3.7052e-28 3.71968e-27 0.000680045 1 0 B4GALNT2 124872 broad.mit.edu 37 17 47219396 47219396 + Splice_Site SNP G G T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr17:47219396G>T uc002ion.2 + 3 455 c.396_splice c.e3-1 p.W132_splice B4GALNT2_uc010wlt.1_Splice_Site_p.W46_splice|B4GALNT2_uc010wlu.1_Splice_Site_p.W72_splice NM_153446 NP_703147 Q8NHY0 B4GN2_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 2 lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process integral to Golgi membrane acetylgalactosaminyltransferase activity large_intestine(1)|ovary(1) 2 all cancers(6;0.000316) GCTTGTTTCAGGCTGTTCCCG 0.498 GBM(124;244 1635 8663 18097 33175) NA 29 54 1.38854e-25 1.36204e-24 0.001512 1 0 CTAGE1 64693 broad.mit.edu 37 18 19996316 19996316 + Missense_Mutation SNP G G C TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr18:19996316G>C uc002ktv.1 - 1 1563 c.1459C>G c.(1459-1461)CCA>GCA p.P487A NM_172241 NP_758441 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 487 integral to membrane ovary(1) 1 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) GGACCATATGGGGAATGCTGT 0.403 NA 57 94 0 0 0.000781405 0 0 ASXL3 80816 broad.mit.edu 37 18 31323160 31323160 + Silent SNP T T A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr18:31323160T>A uc010dmg.1 + 12 3403 c.3348T>A c.(3346-3348)GCT>GCA p.A1116A ASXL3_uc002kxq.2_Silent_p.A823A NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 1116 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 AGCATCAAGCTCGAGCCCATC 0.522 NA 7 28 0 0 8.12818e-05 0 0 FECH 2235 broad.mit.edu 37 18 55247425 55247425 + Missense_Mutation SNP G G C TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr18:55247425G>C uc002lgq.3 - 2 191 c.74C>G c.(73-75)TCC>TGC p.S25C FECH_uc002lgp.3_Missense_Mutation_p.S25C|FECH_uc002lgr.3_Translation_Start_Site NM_000140 NP_000131 P22830 HEMH_HUMAN ferrochelatase isoform b precursor 25 generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus mitochondrial inner membrane|mitochondrial matrix 2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding central_nervous_system(1) 1 Colorectal(73;0.227) CCAGCTGCTGGATGCCACTGT 0.488 NA 4 58 0 0 0.00024832 0 0 ZNF532 55205 broad.mit.edu 37 18 56646334 56646334 + Silent SNP G G A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr18:56646334G>A uc002lho.2 + 9 3745 c.3198G>A c.(3196-3198)TCG>TCA p.S1066S ZNF532_uc002lhp.2_Silent_p.S1064S|ZNF532_uc010xeg.1_Silent_p.S1064S|ZNF532_uc002lhr.2_Silent_p.S1064S|ZNF532_uc002lhs.2_Silent_p.S1064S|ZNF532_uc010xeh.1_Silent_p.S158S NM_018181 NP_060651 Q9HCE3 ZN532_HUMAN zinc finger protein 532 1066 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|skin(1) 2 CTTTCAGCTCGTCCCACAGCC 0.507 NA 26 136 0 0 0.001512 0 0 CBLN2 147381 broad.mit.edu 37 18 70209322 70209322 + Missense_Mutation SNP G G T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr18:70209322G>T uc002lku.2 - 2 309 c.74C>A c.(73-75)CCG>CAG p.P25Q CBLN2_uc002lkv.2_Missense_Mutation_p.P25Q NM_182511 NP_872317 Q8IUK8 CBLN2_HUMAN cerebellin 2 precursor 25 integral to membrane 0 Esophageal squamous(42;0.131) GCAgccgcccggctcgcgcag 0.547 NA 8 7 2.74318e-10 2.12349e-09 0.000442599 1 0 STK11 6794 broad.mit.edu 37 19 1207096 1207096 + Nonsense_Mutation SNP A A T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr19:1207096A>T uc002lrl.1 + 1 1299 c.184A>T c.(184-186)AAG>TAG p.K62* NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 62 ATP (By similarity).|Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(19)|p.?(3)|p.G52_P179del(1) lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1) 266 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) CTCTTACGGCAAGGTGAAGGA 0.617 14 D|Mis|N|F|S NSCLC|pancreatic jejunal harmartoma|ovarian|testicular|pancreatic Peutz-Jeghers_syndrome TSP Lung(3;<1E-08) 9 12 0 0 0.00136819 0 0 ZNF227 7770 broad.mit.edu 37 19 44739842 44739842 + Missense_Mutation SNP C C A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr19:44739842C>A uc002oyu.2 + 6 1464 c.1259C>A c.(1258-1260)GCT>GAT p.A420D ZNF227_uc010xwu.1_Missense_Mutation_p.A369D|ZNF227_uc002oyv.2_Missense_Mutation_p.A420D|ZNF227_uc010xwv.1_Missense_Mutation_p.A369D|ZNF227_uc010xww.1_Missense_Mutation_p.A341D|ZNF227_uc002oyw.2_Missense_Mutation_p.A392D|ZNF227_uc010ejh.2_Missense_Mutation_p.A413D|ZNF235_uc002oyx.1_Intron NM_182490 NP_872296 Q86WZ6 ZN227_HUMAN zinc finger protein 227 420 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(69;0.0435) TTCACTCAGGCTGCACATTTT 0.488 NA 10 48 3.86212e-05 0.000248141 0.000673444 1 0 GYS1 2997 broad.mit.edu 37 19 49485991 49485991 + Silent SNP C C A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr19:49485991C>A uc002plp.2 - 6 1168 c.927G>T c.(925-927)CGG>CGT p.R309R GYS1_uc010xzy.1_Intron|GYS1_uc010emm.2_Silent_p.R245R|GYS1_uc010xzz.1_Silent_p.R229R|GYS1_uc010yaa.1_Intron NM_002103 NP_002094 P13807 GYS1_HUMAN glycogen synthase 1 (muscle) isoform 1 309 glucose metabolic process|glycogen biosynthetic process cytosol glycogen (starch) synthase activity|protein binding ovary(2) 2 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286) AAAAATGGCCCCGCACAAACT 0.328 NA 37 72 1.59361e-14 1.40259e-13 0.00148497 1 0 ZNF71 58491 broad.mit.edu 37 19 57133759 57133759 + Silent SNP G G C TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr19:57133759G>C uc002qnm.3 + 3 1342 c.1104G>C c.(1102-1104)TCG>TCC p.S368S NM_021216 NP_067039 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 368 C2H2-type 9. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) AGAACTCCTCGCTCACGCAGC 0.617 NA 22 41 0 0 0.000720815 0 0 VN1R1 57191 broad.mit.edu 37 19 57967590 57967590 + Missense_Mutation SNP G G T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr19:57967590G>T uc002qos.1 - 1 265 c.265C>A c.(265-267)CAA>AAA p.Q89K ZNF547_uc002qpm.3_Intron NM_020633 NP_065684 Q9GZP7 VN1R1_HUMAN vomeronasal 1 receptor 1 89 Helical; Name=2; (Potential). response to pheromone integral to membrane|plasma membrane pheromone receptor activity ovary(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171) AAGGCCAGTTGGCTGAGAATC 0.423 NA 16 40 2.32078e-09 1.72382e-08 0.000308642 1 0 ZBTB45 84878 broad.mit.edu 37 19 59028204 59028204 + Silent SNP A A C TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr19:59028204A>C uc002qtd.2 - 2 1129 c.837T>G c.(835-837)GCT>GCG p.A279A ZBTB45_uc002qte.2_Silent_p.A279A|ZBTB45_uc002qtf.2_Silent_p.A279A NM_032792 NP_116181 Q96K62 ZBT45_HUMAN zinc finger and BTB domain containing 45 279 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18) ATACGTCCTCAGCTGACCCAG 0.627 NSCLC(164;1383 2017 5233 27540 46677) NA OREG0025700 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 31 0 0 0.00152264 0 0 KIDINS220 57498 broad.mit.edu 37 2 8940623 8940623 + Silent SNP C C A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr2:8940623C>A uc002qzc.2 - 9 989 c.807G>T c.(805-807)GGG>GGT p.G269G KIDINS220_uc010yiv.1_Silent_p.G35G|KIDINS220_uc002qzd.2_Silent_p.G227G|KIDINS220_uc010yiw.1_Silent_p.G270G NM_020738 NP_065789 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate of 220 kDa 269 Cytoplasmic (Potential).|ANK 9. activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane ovary(3)|central_nervous_system(1) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) ACACAGTATCCCCACTCTAAG 0.343 NA 79 136 7.14593e-30 7.34601e-29 0.000781405 1 0 SLC8A1 6546 broad.mit.edu 37 2 40342578 40342578 + Missense_Mutation SNP G G T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr2:40342578G>T uc002rrx.2 - 10 2761 c.2737C>A c.(2737-2739)CTC>ATC p.L913I uc002rrw.2_Intron|SLC8A1_uc002rry.2_Missense_Mutation_p.L908I|SLC8A1_uc002rrz.2_Missense_Mutation_p.L900I|SLC8A1_uc002rsa.2_Missense_Mutation_p.L877I|SLC8A1_uc002rsd.3_Missense_Mutation_p.L877I NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 913 Helical; (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) ATGGTGAAGAGAGTGACAGAG 0.577 NA 11 42 5.50884e-06 3.74543e-05 0.00136819 1 0 VPS54 51542 broad.mit.edu 37 2 64208813 64208813 + Silent SNP T T C TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr2:64208813T>C uc002scq.2 - 3 508 c.345A>G c.(343-345)GAA>GAG p.E115E VPS54_uc002scp.2_Silent_p.E103E NM_016516 NP_057600 Q9P1Q0 VPS54_HUMAN vacuolar protein sorting 54 isoform 1 115 protein transport|retrograde transport, endosome to Golgi 0 CTGTAAAATGTTCCTTGCTGA 0.353 NA 41 90 0 0 0.000437636 0 0 ALMS1 7840 broad.mit.edu 37 2 73653584 73653584 + Missense_Mutation SNP G G T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr2:73653584G>T uc002sje.1 + 7 1355 c.1244G>T c.(1243-1245)GGC>GTC p.G415V ALMS1_uc002sjf.1_Missense_Mutation_p.G372V NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 414 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 TTTGTAGAGGGCCTGCAGGGG 0.428 NA 84 203 1.40082e-25 1.36367e-24 0.000781405 1 0 C2orf55 343990 broad.mit.edu 37 2 99448925 99448925 + Silent SNP C C A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr2:99448925C>A uc002szf.1 - 5 720 c.426G>T c.(424-426)GGG>GGT p.G142G NM_207362 NP_997245 Q6NV74 CB055_HUMAN hypothetical protein LOC343990 142 0 TGGCAGGAAGCCCCCCTGGAG 0.522 NA 16 53 4.7546e-09 3.4714e-08 0.000422831 1 0 UXS1 80146 broad.mit.edu 37 2 106715213 106715213 + Missense_Mutation SNP T T G TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr2:106715213T>G uc002tdm.2 - 13 1084 c.986A>C c.(985-987)CAC>CCC p.H329P UXS1_uc002tdk.2_5'Flank|UXS1_uc002tdl.2_Missense_Mutation_p.H161P|UXS1_uc002tdn.2_Missense_Mutation_p.H334P|UXS1_uc002tdo.2_Missense_Mutation_p.H272P NM_025076 NP_079352 Q8NBZ7 UXS1_HUMAN UDP-glucuronate decarboxylase 1 329 Lumenal (Potential). cellular metabolic process Golgi cisterna membrane|integral to membrane coenzyme binding|UDP-glucuronate decarboxylase activity ovary(2) 2 TAGGATTGTGTGTTCTTCTGG 0.433 NA 14 19 0 0 0.000308642 0 0 GLI2 2736 broad.mit.edu 37 2 121728152 121728152 + Missense_Mutation SNP C C A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr2:121728152C>A uc010flp.2 + 6 1059 c.1029C>A c.(1027-1029)AGC>AGA p.S343R GLI2_uc002tmq.1_Missense_Mutation_p.S15R|GLI2_uc002tmr.1_Missense_Mutation_p.S15R|GLI2_uc002tmt.3_Missense_Mutation_p.S15R|GLI2_uc002tmu.3_Missense_Mutation_p.S15R|GLI2_uc002tmv.1_Missense_Mutation_p.Q214K|GLI2_uc010flo.1_Missense_Mutation_p.S218R|GLI2_uc002tmw.1_Missense_Mutation_p.S343R NM_005270 NP_005261 P10070 GLI2_HUMAN GLI-Kruppel family member GLI2 343 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1) 13 Renal(3;0.0496) Prostate(154;0.0623) AGCTCAGCAGCAGCAGCAACT 0.617 NA 16 31 2.31682e-05 0.000152673 0.000308642 1 0 CNTNAP5 129684 broad.mit.edu 37 2 125261952 125261952 + Silent SNP C C T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr2:125261952C>T uc002tno.2 + 8 1507 c.1143C>T c.(1141-1143)CCC>CCT p.P381P CNTNAP5_uc010flu.2_Silent_p.P382P NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 381 Laminin G-like 2.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) TGCTGCTGCCCGGCACCCCCC 0.512 NA 25 55 0 0 0.00047179 0 0 Unknown 0 broad.mit.edu 37 2 139046051 139046051 + Missense_Mutation SNP C C A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr2:139046051C>A uc010zbk.1 - 1 390 c.247G>T c.(247-249)GAC>TAC p.D83Y SubName: Full=cDNA, FLJ79100, highly similar to 14-3-3 protein epsilon (14-3-3E); NA AGATGTTTGTCCAGTACATCC 0.413 NA 23 58 6.44725e-10 4.96091e-09 0.000295444 1 0 SPOPL 339745 broad.mit.edu 37 2 139322544 139322544 + Missense_Mutation SNP G G T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr2:139322544G>T uc002tvh.2 + 10 1415 c.1015G>T c.(1015-1017)GGG>TGG p.G339W NM_001001664 NP_001001664 Q6IQ16 SPOPL_HUMAN speckle-type POZ protein-like 339 nucleus skin(2)|breast(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.0296) GTGTAAAGATGGGAAAAACTG 0.363 NA 12 52 0.00010058 0.000630464 0.00136819 1 0 LRP1B 53353 broad.mit.edu 37 2 141081590 141081590 + Missense_Mutation SNP T T C TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr2:141081590T>C uc002tvj.1 - 81 13358 c.12386A>G c.(12385-12387)TAT>TGT p.Y4129C NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4129 Extracellular (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) TCCTGCTCCATATATATAATC 0.299 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 30 88 0 0 0.00178596 0 0 RND3 390 broad.mit.edu 37 2 151343252 151343252 + Missense_Mutation SNP T T A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr2:151343252T>A uc002txe.2 - 2 438 c.194A>T c.(193-195)GAA>GTA p.E65V RND3_uc002txf.2_Missense_Mutation_p.E65V|RND3_uc002txg.2_Missense_Mutation_p.E65V|RND3_uc010zbv.1_Missense_Mutation_p.E65V|RND3_uc010zbw.1_5'UTR NM_005168 NP_005159 P61587 RND3_HUMAN ras homolog gene family, member E precursor 65 actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction Golgi membrane GTP binding|GTPase activity lung(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.106) TGTGTCGATTTCAAAACTGGC 0.498 NA 23 189 0 0 0.001512 0 0 GPD2 2820 broad.mit.edu 37 2 157435653 157435653 + Missense_Mutation SNP G G T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr2:157435653G>T uc002tzf.3 + 15 2296 c.1936G>T c.(1936-1938)GTT>TTT p.V646F GPD2_uc010zch.1_Missense_Mutation_p.V419F|GPD2_uc002tzd.3_Missense_Mutation_p.V646F|GPD2_uc002tze.1_RNA NM_001083112 NP_001076581 P43304 GPDM_HUMAN glycerol-3-phosphate dehydrogenase 2, 646 EF-hand 1. cellular lipid metabolic process glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity ovary(1) 1 TATTACCATTGTTGATGTTCA 0.323 NA 58 160 2.165e-29 2.20796e-28 0.000781405 1 0 HOXD8 3234 broad.mit.edu 37 2 176995628 176995628 + Missense_Mutation SNP G G C TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr2:176995628G>C uc002uko.2 + 1 1152 c.534G>C c.(532-534)CAG>CAC p.Q178H uc002ukl.1_5'Flank|uc002ukm.1_5'Flank|HOXD8_uc002ukn.2_5'UTR|HOXD8_uc002ukp.2_Missense_Mutation_p.Q178H NM_019558 NP_062458 P13378 HXD8_HUMAN homeobox D8 178 anterior/posterior axis specification, embryo nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195) Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556) ACTTAAATCAGAGCTCGTCTC 0.463 NA 28 69 0 0 0.001512 0 0 CERKL 375298 broad.mit.edu 37 2 182423393 182423393 + Silent SNP G G T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr2:182423393G>T uc002unx.2 - 6 899 c.798C>A c.(796-798)GCC>GCA p.A266A CERKL_uc002uny.2_Silent_p.A240A|CERKL_uc010zfm.1_Silent_p.A222A|CERKL_uc002unz.2_5'UTR|CERKL_uc002uoa.2_Intron|CERKL_uc002uob.2_5'UTR|CERKL_uc002uoc.2_Intron|CERKL_uc010frk.2_RNA|CERKL_uc002uod.1_Silent_p.A35A|CERKL_uc002uoe.2_Silent_p.A240A NM_001030311 NP_001025482 Q49MI3 CERKL_HUMAN ceramide kinase-like isoform b 266 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus diacylglycerol kinase activity ovary(2)|kidney(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.088) GCAAAGCATGGGCTACTTCGC 0.448 NA 21 55 3.8784e-16 3.48514e-15 0.00188189 1 0 ANKAR 150709 broad.mit.edu 37 2 190569878 190569878 + Missense_Mutation SNP A A G TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr2:190569878A>G uc002uqw.1 + 7 1625 c.1625A>G c.(1624-1626)TAT>TGT p.Y542C ANKAR_uc002uqu.2_RNA NM_144708 NP_653309 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 613 ANK 3. integral to membrane binding ovary(2)|pancreas(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) GCCGCTTTCTATGACAACGTT 0.413 NA 43 93 0 0 0.000437636 0 0 DNAH7 56171 broad.mit.edu 37 2 196774919 196774919 + Missense_Mutation SNP T T A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr2:196774919T>A uc002utj.3 - 25 4037 c.3936A>T c.(3934-3936)AGA>AGT p.R1312S NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1312 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 CAAATAAGGTTCTGAAACATA 0.408 NA 10 21 0 0 0.000673444 0 0 ERBB4 2066 broad.mit.edu 37 2 212248358 212248358 + Missense_Mutation SNP G G T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr2:212248358G>T uc002veg.1 - 28 4007 c.3909C>A c.(3907-3909)CAC>CAA p.H1303Q ERBB4_uc002veh.1_Missense_Mutation_p.H1287Q|ERBB4_uc010zji.1_Missense_Mutation_p.H1293Q|ERBB4_uc010zjj.1_Missense_Mutation_p.H1277Q NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 1303 Cytoplasmic (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) CAGTATTCCGGTGTCTGTAAG 0.537 NA TSP Lung(8;0.080) 19 53 4.96729e-08 3.48796e-07 0.00121646 1 0 TMEM169 92691 broad.mit.edu 37 2 216964934 216964934 + Missense_Mutation SNP A A G TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr2:216964934A>G uc010zjr.1 + 4 889 c.563A>G c.(562-564)TAC>TGC p.Y188C TMEM169_uc010zjs.1_Missense_Mutation_p.Y188C|TMEM169_uc002vfw.2_Missense_Mutation_p.Y188C|TMEM169_uc002vfv.3_Missense_Mutation_p.Y188C NM_001142310 NP_001135782 Q96HH4 TM169_HUMAN transmembrane protein 169 188 Cytoplasmic (Potential). integral to membrane ovary(1) 1 Renal(323;0.0651) Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ATCACCTGGTACAACATCTTC 0.502 NA 65 126 0 0 0.000781405 0 0 SPHKAP 80309 broad.mit.edu 37 2 228996758 228996758 + Nonsense_Mutation SNP G G A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr2:228996758G>A uc002vpq.2 - 2 123 c.76C>T c.(76-78)CAG>TAG p.Q26* SPHKAP_uc002vpp.2_Nonsense_Mutation_p.Q26*|SPHKAP_uc010zlx.1_Nonsense_Mutation_p.Q26* NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 26 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CCTCTGCCCTGCTGCGGTTCC 0.488 NA 35 92 0 0 0.00148497 0 0 UGT1A10 54575 broad.mit.edu 37 2 234546000 234546000 + Missense_Mutation SNP C C A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr2:234546000C>A uc002vur.2 + 1 878 c.832C>A c.(832-834)CAT>AAT p.H278N UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Missense_Mutation_p.H278N NM_019075 NP_061948 Q9HAW8 UD110_HUMAN UDP glycosyltransferase 1 family, polypeptide 278 flavone metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding ovary(2)|skin(1) 3 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008) TATCAACTGTCATCAGGGAAA 0.413 NA 76 224 5.02048e-33 5.24497e-32 0.000781405 1 0 KIAA0406 9675 broad.mit.edu 37 20 36640312 36640312 + Missense_Mutation SNP T T A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr20:36640312T>A uc002xhl.2 - 3 2116 c.1907A>T c.(1906-1908)CAG>CTG p.Q636L KIAA0406_uc002xhm.2_Missense_Mutation_p.Q636L NM_014657 NP_055472 O43156 TTI1_HUMAN hypothetical protein LOC9675 636 binding 0 Myeloproliferative disorder(115;0.00874) ATATGCAAACTGGCCAATTCC 0.433 NA 64 55 0 0 0.000781405 0 0 ZNF217 7764 broad.mit.edu 37 20 52192804 52192804 + Silent SNP G G A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr20:52192804G>A uc002xwq.3 - 3 2770 c.2499C>T c.(2497-2499)GCC>GCT p.A833A ZNF217_uc010gij.1_Silent_p.A825A NM_006526 NP_006517 O75362 ZN217_HUMAN zinc finger protein 217 833 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1) 6 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) GTTGCCTGGTGGCGGCCCCTT 0.517 NA 65 78 0 0 0.000781405 0 0 PCK1 5105 broad.mit.edu 37 20 56136641 56136641 + Silent SNP C C A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr20:56136641C>A uc002xyn.3 + 2 337 c.174C>A c.(172-174)GGC>GGA p.G58G PCK1_uc010zzm.1_5'UTR NM_002591 NP_002582 P35558 PCKGC_HUMAN cytosolic phosphoenolpyruvate carboxykinase 1 58 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity skin(1) 1 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) GGCTTCTGGGCCAGATGGAGG 0.602 NA 11 111 1.58986e-06 1.0925e-05 0.000673444 1 0 PCK1 5105 broad.mit.edu 37 20 56138656 56138656 + Silent SNP G G A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr20:56138656G>A uc002xyn.3 + 6 997 c.834G>A c.(832-834)AAG>AAA p.K278K PCK1_uc010zzm.1_Intron NM_002591 NP_002582 P35558 PCKGC_HUMAN cytosolic phosphoenolpyruvate carboxykinase 1 278 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity skin(1) 1 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) GTGAGAAGAAGTACCTGGCGG 0.557 NA 9 50 0 0 0.000442599 0 0 SS18L1 26039 broad.mit.edu 37 20 60736500 60736500 + Silent SNP G G T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr20:60736500G>T uc002ycb.2 + 4 295 c.240G>T c.(238-240)ACG>ACT p.T80T SS18L1_uc011aaa.1_Silent_p.T80T|SS18L1_uc002ybz.1_RNA|SS18L1_uc002yca.1_RNA|SS18L1_uc002ycc.1_RNA NM_198935 NP_945173 O75177 CREST_HUMAN SS18-like protein 1 80 N-terminal auto-inhibitory domain; necessary for interaction with SMARCA4/BRG1 (By similarity). chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed chromosome kinetochore ovary(2) 2 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.92e-08) AGCCGCCCACGCAGAACATGA 0.622 NA T SSX1 synovial sarcoma 6 39 0.00116845 0.00711589 0.00116845 1 0 DIDO1 11083 broad.mit.edu 37 20 61512066 61512066 + Missense_Mutation SNP G G T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr20:61512066G>T uc002ydr.1 - 16 5506 c.5242C>A c.(5242-5244)CCC>ACC p.P1748T DIDO1_uc002yds.1_Missense_Mutation_p.P1748T NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 1748 Pro-rich. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) TGAAACGGGGGCTGAGAGCCC 0.677 Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095) NA 11 66 9.31168e-06 6.26466e-05 0.00185496 1 0 TPTE 7179 broad.mit.edu 37 21 10970031 10970031 + Missense_Mutation SNP C C T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr21:10970031C>T uc002yip.1 - 6 465 c.97G>A c.(97-99)GAG>AAG p.E33K TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.E33K|TPTE_uc002yir.1_Missense_Mutation_p.E33K|TPTE_uc010gkv.1_Intron NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 33 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GGTGCCTCCTCGGTTGCTCCT 0.393 NA 39 143 0 0 0.000437636 0 0 SYNJ1 8867 broad.mit.edu 37 21 34037310 34037310 + Silent SNP G G A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr21:34037310G>A uc002yqh.2 - 18 2334 c.2334C>T c.(2332-2334)AAC>AAT p.N778N SYNJ1_uc011ads.1_Silent_p.N734N|SYNJ1_uc002yqf.2_Silent_p.N739N|SYNJ1_uc002yqg.2_Silent_p.N734N|SYNJ1_uc002yqi.2_Silent_p.N778N NM_003895 NP_003886 O43426 SYNJ1_HUMAN synaptojanin 1 isoform a 739 Catalytic (Potential). inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding ovary(4)|skin(1) 5 TAACTTCTTCGTTAGGGAGAT 0.353 NA 9 32 0 0 0.000978159 0 0 RUNX1 861 broad.mit.edu 37 21 36231782 36231782 + Missense_Mutation SNP C C T rs74315450 TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr21:36231782C>T uc002yuh.2 - 3 2099 c.521G>A c.(520-522)CGA>CAA p.R174Q RUNX1_uc002yui.2_Missense_Mutation_p.R174Q|RUNX1_uc010gmu.2_Missense_Mutation_p.R201Q|RUNX1_uc010gmv.2_Missense_Mutation_p.R201Q|RUNX1_uc002yuj.3_Missense_Mutation_p.R69Q|RUNX1_uc002yuk.3_Missense_Mutation_p.R201Q|RUNX1_uc002yum.1_Missense_Mutation_p.R69Q|RUNX1_uc010gmw.1_Missense_Mutation_p.R201Q|RUNX1_uc002yuo.1_Missense_Mutation_p.R174Q|RUNX1_uc002yur.1_Missense_Mutation_p.R69Q|uc002yus.1_RNA NM_001001890 NP_001001890 Q01196 RUNX1_HUMAN runt-related transcription factor 1 isoform 174 Interaction with DNA.|Runt. R -> Q (in FPDMM; impaired phosphorylation). R->A: Strongly reduces DNA-binding.|Missing: No DNA-binding. myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus|nucleus ATP binding|calcium ion binding|DNA binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding p.R201Q(7)|p.T174T(1) haematopoietic_and_lymphoid_tissue(383)|lung(2)|ovary(1)|central_nervous_system(1) 387 TCGAGGTTCTCGGGGCCCATC 0.552 NA T RPL22|MDS1|EVI1|CBFA2T3|CBFA2T1|ETV6|LAF4 AML|preB- ALL|T-ALL Platelet_disorder_associated_with_Myeloid_Malignancies 38 67 0 0 0.00128727 0 0 IGLL1 3543 broad.mit.edu 37 22 23915496 23915496 + Missense_Mutation SNP C C A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr22:23915496C>A uc002zxd.2 - 3 717 c.599G>T c.(598-600)GGG>GTG p.G200V IGLL1_uc002zxe.2_3'UTR NM_020070 NP_064455 P15814 IGLL1_HUMAN immunoglobulin lambda-like polypeptide 1 isoform 200 C region (By similarity to lambda light- chain).|Ig-like C1-type. immune response extracellular region|membrane 0 CACGGTGCTCCCTTCGTGCAT 0.627 NA 12 34 0.00010058 0.000630464 0.00136819 1 0 PARVG 64098 broad.mit.edu 37 22 44592093 44592093 + Missense_Mutation SNP G G T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr22:44592093G>T uc011aqe.1 + 10 1066 c.642G>T c.(640-642)GAG>GAT p.E214D PARVG_uc003bep.2_Missense_Mutation_p.E214D|PARVG_uc011aqf.1_Missense_Mutation_p.E214D|PARVG_uc003beq.2_RNA|PARVG_uc003ber.2_RNA NM_001137605 NP_001131077 Q9HBI0 PARVG_HUMAN parvin, gamma 214 CH 2. cell-matrix adhesion cytoplasm|cytoskeleton|focal adhesion actin binding 0 Ovarian(80;0.024)|all_neural(38;0.0299) CAGTGAAAGAGGTAGGAGAGA 0.527 NA 14 51 9.31168e-06 6.26466e-05 0.00185496 1 0 CACNA1D 776 broad.mit.edu 37 3 53752354 53752354 + Missense_Mutation SNP T T A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr3:53752354T>A uc003dgv.3 + 10 1580 c.1417T>A c.(1417-1419)TCT>ACT p.S473T CACNA1D_uc003dgu.3_Missense_Mutation_p.S473T|CACNA1D_uc003dgy.3_Missense_Mutation_p.S473T|CACNA1D_uc003dgw.3_Missense_Mutation_p.S120T NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, 473 Cytoplasmic (Potential). axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) CGAGACTGAGTCTGTGAACAC 0.622 NA 25 36 0 0 0.001512 0 0 CRYBG3 131544 broad.mit.edu 37 3 97596628 97596628 + Missense_Mutation SNP A A T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr3:97596628A>T uc003drx.2 + 1 810 c.746A>T c.(745-747)TAT>TTT p.Y249F NM_153605 NP_705833 beta-gamma crystallin domain containing 3 0 AAGAATTCATATGTGATGCCA 0.448 NA 12 12 0 0 0.00185496 0 0 GPR128 84873 broad.mit.edu 37 3 100373882 100373882 + Missense_Mutation SNP C C T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr3:100373882C>T uc003duc.2 + 12 1851 c.1583C>T c.(1582-1584)GCG>GTG p.A528V GPR128_uc011bhc.1_Missense_Mutation_p.A229V|GPR128_uc003dud.2_Missense_Mutation_p.A51V NM_032787 NP_116176 Q96K78 GP128_HUMAN G protein-coupled receptor 128 precursor 528 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|skin(1) 4 ATGTGCACTGCGATTGCCGCC 0.438 Pancreas(87;185 1975 7223 18722) NA 20 116 0 0 0.00152264 0 0 TIGIT 201633 broad.mit.edu 37 3 114014445 114014445 + Missense_Mutation SNP G G A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr3:114014445G>A uc003ebg.1 + 2 149 c.115G>A c.(115-117)GGC>AGC p.G39S NM_173799 NP_776160 Q495A1 TIGIT_HUMAN T cell immunoreceptor with Ig and ITIM domains 39 Extracellular (Potential).|Ig-like V-type. negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production cell surface|integral to membrane|plasma membrane protein binding central_nervous_system(1) 1 AGAGAAAGGTGGCTCTATCAT 0.522 NA 62 87 0 0 0.000781405 0 0 MYLK 4638 broad.mit.edu 37 3 123457878 123457878 + Missense_Mutation SNP G G A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr3:123457878G>A uc003ego.2 - 7 736 c.454C>T c.(454-456)CGT>TGT p.R152C MYLK_uc011bjw.1_Missense_Mutation_p.R152C|MYLK_uc003egp.2_Missense_Mutation_p.R152C|MYLK_uc003egq.2_Missense_Mutation_p.R152C|MYLK_uc003egr.2_Missense_Mutation_p.R152C|MYLK_uc003egs.2_5'UTR|MYLK_uc010hrs.1_Missense_Mutation_p.R152C NM_053025 NP_444253 Q15746 MYLK_HUMAN myosin light chain kinase isoform 1 152 aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity ovary(6)|skin(2)|stomach(1) 9 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) ATGCTAGGACGGGTCTCCACT 0.527 NA 6 17 0 0 0.000274275 0 0 BFSP2 8419 broad.mit.edu 37 3 133119189 133119189 + Silent SNP C C T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr3:133119189C>T uc003epn.1 + 1 400 c.262C>T c.(262-264)CTG>TTG p.L88L NM_003571 NP_003562 Q13515 BFSP2_HUMAN phakinin 88 Head. response to stimulus|visual perception cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens 0 CCTTCAGGGCCTGCGGAGCTC 0.642 NA 28 26 0 0 0.000878237 0 0 ACAP2 23527 broad.mit.edu 37 3 195022341 195022341 + Missense_Mutation SNP G G C TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr3:195022341G>C uc003fun.3 - 15 1599 c.1358C>G c.(1357-1359)TCT>TGT p.S453C NM_012287 NP_036419 Q15057 ACAP2_HUMAN centaurin, beta 2 453 Arf-GAP. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding large_intestine(1)|ovary(1) 2 TAAAGTTAAAGATCGTACTTT 0.323 NA 28 36 0 0 0.001512 0 0 PDE6B 5158 broad.mit.edu 37 4 628465 628465 + Splice_Site SNP G G T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr4:628465G>T uc003gap.2 + 2 522 c.469_splice c.e2-1 p.C157_splice PDE6B_uc003gao.3_Splice_Site_p.C157_splice NM_000283 NP_000274 P35913 PDE6B_HUMAN phosphodiesterase 6B isoform 1 cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding 0 TCTTGCGGCAGTGCCCTCACT 0.582 GBM(71;463 1194 9848 25922 46834) NA 31 48 1.61788e-16 1.46407e-15 0.000409698 1 0 DRD5 1816 broad.mit.edu 37 4 9784934 9784934 + Silent SNP C C T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr4:9784934C>T uc003gmb.3 + 1 1677 c.1281C>T c.(1279-1281)AAC>AAT p.N427N NM_000798 NP_000789 P21918 DRD5_HUMAN dopamine receptor D5 427 Cytoplasmic (Potential). activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane skin(1) 1 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) AGGTGGACAACGACGAGGAGG 0.572 NA 8 53 0 0 0.000157383 0 0 CHRNA9 55584 broad.mit.edu 37 4 40356304 40356304 + Missense_Mutation SNP G G T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr4:40356304G>T uc003gva.1 + 5 1223 c.1207G>T c.(1207-1209)GAC>TAC p.D403Y NM_017581 NP_060051 Q9UGM1 ACHA9_HUMAN cholinergic receptor, nicotinic, alpha 9 403 Cytoplasmic (Potential). elevation of cytosolic calcium ion concentration|synaptic transmission cell junction|postsynaptic membrane calcium channel activity|receptor activity breast(3)|skin(3)|central_nervous_system(1) 7 Nicotine(DB00184) CTTAAAGAACGACCTGGGCTG 0.483 Esophageal Squamous(115;1297 1602 22235 25158 43327) NA 22 39 4.35082e-09 3.19474e-08 0.00152264 1 0 APBB2 323 broad.mit.edu 37 4 41016079 41016079 + Missense_Mutation SNP T T C TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr4:41016079T>C uc003gvl.2 - 6 986 c.356A>G c.(355-357)AAC>AGC p.N119S APBB2_uc003gvm.2_Missense_Mutation_p.N119S|APBB2_uc003gvn.2_Missense_Mutation_p.N119S|APBB2_uc011byt.1_Missense_Mutation_p.N102S NM_173075 NP_775098 Q92870 APBB2_HUMAN amyloid beta A4 precursor protein-binding, 119 cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent growth cone|lamellipodium|membrane|nucleus|synapse beta-amyloid binding|transcription factor binding ovary(2)|large_intestine(1) 3 CAGGTTTTTGTTGGGGTCCTG 0.537 Ovarian(3;20 75 16686 49997) NA 18 47 0 0 0.00074312 0 0 KIT 3815 broad.mit.edu 37 4 55594049 55594049 + Missense_Mutation SNP T T C TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr4:55594049T>C uc010igr.2 + 12 1922 c.1835T>C c.(1834-1836)ATT>ACT p.I612T KIT_uc010igs.2_Missense_Mutation_p.I608T|KIT_uc010igt.1_Missense_Mutation_p.I61T NM_000222 NP_000213 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral 612 Protein kinase.|Cytoplasmic (Potential). male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1) 5118 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) TATGGCTTAATTAAGTCAGAT 0.483 1 Mis|O GIST|AML|TGCT|mastocytosis|mucosal melanoma GIST|epithelioma Piebald trait Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors 16 49 0 0 0.00152264 0 0 EPHA5 2044 broad.mit.edu 37 4 66213797 66213797 + Missense_Mutation SNP G G T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr4:66213797G>T uc003hcy.2 - 15 2826 c.2633C>A c.(2632-2634)CCC>CAC p.P878H EPHA5_uc003hcx.2_Missense_Mutation_p.P810H|EPHA5_uc003hcz.2_Missense_Mutation_p.P856H|EPHA5_uc011cah.1_Missense_Mutation_p.P879H|EPHA5_uc011cai.1_Missense_Mutation_p.P857H|EPHA5_uc003hda.2_Missense_Mutation_p.P879H NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 878 Cytoplasmic (Potential).|Protein kinase. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 CTCCCAGTAGGGTCTCTCTCC 0.418 NA TSP Lung(17;0.13) 36 75 1.04594e-18 9.60023e-18 0.00128727 1 0 IL21 59067 broad.mit.edu 37 4 123542199 123542199 + Translation_Start_Site SNP G G A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr4:123542199G>A uc003ies.2 - 1 13 c.-32C>T c.(-34--30)AACGA>AATGA uc003iet.2_RNA|IL21_uc010int.2_Translation_Start_Site NM_021803 NP_068575 Q9HBE4 IL21_HUMAN interleukin 21 cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction extracellular space cytokine activity|interleukin-2 receptor binding 0 CCTTGGTCTCGTTTTCACTTC 0.463 NA 8 46 0 0 0.000157383 0 0 CDH12 1010 broad.mit.edu 37 5 21752007 21752007 + Nonsense_Mutation SNP C C A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr5:21752007C>A uc010iuc.2 - 12 2682 c.2224G>T c.(2224-2226)GAA>TAA p.E742* CDH12_uc011cno.1_Nonsense_Mutation_p.E702*|CDH12_uc003jgk.2_Nonsense_Mutation_p.E742*|uc003jgj.2_Intron NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 742 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 CCACTCCCTTCGTAGGCATAT 0.507 NA HNSCC(59;0.17) 28 70 2.12542e-12 1.77348e-11 0.00106085 1 0 CDH10 1008 broad.mit.edu 37 5 24509754 24509754 + Missense_Mutation SNP C C A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr5:24509754C>A uc003jgr.1 - 7 1509 c.1177G>T c.(1177-1179)GTT>TTT p.V393F CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 393 Cadherin 4.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) TCTTCATGAACTTCAAACAGA 0.378 NA HNSCC(23;0.051) 16 31 7.07596e-05 0.000452369 0.00074312 1 0 TMEM171 134285 broad.mit.edu 37 5 72419515 72419515 + Missense_Mutation SNP G G T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr5:72419515G>T uc003kcm.2 + 2 519 c.315G>T c.(313-315)GAG>GAT p.E105D TMEM171_uc003kcn.3_Missense_Mutation_p.E105D NM_173490 NP_775761 Q8WVE6 TM171_HUMAN transmembrane protein 171 isoform 1 105 integral to membrane 0 Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115) TCTGTGGAGAGAGCCGCCAGT 0.612 NSCLC(112;638 2280 27369 30736) NA 20 50 7.45023e-12 5.9463e-11 0.00152264 1 0 ADAMTS19 171019 broad.mit.edu 37 5 128863519 128863519 + Missense_Mutation SNP A A T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr5:128863519A>T uc003kvb.1 + 5 1147 c.1147A>T c.(1147-1149)ACT>TCT p.T383S ADAMTS19_uc003kvc.1_RNA NM_133638 NP_598377 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 383 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|breast(2)|lung(1)|skin(1) 9 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) GCTCCATGAAACTCCAGTAAG 0.308 NA 5 88 0 0 0.000157383 0 0 PCDHA1 56147 broad.mit.edu 37 5 140167779 140167779 + Missense_Mutation SNP G G A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr5:140167779G>A uc003lhb.2 + 1 1904 c.1904G>A c.(1903-1905)CGT>CAT p.R635H PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.R635H NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 635 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCACGACTCGTGTCCTGGAC 0.647 NA 28 51 0 0 0.000878237 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140389282 140389282 + Nonsense_Mutation SNP C C A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr5:140389282C>A uc003lii.2 + 4 3024 c.2784C>A c.(2782-2784)TAC>TAA p.Y928* PCDHA1_uc003lha.2_Nonsense_Mutation_p.Y607*|PCDHA1_uc003lhb.2_Nonsense_Mutation_p.Y871*|PCDHA2_uc003lhd.2_Nonsense_Mutation_p.Y869*|PCDHA3_uc003lhf.2_Nonsense_Mutation_p.Y871*|PCDHA4_uc003lhi.2_Nonsense_Mutation_p.Y868*|PCDHA4_uc003lhh.1_Nonsense_Mutation_p.Y868*|PCDHA5_uc003lhk.1_Nonsense_Mutation_p.Y857*|PCDHA5_uc003lhl.2_Nonsense_Mutation_p.Y857*|PCDHA6_uc003lhn.2_Nonsense_Mutation_p.Y607*|PCDHA6_uc003lho.2_Nonsense_Mutation_p.Y871*|PCDHA7_uc003lhq.2_Nonsense_Mutation_p.Y858*|PCDHA8_uc003lhs.2_Nonsense_Mutation_p.Y871*|PCDHA9_uc003lhu.2_Nonsense_Mutation_p.Y871*|PCDHA10_uc003lhw.2_Nonsense_Mutation_p.Y606*|PCDHA10_uc003lhx.2_Nonsense_Mutation_p.Y869*|PCDHA11_uc003lia.2_Nonsense_Mutation_p.Y870*|PCDHA12_uc003lic.2_Nonsense_Mutation_p.Y862*|PCDHA13_uc003lie.1_Nonsense_Mutation_p.Y871*|PCDHA13_uc003lif.2_Nonsense_Mutation_p.Y871*|PCDHAC1_uc003lih.2_Nonsense_Mutation_p.Y884* NM_018899 NP_061722 Q9Y5I4 PCDC2_HUMAN protocadherin alpha subfamily C, 2 isoform 1 928 4 X 4 AA repeats of P-X-X-P.|Cytoplasmic (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTTTAAATACGGACCAGGCA 0.507 Melanoma(190;638 2083 3390 11909 52360) NA 25 62 7.07758e-08 4.94277e-07 0.000720815 1 0 PCDHGA3 56112 broad.mit.edu 37 5 140725707 140725707 + Missense_Mutation SNP G G A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr5:140725707G>A uc003ljm.1 + 1 2107 c.2107G>A c.(2107-2109)GTC>ATC p.V703I PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Missense_Mutation_p.V463I|PCDHGA3_uc011dap.1_Missense_Mutation_p.V703I NM_018916 NP_061739 Q9Y5H0 PCDG3_HUMAN protocadherin gamma subfamily A, 3 isoform 1 703 Helical; (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTCTCCTGCGTCTTCCTGGC 0.682 NA 17 91 0 0 0.00188189 0 0 NDST1 3340 broad.mit.edu 37 5 149901013 149901013 + Missense_Mutation SNP G G T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr5:149901013G>T uc003lsk.3 + 2 699 c.197G>T c.(196-198)CGC>CTC p.R66L NDST1_uc011dcj.1_Missense_Mutation_p.R66L|NDST1_uc003lsl.2_Missense_Mutation_p.R66L NM_001543 NP_001534 P52848 NDST1_HUMAN N-deacetylase/N-sulfotransferase (heparan 66 Heparan sulfate N-deacetylase 1.|Lumenal (Potential). heparan sulfate proteoglycan biosynthetic process|inflammatory response Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity breast(1)|skin(1) 2 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCCCCCAGTCGCCTGCTGCCA 0.672 NA 11 31 3.86212e-05 0.000248141 0.000673444 1 0 DOCK2 1794 broad.mit.edu 37 5 169474616 169474616 + Missense_Mutation SNP C C T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr5:169474616C>T uc003maf.2 + 40 4149 c.4069C>T c.(4069-4071)CGG>TGG p.R1357W DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.R849W NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1357 DHR-2.|Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTCCTTCCTGCGGGTGAGTTT 0.542 NA 7 30 0 0 8.12818e-05 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178634657 178634657 + Missense_Mutation SNP C C T rs143764421 byFrequency TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr5:178634657C>T uc003mjw.2 - 4 748 c.748G>A c.(748-750)GCC>ACC p.A250T ADAMTS2_uc011dgm.1_Missense_Mutation_p.A250T NM_014244 NP_055059 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 250 collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) GAGCTGTTGGCGTGCTCCTCT 0.662 NA 10 61 0 0 0.000442599 0 0 RREB1 6239 broad.mit.edu 37 6 7231254 7231254 + Silent SNP A A T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr6:7231254A>T uc003mxc.2 + 10 3312 c.2922A>T c.(2920-2922)GCA>GCT p.A974A RREB1_uc003mxb.2_Silent_p.A974A|RREB1_uc010jnx.2_Silent_p.A974A NM_001003698 NP_001003698 Q92766 RREB1_HUMAN ras responsive element binding protein 1 isoform 974 Pro-rich. multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1) 11 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) CCTGCCCAGCACCCGGCCCTT 0.662 NA 13 26 0 0 0.00136819 0 0 HIST1H3D 8351 broad.mit.edu 37 6 26197336 26197336 + Missense_Mutation SNP G G A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr6:26197336G>A uc003ngv.2 - 2 540 c.143C>T c.(142-144)GCT>GTT p.A48V HIST1H2BF_uc003ngx.2_5'Flank NM_003530 NP_003521 P68431 H31_HUMAN histone cluster 1, H3d 48 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding 0 all_hematologic(11;0.196) CTCGCGCAGAGCCACCGTGCC 0.637 GBM(108;3816 4467) NA 17 63 0 0 0.000566183 0 0 GABBR1 2550 broad.mit.edu 37 6 29577119 29577119 + Missense_Mutation SNP C C A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr6:29577119C>A uc003nmt.3 - 15 2082 c.1746G>T c.(1744-1746)AAG>AAT p.K582N GABBR1_uc003nmp.3_Missense_Mutation_p.K465N|GABBR1_uc003nms.3_Missense_Mutation_p.K465N|GABBR1_uc003nmu.3_Missense_Mutation_p.K520N|GABBR1_uc011dlr.1_Missense_Mutation_p.K405N|GABBR1_uc011dls.1_Intron NM_001470 NP_001461 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor 1 582 Extracellular (Potential). gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(5)|liver(1)|skin(1) 7 Baclofen(DB00181)|Progabide(DB00837) AGCGGAATGTCTTGATGACCA 0.393 NA 19 41 2.4624e-09 1.81849e-08 0.00121646 1 0 C4A 720 broad.mit.edu 37 6 31963559 31963559 + Missense_Mutation SNP A A G rs147162052 TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr6:31963559A>G uc011doy.1 + 25 3269 c.3218A>G c.(3217-3219)GAC>GGC p.D1073G C4A_uc011doz.1_Missense_Mutation_p.D1073G NM_007293 NP_009224 P0C0L4 CO4A_HUMAN complement component 4A preproprotein 1073 complement activation, classical pathway|inflammatory response|innate immune response extracellular space endopeptidase inhibitor activity 0 TTGTCACGGGACAGCAGCACC 0.612 NA 3 62 0 0 6.4e-05 0 0 CPNE5 57699 broad.mit.edu 37 6 36710132 36710132 + Silent SNP C C A rs144328823 TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr6:36710132C>A uc003omr.1 - 21 1762 c.1695G>T c.(1693-1695)CCG>CCT p.P565P CPNE5_uc003omp.1_Silent_p.P273P|CPNE5_uc010jwn.1_Silent_p.P215P|CPNE5_uc003omq.1_Silent_p.P215P NM_020939 NP_065990 Q9HCH3 CPNE5_HUMAN copine V 565 skin(1) 1 GTGGGGGACGCGGGCGAATGC 0.682 NA 21 43 2.21704e-12 1.83799e-11 0.000375601 1 0 TTBK1 84630 broad.mit.edu 37 6 43251598 43251598 + Silent SNP C C A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr6:43251598C>A uc003ouq.1 + 14 3399 c.3120C>A c.(3118-3120)ATC>ATA p.I1040I NM_032538 NP_115927 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 1040 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) TGGCCACCATCTCCCCCAGAC 0.662 NA 9 32 9.70103e-10 7.42013e-09 0.000673444 1 0 GCLC 2729 broad.mit.edu 37 6 53365045 53365045 + Missense_Mutation SNP C C A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr6:53365045C>A uc003pbw.1 - 14 1969 c.1581G>T c.(1579-1581)AAG>AAT p.K527N GCLC_uc003pbv.1_Missense_Mutation_p.K251N NM_001498 NP_001489 P48506 GSH1_HUMAN glutamate-cysteine ligase, catalytic subunit 527 anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process cytosol ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding ovary(1)|central_nervous_system(1) 2 Lung NSC(77;0.0137) L-Cysteine(DB00151)|L-Glutamic Acid(DB00142) ACCCTCCTACCTTCCCATTGA 0.557 NA 25 54 3.28513e-13 2.83315e-12 0.000586117 1 0 CASP8AP2 9994 broad.mit.edu 37 6 90577242 90577242 + Silent SNP G G T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr6:90577242G>T uc003pnr.2 + 8 4429 c.4233G>T c.(4231-4233)GTG>GTT p.V1411V CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Silent_p.V1411V|CASP8AP2_uc011dzz.1_Silent_p.V1411V NM_001137667 NP_001131139 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 1411 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity ovary(2) 2 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) TGTTTGAAGTGTCTACTAACC 0.383 Colon(187;1656 2025 17045 31481 39901) NA 35 43 1.36161e-19 1.27713e-18 0.000814825 1 0 HEY2 23493 broad.mit.edu 37 6 126080624 126080624 + Silent SNP G G A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr6:126080624G>A uc003qad.2 + 5 881 c.690G>A c.(688-690)ACG>ACA p.T230T HEY2_uc011ebr.1_Silent_p.T184T NM_012259 NP_036391 Q9UBP5 HEY2_HUMAN hairy/enhancer-of-split related with YRPW motif 230 negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent transcriptional repressor complex histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding breast(1) 1 UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193) TCACGGCCACGTTTGCCCATG 0.642 NA 37 215 0 0 0.00148497 0 0 SYNE1 23345 broad.mit.edu 37 6 152651835 152651835 + Missense_Mutation SNP T T A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr6:152651835T>A uc010kiw.2 - 78 14587 c.13985A>T c.(13984-13986)AAG>ATG p.K4662M SYNE1_uc003qot.3_Missense_Mutation_p.K4591M|SYNE1_uc003qou.3_Missense_Mutation_p.K4662M|SYNE1_uc010kiz.2_Missense_Mutation_p.K417M NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4662 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TTTATAGAACTTGTCTTTAGC 0.403 NA HNSCC(10;0.0054) 22 72 0 0 0.000295444 0 0 TULP4 56995 broad.mit.edu 37 6 158919845 158919845 + Splice_Site SNP G G A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr6:158919845G>A uc003qrf.2 + 12 3371 c.2014_splice c.e12+1 p.V672_splice TULP4_uc003qrg.2_Splice_Site_p.G672_splice NM_020245 NP_064630 Q9NRJ4 TULP4_HUMAN tubby like protein 4 isoform 1 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) GATTTACCAGGTGTGTTCACA 0.423 NA 6 110 0 0 0.000442599 0 0 LPA 4018 broad.mit.edu 37 6 161020611 161020611 + Missense_Mutation SNP C C G TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr6:161020611C>G uc003qtl.2 - 21 3328 c.3208G>C c.(3208-3210)GTC>CTC p.V1070L NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 3578 Kringle 32. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity ovary(3)|skin(2)|pancreas(1) 6 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) CTTCCTGTGACAGTGGTGGAG 0.483 NA 163 274 0 0 0.000781405 0 0 WDR27 253769 broad.mit.edu 37 6 170068177 170068177 + Silent SNP C C G TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr6:170068177C>G uc003qwx.2 - 5 1081 c.561G>C c.(559-561)CGG>CGC p.R187R WDR27_uc010kkw.1_Silent_p.R187R|WDR27_uc003qwy.2_Intron|WDR27_uc011egw.1_Intron A2RRH5 WDR27_HUMAN RecName: Full=WD repeat-containing protein 27; 157 pancreas(1) 1 Breast(66;1.53e-05)|Ovarian(120;0.216) OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168) GCAGCTCGGCCCGAACAGCCT 0.577 NA 7 19 0 0 0.000157383 0 0 GLI3 2737 broad.mit.edu 37 7 42005353 42005353 + Silent SNP T T A rs148780793 TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr7:42005353T>A uc011kbh.1 - 15 3409 c.3318A>T c.(3316-3318)GCA>GCT p.A1106A GLI3_uc011kbg.1_Silent_p.A1047A NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 1106 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 GCTCGTACCCTGCTTGGTTCT 0.622 NA Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome 18 68 0 0 0.000958276 0 0 ZNF716 441234 broad.mit.edu 37 7 57529325 57529325 + Silent SNP C C G TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr7:57529325C>G uc011kdi.1 + 4 1270 c.1158C>G c.(1156-1158)GGC>GGG p.G386G NM_001159279 NP_001152751 zinc finger protein 716 ovary(2) 2 AAGAATGTGGCAAAGCCTTTA 0.418 NA 12 24 0 0 0.000978159 0 0 MUC17 140453 broad.mit.edu 37 7 100677772 100677772 + Silent SNP C C A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr7:100677772C>A uc003uxp.1 + 3 3128 c.3075C>A c.(3073-3075)CCC>CCA p.P1025P MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 1025 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|15. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) CACCTCCTCCCACTGCTGAAG 0.512 NA 11 447 0.00136819 0.00829306 0.00136819 1 0 SLC26A4 5172 broad.mit.edu 37 7 107315451 107315451 + Missense_Mutation SNP G G T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr7:107315451G>T uc003vep.2 + 6 886 c.662G>T c.(661-663)GGT>GTT p.G221V NM_000441 NP_000432 O43511 S26A4_HUMAN pendrin 221 Helical; (Potential). regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity ovary(3)|central_nervous_system(2)|skin(2) 7 CCTTTGGTTGGTGGCTTCACA 0.408 NA Pendred_syndrome 57 117 7.38948e-41 7.84751e-40 0.000781405 1 0 LAMB4 22798 broad.mit.edu 37 7 107732132 107732132 + Missense_Mutation SNP G G A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr7:107732132G>A uc010ljo.1 - 14 1724 c.1640C>T c.(1639-1641)CCT>CTT p.P547L LAMB4_uc003vey.2_Missense_Mutation_p.P547L NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN laminin, beta 4 precursor 547 Laminin EGF-like 5; truncated.|Laminin IV type B. cell adhesion basement membrane ovary(4)|breast(2)|large_intestine(1)|skin(1) 8 GAAATTCAAAGGAGCAAAGAA 0.502 NA 17 78 0 0 0.000422831 0 0 PRSS1 5644 broad.mit.edu 37 7 142460344 142460344 + Missense_Mutation SNP G G C TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr7:142460344G>C uc003wak.2 + 4 534 c.517G>C c.(517-519)GCC>CCC p.A173P uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc003wam.2_Missense_Mutation_p.A113P NM_002769 NP_002760 P07477 TRY1_HUMAN protease, serine, 1 preproprotein 173 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity large_intestine(1)|central_nervous_system(1) 2 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) TAAGTGTGAAGCCTCCTACCC 0.522 NA Hereditary_Pancreatitis 27 291 0 0 0.00128727 0 0 TRPV6 55503 broad.mit.edu 37 7 142572292 142572292 + Missense_Mutation SNP G G C TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr7:142572292G>C uc003wbx.1 - 11 1620 c.1404C>G c.(1402-1404)TTC>TTG p.F468L TRPV6_uc003wbw.1_Missense_Mutation_p.F254L|TRPV6_uc010lou.1_Missense_Mutation_p.F339L NM_018646 NP_061116 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, 468 Helical; (Potential). regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding ovary(2) 2 Melanoma(164;0.059) ATCCTCGGGCGAAGTACATGA 0.572 NA 10 76 0 0 0.000442599 0 0 FAM131B 9715 broad.mit.edu 37 7 143054005 143054005 + Missense_Mutation SNP C C A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr7:143054005C>A uc003wct.2 - 6 2343 c.637G>T c.(637-639)GCC>TCC p.A213S FAM131B_uc010loz.2_Missense_Mutation_p.A181S|FAM131B_uc003wcu.3_Missense_Mutation_p.A213S|FAM131B_uc010lpa.2_Missense_Mutation_p.A241S NM_014690 NP_055505 Q86XD5 F131B_HUMAN hypothetical protein LOC9715 isoform b 213 0 Melanoma(164;0.205) GCCGGAGAGGCAATGAGGGAC 0.552 NA 25 33 3.08376e-08 2.21376e-07 0.00047179 1 0 ABCB8 11194 broad.mit.edu 37 7 150730846 150730846 + Missense_Mutation SNP C C A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr7:150730846C>A uc003wil.3 + 3 394 c.301C>A c.(301-303)CTG>ATG p.L101M ABCB8_uc003wii.2_Missense_Mutation_p.L121M|ABCB8_uc003wij.3_Missense_Mutation_p.L84M|ABCB8_uc010lpw.1_Intron|ABCB8_uc010lpx.2_Missense_Mutation_p.L84M|ABCB8_uc011kvd.1_Intron|ABCB8_uc003wim.3_Intron|ABCB8_uc003wik.3_Missense_Mutation_p.L84M NM_007188 NP_009119 Q9NUT2 ABCB8_HUMAN ATP-binding cassette, sub-family B, member 8 101 Helical; (Potential). 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) CCCCATGGTACTGAGTAAGCA 0.657 NA 9 57 3.86212e-05 0.000248141 0.000673444 1 0 KCNU1 157855 broad.mit.edu 37 8 36766902 36766902 + Missense_Mutation SNP C C A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr8:36766902C>A uc010lvw.2 + 21 2267 c.2180C>A c.(2179-2181)GCC>GAC p.A727D KCNU1_uc003xjw.2_RNA NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 727 Segment S9.|Cytoplasmic (Potential). voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) GCCCACTCAGCCCCGATGGGG 0.468 NA 158 125 3.59702e-68 3.85181e-67 0.000781405 1 0 PXDNL 137902 broad.mit.edu 37 8 52321470 52321470 + Missense_Mutation SNP C C G TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr8:52321470C>G uc003xqu.3 - 17 2815 c.2714G>C c.(2713-2715)CGG>CCG p.R905P PXDNL_uc003xqt.3_RNA NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 905 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CTGGGATTCCCGCTCCGAGCT 0.582 NA 9 47 0 0 0.000673444 0 0 LYN 4067 broad.mit.edu 37 8 56911984 56911984 + Missense_Mutation SNP G G C TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr8:56911984G>C uc003xsk.3 + 12 1494 c.1212G>C c.(1210-1212)AAG>AAC p.K404N LYN_uc003xsl.3_Missense_Mutation_p.K383N NM_002350 NP_002341 P07948 LYN_HUMAN Yamaguchi sarcoma viral (v-yes-1) oncogene 404 Protein kinase. erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity ovary(1)|breast(1)|central_nervous_system(1) 3 all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772) Epithelial(17;0.000834)|all cancers(17;0.00598) TAGGTGCTAAGTTCCCTATTA 0.353 NA 9 128 0 0 0.000978159 0 0 TRPA1 8989 broad.mit.edu 37 8 72970051 72970051 + Nonsense_Mutation SNP C C A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr8:72970051C>A uc003xza.2 - 9 1169 c.994G>T c.(994-996)GGA>TGA p.G332* NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 332 ANK 8.|Cytoplasmic (Potential). integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) ATATCTGCTCCCTAAAAATCA 0.323 NA 32 31 2.85442e-18 2.60136e-17 0.000339439 1 0 RGS22 26166 broad.mit.edu 37 8 100975116 100975116 + Missense_Mutation SNP C C A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr8:100975116C>A uc003yjb.1 - 25 3901 c.3706G>T c.(3706-3708)GCA>TCA p.A1236S RGS22_uc003yja.1_Missense_Mutation_p.A1055S|RGS22_uc003yjc.1_Missense_Mutation_p.A1224S NM_015668 NP_056483 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 1236 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) AAATTACCTGCAAACAACTTT 0.308 NA 5 78 0.000602214 0.00370261 0.000602214 1 0 TRPS1 7227 broad.mit.edu 37 8 116426987 116426987 + Missense_Mutation SNP A A T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr8:116426987A>T uc003ynz.2 - 6 3569 c.3110T>A c.(3109-3111)ATT>AAT p.I1037N TRPS1_uc011lhy.1_Missense_Mutation_p.I1041N|TRPS1_uc003yny.2_Missense_Mutation_p.I1050N|TRPS1_uc010mcy.2_Missense_Mutation_p.I1037N NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 1037 Mediates interaction with RNF4 (By similarity). negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) TTTTATCTGAATGTGCAAAGG 0.448 NA Langer-Giedion_syndrome 18 190 0 0 0.000958276 0 0 TRPS1 7227 broad.mit.edu 37 8 116632147 116632147 + Missense_Mutation SNP C C A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr8:116632147C>A uc003ynz.2 - 2 598 c.139G>T c.(139-141)GAT>TAT p.D47Y TRPS1_uc011lhy.1_Missense_Mutation_p.D51Y|TRPS1_uc003yny.2_Missense_Mutation_p.D60Y|TRPS1_uc010mcy.2_Missense_Mutation_p.D47Y NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 47 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) TCACTCTGATCCGTATTTTCT 0.428 NA Langer-Giedion_syndrome 62 46 1.69475e-38 1.78505e-37 0.000781405 1 0 FAM135B 51059 broad.mit.edu 37 8 139255183 139255183 + Splice_Site SNP A A G TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr8:139255183A>G uc003yuy.2 - 7 840 c.669_splice c.e7+1 p.E223_splice FAM135B_uc003yux.2_Splice_Site_p.E124_splice|FAM135B_uc003yuz.2_Splice_Site NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 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) CACAGGCCTTACCTCTGAGGA 0.458 NA HNSCC(54;0.14) 14 110 0 0 0.00074312 0 0 EPPK1 83481 broad.mit.edu 37 8 144940555 144940555 + Silent SNP C C G TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr8:144940555C>G uc003zaa.1 - 2 14890 c.14877G>C c.(14875-14877)GCG>GCC p.A4959A NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 4959 Plectin 62. cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCACCACGCCCGCGGCCACGG 0.726 NA 8 98 0 0 0.000673444 0 0 PTPRD 5789 broad.mit.edu 37 9 8486234 8486234 + Silent SNP G G C TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr9:8486234G>C uc003zkk.2 - 27 3294 c.2583C>G c.(2581-2583)GGC>GGG p.G861G PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Silent_p.G852G|PTPRD_uc003zkm.2_Silent_p.G848G|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 861 Fibronectin type-III 6.|Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TATCCTTGCGGCCAAATTTTA 0.468 NA TSP Lung(15;0.13) 42 38 0 0 0.000437636 0 0 Unknown 0 broad.mit.edu 37 9 69440203 69440203 + Missense_Mutation SNP A A G TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr9:69440203A>G uc010mnx.1 + 3 456 c.287A>G c.(286-288)CAT>CGT p.H96R NM_001098806 NP_001092276 coiled-coil domain containing 29 NA CTTAAGACACATATGGAAAAC 0.299 NA 31 51 0 0 0.00178596 0 0 ASTN2 23245 broad.mit.edu 37 9 119977013 119977013 + Silent SNP G G T rs7856949 TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr9:119977013G>T uc004bjs.1 - 3 740 c.639C>A c.(637-639)CTC>CTA p.L213L ASTN2_uc004bjr.1_Silent_p.L213L|ASTN2_uc004bjt.1_Silent_p.L213L NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 213 Helical; (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 GCAGCGCGATGAGGCCACCCT 0.612 NA 10 33 2.68362e-12 2.21055e-11 0.00136819 1 0 ASTN2 23245 broad.mit.edu 37 9 120053696 120053696 + Missense_Mutation SNP G G T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr9:120053696G>T uc004bjs.1 - 2 640 c.539C>A c.(538-540)TCC>TAC p.S180Y ASTN2_uc004bjr.1_Missense_Mutation_p.S180Y|ASTN2_uc004bjt.1_Missense_Mutation_p.S180Y NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 180 Extracellular (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 CAGCTGCCCGGAGCTGCTCAT 0.592 NA 13 43 3.27435e-08 2.33752e-07 0.000219431 1 0 RC3H2 54542 broad.mit.edu 37 9 125618088 125618088 + Missense_Mutation SNP C C A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr9:125618088C>A uc010mwc.1 - 14 2765 c.2524G>T c.(2524-2526)GGC>TGC p.G842C RC3H2_uc004bnc.2_RNA|RC3H2_uc004bnd.1_Missense_Mutation_p.G842C|RC3H2_uc004bne.3_Missense_Mutation_p.G842C NM_001100588 NP_001094058 Q9HBD1 RC3H2_HUMAN ring finger and CCCH-type zinc finger domains 2 842 cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm DNA binding|zinc ion binding ovary(2)|lung(2) 4 CCTATGGTGCCACAAGACCAG 0.378 NA 14 55 1.05317e-09 7.96073e-09 0.000219431 1 0 ABO 28 broad.mit.edu 37 9 136135254 136135254 + Missense_Mutation SNP G G A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr9:136135254G>A uc004cda.1 - 4 197 c.172C>T c.(172-174)CCT>TCT p.P58S ABO_uc010naf.1_5'UTR|ABO_uc011mcz.1_5'UTR|ABO_uc010nag.1_5'UTR NM_020469 NP_065202 P16442 BGAT_HUMAN ABO blood group (alpha 58 Lumenal (Potential). protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding 0 OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05) AGATGGTCAGGTTCCCTAACA 0.532 NA 5 13 0 0 0.000442599 0 0 TMEM27 57393 broad.mit.edu 37 X 15657827 15657827 + Missense_Mutation SNP C C G TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chrX:15657827C>G uc004cxc.1 - 5 626 c.370G>C c.(370-372)GAA>CAA p.E124Q NM_020665 NP_065716 Q9HBJ8 TMM27_HUMAN transmembrane protein 27 precursor 124 Extracellular (Potential). proteolysis integral to membrane metallopeptidase activity|peptidyl-dipeptidase activity ovary(1) 1 Hepatocellular(33;0.183) TTTAAAAATTCCAGAGTTTGG 0.338 NA 62 96 0 0 0.000781405 0 0 GJB1 2705 broad.mit.edu 37 X 70444128 70444128 + Missense_Mutation SNP A A T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chrX:70444128A>T uc004dzf.3 + 2 666 c.571A>T c.(571-573)ACC>TCC p.T191S BCYRN1_uc011mpt.1_Intron|GJB1_uc004dzg.3_Missense_Mutation_p.T191S NM_001097642 NP_001091111 P08034 CXB1_HUMAN gap junction protein, beta 1, 32kDa 191 Extracellular (Probable). Missing (in CMTX1).|T -> A (in CMTX1). cell-cell signaling|cellular membrane organization|gap junction assembly|nervous system development connexon complex|endoplasmic reticulum membrane|integral to membrane gap junction channel activity breast(1) 1 Renal(35;0.156) AACCGTCTTCACCGTCTTCAT 0.632 NA 5 46 0 0 0.000157383 0 0 TAF1 6872 broad.mit.edu 37 X 70595136 70595136 + Nonsense_Mutation SNP G G T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chrX:70595136G>T uc004dzu.3 + 4 583 c.532G>T c.(532-534)GAG>TAG p.E178* BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.V178L NM_138923 NP_620278 P21675 TAF1_HUMAN TBP-associated factor 1 isoform 2 178 Protein kinase 1. G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1) 17 Renal(35;0.156) all_lung(315;0.000321) TATTACTGGTGGTAAGTAGAG 0.443 NA 8 47 1.12685e-05 7.54168e-05 0.000274275 1 0 BTK 695 broad.mit.edu 37 X 100617598 100617598 + Missense_Mutation SNP C C A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chrX:100617598C>A uc004ehg.2 - 6 664 c.471G>T c.(469-471)CAG>CAT p.Q157H BTK_uc010nnn.2_Missense_Mutation_p.Q157H|BTK_uc010nno.2_Missense_Mutation_p.Q191H|BTK_uc004ehi.2_Missense_Mutation_p.Q157H NM_000061 NP_000052 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 157 Btk-type. calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding lung(3)|central_nervous_system(2)|ovary(1) 6 TTTTGGCTGTCTGAGAGCAGC 0.433 NA Agammaglobulinemia_X-linked 49 81 2.9001e-28 2.93436e-27 0.000781405 1 0 BTK 695 broad.mit.edu 37 X 100617612 100617612 + Missense_Mutation SNP G G A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chrX:100617612G>A uc004ehg.2 - 6 650 c.457C>T c.(457-459)CTC>TTC p.L153F BTK_uc010nnn.2_Missense_Mutation_p.L153F|BTK_uc010nno.2_Missense_Mutation_p.L187F|BTK_uc004ehi.2_Missense_Mutation_p.L153F NM_000061 NP_000052 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 153 Btk-type. calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding lung(3)|central_nervous_system(2)|ovary(1) 6 GAGCAGCAGAGATACTGCCCA 0.433 NA Agammaglobulinemia_X-linked 46 97 0 0 0.000781405 0 0 MUM1L1 139221 broad.mit.edu 37 X 105449717 105449717 + Missense_Mutation SNP A A G TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chrX:105449717A>G uc004emf.1 + 4 941 c.292A>G c.(292-294)AAT>GAT p.N98D MUM1L1_uc004emg.1_Missense_Mutation_p.N98D NM_152423 NP_689636 Q5H9M0 MUML1_HUMAN melanoma associated antigen (mutated) 1-like 1 98 ovary(2)|pancreas(1)|skin(1) 4 GGGTATTCTGAATGAGAGAAC 0.453 NA 23 23 0 0 0.000586117 0 0 GUCY2F 2986 broad.mit.edu 37 X 108619377 108619377 + Missense_Mutation SNP G G T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chrX:108619377G>T uc004eod.3 - 18 3446 c.3170C>A c.(3169-3171)ACC>AAC p.T1057N GUCY2F_uc011msq.1_RNA NM_001522 NP_001513 P51841 GUC2F_HUMAN guanylate cyclase 2F precursor 1057 Cytoplasmic (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 CAGCCAGAAGGTTTCCTCTGT 0.408 NA 7 169 6.5536e-12 5.29646e-11 0.000157383 1 0 ACSL4 2182 broad.mit.edu 37 X 108904811 108904811 + Missense_Mutation SNP G G T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chrX:108904811G>T uc004eoi.2 - 15 2274 c.1769C>A c.(1768-1770)GCT>GAT p.A590D ACSL4_uc004eoj.2_Missense_Mutation_p.A549D|ACSL4_uc004eok.2_Missense_Mutation_p.A549D NM_022977 NP_075266 O60488 ACSL4_HUMAN acyl-CoA synthetase long-chain family member 4 590 Cytoplasmic (Potential). fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity large_intestine(1)|lung(1)|ovary(1) 3 Icosapent(DB00159)|Troglitazone(DB00197) CTTCAGTGCAGCTTCTACTTT 0.333 Pancreas(188;358 2127 38547 41466 45492) NA 8 97 2.74318e-10 2.12349e-09 0.000442599 1 0 ODZ1 10178 broad.mit.edu 37 X 123587225 123587225 + Missense_Mutation SNP G G T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chrX:123587225G>T uc004euj.2 - 22 4109 c.4045C>A c.(4045-4047)CAA>AAA p.Q1349K ODZ1_uc011muj.1_Missense_Mutation_p.Q1355K|ODZ1_uc010nqy.2_Missense_Mutation_p.Q1356K NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 1349 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 CTCAGTGGTTGTGTGGAAGTC 0.403 NA 51 69 4.02871e-13 3.45126e-12 0.000781405 1 0 DCAF12L1 139170 broad.mit.edu 37 X 125685331 125685331 + Missense_Mutation SNP A A T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chrX:125685331A>T uc004eul.2 - 1 1512 c.1261T>A c.(1261-1263)TTT>ATT p.F421I NM_178470 NP_848565 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 421 skin(3)|ovary(1) 4 ATGCCACCAAAGTAATTCACC 0.577 NA 13 131 0 0 0.000308642 0 0 UBE2NL 389898 broad.mit.edu 37 X 142967567 142967567 + Missense_Mutation SNP T T C TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chrX:142967567T>C uc004fca.2 + 1 395 c.365T>C c.(364-366)TTA>TCA p.L122S NM_001012989 NP_001013007 Q5JXB2 UE2NL_HUMAN ubiquitin-conjugating enzyme E2N-like 122 acid-amino acid ligase activity 0 Acute lymphoblastic leukemia(192;6.56e-05) GATGATCCATTAGCAAATGAT 0.438 NA 3 127 0 0 6.4e-05 0 0 AFF2 2334 broad.mit.edu 37 X 148048494 148048494 + Missense_Mutation SNP A A G rs149653283 byFrequency TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chrX:148048494A>G uc004fcp.2 + 14 3567 c.3088A>G c.(3088-3090)ATC>GTC p.I1030V AFF2_uc004fcq.2_Missense_Mutation_p.I1020V|AFF2_uc004fcr.2_Missense_Mutation_p.I991V|AFF2_uc011mxb.1_Missense_Mutation_p.I995V|AFF2_uc004fcs.2_Missense_Mutation_p.I995V|AFF2_uc011mxc.1_Missense_Mutation_p.I671V NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 1030 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) cacctctaccatcactacTGG 0.279 NA 10 165 0 0 0.00136819 0 0 KCNA4 3739 broad.mit.edu 37 11 30033550 30033551 + Frame_Shift_Ins INS - - T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr11:30033550_30033551insT uc001msk.2 - 2 1827_1828 c.675_676insA c.(673-678)CGCCCCfs p.R225fs NM_002233 NP_002224 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related 225_226 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 TCAAAGCTGGGGCGGTTCCTGT 0.465 NA 47 91 --- --- --- --- NA NA NA NA NA OR5M8 219484 broad.mit.edu 37 11 56258610 56258611 + Frame_Shift_Ins INS - - T rs142855645 byFrequency TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr11:56258610_56258611insT uc001nix.1 - 1 236_237 c.236_237insA c.(235-237)AAGfs p.K79fs NM_001005282 NP_001005282 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, 79 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Esophageal squamous(21;0.00352) TCTCCAGCATCTTTGGAGTCAC 0.47 NA 34 83 --- --- --- --- NA NA NA NA NA IL1RL1 9173 broad.mit.edu 37 2 102955384 102955387 + Frame_Shift_Del DEL ACTC ACTC - TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 ACTC ACTC - - ACTC ACTC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr2:102955384_102955387delACTC uc002tbu.1 + 3 420_423 c.149_152delACTC c.(148-153)TACTCAfs p.Y50fs IL1RL1_uc010ywa.1_Intron|IL18R1_uc002tbw.3_Intron|IL1RL1_uc002tbv.2_Frame_Shift_Del_p.Y50fs NM_016232 NP_057316 Q01638 ILRL1_HUMAN interleukin 1 receptor-like 1 isoform 1 50_51 Extracellular (Potential).|Ig-like C2-type 1. innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity skin(2)|ovary(1)|central_nervous_system(1) 4 GATTGGTATTACTCACAAACAAAC 0.407 NA 15 179 --- --- --- --- NA NA NA NA NA ABCB8 11194 broad.mit.edu 37 7 150737715 150737720 + In_Frame_Del DEL GCTTCA GCTTCA - TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 GCTTCA GCTTCA - - GCTTCA GCTTCA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr7:150737715_150737720delGCTTCA uc003wil.3 + 12 1526_1531 c.1433_1438delGCTTCA c.(1432-1440)TGCTTCAGC>TGC p.FS479del ABCB8_uc010lpw.1_In_Frame_Del_p.350_352CFR>W|ABCB8_uc010lpx.2_In_Frame_Del_p.FS462del|ABCB8_uc011kvd.1_In_Frame_Del_p.FS374del|ABCB8_uc003wim.3_In_Frame_Del_p.FS257del|ABCB8_uc003wik.3_In_Frame_Del_p.FS462del NM_007188 NP_009119 Q9NUT2 ABCB8_HUMAN ATP-binding cassette, sub-family B, member 8 479_480 ABC transporter. 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) CAGAACGTCTGCTTCAGGTCAGCACG 0.612 NA 9 85 --- --- --- --- NA NA NA NA NA C9orf125 84302 broad.mit.edu 37 9 104238991 104238991 + Frame_Shift_Del DEL A A - TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fe7172ec-464d-4ca9-aac9-0601accd7a0f 2baaa8cf-1477-43eb-a90f-53ff108d6185 g.chr9:104238991delA uc004bbm.2 - 2 706 c.384delT c.(382-384)CTTfs p.L128fs uc004bbl.1_5'Flank NM_032342 NP_115718 Q9BRR3 CI125_HUMAN hypothetical protein LOC84302 128 integral to membrane 0 Acute lymphoblastic leukemia(62;0.0527) ATTGCTGAAGAAGCCGGTGGA 0.592 NA 13 63 --- --- --- --- NA NA NA NA NA