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 CASZ1 54897 broad.mit.edu 37 1 10725565 10725565 + Missense_Mutation SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:10725565C>T uc001aro.2 - 5 400 c.80G>A c.(79-81)GGT>GAT p.G27D CASZ1_uc001arp.1_Missense_Mutation_p.G27D|CASZ1_uc009vmx.2_Missense_Mutation_p.G51D NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN castor homolog 1, zinc finger isoform a 27 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding skin(1) 1 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) CTTCAGGCCACCCTTGCGTTT 0.692 NA 2 1 0 0 0.004672 0 0 AKR7A3 22977 broad.mit.edu 37 1 19610596 19610596 + Missense_Mutation SNP T T A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:19610596T>A uc001bbv.1 - 6 805 c.728A>T c.(727-729)GAG>GTG p.E243V NM_012067 NP_036199 O95154 ARK73_HUMAN aldo-keto reductase family 7, member A3 243 cellular aldehyde metabolic process cytosol aldo-keto reductase (NADP) activity|electron carrier activity 0 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GGCAATGCCCTCAAAGTGGTG 0.647 NA 12 6 0 0 0.00245 0 0 ARID1A 8289 broad.mit.edu 37 1 27106171 27106171 + Nonsense_Mutation SNP A A T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:27106171A>T uc001bmv.1 + 20 6155 c.5782A>T c.(5782-5784)AAG>TAG p.K1928* ARID1A_uc001bmu.1_Nonsense_Mutation_p.K1711*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.K774*|ARID1A_uc009vsm.1_Nonsense_Mutation_p.K256*|ARID1A_uc009vsn.1_Nonsense_Mutation_p.K170* NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 1928 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GGATGGAGCTAAGAGTTCAGA 0.542 NA Mis|N|F|S|D clear cell ovarian carcinoma|RCC 174 157 0 0 0.00361 0 0 TMEM222 84065 broad.mit.edu 37 1 27658583 27658583 + Missense_Mutation SNP A A T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:27658583A>T uc001bnr.3 + 3 355 c.302A>T c.(301-303)AAG>ATG p.K101M TMEM222_uc001bns.3_RNA|TMEM222_uc001bnt.3_RNA|TMEM222_uc001bnu.3_RNA NM_032125 NP_115501 Q9H0R3 TM222_HUMAN transmembrane protein 222 101 Cytoplasmic (Potential). K -> E (in Ref. 5; BAD96362). integral to membrane protein binding 0 GCCTTTGGAAAGCCTGCCAAG 0.577 NA 82 72 0 0 0.00361 0 0 PHACTR4 65979 broad.mit.edu 37 1 28807101 28807101 + Missense_Mutation SNP G G A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:28807101G>A uc001bpw.2 + 9 2027 c.1745G>A c.(1744-1746)GGA>GAA p.G582E PHACTR4_uc001bpv.1_RNA|PHACTR4_uc001bpx.2_Missense_Mutation_p.G566E|PHACTR4_uc001bpy.2_Missense_Mutation_p.G592E NM_001048183 NP_001041648 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 isoform 1 582 actin binding|protein phosphatase inhibitor activity 0 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) CACCAGATTGGAAACACACTG 0.403 NA 69 258 0 0 0.00361 0 0 DCDC2B 149069 broad.mit.edu 37 1 32678391 32678391 + Silent SNP G G A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:32678391G>A uc001bun.2 + 6 711 c.711G>A c.(709-711)CAG>CAA p.Q237Q NM_001099434 NP_001092904 A2VCK2 DCD2B_HUMAN doublecortin domain containing 2B 237 intracellular signal transduction 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) CCCACAGGCAGGGGGTAGGTG 0.552 NA 12 44 0 0 0.004007 0 0 AK2 204 broad.mit.edu 37 1 33478994 33478994 + Missense_Mutation SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:33478994C>T uc001bwp.1 - 6 550 c.508G>A c.(508-510)GAA>AAA p.E170K uc001bwn.2_Intron|AK2_uc001bwo.1_Missense_Mutation_p.E170K|AK2_uc010ohq.1_Missense_Mutation_p.E162K|AK2_uc009vud.1_Missense_Mutation_p.E128K|AK2_uc010ohr.1_Missense_Mutation_p.E122K|AK2_uc001bwq.1_Missense_Mutation_p.E122K NM_001625 NP_001616 P54819 KAD2_HUMAN adenylate kinase 2 isoform a 170 nucleobase, nucleoside and nucleotide interconversion mitochondrial intermembrane space adenylate kinase activity|ATP binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) ATCAAGGGTTCCCCGGTGATC 0.473 NA 8 18 0 0 0.006214 0 0 SPATA6 54558 broad.mit.edu 37 1 48850997 48850997 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:48850997C>A uc001crr.1 - 9 1058 c.893G>T c.(892-894)CGA>CTA p.R298L SPATA6_uc001crs.1_Missense_Mutation_p.R298L|SPATA6_uc010omv.1_Missense_Mutation_p.R284L NM_019073 NP_061946 Q9NWH7 SPAT6_HUMAN spermatogenesis associated 6 precursor 298 cell differentiation|multicellular organismal development|spermatogenesis extracellular region ovary(1) 1 ATCCTTGGGTCGGCAGCAGCC 0.299 NA 9 40 0.006122 0.00632127 0.006122 1 0 CC2D1B 200014 broad.mit.edu 37 1 52821917 52821917 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:52821917C>A uc001ctq.1 - 18 2151 c.2013G>T c.(2011-2013)CAG>CAT p.Q671H CC2D1B_uc001ctr.2_Missense_Mutation_p.Q211H|CC2D1B_uc001cts.2_Missense_Mutation_p.Q356H NM_032449 NP_115825 Q5T0F9 C2D1B_HUMAN coiled-coil and C2 domain containing 1B 671 ovary(2) 2 GGCCCTGAGCCTGGGCCAGCT 0.567 NA 26 92 5.60225e-13 6.89415e-13 0.009535 1 0 LRRC40 55631 broad.mit.edu 37 1 70652948 70652948 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:70652948C>A uc001der.1 - 3 459 c.407G>T c.(406-408)AGC>ATC p.S136I NM_017768 NP_060238 Q9H9A6 LRC40_HUMAN leucine rich repeat containing 40 136 LRR 3. ovary(1) 1 TAATTTTTACCTGACATTAAG 0.249 NA 15 9 5.03518e-11 5.98977e-11 0.007413 1 0 MCOLN2 255231 broad.mit.edu 37 1 85418191 85418191 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:85418191C>A uc001dkm.2 - 5 829 c.588G>T c.(586-588)CAG>CAT p.Q196H MCOLN2_uc001dkn.2_RNA NM_153259 NP_694991 Q8IZK6 MCLN2_HUMAN mucolipin 2 196 integral to membrane ion channel activity ovary(3)|upper_aerodigestive_tract(1) 4 all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217) TGGAGAGGTCCTGAAGGTCTA 0.279 NA 59 35 3.41413e-29 4.9105e-29 0.00361 1 0 HSP90B3P 343477 broad.mit.edu 37 1 92109180 92109180 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:92109180G>T uc010osx.1 + 3 1207 c.1207G>T c.(1207-1209)GTG>TTG p.V403L NR_003130 SubName: Full=cDNA FLJ58812, highly similar to Endoplasmin (Heat shock protein 90kDa beta member 1); 0 GTGTGCTTTGGTGGCCAGCCA 0.473 NA 33 17 4.67007e-22 6.42556e-22 0.00874 1 0 COL11A1 1301 broad.mit.edu 37 1 103471410 103471410 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:103471410C>A uc001dul.2 - 18 2147 c.1829G>T c.(1828-1830)GGT>GTT p.G610V COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.G622V|COL11A1_uc001dun.2_Missense_Mutation_p.G571V|COL11A1_uc009weh.2_Missense_Mutation_p.G494V NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 610 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) ACCTTTGTCACCTGGCAGACC 0.308 NA 74 58 8.2166e-39 1.29247e-38 0.00361 1 0 VAV3 10451 broad.mit.edu 37 1 108315358 108315358 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:108315358G>T uc001dvk.1 - 5 608 c.554C>A c.(553-555)CCC>CAC p.P185H VAV3_uc010ouw.1_Missense_Mutation_p.P185H|VAV3_uc001dvl.1_Missense_Mutation_p.P9H|VAV3_uc010oux.1_Missense_Mutation_p.P185H NM_006113 NP_006104 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor isoform 185 angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(5)|lung(2)|breast(2) 9 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) AAGTCCTACGGGCTGATGTGC 0.348 NA 62 23 6.20203e-27 8.76575e-27 0.00361 1 0 NBPF7 343505 broad.mit.edu 37 1 120381810 120381810 + Silent SNP G G A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:120381810G>A uc010oxk.1 - 5 1456 c.835C>T c.(835-837)CTG>TTG p.L279L NM_001047980 NP_001041445 P0C2Y1 NBPF7_HUMAN hypothetical protein LOC343505 279 NBPF 1. cytoplasm ovary(1)|skin(1) 2 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347) Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544) AGGTTACCCAGAAGAATGTTT 0.388 NA 6 205 0 0 0.001984 0 0 NBPF7 343505 broad.mit.edu 37 1 120381813 120381813 + Missense_Mutation SNP G G A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:120381813G>A uc010oxk.1 - 5 1453 c.832C>T c.(832-834)CTT>TTT p.L278F NM_001047980 NP_001041445 P0C2Y1 NBPF7_HUMAN hypothetical protein LOC343505 278 NBPF 1. cytoplasm ovary(1)|skin(1) 2 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347) Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544) TTACCCAGAAGAATGTTTAGA 0.388 NA 7 227 0 0 0.004482 0 0 PIP5K1A 8394 broad.mit.edu 37 1 151171540 151171540 + Missense_Mutation SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:151171540C>T uc001exj.2 + 1 520 c.68C>T c.(67-69)TCC>TTC p.S23F PIP5K1A_uc001exi.2_Missense_Mutation_p.S23F|PIP5K1A_uc010pcu.1_Missense_Mutation_p.S23F|PIP5K1A_uc001exk.2_Missense_Mutation_p.S23F NM_001135638 NP_001129110 Q99755 PI51A_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type 23 phospholipid biosynthetic process|signal transduction endomembrane system|Golgi stack|lamellipodium|nuclear speck 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding ovary(1)|central_nervous_system(1)|skin(1) 3 Lung SC(34;0.00471)|Ovarian(49;0.0147)|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;0.181) GCGGTCCCTTCCTGTACCTTG 0.627 Pancreas(80;36 1443 2325 16095 21302) NA 24 17 0 0 0.004656 0 0 FLG 2312 broad.mit.edu 37 1 152285860 152285860 + Missense_Mutation SNP C C T rs145828067 TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:152285860C>T uc001ezu.1 - 3 1538 c.1502G>A c.(1501-1503)CGA>CAA p.R501Q uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 501 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGAGCTGTCTCGTGCCTGCTC 0.612 NA Ichthyosis 10 300 0 0 0.000978 0 0 FLG2 388698 broad.mit.edu 37 1 152329021 152329021 + Missense_Mutation SNP G G A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:152329021G>A uc001ezw.3 - 3 1314 c.1241C>T c.(1240-1242)TCC>TTC p.S414F uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 414 Ser-rich. calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATCACATTTGGAAAATTCATT 0.423 NA 45 158 0 0 0.00361 0 0 LCE2C 353140 broad.mit.edu 37 1 152648744 152648744 + Silent SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:152648744C>A uc001fah.2 + 2 308 c.253C>A c.(253-255)CGG>AGG p.R85R NM_178429 NP_848516 Q5TA81 LCE2C_HUMAN late cornified envelope 2C 85 Cys-rich. keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CCACCGGCGCCGGCACCAGAG 0.682 NA 11 12 4.96729e-08 5.62762e-08 0.008871 1 0 ILF2 3608 broad.mit.edu 37 1 153640105 153640105 + Missense_Mutation SNP G G A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:153640105G>A uc001fcr.2 - 6 401 c.320C>T c.(319-321)TCC>TTC p.S107F ILF2_uc010pdy.1_Missense_Mutation_p.S69F|ILF2_uc009wok.2_Missense_Mutation_p.S107F|ILF2_uc009wol.1_Missense_Mutation_p.S69F NM_004515 NP_004506 Q12905 ILF2_HUMAN interleukin enhancer binding factor 2 107 DZF. immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|ribonucleoprotein complex ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity 0 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) CTTTTTATAGGATCCCACCTG 0.448 NA 31 384 0 0 0.002522 0 0 INSRR 3645 broad.mit.edu 37 1 156812834 156812834 + Nonsense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:156812834C>A uc010pht.1 - 17 3342 c.3088G>T c.(3088-3090)GAA>TAA p.E1030* NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron NM_014215 NP_055030 P14616 INSRR_HUMAN insulin receptor-related receptor precursor 1030 Cytoplasmic (Potential).|Protein kinase. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1) 20 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) ACAGAAGCTTCCTTGAGGAAC 0.527 NA 42 48 1.0096e-33 1.51308e-33 0.00361 1 0 FCRL5 83416 broad.mit.edu 37 1 157516811 157516811 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:157516811C>A uc001fqu.2 - 3 387 c.229G>T c.(229-231)GTT>TTT p.V77F FCRL5_uc009wsm.2_Missense_Mutation_p.V77F|FCRL5_uc010phv.1_Missense_Mutation_p.V77F|FCRL5_uc010phw.1_Intron|FCRL5_uc001fqv.1_Missense_Mutation_p.V77F|FCRL5_uc010phx.1_5'UTR NM_031281 NP_112571 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 77 Extracellular (Potential).|Ig-like C2-type 1. integral to membrane|plasma membrane receptor activity ovary(3)|breast(2)|central_nervous_system(1) 6 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) GATTCCTGAACCTCAAGGATA 0.483 NA 21 34 0.000229342 0.000242508 0.001882 1 0 OR6N1 128372 broad.mit.edu 37 1 158736093 158736093 + Missense_Mutation SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:158736093C>T uc010piq.1 - 1 380 c.380G>A c.(379-381)TGC>TAC p.C127Y NM_001005185 NP_001005185 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, 127 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) GAGGGGCCGGCAGATGGCTAA 0.522 NA 47 46 0 0 0.00361 0 0 IFI16 3428 broad.mit.edu 37 1 159021844 159021844 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:159021844C>A uc001ftg.2 + 9 2163 c.1873C>A c.(1873-1875)CAA>AAA p.Q625K IFI16_uc010pis.1_Missense_Mutation_p.Q625K|IFI16_uc001fth.2_Missense_Mutation_p.Q168K|IFI16_uc010pit.1_Missense_Mutation_p.Q224K NM_005531 NP_005522 Q16666 IF16_HUMAN interferon, gamma-inducible protein 16 681 HIN-200 2. cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent cytoplasm|nuclear speck|nucleolus double-stranded DNA binding|protein binding ovary(1) 1 all_hematologic(112;0.0429) GCTTTGCTCACAAACTAAAGG 0.398 NA 4 28 1.23904e-05 1.34249e-05 0.000602 1 0 CADM3 57863 broad.mit.edu 37 1 159163301 159163301 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:159163301C>A uc001ftl.2 + 4 613 c.471C>A c.(469-471)AGC>AGA p.S157R CADM3_uc009wsx.1_Missense_Mutation_p.S191R|CADM3_uc009wsy.1_Missense_Mutation_p.S157R|CADM3_uc001ftk.2_Missense_Mutation_p.S191R NM_001127173 NP_001120645 Q8N126 CADM3_HUMAN cell adhesion molecule 3 isoform 2 157 Ig-like C2-type 1.|Extracellular (Potential). adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity ovary(2) 2 all_hematologic(112;0.0429) CTTCTGGGAGCAAGCCTGCAG 0.512 NA 26 37 4.4194e-11 5.26822e-11 0.002836 1 0 ATP1A2 477 broad.mit.edu 37 1 160100252 160100252 + Silent SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:160100252G>T uc001fvc.2 + 13 1824 c.1692G>T c.(1690-1692)CGG>CGT p.R564R ATP1A2_uc001fvb.2_Silent_p.R564R|ATP1A2_uc001fvd.2_Silent_p.R300R|ATP1A2_uc009wtg.1_Silent_p.R252R NM_000702 NP_000693 P50993 AT1A2_HUMAN Na+/K+ -ATPase alpha 2 subunit proprotein 564 Cytoplasmic (Potential). ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity central_nervous_system(3)|ovary(2)|skin(2) 7 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) AGTTTCCTCGGGGCTTCAAAT 0.552 NA 36 37 2.01872e-29 2.91082e-29 0.00361 1 0 F5 2153 broad.mit.edu 37 1 169513566 169513566 + Missense_Mutation SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:169513566C>T uc001ggg.1 - 12 2088 c.1943G>A c.(1942-1944)GGA>GAA p.G648E NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 648 Plastocyanin-like 4.|F5/8 type A 2. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) CACAGATTCTCCACGCATGGG 0.478 NA 54 229 0 0 0.00361 0 0 C1orf156 92342 broad.mit.edu 37 1 169762027 169762027 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:169762027C>A uc001ggn.2 - 2 1088 c.810G>T c.(808-810)TGG>TGT p.W270C C1orf112_uc001ggj.2_Intron|C1orf112_uc001ggo.2_5'Flank|uc010plt.1_5'Flank|C1orf112_uc001ggp.2_5'Flank|C1orf112_uc001ggq.2_5'Flank|C1orf112_uc009wvt.2_5'Flank NM_033418 NP_219486 O95568 MET18_HUMAN hypothetical protein MGC9084 270 cytoplasm protein methyltransferase activity 0 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AAAACTCAGACCACTCACCAG 0.328 NA 41 45 8.69298e-16 1.09574e-15 0.006999 1 0 TNN 63923 broad.mit.edu 37 1 175086125 175086125 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:175086125G>T uc001gkl.1 + 10 2283 c.2170G>T c.(2170-2172)GCC>TCC p.A724S NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 724 Fibronectin type-III 6. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) AGAGAATATGGCCACTGTCTC 0.537 NA 54 65 7.92265e-33 1.17808e-32 0.00361 1 0 SEC16B 89866 broad.mit.edu 37 1 177901902 177901902 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:177901902C>A uc001gli.1 - 23 2953 c.2863G>T c.(2863-2865)GGC>TGC p.G955C SEC16B_uc001glk.1_Missense_Mutation_p.G632C|SEC16B_uc009wwy.1_Intron|SEC16B_uc001glh.1_Missense_Mutation_p.G615C|SEC16B_uc009wwz.1_Missense_Mutation_p.G614C|SEC16B_uc001glj.1_Missense_Mutation_p.G956C NM_033127 NP_149118 Q96JE7 SC16B_HUMAN leucine zipper transcription regulator 2 955 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane ovary(3)|central_nervous_system(1) 4 AGTGAGAGGCCCAGGCCAGCC 0.587 NA 19 13 2.52088e-20 3.37892e-20 0.00278 1 0 ABL2 27 broad.mit.edu 37 1 179076967 179076967 + Silent SNP G G A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:179076967G>A uc001gmj.3 - 12 3722 c.3435C>T c.(3433-3435)CTC>CTT p.L1145L ABL2_uc010pnf.1_Silent_p.L1042L|ABL2_uc010png.1_Silent_p.L1021L|ABL2_uc010pnh.1_Silent_p.L1124L|ABL2_uc001gmg.3_Silent_p.L1027L|ABL2_uc001gmi.3_Silent_p.L1130L|ABL2_uc001gmh.3_Silent_p.L1109L|ABL2_uc010pne.1_Silent_p.L1006L NM_007314 NP_009298 P42684 ABL2_HUMAN arg tyrosine kinase isoform b 1145 F-actin-binding (By similarity). axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(8)|breast(3)|ovary(2)|central_nervous_system(1) 14 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) CCTGCAGGCTGAGTTCCAGTT 0.507 NA T ETV6 AML 4 46 0 0 0.009096 0 0 ABL2 27 broad.mit.edu 37 1 179079508 179079508 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:179079508C>A uc001gmj.3 - 11 2021 c.1734G>T c.(1732-1734)AAG>AAT p.K578N ABL2_uc010pnf.1_Missense_Mutation_p.K578N|ABL2_uc010png.1_Missense_Mutation_p.K557N|ABL2_uc010pnh.1_Missense_Mutation_p.K557N|ABL2_uc001gmg.3_Missense_Mutation_p.K563N|ABL2_uc001gmi.3_Missense_Mutation_p.K563N|ABL2_uc001gmh.3_Missense_Mutation_p.K542N|ABL2_uc010pne.1_Missense_Mutation_p.K542N NM_007314 NP_009298 P42684 ABL2_HUMAN arg tyrosine kinase isoform b 578 axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(8)|breast(3)|ovary(2)|central_nervous_system(1) 14 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) GTGTCCGAGTCTTGGAAGGAA 0.522 NA T ETV6 AML 69 164 4.8811e-34 7.3733e-34 0.00361 1 0 CACNA1E 777 broad.mit.edu 37 1 181684527 181684527 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:181684527G>T uc001gow.2 + 9 1390 c.1225G>T c.(1225-1227)GTG>TTG p.V409L CACNA1E_uc009wxs.2_Missense_Mutation_p.V316L NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 409 Cytoplasmic (Potential). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 CGCCTTAGAAGGTAAGGAAAT 0.383 NA 6 28 0.000157383 0.000167037 0.00308 1 0 GLRX2 51022 broad.mit.edu 37 1 193066850 193066850 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:193066850G>T uc001gsz.1 - 3 268 c.224C>A c.(223-225)ACA>AAA p.T75K GLRX2_uc001gta.1_Missense_Mutation_p.T76K NM_197962 NP_932066 Q9NS18 GLRX2_HUMAN glutaredoxin 2 isoform 2 75 Glutaredoxin. apoptosis|cell differentiation|cell redox homeostasis|DNA protection|electron transport chain|glutathione metabolic process|protein thiol-disulfide exchange|regulation of signal transduction|regulation of transcription, DNA-dependent|response to hydrogen peroxide|response to organic substance|response to redox state|response to temperature stimulus|transport mitochondrion|nucleus 2 iron, 2 sulfur cluster binding|arsenate reductase (glutaredoxin) activity|electron carrier activity|glutathione disulfide oxidoreductase activity|metal ion binding|protein disulfide oxidoreductase activity 0 Glutathione(DB00143) AGAACAGGATGTTTTTGAGAA 0.313 NA 5 16 6.5536e-12 7.92819e-12 0.00308 1 0 PIK3C2B 5287 broad.mit.edu 37 1 204394057 204394057 + Missense_Mutation SNP G G A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:204394057G>A uc001haw.2 - 34 5307 c.4828C>T c.(4828-4830)CGC>TGC p.R1610C PIK3C2B_uc010pqv.1_Missense_Mutation_p.R1582C NM_002646 NP_002637 O00750 P3C2B_HUMAN phosphoinositide-3-kinase, class 2 beta 1610 cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1) 7 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) TCTCGCAGGCGGATGTTCACC 0.637 NA 30 33 0 0 0.005524 0 0 LGTN 1939 broad.mit.edu 37 1 206784620 206784620 + Missense_Mutation SNP G G A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:206784620G>A uc001heh.2 - 2 373 c.164C>T c.(163-165)GCT>GTT p.A55V LGTN_uc009xbw.2_Missense_Mutation_p.A55V|LGTN_uc010prw.1_Missense_Mutation_p.A55V NM_006893 NP_008824 P41214 EIF2D_HUMAN ligatin 55 intracellular protein transport cytoplasm protein binding|receptor activity|translation initiation factor activity 0 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) CCCTTTGTGAGCATACAACTT 0.473 NA 38 149 0 0 0.005524 0 0 PROX1 5629 broad.mit.edu 37 1 214170382 214170382 + Silent SNP G G C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:214170382G>C uc001hkh.2 + 2 776 c.504G>C c.(502-504)CGG>CGC p.R168R PROX1_uc001hkg.1_Silent_p.R168R NM_002763 NP_002754 Q92786 PROX1_HUMAN prospero homeobox 1 168 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding ovary(3)|lung(1)|central_nervous_system(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) AGCGCGCCCGGGTTGAGAATA 0.532 NA 14 58 0 0 0.010504 0 0 KCNK2 3776 broad.mit.edu 37 1 215345403 215345403 + Missense_Mutation SNP T T G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:215345403T>G uc001hkq.2 + 5 869 c.700T>G c.(700-702)TGT>GGT p.C234G KCNK2_uc001hko.2_Missense_Mutation_p.C230G|KCNK2_uc009xdm.2_Intron|KCNK2_uc001hkp.2_RNA|KCNK2_uc010pua.1_RNA|KCNK2_uc001hkr.3_Missense_Mutation_p.C219G NM_001017425 NP_001017425 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 isoform 234 Helical; (Potential). outward rectifier potassium channel activity 0 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) ACTATTTGGCTGTGTACTCTT 0.393 NA 94 140 0 0 0.00361 0 0 KCTD3 51133 broad.mit.edu 37 1 215792515 215792515 + Nonsense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:215792515G>T uc001hks.2 + 17 2062 c.1768G>T c.(1768-1770)GAA>TAA p.E590* KCTD3_uc001hkt.2_Nonsense_Mutation_p.E588*|KCTD3_uc010pub.1_Nonsense_Mutation_p.E488*|KCTD3_uc009xdn.2_Nonsense_Mutation_p.E314* NM_016121 NP_057205 Q9Y597 KCTD3_HUMAN potassium channel tetramerisation domain 590 voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity ovary(3) 3 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) TCCAACCGAAGAAGAGCTACT 0.403 NA 51 157 2.5401e-28 3.64421e-28 0.00361 1 0 DISP1 84976 broad.mit.edu 37 1 223177391 223177391 + Silent SNP G G A rs138904556 by1000genomes TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:223177391G>A uc001hnu.1 + 8 2799 c.2652G>A c.(2650-2652)GAG>GAA p.E884E NM_032890 NP_116279 Q96F81 DISP1_HUMAN dispatched A 884 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity 0 GBM - Glioblastoma multiforme(131;0.102) ACAAGCAAGAGATTTTTGAAC 0.488 NA 13 51 0 0 0.00499 0 0 DISP1 84976 broad.mit.edu 37 1 223177398 223177398 + Missense_Mutation SNP G G A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:223177398G>A uc001hnu.1 + 8 2806 c.2659G>A c.(2659-2661)GAA>AAA p.E887K NM_032890 NP_116279 Q96F81 DISP1_HUMAN dispatched A 887 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity 0 GBM - Glioblastoma multiforme(131;0.102) AGAGATTTTTGAACTGTGCAT 0.478 NA 12 50 0 0 0.004007 0 0 GNPAT 8443 broad.mit.edu 37 1 231403468 231403468 + Silent SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:231403468C>T uc001hup.3 + 9 1304 c.1098C>T c.(1096-1098)GTC>GTT p.V366V GNPAT_uc009xfp.2_Silent_p.V305V NM_014236 NP_055051 O15228 GNPAT_HUMAN glyceronephosphate O-acyltransferase 366 ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis peroxisomal matrix|peroxisomal membrane glycerone-phosphate O-acyltransferase activity ovary(3)|breast(1) 4 Breast(184;0.0871) all_cancers(173;0.2)|Prostate(94;0.183) ATGCCTTTGTCACTGAAGTTG 0.433 NA 15 172 0 0 0.008871 0 0 LYST 1130 broad.mit.edu 37 1 235909776 235909776 + Missense_Mutation SNP C C T rs147536126 byFrequency TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:235909776C>T uc001hxj.2 - 29 8007 c.7832G>A c.(7831-7833)CGT>CAT p.R2611H LYST_uc009xga.1_Missense_Mutation_p.R247H NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 2611 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TGCCACTGAACGCATTTTCAT 0.408 NA Chediak-Higashsyndrome 35 42 0 0 0.00623 0 0 ACTN2 88 broad.mit.edu 37 1 236882306 236882306 + Silent SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:236882306C>T uc001hyf.2 + 3 558 c.354C>T c.(352-354)GGC>GGT p.G118G ACTN2_uc001hyg.2_5'UTR|ACTN2_uc009xgi.1_Silent_p.G118G NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 118 CH 1.|Actin-binding. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding ovary(4)|skin(1) 5 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) TGTCCATTGGCGCTGAAGGTG 0.512 NA 14 22 0 0 0.001882 0 0 RYR2 6262 broad.mit.edu 37 1 237664075 237664075 + Silent SNP T T C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:237664075T>C uc001hyl.1 + 21 2388 c.2268T>C c.(2266-2268)AGT>AGC p.S756S NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 756 Cytoplasmic (By similarity).|B30.2/SPRY 1. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ATGTCATCAGTTGCTGTTTAG 0.413 NA 172 484 0 0 0.00361 0 0 NLRP3 114548 broad.mit.edu 37 1 247597423 247597423 + Silent SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:247597423C>A uc001icr.2 + 7 2484 c.2346C>A c.(2344-2346)CTC>CTA p.L782L NLRP3_uc001ics.2_Silent_p.L782L|NLRP3_uc001icu.2_Silent_p.L782L|NLRP3_uc001icw.2_Silent_p.L725L|NLRP3_uc001icv.2_Silent_p.L725L|NLRP3_uc010pyw.1_Intron NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 782 LRR 2. 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) GCTGTGGCCTCTCGCATGAGT 0.562 NA 73 200 6.79372e-55 1.1477e-54 0.00361 1 0 OR2G2 81470 broad.mit.edu 37 1 247752207 247752207 + Silent SNP C C T rs146695930 byFrequency TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:247752207C>T uc010pyy.1 + 1 546 c.546C>T c.(544-546)TGC>TGT p.C182C NM_001001915 NP_001001915 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, 182 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) ATTTCATCTGCGAGGTCCCTG 0.537 NA 92 273 0 0 0.00361 0 0 OR2M4 26245 broad.mit.edu 37 1 248402554 248402554 + Silent SNP T T C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:248402554T>C uc010pzh.1 + 1 324 c.324T>C c.(322-324)CTT>CTC p.L108L NM_017504 NP_059974 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, 108 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2) 2 all_cancers(71;0.000124)|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;0.0245) TGTCCCTGCTTGGAGCTGAAT 0.463 NA 56 88 0 0 0.00361 0 0 ITIH5 80760 broad.mit.edu 37 10 7659106 7659106 + Silent SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr10:7659106G>T uc001ijq.2 - 6 871 c.792C>A c.(790-792)GTC>GTA p.V264V ITIH5_uc001ijp.2_Silent_p.V50V|ITIH5_uc001ijr.1_Silent_p.V264V NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN inter-alpha trypsin inhibitor heavy chain 264 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2) 4 GTTCTCTATTGACGTCATATC 0.403 NA 131 331 8.9487e-115 1.60683e-114 0.00361 1 0 OLAH 55301 broad.mit.edu 37 10 15106469 15106469 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr10:15106469C>A uc001inu.2 + 5 624 c.370C>A c.(370-372)CAT>AAT p.H124N ACBD7_uc010qby.1_Intron|OLAH_uc001int.2_Missense_Mutation_p.H177N NM_001039702 NP_001034791 Q9NV23 SAST_HUMAN oleoyl-ACP hydrolase isoform 2 124 fatty acid biosynthetic process myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity 0 AGAACCATTGCATTTATTTTT 0.373 NA 24 79 1.13719e-10 1.3416e-10 0.008361 1 0 ARMC3 219681 broad.mit.edu 37 10 23257283 23257283 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr10:23257283C>A uc001irm.3 + 8 864 c.781C>A c.(781-783)CTT>ATT p.L261I ARMC3_uc010qcv.1_Missense_Mutation_p.L261I|ARMC3_uc010qcw.1_5'UTR NM_173081 NP_775104 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 261 ARM 6. binding 0 AGCCAATTGCCTTGAAGACAT 0.358 NA 109 225 4.30233e-46 6.99895e-46 0.00361 1 0 ARHGAP12 94134 broad.mit.edu 37 10 32197269 32197269 + Missense_Mutation SNP T T A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr10:32197269T>A uc001ivz.1 - 3 785 c.515A>T c.(514-516)AAT>ATT p.N172I ARHGAP12_uc001ivy.1_Missense_Mutation_p.N170I|ARHGAP12_uc009xls.2_Missense_Mutation_p.N170I|ARHGAP12_uc001iwb.1_Missense_Mutation_p.N170I|ARHGAP12_uc001iwc.1_Missense_Mutation_p.N170I|ARHGAP12_uc009xlq.1_Missense_Mutation_p.N170I|ARHGAP12_uc001iwd.1_Missense_Mutation_p.N170I|ARHGAP12_uc009xlr.1_Missense_Mutation_p.N170I NM_018287 NP_060757 Q8IWW6 RHG12_HUMAN Rho GTPase activating protein 12 172 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity 0 Prostate(175;0.0199) GCGTGTCCTATTCTGGCTGGA 0.443 NA 133 247 0 0 0.00361 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37430752 37430752 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr10:37430752G>T uc001iza.1 + 7 858 c.759G>T c.(757-759)TTG>TTT p.L253F NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 309 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 CTGCACCCTTGGTGGAAAGAA 0.502 NA 22 27 6.12954e-19 8.02744e-19 0.004656 1 0 GDF2 2658 broad.mit.edu 37 10 48413794 48413794 + Silent SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr10:48413794G>T uc001jfa.1 - 2 1237 c.1074C>A c.(1072-1074)GGC>GGA p.G358G NM_016204 NP_057288 Q9UK05 GDF2_HUMAN growth differentiation factor 2 precursor 358 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity ovary(2)|skin(1) 3 AGAAGCAGCCGCCCTTACACT 0.572 NA 17 11 5.26018e-13 6.48717e-13 0.001882 1 0 FRMPD2 143162 broad.mit.edu 37 10 49393636 49393636 + Silent SNP A A T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr10:49393636A>T uc001jgi.2 - 18 2426 c.2319T>A c.(2317-2319)ATT>ATA p.I773I FRMPD2_uc001jgh.2_Silent_p.I741I|FRMPD2_uc001jgj.2_Silent_p.I751I NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 isoform 3 773 tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding large_intestine(1) 1 Kidney(211;0.201) TCACACGTACAATTTCTCGGC 0.498 NA 40 70 0 0 0.003214 0 0 CHAT 1103 broad.mit.edu 37 10 50870742 50870742 + Missense_Mutation SNP G G C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr10:50870742G>C uc001jhz.2 + 14 2044 c.1891G>C c.(1891-1893)GCC>CCC p.A631P CHAT_uc001jhv.1_Missense_Mutation_p.A513P|CHAT_uc001jhx.1_Missense_Mutation_p.A513P|CHAT_uc001jhy.1_Missense_Mutation_p.A513P|CHAT_uc001jia.2_Missense_Mutation_p.A513P|CHAT_uc010qgs.1_Missense_Mutation_p.A513P NM_020549 NP_065574 P28329 CLAT_HUMAN choline acetyltransferase isoform 2 631 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3) 3 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) GCGGGAGCTGGCCCGGGCCAT 0.587 NA 76 95 0 0 0.00361 0 0 PCDH15 65217 broad.mit.edu 37 10 55721550 55721550 + Silent SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr10:55721550G>T uc001jju.1 - 22 3366 c.2971C>A c.(2971-2973)CGA>AGA p.R991R PCDH15_uc010qhq.1_Silent_p.R996R|PCDH15_uc010qhr.1_Silent_p.R991R|PCDH15_uc010qhs.1_Silent_p.R1003R|PCDH15_uc010qht.1_Silent_p.R998R|PCDH15_uc010qhu.1_Silent_p.R991R|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Silent_p.R991R|PCDH15_uc010qhw.1_Silent_p.R954R|PCDH15_uc010qhx.1_Silent_p.R920R|PCDH15_uc010qhy.1_Silent_p.R996R|PCDH15_uc010qhz.1_Silent_p.R991R|PCDH15_uc010qia.1_Silent_p.R969R|PCDH15_uc010qib.1_Silent_p.R969R NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 991 Extracellular (Potential).|Cadherin 9. 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) AGATTGACTCGTGTTATTACT 0.348 NA HNSCC(58;0.16) 22 110 6.12954e-19 8.02744e-19 0.004656 1 0 LRRTM3 347731 broad.mit.edu 37 10 68857382 68857382 + Missense_Mutation SNP A A T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr10:68857382A>T uc001jmz.1 + 3 2124 c.1574A>T c.(1573-1575)TAC>TTC p.Y525F CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron NM_178011 NP_821079 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 525 Cytoplasmic (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 TTTCTGGCATACGACCAGCCC 0.398 NA 42 226 0 0 0.00361 0 0 MYPN 84665 broad.mit.edu 37 10 69909858 69909858 + Missense_Mutation SNP T T C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr10:69909858T>C uc001jnm.3 + 7 1492 c.1307T>C c.(1306-1308)GTG>GCG p.V436A MYPN_uc001jnl.1_Missense_Mutation_p.V436A|MYPN_uc001jnn.3_Missense_Mutation_p.V161A|MYPN_uc001jno.3_Missense_Mutation_p.V436A|MYPN_uc001jnp.1_Missense_Mutation_p.V436A|MYPN_uc009xps.2_Missense_Mutation_p.V436A|MYPN_uc009xpt.2_Missense_Mutation_p.V436A|MYPN_uc010qit.1_Missense_Mutation_p.V142A|MYPN_uc010qiu.1_RNA NM_032578 NP_115967 Q86TC9 MYPN_HUMAN myopalladin 436 Interaction with CARP.|Ig-like 2. nucleus|sarcomere actin binding ovary(3)|skin(2) 5 GCAGCTCCTGTGTTTACAAAG 0.363 NA 31 97 0 0 0.003271 0 0 NODAL 4838 broad.mit.edu 37 10 72195389 72195389 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr10:72195389G>T uc001jrc.2 - 2 586 c.544C>A c.(544-546)CCG>ACG p.P182T NM_018055 NP_060525 Q96S42 NODAL_HUMAN nodal precursor 182 growth extracellular space cytokine activity|growth factor activity large_intestine(1)|kidney(1) 2 GGGGGCCGCGGCCAGCACTCT 0.637 NA 7 3 5.68852e-11 6.75291e-11 0.004482 1 0 CDH23 64072 broad.mit.edu 37 10 73544838 73544838 + Missense_Mutation SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr10:73544838C>T uc001jrx.3 + 41 6070 c.5693C>T c.(5692-5694)GCC>GTC p.A1898V NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 1898 Cadherin 18.|Extracellular (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 CGCGAGCGGGCCTTCTTCATC 0.597 NA 17 26 0 0 0.00278 0 0 CDH23 64072 broad.mit.edu 37 10 73550900 73550900 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr10:73550900G>T uc001jrx.3 + 45 6438 c.6061G>T c.(6061-6063)GTG>TTG p.V2021L NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 2021 Cadherin 19.|Extracellular (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 TGTGGTGACCGTGAGGTCAGG 0.622 NA 3 3 6.4e-05 6.85629e-05 0.004672 1 0 LDB3 11155 broad.mit.edu 37 10 88478508 88478508 + Missense_Mutation SNP A A T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr10:88478508A>T uc001kdv.2 + 11 1905 c.1882A>T c.(1882-1884)ACA>TCA p.T628S LDB3_uc010qmm.1_Missense_Mutation_p.T633S|LDB3_uc001kdu.2_Missense_Mutation_p.T518S|LDB3_uc009xsz.2_Missense_Mutation_p.T257S|LDB3_uc009xta.1_Missense_Mutation_p.T7S NM_007078 NP_009009 O75112 LDB3_HUMAN LIM domain binding 3 isoform 1 628 LIM zinc-binding 2. cytoskeleton|perinuclear region of cytoplasm|pseudopodium zinc ion binding ovary(1) 1 CTTGAGACAGACATGGCACAC 0.577 NA 34 53 0 0 0.009718 0 0 SLC16A12 387700 broad.mit.edu 37 10 91198784 91198784 + Missense_Mutation SNP G G A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr10:91198784G>A uc001kgm.2 - 6 906 c.515C>T c.(514-516)TCC>TTC p.S172F SLC16A12_uc001kgl.2_5'Flank NM_213606 NP_998771 Q6ZSM3 MOT12_HUMAN solute carrier family 16 (monocarboxylic acid 172 Cytoplasmic (Potential). integral to membrane|plasma membrane symporter activity skin(1) 1 TCCCCGCCAGGAAAACTGTTC 0.498 NA 15 177 0 0 0.006122 0 0 PPP1R3C 5507 broad.mit.edu 37 10 93390364 93390364 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr10:93390364C>A uc001kho.2 - 2 406 c.274G>T c.(274-276)GGC>TGC p.G92C NM_005398 NP_005389 Q9UQK1 PPR3C_HUMAN protein phosphatase 1, regulatory (inhibitor) 92 protein serine/threonine phosphatase activity breast(1) 1 Colorectal(252;0.235) AGAGAGAGGCCCTTGGAGTCA 0.478 NA 21 85 3.83957e-06 4.20805e-06 0.00278 1 0 PDCD11 22984 broad.mit.edu 37 10 105198552 105198552 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr10:105198552G>T uc001kwy.1 + 27 4099 c.4012G>T c.(4012-4014)GGT>TGT p.G1338C NM_014976 NP_055791 Q14690 RRP5_HUMAN programmed cell death 11 1338 S1 motif 12. mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding ovary(2)|breast(2)|skin(2)|central_nervous_system(1) 7 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) CCAGCCACACGGTGTGTTCTT 0.552 NA 13 47 1.3612e-06 1.51215e-06 0.003163 1 0 ADD3 120 broad.mit.edu 37 10 111872586 111872586 + Missense_Mutation SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr10:111872586C>T uc001kyt.3 + 4 561 c.247C>T c.(247-249)CAC>TAC p.H83Y ADD3_uc001kys.3_Missense_Mutation_p.H83Y|ADD3_uc001kyu.2_Missense_Mutation_p.H83Y|ADD3_uc001kyv.2_Missense_Mutation_p.H83Y|ADD3_uc001kyw.2_Missense_Mutation_p.H83Y NM_016824 NP_058432 Q9UEY8 ADDG_HUMAN adducin 3 (gamma) isoform a 83 cytoskeleton actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton ovary(2)|skin(2)|large_intestine(1) 5 Breast(234;0.052)|Lung NSC(174;0.223) Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742) GAAGAAAGGCCACAACCCAAC 0.418 NA 70 69 0 0 0.00361 0 0 AFAP1L2 84632 broad.mit.edu 37 10 116100464 116100464 + Missense_Mutation SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr10:116100464C>T uc001lbn.2 - 2 344 c.43G>A c.(43-45)GAT>AAT p.D15N AFAP1L2_uc001lbo.2_Missense_Mutation_p.D15N|AFAP1L2_uc010qse.1_Missense_Mutation_p.D15N|AFAP1L2_uc001lbp.2_Missense_Mutation_p.D15N|AFAP1L2_uc001lbr.1_Missense_Mutation_p.D15N NM_001001936 NP_001001936 Q8N4X5 AF1L2_HUMAN KIAA1914 protein isoform 1 15 inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle cytoplasm protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding ovary(1)|breast(1) 2 Colorectal(252;0.175)|Breast(234;0.231) Epithelial(162;0.0219)|all cancers(201;0.0561) AGGAAGTCATCCAACTCTGTC 0.547 NA 5 60 0 0 0.000602 0 0 GPR26 2849 broad.mit.edu 37 10 125447575 125447575 + Missense_Mutation SNP T T G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr10:125447575T>G uc001lhh.2 + 3 966 c.913T>G c.(913-915)TGC>GGC p.C305G NM_153442 NP_703143 Q8NDV2 GPR26_HUMAN G protein-coupled receptor 26 305 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226) CCGCAAAAGCTGCAAGGAGAT 0.592 NA 4 32 0 0 0.006214 0 0 EBF3 253738 broad.mit.edu 37 10 131671816 131671816 + Silent SNP G G T rs150383257 TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr10:131671816G>T uc001lki.1 - 8 740 c.681C>A c.(679-681)GCC>GCA p.A227A NM_001005463 NP_001005463 Q9H4W6 COE3_HUMAN early B-cell factor 3 227 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|pancreas(1) 2 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) TGTCTGACACGGCCAGCACGT 0.522 NA 14 24 2.35188e-11 2.81535e-11 0.006122 1 0 FRG2B 441581 broad.mit.edu 37 10 135440087 135440087 + Nonsense_Mutation SNP T T A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr10:135440087T>A uc010qvg.1 - 1 213 c.160A>T c.(160-162)AAG>TAG p.K54* NM_001080998 NP_001074467 Q96QU4 FRG2B_HUMAN FSHD region gene 2 family, member B 54 nucleus 0 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) TGTATGTGCTTCTCACTGGAA 0.488 NA 15 21 0 0 0.001882 0 0 SLC25A22 79751 broad.mit.edu 37 11 792399 792399 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr11:792399C>A uc001lri.2 - 8 989 c.647G>T c.(646-648)CGC>CTC p.R216L CEND1_uc001lrh.1_5'Flank|SLC25A22_uc009yci.2_Missense_Mutation_p.R216L|SLC25A22_uc001lrj.2_Missense_Mutation_p.R216L NM_024698 NP_078974 Q9H936 GHC1_HUMAN mitochondrial glutamate carrier 1 216 integral to membrane|mitochondrial inner membrane|nucleus L-glutamate transmembrane transporter activity|protein binding|symporter activity 0 all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) L-Glutamic Acid(DB00142) GGACGCCGGGCGGCCCAGCTG 0.662 Colon(93;848 1468 3270 23355 49636) NA 6 6 2.0095e-06 2.22369e-06 0.001984 1 0 OR52A5 390054 broad.mit.edu 37 11 5153664 5153664 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr11:5153664G>T uc010qyx.1 - 1 209 c.209C>A c.(208-210)GCC>GAC p.A70D NM_001005160 NP_001005160 Q9H2C5 O52A5_HUMAN olfactory receptor, family 52, subfamily A, 70 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|lung(1)|central_nervous_system(1) 4 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) AATGTCTGTGGCTGCCAACAT 0.363 NA 35 87 1.02591e-13 1.27346e-13 0.002522 1 0 OR52E4 390081 broad.mit.edu 37 11 5905527 5905527 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr11:5905527C>A uc010qzs.1 + 1 5 c.5C>A c.(4-6)CCT>CAT p.P2H TRIM5_uc001mbq.1_Intron NM_001005165 NP_001005165 Q8NGH9 O52E4_HUMAN olfactory receptor, family 52, subfamily E, 2 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P2S(1) ovary(2) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGGAGAATGCCTTCTATCAAT 0.423 NA 58 194 4.66136e-34 7.06005e-34 0.00361 1 0 OR56A4 120793 broad.mit.edu 37 11 6023494 6023494 + Silent SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr11:6023494C>A uc010qzv.1 - 1 885 c.885G>T c.(883-885)ACG>ACT p.T295T NM_001005179 NP_001005179 Q8NGH8 O56A4_HUMAN olfactory receptor, family 56, subfamily A, 243 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGGAACCACACGTGCTCAAGG 0.488 NA 34 54 1.62957e-23 2.25299e-23 0.00874 1 0 OR2AG1 144125 broad.mit.edu 37 11 6807144 6807144 + Silent SNP G G A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr11:6807144G>A uc001mer.1 + 1 876 c.876G>A c.(874-876)CTG>CTA p.L292L NM_001004489 NP_001004489 Q9H205 O2AG1_HUMAN olfactory receptor, family 2, subfamily AG, 292 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TCTACAGCCTGAGGAATAAGG 0.512 NA 5 109 0 0 0.00308 0 0 OR5P3 120066 broad.mit.edu 37 11 7846682 7846682 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr11:7846682C>A uc010rbg.1 - 1 838 c.838G>T c.(838-840)GTG>TTG p.V280L NM_153445 NP_703146 Q8WZ94 OR5P3_HUMAN olfactory receptor, family 5, subfamily P, 280 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) GGAATCACCACGGTGTAGAAC 0.453 NA 27 119 8.88839e-20 1.18305e-19 0.002096 1 0 TEAD1 7003 broad.mit.edu 37 11 12785743 12785743 + Translation_Start_Site SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr11:12785743G>T uc001mkj.3 + 3 584 c.-81G>T c.(-83--79)AAGGC>AATGC NM_021961 NP_068780 P28347 TEAD1_HUMAN TEA domain family member 1 hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236) TTCTTGAAAAGGCTCCAGGCT 0.463 NA 25 29 2.70662e-09 3.1285e-09 0.009535 1 0 COPB1 1315 broad.mit.edu 37 11 14496111 14496111 + Missense_Mutation SNP G G A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr11:14496111G>A uc001mli.2 - 14 1974 c.1667C>T c.(1666-1668)TCC>TTC p.S556F COPB1_uc001mlg.2_Missense_Mutation_p.S556F|COPB1_uc001mlh.2_Missense_Mutation_p.S556F NM_016451 NP_057535 P53618 COPB_HUMAN coatomer protein complex, subunit beta 1 556 COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane protein binding|structural molecule activity ovary(1)|central_nervous_system(1) 2 TGTGGCAAGGGAGGCAGCAAC 0.403 NA 47 213 0 0 0.00361 0 0 GTF2H1 2965 broad.mit.edu 37 11 18380137 18380137 + Nonsense_Mutation SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr11:18380137C>T uc001moi.2 + 14 2111 c.1417C>T c.(1417-1419)CGA>TGA p.R473* GTF2H1_uc001moh.2_Nonsense_Mutation_p.R473*|GTF2H1_uc009yhm.2_Nonsense_Mutation_p.R357*|GTF2H1_uc001moj.2_Nonsense_Mutation_p.R161* NM_001142307 NP_001135779 P32780 TF2H1_HUMAN general transcription factor IIH, polypeptide 1, 473 mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex protein binding 0 AGAACTTCTACGACATTTCTG 0.398 NA NER 45 140 0 0 0.00361 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18956125 18956125 + Silent SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr11:18956125G>T uc001mpg.2 - 1 425 c.207C>A c.(205-207)GCC>GCA p.A69A NM_147199 NP_671732 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 69 Helical; Name=2; (Potential). acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(2)|central_nervous_system(1) 3 AGTCTGCTGCGGCCAAGTTGA 0.532 NA 71 300 6.03386e-27 8.54921e-27 0.00361 1 0 TCP11L1 55346 broad.mit.edu 37 11 33076262 33076262 + Missense_Mutation SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr11:33076262C>T uc001mud.2 + 3 687 c.287C>T c.(286-288)CCA>CTA p.P96L TCP11L1_uc009yju.2_5'UTR|TCP11L1_uc010rei.1_Missense_Mutation_p.P96L|TCP11L1_uc001mue.2_Missense_Mutation_p.P96L NM_018393 NP_060863 Q9NUJ3 T11L1_HUMAN t-complex 11 (mouse) like 1 96 0 GTTGAATTACCAGAAAACAGG 0.373 NA 20 114 0 0 0.00333 0 0 F2 2147 broad.mit.edu 37 11 46760614 46760614 + Silent SNP A A G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr11:46760614A>G uc001ndf.3 + 13 1714 c.1671A>G c.(1669-1671)GAA>GAG p.E557E F2_uc001ndg.3_RNA NM_000506 NP_000497 P00734 THRB_HUMAN coagulation factor II preproprotein 557 High affinity receptor-binding region which is also known as the TP508 peptide.|Peptidase S1. activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity ovary(3) 3 all_lung(304;0.000414)|Lung NSC(402;0.0011) BRCA - Breast invasive adenocarcinoma(625;0.146) Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898) AGCCTGATGAAGGGAAACGAG 0.552 Esophageal Squamous(147;1147 1808 2148 38609 51144) NA 6 148 0 0 0.001984 0 0 LOC440040 440040 broad.mit.edu 37 11 49830150 49830150 + Silent SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr11:49830150C>T uc010rhy.1 + 6 1468 c.990C>T c.(988-990)CCC>CCT p.P330P LOC440040_uc009ymb.2_Silent_p.P330P NR_027044 SubName: Full=cDNA FLJ60249, highly similar to Metabotropic glutamate receptor 5; 0 GTGCAGGGCCCATCACTGGAC 0.483 NA 10 16 0 0 0.00245 0 0 OR4C13 283092 broad.mit.edu 37 11 49974394 49974394 + Silent SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr11:49974394C>T uc010rhz.1 + 1 420 c.420C>T c.(418-420)AGC>AGT p.S140S NM_001001955 NP_001001955 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, 140 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(1) 4 ATGTTTGTAGCCTGCTAGTGG 0.468 NA 136 144 0 0 0.00361 0 0 OR4C13 283092 broad.mit.edu 37 11 49974893 49974893 + Missense_Mutation SNP A A T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr11:49974893A>T uc010rhz.1 + 1 919 c.919A>T c.(919-921)AGT>TGT p.S307C NM_001001955 NP_001001955 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, 307 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(1) 4 AGCTATTTCAAGTGTCAAATA 0.368 NA 12 52 0 0 0.003163 0 0 OR4C46 119749 broad.mit.edu 37 11 51515672 51515672 + Missense_Mutation SNP A A G rs140334906 TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr11:51515672A>G uc010ric.1 + 1 391 c.391A>G c.(391-393)ATG>GTG p.M131V NM_001004703 NP_001004703 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, 131 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CTTGCACTATATGACTATCAT 0.478 NA 180 192 0 0 0.00361 0 0 TRIM48 79097 broad.mit.edu 37 11 55032517 55032517 + Silent SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr11:55032517C>A uc010rid.1 + 2 272 c.186C>A c.(184-186)ATC>ATA p.I62I NM_024114 NP_077019 Q8IWZ4 TRI48_HUMAN tripartite motif-containing 48 46 RING-type. intracellular zinc ion binding 0 GGCAAGACATCCCAATTCTTA 0.458 NA 21 77 3.83957e-06 4.20805e-06 0.00278 1 0 OR4C15 81309 broad.mit.edu 37 11 55322592 55322592 + Silent SNP C C G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr11:55322592C>G uc010rig.1 + 1 810 c.810C>G c.(808-810)TCC>TCG p.S270S NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, 216 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TGCTTGTCTCCTATGCTGTCA 0.468 NA HNSCC(20;0.049) 271 398 0 0 0.00361 0 0 OR5W2 390148 broad.mit.edu 37 11 55681287 55681287 + Missense_Mutation SNP T T A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr11:55681287T>A uc010rir.1 - 1 772 c.772A>T c.(772-774)ATG>TTG p.M258L NM_001001960 NP_001001960 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, 258 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 CGGAAATACATAAAGAGCAGA 0.438 Melanoma(48;171 1190 15239 43886 49348) NA 23 81 0 0 0.007291 0 0 OR5F1 338674 broad.mit.edu 37 11 55761338 55761338 + Missense_Mutation SNP C C G rs58625186 byFrequency TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr11:55761338C>G uc010riv.1 - 1 764 c.764G>C c.(763-765)TGC>TCC p.C255S NM_003697 NP_003688 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, 255 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Esophageal squamous(21;0.00448) AGTATAGATGCAGGTGGCATA 0.488 NA 85 127 0 0 0.00361 0 0 OR8J1 219477 broad.mit.edu 37 11 56128658 56128658 + Silent SNP C C T rs148720229 TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr11:56128658C>T uc010rjh.1 + 1 936 c.936C>T c.(934-936)TCC>TCT p.S312S NM_001005205 NP_001005205 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, 312 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) TGTGCTATTCCTTTAAAACAA 0.353 NA 41 54 0 0 0.002852 0 0 OR5AP2 338675 broad.mit.edu 37 11 56409890 56409890 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr11:56409890C>A uc001njb.1 - 1 26 c.26G>T c.(25-27)GGC>GTC p.G9V NM_001002925 NP_001002925 Q8NGF4 O5AP2_HUMAN olfactory receptor, family 5, subfamily AP, 9 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 TTGATTTCTGCCTCGAACCTC 0.368 NA 34 67 4.14481e-20 5.54259e-20 0.00623 1 0 OR10W1 81341 broad.mit.edu 37 11 58034994 58034994 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr11:58034994G>T uc001nmq.1 - 1 739 c.337C>A c.(337-339)CGC>AGC p.R113S NM_207374 NP_997257 Q8NGF6 O10W1_HUMAN olfactory receptor, family 10, subfamily W, 113 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(21;0.0589) GCCACATAGCGGTCATAGGCC 0.532 NA 69 90 7.79919e-48 1.2797e-47 0.00361 1 0 MS4A10 341116 broad.mit.edu 37 11 60558557 60558557 + Silent SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr11:60558557G>T uc001npz.1 + 3 390 c.294G>T c.(292-294)GGG>GGT p.G98G NM_206893 NP_996776 Q96PG2 M4A10_HUMAN membrane-spanning 4-domains, subfamily A, member 98 Helical; (Potential). integral to membrane receptor activity ovary(1)|skin(1) 2 CATTCTGGGGGGCTGCCTCTG 0.582 NA 31 56 1.68508e-10 1.98388e-10 0.009718 1 0 PRPF19 27339 broad.mit.edu 37 11 60666746 60666746 + Missense_Mutation SNP T T G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr11:60666746T>G uc001nqf.2 - 11 1066 c.859A>C c.(859-861)ACT>CCT p.T287P NM_014502 NP_055317 Q9UMS4 PRP19_HUMAN PRP19/PSO4 pre-mRNA processing factor 19 287 WD 2. DNA repair|protein polyubiquitination|spliceosome assembly catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity ovary(1) 1 ATCCTGATAGTGGCATCGGGG 0.488 NA OREG0020994 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 56 0 0 0.001984 0 0 DAGLA 747 broad.mit.edu 37 11 61504654 61504654 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr11:61504654G>T uc001nsa.2 + 14 1483 c.1372G>T c.(1372-1374)GGC>TGC p.G458C NM_006133 NP_006124 Q9Y4D2 DGLA_HUMAN neural stem cell-derived dendrite regulator 458 Cytoplasmic (Potential). cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity ovary(2)|central_nervous_system(1) 3 READ - Rectum adenocarcinoma(4;0.219) CGGTCTCCAGGGCCGCGGAAC 0.637 NA 10 20 2.27111e-07 2.54775e-07 0.001368 1 0 PPP2R5B 5526 broad.mit.edu 37 11 64699039 64699039 + Silent SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr11:64699039G>T uc001oby.2 + 10 1539 c.954G>T c.(952-954)CGG>CGT p.R318R PPP2R5B_uc001obz.2_Silent_p.R318R NM_006244 NP_006235 Q15173 2A5B_HUMAN beta isoform of regulatory subunit B56, protein 318 signal transduction cytoplasm|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity ovary(2) 2 AGGTGATCCGGGGGCTGCTCA 0.597 NA 8 12 0.000978159 0.00102108 0.000978 1 0 ODZ4 26011 broad.mit.edu 37 11 78412653 78412653 + Nonsense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr11:78412653C>A uc001ozl.3 - 28 5468 c.5005G>T c.(5005-5007)GAG>TAG p.E1669* ODZ4_uc009yvb.1_Nonsense_Mutation_p.E253* NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 1669 Extracellular (Potential). signal transduction integral to membrane ovary(2)|pancreas(2) 4 ATGGCCAACTCGTGTCCTTGT 0.507 NA 14 65 9.16793e-09 1.04908e-08 0.00499 1 0 FAM181B 220382 broad.mit.edu 37 11 82444630 82444630 + Missense_Mutation SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr11:82444630C>T uc001ozp.2 - 1 277 c.142G>A c.(142-144)GGT>AGT p.G48S NM_175885 NP_787081 A6NEQ2 F181B_HUMAN hypothetical protein LOC220382 48 large_intestine(1) 1 AGCAGCGCACCCGCCGGAGCC 0.692 NA 3 6 0 0 0.001984 0 0 GRM5 2915 broad.mit.edu 37 11 88780774 88780774 + Silent SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr11:88780774G>T uc001pcq.2 - 1 467 c.267C>A c.(265-267)ATC>ATA p.I89I GRM5_uc009yvm.2_Silent_p.I89I|GRM5_uc009yvn.1_Silent_p.I89I NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 89 Extracellular (Potential). activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) AGCCCAGTGTGATGTTGGGCA 0.527 NA 15 16 0.000132079 0.000140441 0.008871 1 0 CHORDC1 26973 broad.mit.edu 37 11 89947211 89947211 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr11:89947211G>T uc001pdg.2 - 4 714 c.304C>A c.(304-306)CCA>ACA p.P102T CHORDC1_uc009yvz.2_Missense_Mutation_p.P83T NM_012124 NP_036256 Q9UHD1 CHRD1_HUMAN cysteine and histidine-rich domain-containing 102 Interaction with HSP90AA1 and HSP90AB1 (By similarity). chaperone-mediated protein folding|regulation of response to stress|response to stress Hsp90 protein binding|identical protein binding 0 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915) GCTTCTACTGGCTTAGGGGCT 0.383 NA 24 67 1.17739e-12 1.44269e-12 0.005443 1 0 PANX1 24145 broad.mit.edu 37 11 93862607 93862607 + Silent SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr11:93862607G>T uc001per.2 + 1 514 c.129G>T c.(127-129)GTG>GTT p.V43V uc001pen.1_5'Flank|PANX1_uc001peq.2_Silent_p.V43V NM_015368 NP_056183 Q96RD7 PANX1_HUMAN pannexin 1 43 Helical; (Potential). positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission bleb|endoplasmic reticulum membrane|gap junction|integral to membrane calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) GCATTGCGGTGGGGCTGCCCC 0.647 NA 5 13 0.00621372 0.00640439 0.006214 1 0 MAML2 84441 broad.mit.edu 37 11 95825768 95825768 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr11:95825768C>A uc001pfw.1 - 2 2712 c.1427G>T c.(1426-1428)GGG>GTG p.G476V NM_032427 NP_115803 Q8IZL2 MAML2_HUMAN mastermind-like 2 476 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity CRTC1/MAML2(516)|CRTC3/MAML2(26) salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1) 546 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) TTTCTCCTGCCCAAATGGACC 0.517 NA T MECT1|CRTC3 salivary gland mucoepidermoid 37 62 1.32136e-16 1.68414e-16 0.00874 1 0 TRPC6 7225 broad.mit.edu 37 11 101359765 101359765 + Missense_Mutation SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr11:101359765C>T uc001pgk.3 - 4 1621 c.1196G>A c.(1195-1197)CGA>CAA p.R399Q TRPC6_uc009ywy.2_Intron|TRPC6_uc009ywz.1_Intron NM_004621 NP_004612 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, 399 Cytoplasmic (Potential). axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) TGTCTGCTGTCGTAAACCAGA 0.448 Colon(166;1315 1927 11094 12848 34731) NA 9 34 0 0 0.003163 0 0 KIAA1377 57562 broad.mit.edu 37 11 101793446 101793446 + Missense_Mutation SNP G G T rs142032267 TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr11:101793446G>T uc001pgm.2 + 2 473 c.203G>T c.(202-204)CGA>CTA p.R68L KIAA1377_uc001pgn.2_Missense_Mutation_p.R24L NM_020802 NP_065853 Q9P2H0 K1377_HUMAN hypothetical protein LOC57562 68 Potential. protein binding p.R68*(1) breast(2)|ovary(1)|central_nervous_system(1) 4 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) AAAATATGTCGAAATCGAGCA 0.303 NA 6 11 0.00116845 0.00121527 0.001168 1 0 MMP1 4312 broad.mit.edu 37 11 102666324 102666324 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr11:102666324G>T uc001phi.2 - 5 783 c.640C>A c.(640-642)CGT>AGT p.R214S uc001phh.1_Intron|MMP1_uc010ruv.1_Missense_Mutation_p.R148S NM_002421 NP_002412 P03956 MMP1_HUMAN matrix metalloproteinase 1 isoform 1 214 Metalloprotease. blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(12;0.0127) all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233) OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014) GCTGCAACACGATGTAAGTTG 0.368 NA 11 45 6.31663e-08 7.14217e-08 0.003163 1 0 DDI1 414301 broad.mit.edu 37 11 103908205 103908205 + Silent SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr11:103908205C>A uc001phr.2 + 1 898 c.655C>A c.(655-657)CGG>AGG p.R219R PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron NM_001001711 NP_001001711 Q8WTU0 DDI1_HUMAN DDI1, DNA-damage inducible 1, homolog 1 219 proteolysis aspartic-type endopeptidase activity large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) AGAGGAAATCCGGCAGCAAAA 0.483 NA 20 32 7.33628e-21 9.90311e-21 0.002299 1 0 FAM55B 120406 broad.mit.edu 37 11 114568908 114568908 + Missense_Mutation SNP G G C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr11:114568908G>C uc009yyy.2 + 3 372 c.274G>C c.(274-276)GAC>CAC p.D92H NM_182495 NP_872301 Q96DL1 FA55B_HUMAN hypothetical protein LOC120406 92 integral to membrane ovary(1) 1 GGAGAAACTAGACCAGCAGAT 0.458 NA 48 160 0 0 0.00361 0 0 SIK3 23387 broad.mit.edu 37 11 116728895 116728895 + Nonsense_Mutation SNP G G A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr11:116728895G>A uc001ppy.2 - 20 3004 c.2968C>T c.(2968-2970)CAA>TAA p.Q990* SIK3_uc001ppz.2_Nonsense_Mutation_p.Q829*|SIK3_uc001pqa.2_Nonsense_Mutation_p.Q930*|SIK3_uc001ppw.2_Nonsense_Mutation_p.Q347*|SIK3_uc001ppx.2_Nonsense_Mutation_p.Q368*|SIK3_uc001pqb.2_Nonsense_Mutation_p.Q293* NM_025164 NP_079440 Q9Y2K2 SIK3_HUMAN serine/threonine-protein kinase QSK 990 cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1) 12 TCAGCATTTTGATAAGATAAA 0.552 NA 9 37 0 0 0.008291 0 0 ROBO4 54538 broad.mit.edu 37 11 124754802 124754802 + Silent SNP A A T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr11:124754802A>T uc001qbg.2 - 18 3149 c.3009T>A c.(3007-3009)CCT>CCA p.P1003P ROBO4_uc010sas.1_Silent_p.P858P NM_019055 NP_061928 Q8WZ75 ROBO4_HUMAN roundabout homolog 4, magic roundabout 1003 angiogenesis|cell differentiation integral to membrane receptor activity ovary(1)|skin(1) 2 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) AGTAATCTACAGGAGAAGCTG 0.557 NA 18 58 0 0 0.00278 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128839021 128839021 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr11:128839021G>T uc009zcp.2 - 22 6045 c.6045C>A c.(6043-6045)AGC>AGA p.S2015R ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.S974R|ARHGAP32_uc001qez.2_Missense_Mutation_p.S1666R NM_001142685 NP_001136157 A7KAX9 RHG32_HUMAN Rho GTPase-activating protein isoform 1 2015 Interaction with FYN. 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 CAGTCACACTGCTCTGGCGCT 0.562 NA 18 34 8.34094e-07 9.3021e-07 0.008871 1 0 CACNA2D4 93589 broad.mit.edu 37 12 1953620 1953620 + Silent SNP T T A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr12:1953620T>A uc001qjp.2 - 25 2649 c.2418A>T c.(2416-2418)TCA>TCT p.S806S CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Silent_p.S670S|CACNA2D4_uc009zdr.1_RNA NM_172364 NP_758952 Q7Z3S7 CA2D4_HUMAN voltage-gated calcium channel alpha(2)delta-4 806 Extracellular (Potential). integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity ovary(1) 1 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) CAGGATGCTCTGAGGCCTGGC 0.632 Colon(2;101 179 21030 23310 28141) NA 14 22 0 0 0.007413 0 0 SCNN1A 6337 broad.mit.edu 37 12 6463650 6463650 + Silent SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr12:6463650C>A uc001qnx.2 - 8 1603 c.1314G>T c.(1312-1314)CGG>CGT p.R438R SCNN1A_uc001qnv.2_Silent_p.R138R|SCNN1A_uc001qnw.2_Silent_p.R497R|SCNN1A_uc010sfb.1_Silent_p.R461R NM_001038 NP_001029 P37088 SCNNA_HUMAN sodium channel, nonvoltage-gated 1 alpha isoform 438 Extracellular (By similarity). excretion|response to stimulus|sensory perception of taste apical plasma membrane WW domain binding 0 Amiloride(DB00594)|Triamterene(DB00384) CGTTCTGGGGCCGCGGATAGA 0.587 NA 21 16 1.16021e-09 1.34924e-09 0.007291 1 0 TAS2R9 50835 broad.mit.edu 37 12 10962482 10962482 + Missense_Mutation SNP C C G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr12:10962482C>G uc001qyx.2 - 1 286 c.193G>C c.(193-195)GAT>CAT p.D65H TAS2R8_uc010shh.1_5'Flank NM_023917 NP_076406 Q9NYW1 TA2R9_HUMAN taste receptor, type 2, member 9 65 Helical; Name=2; (Potential). sensory perception of taste integral to membrane taste receptor activity skin(1) 1 AAGAAGCCATCTAATGATATT 0.413 NA 145 210 0 0 0.00361 0 0 SOX5 6660 broad.mit.edu 37 12 23689448 23689448 + Missense_Mutation SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr12:23689448C>T uc001rfw.2 - 14 2029 c.1927G>A c.(1927-1929)GGT>AGT p.G643S SOX5_uc001rfx.2_Missense_Mutation_p.G630S|SOX5_uc001rfy.2_Missense_Mutation_p.G522S|SOX5_uc001rfv.2_Missense_Mutation_p.G257S|SOX5_uc010siv.1_Missense_Mutation_p.G630S|SOX5_uc010siw.1_RNA NM_006940 NP_008871 P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 isoform a 643 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(5)|lung(1) 6 TTGTATTCACCAATGCGCAGC 0.507 NA 39 80 0 0 0.002522 0 0 OVCH1 341350 broad.mit.edu 37 12 29624753 29624753 + Missense_Mutation SNP G G A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr12:29624753G>A uc001rix.1 - 16 1838 c.1838C>T c.(1837-1839)GCA>GTA p.A613V NM_183378 NP_899234 Q7RTY7 OVCH1_HUMAN ovochymase 1 precursor 613 Peptidase S1 2. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1) 10 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) ACAGTGGGCTGCGGTCAGAAT 0.488 NA 37 53 0 0 0.009718 0 0 IPO8 10526 broad.mit.edu 37 12 30837254 30837254 + Silent SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr12:30837254G>T uc001rjd.2 - 3 474 c.304C>A c.(304-306)CGG>AGG p.R102R NM_006390 NP_006381 O15397 IPO8_HUMAN importin 8 102 Importin N-terminal. intracellular protein transport|signal transduction cytoplasm|nucleus protein transporter activity|Ran GTPase binding skin(2)|central_nervous_system(1) 3 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) TCTGGAGACCGAATTATTCCT 0.418 NA 97 195 8.73416e-63 1.50671e-62 0.00361 1 0 IPO8 10526 broad.mit.edu 37 12 30843467 30843467 + Silent SNP T T A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr12:30843467T>A uc001rjd.2 - 2 299 c.129A>T c.(127-129)ATA>ATT p.I43I NM_006390 NP_006381 O15397 IPO8_HUMAN importin 8 43 Importin N-terminal. intracellular protein transport|signal transduction cytoplasm|nucleus protein transporter activity|Ran GTPase binding skin(2)|central_nervous_system(1) 3 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) GGTCAGAGACTATAATCCGAA 0.328 NA 63 65 0 0 0.00361 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43895977 43895977 + Missense_Mutation SNP T T C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr12:43895977T>C uc010skx.1 - 4 845 c.845A>G c.(844-846)TAT>TGT p.Y282C NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 282 Peptidase M12B. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) AGTCAGTATATAGTTTTGCAA 0.279 NA 10 15 0 0 0.000978 0 0 MLL2 8085 broad.mit.edu 37 12 49448739 49448739 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr12:49448739C>A uc001rta.3 - 2 120 c.120G>T c.(118-120)GAG>GAT p.E40D NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 40 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 GGACAGAGACCTCTCCCACAT 0.532 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 163 232 1.02705e-64 1.7825e-64 0.00361 1 0 XPOT 11260 broad.mit.edu 37 12 64819617 64819617 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr12:64819617G>T uc001ssb.2 + 15 2021 c.1595G>T c.(1594-1596)GGT>GTT p.G532V NM_007235 NP_009166 O43592 XPOT_HUMAN tRNA exportin 532 Necessary for tRNA-binding, cytoplasmic localization and nuclear export. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding ovary(2) 2 GBM - Glioblastoma multiforme(28;0.0404) GATCACAGAGGTCTGCGGCAT 0.373 NA 62 169 1.10345e-40 1.75998e-40 0.00361 1 0 MSRB3 253827 broad.mit.edu 37 12 65857034 65857034 + Missense_Mutation SNP A A T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr12:65857034A>T uc001ssn.2 + 6 572 c.511A>T c.(511-513)AGC>TGC p.S171C MSRB3_uc001ssm.2_Missense_Mutation_p.S164C|MSRB3_uc009zqp.2_Missense_Mutation_p.S164C NM_198080 NP_932346 Q8IXL7 MSRB3_HUMAN methionine sulfoxide reductase B3 isoform 1 171 protein repair endoplasmic reticulum|mitochondrion peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding central_nervous_system(1)|skin(1) 2 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.131) ACCTGCGGATAGCAGTGGCAC 0.547 NA 29 60 0 0 0.002852 0 0 TRHDE 29953 broad.mit.edu 37 12 72680664 72680664 + Missense_Mutation SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr12:72680664C>T uc001sxa.2 + 2 1013 c.983C>T c.(982-984)TCC>TTC p.S328F NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 328 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 CCTCTCATGTCCACATATTAT 0.398 NA 46 94 0 0 0.00361 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85546113 85546113 + Missense_Mutation SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr12:85546113C>T uc001tac.2 + 20 4496 c.4385C>T c.(4384-4386)ACA>ATA p.T1462I NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 1462 ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) CCTTCACAAACACTGCTTCTT 0.393 NA 40 95 0 0 0.00361 0 0 UHRF1BP1L 23074 broad.mit.edu 37 12 100444041 100444041 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr12:100444041C>A uc001tgq.2 - 17 3852 c.3623G>T c.(3622-3624)GGG>GTG p.G1208V UHRF1BP1L_uc001tgp.2_Missense_Mutation_p.G858V NM_015054 NP_055869 A0JNW5 UH1BL_HUMAN UHRF1 (ICBP90) binding protein 1-like isoform a 1208 ovary(2) 2 TGTATCTTCCCCTCGGATGTC 0.388 NA 17 49 4.7796e-09 5.51344e-09 0.004656 1 0 NR1H4 9971 broad.mit.edu 37 12 100926360 100926360 + Missense_Mutation SNP G G A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr12:100926360G>A uc001tht.1 + 3 628 c.600G>A c.(598-600)ATG>ATA p.M200I NR1H4_uc001thp.1_Missense_Mutation_p.M190I|NR1H4_uc001thq.1_Missense_Mutation_p.M190I|NR1H4_uc010svj.1_RNA|NR1H4_uc001thr.1_Missense_Mutation_p.M190I|NR1H4_uc010svk.1_Intron|NR1H4_uc001ths.1_Missense_Mutation_p.M200I NM_005123 NP_005114 Q96RI1 NR1H4_HUMAN nuclear receptor subfamily 1, group H, member 4 200 Nuclear receptor. bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1)|lung(1)|skin(1) 3 GCAAAGAGATGGGAATGTTGG 0.403 NA 9 279 0 0 0.008291 0 0 NR1H4 9971 broad.mit.edu 37 12 100926373 100926373 + Missense_Mutation SNP G G A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr12:100926373G>A uc001tht.1 + 3 641 c.613G>A c.(613-615)GAA>AAA p.E205K NR1H4_uc001thp.1_Missense_Mutation_p.E195K|NR1H4_uc001thq.1_Missense_Mutation_p.E195K|NR1H4_uc010svj.1_RNA|NR1H4_uc001thr.1_Missense_Mutation_p.E195K|NR1H4_uc010svk.1_Intron|NR1H4_uc001ths.1_Missense_Mutation_p.E205K NM_005123 NP_005114 Q96RI1 NR1H4_HUMAN nuclear receptor subfamily 1, group H, member 4 205 Nuclear receptor. bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1)|lung(1)|skin(1) 3 AATGTTGGCTGAATGTATGTA 0.408 NA 7 259 0 0 0.004482 0 0 SLC5A8 160728 broad.mit.edu 37 12 101573854 101573854 + Missense_Mutation SNP A A T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr12:101573854A>T uc001thz.3 - 10 1576 c.1186T>A c.(1186-1188)TGT>AGT p.C396S NM_145913 NP_666018 Q8N695 SC5A8_HUMAN solute carrier family 5 (iodide transporter), 396 Helical; (Potential). apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity 0 ATTCCAATACACAGGGCTCCA 0.433 GBM(60;420 1056 13605 22380 47675) NA 157 289 0 0 0.00361 0 0 GNPTAB 79158 broad.mit.edu 37 12 102183810 102183810 + Missense_Mutation SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr12:102183810C>T uc001tit.2 - 3 408 c.229G>A c.(229-231)GTT>ATT p.V77I GNPTAB_uc001tiu.1_Missense_Mutation_p.V77I NM_024312 NP_077288 Q3T906 GNPTA_HUMAN N-acetylglucosamine-1-phosphate transferase 77 cell differentiation Golgi membrane|integral to membrane|nucleus metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity ovary(1)|skin(1) 2 GTGTAAACAACGTCAATCGGC 0.428 NA 178 386 0 0 0.00361 0 0 CKAP4 10970 broad.mit.edu 37 12 106633077 106633077 + Missense_Mutation SNP T T A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr12:106633077T>A uc001tlk.2 - 2 1618 c.1534A>T c.(1534-1536)ACG>TCG p.T512S NM_006825 NP_006816 Q07065 CKAP4_HUMAN cytoskeleton-associated protein 4 512 ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction 0 CTGAGCAGCGTGTGCACCTGC 0.607 NA 19 27 0 0 0.002299 0 0 SELPLG 6404 broad.mit.edu 37 12 109017819 109017819 + Missense_Mutation SNP G G C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr12:109017819G>C uc001tni.2 - 2 425 c.265C>G c.(265-267)CGT>GGT p.R89G SELPLG_uc001tnh.2_Missense_Mutation_p.R89G|SELPLG_uc010sxe.1_Missense_Mutation_p.R105G NM_003006 NP_002997 Q14242 SELPL_HUMAN selectin P ligand 89 Extracellular (Potential). blood coagulation|cellular response to interleukin-6 integral to plasma membrane|membrane fraction bacterial cell surface binding|receptor binding 0 CCAGTAGAACGCCTTGCAGCA 0.582 NA 20 48 0 0 0.003954 0 0 CCDC63 160762 broad.mit.edu 37 12 111321993 111321993 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr12:111321993C>A uc001trv.1 + 8 1208 c.1013C>A c.(1012-1014)ACG>AAG p.T338K CCDC63_uc010sye.1_Missense_Mutation_p.T298K|CCDC63_uc001trw.1_Missense_Mutation_p.T253K NM_152591 NP_689804 Q8NA47 CCD63_HUMAN coiled-coil domain containing 63 338 skin(6)|ovary(1)|pancreas(1) 8 GCTCGGTTCACGTATGTCACG 0.562 NA 49 114 5.47352e-35 8.42421e-35 0.00361 1 0 C12orf51 283450 broad.mit.edu 37 12 112744003 112744003 + Silent SNP G G A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr12:112744003G>A uc009zwc.2 - 1 36 c.18C>T c.(16-18)CTC>CTT p.L6L NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 TGCCAATGGGGAGGTGATTGG 0.498 NA 28 30 0 0 0.006999 0 0 SRRM4 84530 broad.mit.edu 37 12 119554754 119554754 + Nonsense_Mutation SNP T T A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr12:119554754T>A uc001txa.1 + 4 670 c.378T>A c.(376-378)TAT>TAA p.Y126* NM_194286 NP_919262 A7MD48 SRRM4_HUMAN KIAA1853 protein 126 Ser-rich.|Lys-rich. cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding ovary(2) 2 CCTCATCCTATAGCCCATCGC 0.473 NA 11 45 0 0 0.003163 0 0 PRKAB1 5564 broad.mit.edu 37 12 120112183 120112183 + Silent SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr12:120112183C>T uc009zwu.2 + 5 559 c.456C>T c.(454-456)ATC>ATT p.I152I PRKAB1_uc001txg.2_Silent_p.I152I NM_006253 NP_006244 Q9Y478 AAKB1_HUMAN AMP-activated protein kinase beta 1 152 cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation cytosol 0 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.166) Adenosine monophosphate(DB00131)|Metformin(DB00331) TTAACAACATCATTCAAGTGA 0.418 NA 5 88 0 0 0.006214 0 0 PRKAB1 5564 broad.mit.edu 37 12 120112187 120112187 + Nonsense_Mutation SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr12:120112187C>T uc009zwu.2 + 5 563 c.460C>T c.(460-462)CAA>TAA p.Q154* PRKAB1_uc001txg.2_Nonsense_Mutation_p.Q154* NM_006253 NP_006244 Q9Y478 AAKB1_HUMAN AMP-activated protein kinase beta 1 154 cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation cytosol 0 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.166) Adenosine monophosphate(DB00131)|Metformin(DB00331) CAACATCATTCAAGTGAAGAA 0.413 NA 7 92 0 0 0.008291 0 0 DNAH10 196385 broad.mit.edu 37 12 124297768 124297768 + Nonsense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr12:124297768G>T uc001uft.3 + 19 2873 c.2848G>T c.(2848-2850)GAA>TAA p.E950* DNAH10_uc010tav.1_Nonsense_Mutation_p.E492*|DNAH10_uc010taw.1_Nonsense_Mutation_p.E435* NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 950 Stem (By similarity).|Poly-Glu. microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GAAGGGGGAGGAAGAGGAAGT 0.393 NA 49 85 7.34454e-26 1.0304e-25 0.00361 1 0 TMEM132D 121256 broad.mit.edu 37 12 130185209 130185209 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr12:130185209C>A uc009zyl.1 - 2 442 c.114G>T c.(112-114)CAG>CAT p.Q38H NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 38 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) AGGAAAACCTCTGGATGCTCT 0.502 NA 36 26 3.4597e-24 4.81827e-24 0.00361 1 0 PIWIL1 9271 broad.mit.edu 37 12 130839524 130839524 + Silent SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr12:130839524G>T uc001uik.2 + 11 1353 c.1263G>T c.(1261-1263)GTG>GTT p.V421V PIWIL1_uc001uij.1_Silent_p.V421V NM_004764 NP_004755 Q96J94 PIWL1_HUMAN piwi-like 1 421 gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) AGCGTGAAGTGGGACGACTCA 0.378 NA 156 275 9.2415e-74 1.61868e-73 0.00361 1 0 SACS 26278 broad.mit.edu 37 13 23909782 23909782 + Nonsense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr13:23909782C>A uc001uon.2 - 10 8822 c.8233G>T c.(8233-8235)GAA>TAA p.E2745* SACS_uc001uoo.2_Nonsense_Mutation_p.E2598*|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 2745 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) GAAATTTTTTCCATGTGATTA 0.383 NA 26 44 8.24728e-16 1.04186e-15 0.004656 1 0 ATP12A 479 broad.mit.edu 37 13 25264583 25264583 + Silent SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr13:25264583C>T uc001upp.2 + 6 841 c.654C>T c.(652-654)ATC>ATT p.I218I ATP12A_uc010aaa.2_Silent_p.I218I NM_001676 NP_001667 P54707 AT12A_HUMAN hydrogen/potassium-exchanging ATPase 12A 218 Cytoplasmic (Potential). ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1) 6 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) CTGCAGACATCAGGGTGCTGT 0.572 Pancreas(156;1582 1935 18898 22665 26498) NA 15 132 0 0 0.003954 0 0 AKAP11 11215 broad.mit.edu 37 13 42891710 42891710 + Missense_Mutation SNP G G A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr13:42891710G>A uc001uys.1 + 12 5626 c.5451G>A c.(5449-5451)ATG>ATA p.M1817I NM_016248 NP_057332 Q9UKA4 AKA11_HUMAN A-kinase anchor protein 11 1817 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding ovary(1)|central_nervous_system(1) 2 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) ATATTGACATGGAGCCATGCA 0.373 NA 8 155 0 0 0.006214 0 0 DACH1 1602 broad.mit.edu 37 13 72255996 72255996 + Missense_Mutation SNP G G C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr13:72255996G>C uc010thn.1 - 3 1318 c.895C>G c.(895-897)CCA>GCA p.P299A DACH1_uc010tho.1_Missense_Mutation_p.P299A|DACH1_uc010thp.1_Missense_Mutation_p.P299A NM_080759 NP_542937 Q9UI36 DACH1_HUMAN dachshund homolog 1 isoform a 299 Interaction with SIX6 and HDAC3 (By similarity). multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding breast(1) 1 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) GAGTTCTCTGGGGAGGTGACA 0.418 NA 57 41 0 0 0.00361 0 0 ITGBL1 9358 broad.mit.edu 37 13 102367973 102367973 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr13:102367973G>T uc001vpb.2 + 11 1673 c.1454G>T c.(1453-1455)TGT>TTT p.C485F ITGBL1_uc010agb.2_Missense_Mutation_p.C436F|ITGBL1_uc001vpc.3_Missense_Mutation_p.C344F NM_004791 NP_004782 O95965 ITGBL_HUMAN integrin, beta-like 1 (with EGF-like repeat 485 X.|Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway extracellular region|integrin complex binding|receptor activity ovary(1)|skin(1) 2 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GGAAATGCATGTGAAATCTGG 0.373 NA 180 141 3.54448e-97 6.32468e-97 0.00361 1 0 OR4E2 26686 broad.mit.edu 37 14 22133768 22133768 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr14:22133768G>T uc010tmd.1 + 1 472 c.472G>T c.(472-474)GGG>TGG p.G158W NM_001001912 NP_001001912 Q8NGC2 OR4E2_HUMAN olfactory receptor, family 4, subfamily E, 158 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) TCACTCACTAGGGCAGACCTT 0.488 NA 204 210 5.12032e-141 9.40097e-141 0.00361 1 0 CMA1 1215 broad.mit.edu 37 14 24974789 24974789 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr14:24974789G>T uc001wpp.1 - 5 707 c.677C>A c.(676-678)CCC>CAC p.P226H CMA1_uc010alx.1_Missense_Mutation_p.P115H NM_001836 NP_001827 P23946 CMA1_HUMAN chymase 1, mast cell preproprotein 226 Peptidase S1. interleukin-1 beta biosynthetic process|proteolysis extracellular region serine-type endopeptidase activity 0 GBM - Glioblastoma multiforme(265;0.0271) GACAGCAGGGGGCTTTGCATC 0.587 NA 56 47 1.41257e-51 2.3379e-51 0.00361 1 0 ARHGAP5 394 broad.mit.edu 37 14 32562466 32562466 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr14:32562466G>T uc001wrl.2 + 2 2830 c.2591G>T c.(2590-2592)GGA>GTA p.G864V ARHGAP5_uc001wrm.2_Missense_Mutation_p.G864V|ARHGAP5_uc001wrn.2_Missense_Mutation_p.G864V|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron NM_001173 NP_001025226 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 isoform b 864 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding ovary(4)|central_nervous_system(1) 5 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) GCTTCGATGGGAATGCTTCGA 0.383 NSCLC(9;77 350 3443 29227 41353) NA 15 109 3.51602e-12 4.27159e-12 0.008871 1 0 KIAA0391 9692 broad.mit.edu 37 14 35596743 35596743 + Missense_Mutation SNP T T A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr14:35596743T>A uc001wsy.1 + 4 1453 c.1093T>A c.(1093-1095)TAT>AAT p.Y365N KIAA0391_uc010tps.1_Missense_Mutation_p.Y270N|KIAA0391_uc001wsz.1_Missense_Mutation_p.Y349N|KIAA0391_uc001wta.2_RNA|KIAA0391_uc001wtb.1_Missense_Mutation_p.Y349N|KIAA0391_uc001wtc.1_5'UTR NM_014672 NP_055487 O15091 MRRP3_HUMAN mitochondrial RNase P protein 3 precursor 365 tRNA processing mitochondrion 0 Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184) Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277) GBM - Glioblastoma multiforme(112;0.0593) TCCAGAAGAATATGAATGTCT 0.358 NA 41 187 0 0 0.002852 0 0 FAM179B 23116 broad.mit.edu 37 14 45513851 45513851 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr14:45513851G>T uc001wvv.2 + 13 4141 c.3932G>T c.(3931-3933)CGT>CTT p.R1311L FAM179B_uc001wvw.2_Missense_Mutation_p.R1311L|FAM179B_uc010anc.2_RNA NM_015091 NP_055906 Q9Y4F4 F179B_HUMAN hypothetical protein LOC23116 1311 binding skin(2)|upper_aerodigestive_tract(1) 3 AAAAATTTACGTTCTGGAGTT 0.308 NA 15 26 3.41278e-10 3.99324e-10 0.00499 1 0 BMP4 652 broad.mit.edu 37 14 54417449 54417449 + Silent SNP G G A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr14:54417449G>A uc001xal.3 - 3 715 c.528C>T c.(526-528)CAC>CAT p.H176H BMP4_uc010aoh.2_Silent_p.H176H|BMP4_uc001xao.3_Silent_p.H176H|BMP4_uc001xan.3_Silent_p.H176H NM_130851 NP_570912 P12644 BMP4_HUMAN bone morphogenetic protein 4 preproprotein 176 activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway extracellular space|proteinaceous extracellular matrix BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity 0 TGTTTATACGGTGGAAGCCCC 0.562 NA 5 25 0 0 0.001168 0 0 KTN1 3895 broad.mit.edu 37 14 56122831 56122831 + Missense_Mutation SNP G G C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr14:56122831G>C uc001xcb.2 + 30 3175 c.2873G>C c.(2872-2874)AGC>ACC p.S958T KTN1_uc001xce.2_Missense_Mutation_p.S958T|KTN1_uc001xcc.2_Missense_Mutation_p.S958T|KTN1_uc001xcd.2_Missense_Mutation_p.S935T|KTN1_uc010trb.1_Missense_Mutation_p.S958T|KTN1_uc001xcf.1_Missense_Mutation_p.S935T|KTN1_uc010aoq.2_Missense_Mutation_p.S253T NM_182926 NP_891556 Q86UP2 KTN1_HUMAN kinectin 1 isoform a 958 Lumenal (Potential).|Potential. microtubule-based movement endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction breast(3)|ovary(2)|lung(1)|central_nervous_system(1) 7 GATCTTTCTAGCAAAACACAG 0.303 NA T RET papillary thryoid 14 45 0 0 0.004007 0 0 PLEKHH1 57475 broad.mit.edu 37 14 68029127 68029127 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr14:68029127G>T uc001xjl.1 + 7 921 c.779G>T c.(778-780)GGA>GTA p.G260V NM_020715 NP_065766 Q9ULM0 PKHH1_HUMAN pleckstrin homology domain containing, family H 260 cytoskeleton binding 0 all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011) CCTCATCTGGGAAGAGAGAGC 0.542 NA 24 37 1.71298e-08 1.95232e-08 0.003755 1 0 STON2 85439 broad.mit.edu 37 14 81837395 81837395 + Missense_Mutation SNP C C G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr14:81837395C>G uc010tvu.1 - 3 709 c.508G>C c.(508-510)GAT>CAT p.D170H STON2_uc001xvk.1_Missense_Mutation_p.D170H NM_033104 NP_149095 Q8WXE9 STON2_HUMAN stonin 2 170 endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding skin(3)|pancreas(2) 5 BRCA - Breast invasive adenocarcinoma(234;0.0348) AGCTGCAGATCTGTATACGAA 0.532 NA 58 182 0 0 0.00361 0 0 SLC24A4 123041 broad.mit.edu 37 14 92959901 92959901 + Missense_Mutation SNP T T A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr14:92959901T>A uc001yak.2 + 17 1771 c.1747T>A c.(1747-1749)TGC>AGC p.C583S SLC24A4_uc001yai.2_Missense_Mutation_p.C536S|SLC24A4_uc010twm.1_Missense_Mutation_p.C581S|SLC24A4_uc001yaj.2_Missense_Mutation_p.C564S|SLC24A4_uc010auj.2_3'UTR|SLC24A4_uc010twn.1_Missense_Mutation_p.C356S|SLC24A4_uc001yan.2_Missense_Mutation_p.C294S NM_153646 NP_705932 Q8NFF2 NCKX4_HUMAN solute carrier family 24 member 4 isoform 1 600 Helical; (Potential). integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(2)|ovary(1) 3 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) CATCTTCTTGTGCTTCTCCAT 0.552 NSCLC(10;315 435 10383 28450 38798) NA 12 34 0 0 0.001855 0 0 C14orf177 283598 broad.mit.edu 37 14 99182659 99182659 + Missense_Mutation SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr14:99182659C>T uc001yfz.1 + 3 550 c.131C>T c.(130-132)TCT>TTT p.S44F NM_182560 NP_872366 Q52M58 CN177_HUMAN hypothetical protein LOC283598 44 0 Melanoma(154;0.128) TGCCCAAGTTCTCAGCACCTG 0.532 NA 48 81 0 0 0.00361 0 0 C14orf177 283598 broad.mit.edu 37 14 99182700 99182700 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr14:99182700C>A uc001yfz.1 + 3 591 c.172C>A c.(172-174)CTG>ATG p.L58M NM_182560 NP_872366 Q52M58 CN177_HUMAN hypothetical protein LOC283598 58 0 Melanoma(154;0.128) GCAGCATGCCCTGACGCTCAC 0.473 NA 18 93 7.45023e-12 8.97485e-12 0.010504 1 0 SLC12A1 6557 broad.mit.edu 37 15 48500154 48500154 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr15:48500154G>T uc001zwn.3 + 2 454 c.238G>T c.(238-240)GCT>TCT p.A80S SLC12A1_uc010uew.1_Intron|SLC12A1_uc010bem.2_Missense_Mutation_p.A80S|SLC12A1_uc010uex.1_Missense_Mutation_p.A80S NM_000338 NP_000329 Q13621 S12A1_HUMAN sodium potassium chloride cotransporter 2 80 Cytoplasmic (Potential). potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity ovary(1)|central_nervous_system(1) 2 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) TGGAGAAACTGCTAAAACAGA 0.428 NA 21 57 3.7963e-18 4.93779e-18 0.00333 1 0 DMXL2 23312 broad.mit.edu 37 15 51829946 51829946 + Silent SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr15:51829946C>A uc002abf.2 - 11 1581 c.1356G>T c.(1354-1356)CTG>CTT p.L452L DMXL2_uc010ufy.1_Silent_p.L452L|DMXL2_uc010bfa.2_Silent_p.L452L NM_015263 NP_056078 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 452 cell junction|synaptic vesicle membrane Rab GTPase binding ovary(6)|skin(3) 9 all cancers(107;0.00494) ATTCTCTATCCAGGGATAAAT 0.338 NA 47 94 3.57465e-26 5.0274e-26 0.00361 1 0 KIAA1370 56204 broad.mit.edu 37 15 52902041 52902041 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr15:52902041C>A uc002acg.3 - 6 1223 c.1070G>T c.(1069-1071)GGT>GTT p.G357V KIAA1370_uc002ach.3_RNA|KIAA1370_uc010bfg.1_Missense_Mutation_p.G269V|KIAA1370_uc010ugf.1_Missense_Mutation_p.G364V NM_019600 NP_062546 Q32MH5 K1370_HUMAN hypothetical protein LOC56204 357 0 all cancers(107;0.0803) GTTAGTCTCACCAGCTGACTG 0.388 NA 11 15 1.3612e-06 1.51215e-06 0.003163 1 0 MAP2K1 5604 broad.mit.edu 37 15 66727455 66727455 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr15:66727455G>T uc010bhq.2 + 2 646 c.171G>T c.(169-171)AAG>AAT p.K57N MAP2K1_uc010ujp.1_Missense_Mutation_p.K35N NM_002755 NP_002746 Q02750 MP2K1_HUMAN mitogen-activated protein kinase kinase 1 57 activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|plasma membrane ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 TTACCCAGAAGCAGAAGGTGG 0.542 NA Cardiofaciocutaneous_syndrome 133 428 1.13329e-80 1.99724e-80 0.00361 1 0 ITGA11 22801 broad.mit.edu 37 15 68596108 68596108 + Splice_Site SNP A A T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr15:68596108A>T uc002ari.2 - 29 3582 c.3495_splice c.e29+1 p.K1165_splice ITGA11_uc010bib.2_Splice_Site_p.K1166_splice NM_001004439 NP_001004439 Q9UKX5 ITA11_HUMAN integrin, alpha 11 precursor cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity kidney(2)|pancreas(1) 3 Tirofiban(DB00775) CAGGGCCCTCACCTTCCACAG 0.662 NA 16 35 0 0 0.010504 0 0 NOX5 79400 broad.mit.edu 37 15 69335109 69335109 + Missense_Mutation SNP G G C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr15:69335109G>C uc002ars.1 + 10 1631 c.1611G>C c.(1609-1611)AGG>AGC p.R537S NOX5_uc002arp.1_Missense_Mutation_p.R519S|NOX5_uc002arq.1_Missense_Mutation_p.R491S|NOX5_uc010bid.1_Missense_Mutation_p.R502S|NOX5_uc002arr.1_Missense_Mutation_p.R509S|NOX5_uc010bie.1_Missense_Mutation_p.R337S|NOX5_uc010bif.1_RNA NM_024505 NP_078781 Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 537 FAD-binding FR-type.|Cytoplasmic (Potential).|C-terminal catalytic region. angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity breast(1)|pancreas(1) 2 GGCTGTCGAGGAGTGTGACAA 0.557 NA 24 271 0 0 0.002096 0 0 MYO9A 4649 broad.mit.edu 37 15 72197314 72197314 + Nonsense_Mutation SNP G G A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr15:72197314G>A uc002atl.3 - 20 3192 c.2719C>T c.(2719-2721)CAA>TAA p.Q907* MYO9A_uc010biq.2_Nonsense_Mutation_p.Q527*|MYO9A_uc002atn.1_Nonsense_Mutation_p.Q888* NM_006901 NP_008832 B2RTY4 MYO9A_HUMAN myosin IXA 907 Actin-binding (By similarity).|Myosin head-like 2. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity ovary(1)|pancreas(1)|skin(1) 3 GGTTCTGCTTGACCAAGTGTT 0.328 NA 27 607 0 0 0.005524 0 0 LOC645752 645752 broad.mit.edu 37 15 78211427 78211427 + Missense_Mutation SNP G G T rs71145882 TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr15:78211427G>T uc010bky.2 - 11 1104 c.340C>A c.(340-342)CTC>ATC p.L114I NR_027024 SubName: Full=GOLGA6 protein; Flags: Fragment; 0 TGCTCTCGGAGCATCTCCTCC 0.587 NA 14 26 3.51602e-12 4.27159e-12 0.008871 1 0 AP3B2 8120 broad.mit.edu 37 15 83349659 83349659 + Nonsense_Mutation SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr15:83349659C>T uc010uoh.1 - 7 878 c.701G>A c.(700-702)TGG>TAG p.W234* AP3B2_uc010uoi.1_Nonsense_Mutation_p.W234*|AP3B2_uc010uoj.1_Nonsense_Mutation_p.W202*|AP3B2_uc010uog.1_5'Flank NM_004644 NP_004635 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 234 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity ovary(3)|breast(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(143;0.229) CACCTGGCCCCACTCCTCCAC 0.612 NA 5 28 0 0 0.001168 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84651595 84651595 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr15:84651595C>A uc002bjz.3 + 21 3439 c.3215C>A c.(3214-3216)TCC>TAC p.S1072Y ADAMTSL3_uc010bmt.1_Missense_Mutation_p.S1072Y|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.S1072Y NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 1072 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) AGCACCAACTCCTGGGAGTTG 0.433 NA 82 123 7.22319e-40 1.14568e-39 0.00361 1 0 WDR93 56964 broad.mit.edu 37 15 90245192 90245192 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr15:90245192G>T uc002boj.2 + 2 316 c.215G>T c.(214-216)TGG>TTG p.W72L WDR93_uc002bok.3_Missense_Mutation_p.W72L|WDR93_uc010bnr.2_Missense_Mutation_p.W72L NM_020212 NP_064597 Q6P2C0 WDR93_HUMAN WD repeat domain 93 72 electron transport chain mitochondrial inner membrane oxidoreductase activity, acting on NADH or NADPH ovary(2) 2 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) GACCAGTCTTGGGAAATTATT 0.502 NA 42 59 9.39024e-22 1.28273e-21 0.009718 1 0 ARRDC4 91947 broad.mit.edu 37 15 98512352 98512352 + Splice_Site SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr15:98512352G>T uc010bom.2 + 5 785 c.626_splice c.e5-1 p.G209_splice ARRDC4_uc002bui.3_Splice_Site_p.G122_splice NM_183376 NP_899232 Q8NCT1 ARRD4_HUMAN arrestin domain containing 4 signal transduction 0 Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222) OV - Ovarian serous cystadenocarcinoma(32;0.0417) TTTCTTTTTAGGAGAAGCTAT 0.393 NA 9 18 5.50884e-06 6.00295e-06 0.001368 1 0 LRRK1 79705 broad.mit.edu 37 15 101597252 101597252 + Silent SNP G G A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr15:101597252G>A uc002bwr.2 + 28 4843 c.4524G>A c.(4522-4524)GAG>GAA p.E1508E LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bws.2_RNA NM_024652 NP_078928 Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 1508 Protein kinase. small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1) 12 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CTAAGCCAGAGAAGGTACTTG 0.647 NA 10 20 0 0 0.008291 0 0 OR4F6 390648 broad.mit.edu 37 15 102346241 102346241 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr15:102346241G>T uc010utr.1 + 1 319 c.319G>T c.(319-321)GTT>TTT p.V107F NM_001005326 NP_001005326 Q8NGB9 OR4F6_HUMAN olfactory receptor, family 4, subfamily F, 107 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) TATCCATGCAGTTGGGGGAAC 0.473 NA 147 659 3.69633e-99 6.61632e-99 0.00361 1 0 WASH3P 374666 broad.mit.edu 37 15 102515299 102515299 + Missense_Mutation SNP G G A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr15:102515299G>A uc002cdi.2 + 9 1943 c.523G>A c.(523-525)GGC>AGC p.G175S WASH3P_uc002cdl.2_Missense_Mutation_p.G175S|WASH3P_uc002cdk.2_RNA|WASH3P_uc002cdp.2_Missense_Mutation_p.G175S|WASH3P_uc010bpo.2_RNA|WASH3P_uc002cdq.2_RNA|WASH3P_uc002cdr.2_RNA NR_003659 RecName: Full=WAS protein family homolog 2; AltName: Full=Protein FAM39B; AltName: Full=CXYorf1-like protein on chromosome 2; 0 TGGGGGCATCGGCAAGGCCAA 0.652 NA 2 3 0 0 0.009096 0 0 ZG16B 124220 broad.mit.edu 37 16 2881957 2881957 + Missense_Mutation SNP T T A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr16:2881957T>A uc002cru.2 + 4 500 c.424T>A c.(424-426)TAT>AAT p.Y142N NM_145252 NP_660295 Q96DA0 ZG16B_HUMAN zymogen granule protein 16 homolog B precursor 142 extracellular region sugar binding ovary(1) 1 CAAGGACCGCTATTTCTATTT 0.542 NA 8 13 0 0 0.008291 0 0 UBN1 29855 broad.mit.edu 37 16 4924652 4924652 + Silent SNP G G A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr16:4924652G>A uc002cyb.2 + 15 2580 c.2241G>A c.(2239-2241)GGG>GGA p.G747G UBN1_uc010uxw.1_Silent_p.G747G|UBN1_uc002cyc.2_Silent_p.G747G NM_001079514 NP_001072982 Q9NPG3 UBN1_HUMAN ubinuclein 1 747 chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity skin(2) 2 TGGCACTGGGGCAGTCCTCTC 0.527 NA 35 98 0 0 0.009718 0 0 GRIN2A 2903 broad.mit.edu 37 16 9943739 9943739 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr16:9943739G>T uc002czo.3 - 5 1750 c.1202C>A c.(1201-1203)CCG>CAG p.P401Q GRIN2A_uc010uym.1_Missense_Mutation_p.P401Q|GRIN2A_uc010uyn.1_Missense_Mutation_p.P244Q|GRIN2A_uc002czr.3_Missense_Mutation_p.P401Q NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 401 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GTTGTCATCCGGCTCACAGTC 0.587 NA 73 154 2.9056e-39 4.59584e-39 0.00361 1 0 CLEC16A 23274 broad.mit.edu 37 16 11219945 11219945 + Silent SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr16:11219945G>T uc002dao.2 + 22 2813 c.2583G>T c.(2581-2583)CGG>CGT p.R861R CLEC16A_uc002dan.3_Silent_p.R843R|CLEC16A_uc002dap.2_5'UTR NM_015226 NP_056041 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 861 ovary(1)|central_nervous_system(1) 2 AGGGGCGCCGGGGCAGCAGCG 0.657 NA 10 25 5.01169e-05 5.37909e-05 0.00499 1 0 XYLT1 64131 broad.mit.edu 37 16 17221646 17221646 + Silent SNP G G A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr16:17221646G>A uc002dfa.2 - 10 2185 c.2100C>T c.(2098-2100)ATC>ATT p.I700I NM_022166 NP_071449 Q86Y38 XYLT1_HUMAN xylosyltransferase I 700 Lumenal (Potential). glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity ovary(4) 4 CATGATGCTTGATCAGAAAGC 0.517 NA 60 195 0 0 0.00361 0 0 XYLT1 64131 broad.mit.edu 37 16 17221699 17221699 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr16:17221699G>T uc002dfa.2 - 10 2132 c.2047C>A c.(2047-2049)CCA>ACA p.P683T NM_022166 NP_071449 Q86Y38 XYLT1_HUMAN xylosyltransferase I 683 Lumenal (Potential). glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity ovary(4) 4 ACAGATGCTGGGTGGCCCATT 0.527 NA 82 81 1.63847e-34 2.49484e-34 0.00361 1 0 XYLT1 64131 broad.mit.edu 37 16 17228362 17228362 + Silent SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr16:17228362C>A uc002dfa.2 - 9 2080 c.1995G>T c.(1993-1995)ACG>ACT p.T665T NM_022166 NP_071449 Q86Y38 XYLT1_HUMAN xylosyltransferase I 665 Lumenal (Potential). glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity ovary(4) 4 TGTGCAGGGACGTCTCGGCCC 0.607 NA 13 52 5.26018e-13 6.48717e-13 0.001882 1 0 POLR3E 55718 broad.mit.edu 37 16 22325425 22325425 + Silent SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr16:22325425G>T uc002dkk.2 + 8 654 c.498G>T c.(496-498)GCG>GCT p.A166A POLR3E_uc002dkj.1_Silent_p.A166A|POLR3E_uc002dkm.2_Silent_p.A130A|POLR3E_uc010vbr.1_Silent_p.A166A|POLR3E_uc002dkl.2_Silent_p.A166A|POLR3E_uc010vbs.1_Silent_p.A130A|POLR3E_uc010vbt.1_Silent_p.A110A NM_018119 NP_060589 Q9NVU0 RPC5_HUMAN RNA polymerase III polypeptide E 166 innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA-directed RNA polymerase activity ovary(1)|central_nervous_system(1) 2 GBM - Glioblastoma multiforme(48;0.012) AGGATGAGGCGGAAGACGATG 0.637 NA 8 17 0.00010058 0.000107148 0.001368 1 0 CLN3 1201 broad.mit.edu 37 16 28498827 28498827 + Missense_Mutation SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr16:28498827C>T uc002dpo.2 - 6 733 c.410G>A c.(409-411)GGA>GAA p.G137E uc010vct.1_Intron|CLN3_uc002dpl.2_Missense_Mutation_p.G59E|CLN3_uc010vcu.1_Missense_Mutation_p.G37E|CLN3_uc002dpn.2_Nonsense_Mutation_p.W110*|CLN3_uc002dpm.2_Missense_Mutation_p.G83E|CLN3_uc010vcv.1_Missense_Mutation_p.G113E|CLN3_uc010byd.2_Missense_Mutation_p.G137E|CLN3_uc002dpp.2_Missense_Mutation_p.G137E|CLN3_uc002dpt.1_Missense_Mutation_p.G37E|CLN3_uc002dpq.1_Missense_Mutation_p.G137E|CLN3_uc010bye.1_Missense_Mutation_p.G137E|CLN3_uc002dpr.1_RNA|CLN3_uc010byf.1_RNA|CLN3_uc002dps.1_Nonsense_Mutation_p.W82*|CLN3_uc002dpu.1_Missense_Mutation_p.G83E|CLN3_uc002dpw.1_Nonsense_Mutation_p.W56*|CLN3_uc010vcw.1_Missense_Mutation_p.G83E|CLN3_uc002dqa.2_Missense_Mutation_p.G188E|CLN3_uc010vcx.1_Missense_Mutation_p.G37E|CLN3_uc002dpx.1_Nonsense_Mutation_p.W86*|CLN3_uc002dpy.1_Nonsense_Mutation_p.W53*|CLN3_uc002dpz.1_RNA NM_000086 NP_000077 Q13286 CLN3_HUMAN ceroid-lipofuscinosis, neuronal 3 137 Helical; (Potential). amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network unfolded protein binding 0 GACGAAGCTTCCAGCAGCACA 0.592 NA 8 33 0 0 0.008291 0 0 ATXN2L 11273 broad.mit.edu 37 16 28844674 28844674 + Missense_Mutation SNP G G C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr16:28844674G>C uc002drc.2 + 14 2122 c.1954G>C c.(1954-1956)GAA>CAA p.E652Q uc010vct.1_Intron|ATXN2L_uc010byl.1_3'UTR|ATXN2L_uc002drb.2_Missense_Mutation_p.E652Q|ATXN2L_uc002dqy.2_Missense_Mutation_p.E652Q|ATXN2L_uc002dra.2_Missense_Mutation_p.E652Q|ATXN2L_uc002dqz.2_Missense_Mutation_p.E652Q|ATXN2L_uc010vdb.1_Missense_Mutation_p.E658Q|ATXN2L_uc002dre.2_Missense_Mutation_p.E652Q|ATXN2L_uc002drf.2_Missense_Mutation_p.E61Q|ATXN2L_uc002drg.2_5'Flank NM_007245 NP_009176 Q8WWM7 ATX2L_HUMAN ataxin 2 related protein isoform A 652 membrane upper_aerodigestive_tract(1)|ovary(1) 2 CCCTGTTGCTGAGTGAGTGGA 0.577 NA 12 19 0 0 0.004007 0 0 SALL1 6299 broad.mit.edu 37 16 51172949 51172949 + Missense_Mutation SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr16:51172949C>T uc010vgs.1 - 2 3215 c.3184G>A c.(3184-3186)GAG>AAG p.E1062K SALL1_uc010vgr.1_Missense_Mutation_p.E965K|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 1062 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) GAACTGGGCTCAAAGAGCTGG 0.488 GBM(103;1352 1446 1855 4775 8890) NA 3 44 0 0 0.009096 0 0 RPGRIP1L 23322 broad.mit.edu 37 16 53726179 53726179 + Missense_Mutation SNP C C G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr16:53726179C>G uc002ehp.2 - 4 392 c.328G>C c.(328-330)GAA>CAA p.E110Q RPGRIP1L_uc002eho.3_Missense_Mutation_p.E110Q|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.E110Q|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.E110Q|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.E110Q|RPGRIP1L_uc002ehq.1_Missense_Mutation_p.E110Q NM_015272 NP_056087 Q68CZ1 FTM_HUMAN RPGRIP1-like isoform a 110 Potential. negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding ovary(1) 1 all_cancers(37;0.0973) TCAATCATTTCTTCCATTTCC 0.448 NA 15 106 0 0 0.007413 0 0 MLKL 197259 broad.mit.edu 37 16 74708939 74708939 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr16:74708939C>A uc002fdb.2 - 10 1741 c.1300G>T c.(1300-1302)GGT>TGT p.G434C MLKL_uc002fdc.2_Missense_Mutation_p.G226C NM_152649 NP_689862 Q8NB16 MLKL_HUMAN mixed lineage kinase domain-like isoform 1 434 Protein kinase. ATP binding|protein binding|protein kinase activity stomach(2) 2 CAGTCTTCACCCAGTGGCTCC 0.552 NA 9 40 1.15919e-05 1.25836e-05 0.008871 1 0 PLCG2 5336 broad.mit.edu 37 16 81957157 81957157 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr16:81957157G>T uc002fgt.2 + 22 2527 c.2375G>T c.(2374-2376)CGT>CTT p.R792L NM_002661 NP_002652 P16885 PLCG2_HUMAN phospholipase C, gamma 2 792 SH3. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity large_intestine(4)|lung(2)|ovary(1)|skin(1) 8 AGCTTCTGCCGTGGTGCCCTC 0.567 NA 21 24 3.73988e-18 4.87551e-18 0.00632 1 0 MTHFSD 64779 broad.mit.edu 37 16 86582165 86582165 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr16:86582165C>A uc002fjn.2 - 4 307 c.256G>T c.(256-258)GTT>TTT p.V86F MTHFSD_uc010voo.1_Missense_Mutation_p.V66F|MTHFSD_uc002fjo.2_5'UTR|MTHFSD_uc002fjm.2_Missense_Mutation_p.V85F|MTHFSD_uc010vop.1_5'UTR|MTHFSD_uc010voq.1_Missense_Mutation_p.V85F|MTHFSD_uc010vor.1_Missense_Mutation_p.V86F|MTHFSD_uc002fjp.2_Missense_Mutation_p.V66F NM_001159377 NP_001152849 Q2M296 MTHSD_HUMAN methenyltetrahydrofolate synthetase domain 86 folic acid-containing compound biosynthetic process 5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding 0 GGTGTTGGAACCAACAATGTT 0.358 NA 9 34 0.00829132 0.008515 0.008291 1 0 OR1A1 8383 broad.mit.edu 37 17 3119135 3119135 + Nonsense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr17:3119135C>A uc010vrc.1 + 1 221 c.221C>A c.(220-222)TCA>TAA p.S74* NM_014565 NP_055380 Q9P1Q5 OR1A1_HUMAN olfactory receptor, family 1, subfamily A, 74 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 ATCTTCTTCTCATCGGTAACC 0.483 NA 300 413 1.11038e-139 2.02564e-139 0.00361 1 0 SHPK 23729 broad.mit.edu 37 17 3514090 3514090 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr17:3514090C>A uc002fvz.1 - 7 1304 c.1201G>T c.(1201-1203)GCT>TCT p.A401S TRPV1_uc010vru.1_5'Flank NM_013276 NP_037408 Q9UHJ6 SHPK_HUMAN carbohydrate kinase-like 401 carbohydrate metabolic process cytoplasm ATP binding|sedoheptulokinase activity ovary(1) 1 COAD - Colon adenocarcinoma(5;0.0828) CGGCACAGAGCCCGGGTCACG 0.647 NA 8 44 0.00829132 0.008515 0.008291 1 0 C17orf81 23587 broad.mit.edu 37 17 7160226 7160226 + Missense_Mutation SNP G G A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr17:7160226G>A uc002gfg.1 + 6 615 c.508G>A c.(508-510)GAG>AAG p.E170K C17orf81_uc002gfj.2_Missense_Mutation_p.E170K|C17orf81_uc010cmb.2_Missense_Mutation_p.E170K|C17orf81_uc002gfh.1_Missense_Mutation_p.E170K|C17orf81_uc002gfi.1_Missense_Mutation_p.E170K|C17orf81_uc002gfl.1_Missense_Mutation_p.E170K NM_203415 NP_981960 Q8TE02 DERP6_HUMAN S-phase 2 protein isoform 4 170 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding 0 GCTACATGAAGAGCTTCATGG 0.582 NA 6 50 0 0 0.006214 0 0 TP53 7157 broad.mit.edu 37 17 7578177 7578177 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr17:7578177C>A uc002gim.2 - 6 866 c.672G>T c.(670-672)GAG>GAT p.E224D TP53_uc002gig.1_Missense_Mutation_p.E224D|TP53_uc002gih.2_Missense_Mutation_p.E224D|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E92D|TP53_uc010cng.1_Missense_Mutation_p.E92D|TP53_uc002gii.1_Missense_Mutation_p.E92D|TP53_uc010cnh.1_Missense_Mutation_p.E224D|TP53_uc010cni.1_Missense_Mutation_p.E224D|TP53_uc002gij.2_Missense_Mutation_p.E224D|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.E131D|TP53_uc002gio.2_Missense_Mutation_p.E92D|TP53_uc010vug.1_Missense_Mutation_p.E185D NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 224 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E224D(11)|p.0?(7)|p.E224E(6)|p.E224K(5)|p.E224*(4)|p.?(3)|p.E224G(2)|p.E224fs*4(1)|p.E224fs*5(1)|p.V218_E224delVPYEPPE(1)|p.E224fs*23(1)|p.V225fs*24(1)|p.E224fs*24(1)|p.E224_V225insXX(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CAAACCAGACCTCAGGCGGCT 0.522 Pancreas(47;798 1329 9957 10801) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 31 31 6.29468e-14 7.83064e-14 0.004878 1 0 WDR16 146845 broad.mit.edu 37 17 9546400 9546400 + Missense_Mutation SNP G G A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr17:9546400G>A uc002gly.2 + 14 1817 c.1748G>A c.(1747-1749)GGG>GAG p.G583E USP43_uc002gma.3_5'Flank|USP43_uc010cod.2_5'Flank|USP43_uc010vva.1_5'Flank|WDR16_uc002glz.2_Missense_Mutation_p.G515E|WDR16_uc010coc.2_Missense_Mutation_p.G593E NM_145054 NP_659491 Q8N1V2 WDR16_HUMAN WD40-repeat protein upregulated in HCC isoform 583 cytoplasm|intracellular membrane-bounded organelle protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 ACTCACGTTGGGGTGGGACAC 0.443 NA 5 57 0 0 0.000602 0 0 SLFN13 146857 broad.mit.edu 37 17 33767735 33767735 + Missense_Mutation SNP G G A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr17:33767735G>A uc002hjk.1 - 4 2903 c.2573C>T c.(2572-2574)TCA>TTA p.S858L SLFN13_uc010wch.1_Missense_Mutation_p.S858L|SLFN13_uc002hjl.2_Missense_Mutation_p.S858L|SLFN13_uc010ctt.2_Missense_Mutation_p.S540L|SLFN13_uc002hjm.2_Missense_Mutation_p.S527L NM_144682 NP_653283 Q68D06 SLN13_HUMAN schlafen family member 13 858 intracellular ATP binding ovary(1)|breast(1) 2 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) TTCCAGGCCTGAGAATCGCCG 0.488 NA 8 232 0 0 0.00308 0 0 ZPBP2 124626 broad.mit.edu 37 17 38033026 38033026 + Silent SNP A A T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr17:38033026A>T uc002hte.2 + 8 1134 c.981A>T c.(979-981)CCA>CCT p.P327P ZPBP2_uc002htf.2_Silent_p.P305P NM_199321 NP_955353 Q6X784 ZPBP2_HUMAN zona pellucida binding protein 2 isoform 2 327 binding of sperm to zona pellucida extracellular region ovary(1) 1 Colorectal(19;0.000442) Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171) AATCTTGCCCACAAACTTCAA 0.418 NA 47 156 0 0 0.00361 0 0 KRTAP4-4 84616 broad.mit.edu 37 17 39316831 39316831 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr17:39316831G>T uc002hwc.2 - 1 153 c.113C>A c.(112-114)CCC>CAC p.P38H NM_032524 NP_115913 Q9BYR3 KRA44_HUMAN keratin associated protein 4.4 38 26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].|4. keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) ACAGCAGCTGGGGCGGCAGCA 0.652 NA 40 59 3.76287e-55 6.37566e-55 0.00361 1 0 STAT3 6774 broad.mit.edu 37 17 40483494 40483494 + Missense_Mutation SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr17:40483494C>T uc002hzl.1 - 11 1345 c.1105G>A c.(1105-1107)GAC>AAC p.D369N STAT3_uc002hzk.1_Missense_Mutation_p.D369N|STAT3_uc002hzm.1_Missense_Mutation_p.D369N|STAT3_uc010wgh.1_Missense_Mutation_p.D271N|STAT3_uc002hzn.1_Missense_Mutation_p.D369N NM_139276 NP_644805 P40763 STAT3_HUMAN signal transducer and activator of transcription 369 cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding ovary(1)|lung(1)|breast(1)|central_nervous_system(1) 4 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) ACTTACTTGTCAATGCACACT 0.323 NA Hyperimmunoglobulin_E_Recurrent_Infection_Syndrome 4 22 0 0 0.009096 0 0 MYL4 4635 broad.mit.edu 37 17 45299121 45299121 + Silent SNP G G A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr17:45299121G>A uc002ilg.2 + 5 515 c.387G>A c.(385-387)CAG>CAA p.Q129Q MYL4_uc002ilh.2_Silent_p.Q129Q NM_001002841 NP_001002841 P12829 MYL4_HUMAN atrial/embryonic alkali myosin light chain 129 cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction A band|cytosol|muscle myosin complex actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle ovary(2) 2 ACAAGGAGCAGGGCACCTATG 0.557 NA 5 126 0 0 0.001168 0 0 SCRN2 90507 broad.mit.edu 37 17 45915657 45915657 + Silent SNP C C T rs147761976 byFrequency TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr17:45915657C>T uc002imd.2 - 7 1224 c.1098G>A c.(1096-1098)CTG>CTA p.L366L SCRN2_uc002imc.2_Silent_p.L374L|SCRN2_uc002imf.2_Silent_p.L366L|SCRN2_uc002ime.2_RNA NM_138355 NP_612364 Q96FV2 SCRN2_HUMAN secernin 2 isoform 1 366 proteolysis dipeptidase activity ovary(1) 1 CCATCAGCCCCAGGGCTGCCT 0.592 NA 3 29 0 0 0.009096 0 0 OR4D2 124538 broad.mit.edu 37 17 56247349 56247349 + Missense_Mutation SNP G G C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr17:56247349G>C uc010wnp.1 + 1 333 c.333G>C c.(331-333)ATG>ATC p.M111I NM_001004707 NP_001004707 P58180 OR4D2_HUMAN olfactory receptor, family 4, subfamily D, 111 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 GAGGTGCCATGGTCTTCTTCC 0.547 NA 85 51 0 0 0.00361 0 0 BCAS3 54828 broad.mit.edu 37 17 59161869 59161869 + Missense_Mutation SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr17:59161869C>T uc002iyv.3 + 23 2523 c.2414C>T c.(2413-2415)TCA>TTA p.S805L BCAS3_uc002iyu.3_Missense_Mutation_p.S790L|BCAS3_uc002iyw.3_Missense_Mutation_p.S786L|BCAS3_uc002iyy.3_Missense_Mutation_p.S561L|BCAS3_uc002iyz.3_Missense_Mutation_p.S359L|BCAS3_uc002iza.3_Missense_Mutation_p.S344L NM_001099432 NP_001092902 Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 isoform 1 805 nucleus ovary(2)|central_nervous_system(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) ATGCCAGGGTCATCCCGTCCA 0.473 NA 21 82 0 0 0.002096 0 0 LRRC37A3 374819 broad.mit.edu 37 17 62856639 62856639 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr17:62856639G>T uc002jey.2 - 11 4156 c.3625C>A c.(3625-3627)CCA>ACA p.P1209T LRRC37A3_uc010wqg.1_Missense_Mutation_p.P327T|LRRC37A3_uc002jex.1_Missense_Mutation_p.P186T|LRRC37A3_uc010wqf.1_Missense_Mutation_p.P247T|LRRC37A3_uc010dek.1_Missense_Mutation_p.P215T NM_199340 NP_955372 O60309 L37A3_HUMAN leucine rich repeat containing 37, member A3 1209 Extracellular (Potential). integral to membrane 0 CTTGGGGCTGGACTTCCGAGC 0.552 NA 26 14 3.76114e-14 4.6891e-14 0.004289 1 0 OTOP3 347741 broad.mit.edu 37 17 72938029 72938029 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr17:72938029G>T uc010wrr.1 + 3 524 c.524G>T c.(523-525)TGC>TTC p.C175F OTOP3_uc010wrq.1_Missense_Mutation_p.C157F NM_178233 NP_839947 Q7RTS5 OTOP3_HUMAN otopetrin 3 175 Helical; (Potential). integral to membrane|intracellular zinc ion binding ovary(1) 1 all_lung(278;0.151)|Lung NSC(278;0.185) TGCACCTTCTGCCTCAACATC 0.622 NA 24 14 8.88839e-20 1.18305e-19 0.002096 1 0 TNRC6C 57690 broad.mit.edu 37 17 76045357 76045357 + Missense_Mutation SNP G G A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr17:76045357G>A uc002jud.2 + 4 814 c.214G>A c.(214-216)GGA>AGA p.G72R TNRC6C_uc002juf.2_Missense_Mutation_p.G72R|TNRC6C_uc002jue.2_Missense_Mutation_p.G72R NM_018996 NP_061869 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C isoform 2 72 Sufficient for interaction with argonaute family proteins. gene silencing by RNA|regulation of translation nucleotide binding|RNA binding ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) TGGTGGGGATGGAAAAATGGA 0.522 NA 13 116 0 0 0.003163 0 0 TNRC6C 57690 broad.mit.edu 37 17 76061008 76061008 + Silent SNP G G A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr17:76061008G>A uc002jud.2 + 5 3201 c.2601G>A c.(2599-2601)CTG>CTA p.L867L TNRC6C_uc002juf.2_Silent_p.L864L|TNRC6C_uc002jue.2_Silent_p.L864L NM_018996 NP_061869 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C isoform 2 867 Sufficient for interaction with argonaute family proteins. gene silencing by RNA|regulation of translation nucleotide binding|RNA binding ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) CCTCAGCCCTGTGCAAACCAG 0.532 NA 6 3 0 0 0.001168 0 0 CBX2 84733 broad.mit.edu 37 17 77757733 77757733 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr17:77757733G>T uc002jxc.2 + 5 533 c.491G>T c.(490-492)CGG>CTG p.R164L NM_005189 NP_005180 Q14781 CBX2_HUMAN chromobox homolog 2 isoform 1 164 Nuclear localization signal (Potential). cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex DNA binding 0 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) CGGAAGAAGCGGGGACGAAAG 0.677 NA 4 1 1.06961e-07 1.20463e-07 0.00308 1 0 RNF213 57674 broad.mit.edu 37 17 78343442 78343442 + Missense_Mutation SNP A A G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr17:78343442A>G uc002jyh.1 + 20 6738 c.6515A>G c.(6514-6516)CAA>CGA p.Q2172R uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.Q554R NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:Variant_position_missing_in_Q9HCF4_after_alignment ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) CTCTTCGTCCAAAAGGGGCGC 0.502 NA 3 47 0 0 0.004672 0 0 SECTM1 6398 broad.mit.edu 37 17 80280050 80280050 + Missense_Mutation SNP G G C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr17:80280050G>C uc002keo.2 - 5 1132 c.734C>G c.(733-735)GCC>GGC p.A245G SECTM1_uc002ken.2_Missense_Mutation_p.A243G|SECTM1_uc002kep.2_3'UTR NM_003004 NP_002995 Q8WVN6 SCTM1_HUMAN secreted and transmembrane 1 precursor 245 Cytoplasmic (Potential). immune response|mesoderm development|positive regulation of I-kappaB kinase/NF-kappaB cascade extracellular space|Golgi apparatus|integral to membrane|plasma membrane cytokine activity|signal transducer activity 0 Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249) OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833) TGGGTCTGCGGCATATGGAAA 0.657 NA 6 2 0 0 0.006214 0 0 DLGAP1 9229 broad.mit.edu 37 18 3742422 3742422 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr18:3742422G>T uc002kmf.2 - 3 1330 c.1263C>A c.(1261-1263)GAC>GAA p.D421E DLGAP1_uc010wyz.1_Missense_Mutation_p.D421E|DLGAP1_uc002kme.1_Missense_Mutation_p.D119E|DLGAP1_uc010dkn.2_Missense_Mutation_p.D119E|DLGAP1_uc010wyw.1_Missense_Mutation_p.D127E|DLGAP1_uc010wyx.1_Missense_Mutation_p.D133E|DLGAP1_uc010wyy.1_Missense_Mutation_p.D133E|DLGAP1_uc002kmg.2_Missense_Mutation_p.D119E|DLGAP1_uc002kmk.2_Missense_Mutation_p.D421E NM_004746 NP_004737 O14490 DLGP1_HUMAN discs large homolog-associated protein 1 isoform 421 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane ovary(2)|pancreas(1)|skin(1) 4 Colorectal(8;0.0257) GGTCCAGGCTGTCCAGGCTCC 0.557 NA 4 8 5.18039e-06 5.66667e-06 0.00308 1 0 FAM38B 63895 broad.mit.edu 37 18 10671622 10671622 + Nonsense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr18:10671622C>A uc002kor.3 - 14 2172 c.2032G>T c.(2032-2034)GGA>TGA p.G678* FAM38B_uc002koq.2_Nonsense_Mutation_p.G513* NM_022068 NP_071351 Q9H5I5 PIEZ2_HUMAN family with sequence similarity 38, member B 2721 integral to membrane ion channel activity ovary(1) 1 TCCAGTTCTCCTGTCTCTCGA 0.363 NA 19 51 7.41877e-09 8.52338e-09 0.001882 1 0 FAM38B 63895 broad.mit.edu 37 18 10672688 10672688 + Missense_Mutation SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr18:10672688C>T uc002kor.3 - 13 2016 c.1876G>A c.(1876-1878)GGT>AGT p.G626S FAM38B_uc002koq.2_Missense_Mutation_p.G461S NM_022068 NP_071351 Q9H5I5 PIEZ2_HUMAN family with sequence similarity 38, member B 2669 Helical; (Potential). integral to membrane ion channel activity ovary(1) 1 AGTCCTTACCCATAGCCAGCC 0.438 NA 6 127 0 0 0.00308 0 0 FAM38B 63895 broad.mit.edu 37 18 10672706 10672706 + Missense_Mutation SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr18:10672706C>T uc002kor.3 - 13 1998 c.1858G>A c.(1858-1860)GGG>AGG p.G620R FAM38B_uc002koq.2_Missense_Mutation_p.G455R NM_022068 NP_071351 Q9H5I5 PIEZ2_HUMAN family with sequence similarity 38, member B 2663 Helical; (Potential). integral to membrane ion channel activity ovary(1) 1 GCCAGGAACCCCAGACTTGGG 0.463 NA 8 139 0 0 0.006214 0 0 ZNF519 162655 broad.mit.edu 37 18 14105896 14105896 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr18:14105896C>A uc002kst.1 - 3 796 c.643G>T c.(643-645)GGT>TGT p.G215C ZNF519_uc002ksq.1_Intron|ZNF519_uc002ksr.1_Intron|ZNF519_uc010dlm.1_Intron NM_145287 NP_660330 Q8TB69 ZN519_HUMAN zinc finger protein 519 215 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GAAGTTTCACCACATTCATTA 0.299 NA 38 86 3.37043e-27 4.78735e-27 0.00361 1 0 CDH2 1000 broad.mit.edu 37 18 25562988 25562988 + Nonsense_Mutation SNP G G A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr18:25562988G>A uc002kwg.2 - 14 2728 c.2269C>T c.(2269-2271)CAA>TAA p.Q757* CDH2_uc010xbn.1_Nonsense_Mutation_p.Q726* NM_001792 NP_001783 P19022 CADH2_HUMAN cadherin 2, type 1 preproprotein 757 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding ovary(3)|lung(1) 4 ATTAAAAGTTGTTTGGCCTGG 0.353 NA 42 143 0 0 0.00361 0 0 ASXL3 80816 broad.mit.edu 37 18 31325156 31325156 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr18:31325156C>A uc010dmg.1 + 12 5399 c.5344C>A c.(5344-5346)CTT>ATT p.L1782I ASXL3_uc002kxq.2_Missense_Mutation_p.L1489I NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 1782 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 TCCATTGCCTCTTCAAACTAC 0.507 NA 25 71 3.17567e-06 3.49385e-06 0.008361 1 0 CXXC1 30827 broad.mit.edu 37 18 47810186 47810186 + Splice_Site SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr18:47810186C>T uc002leq.3 - 11 2147 c.1414_splice c.e11-1 p.S472_splice MBD1_uc002leg.2_5'Flank|MBD1_uc010dow.1_5'Flank|MBD1_uc010xdi.1_5'Flank|MBD1_uc002leh.3_5'Flank|MBD1_uc002len.2_5'Flank|MBD1_uc002lei.3_5'Flank|MBD1_uc002lej.3_5'Flank|MBD1_uc002lek.3_5'Flank|MBD1_uc002lel.3_5'Flank|MBD1_uc002lem.3_5'Flank|MBD1_uc010xdj.1_5'Flank|MBD1_uc010xdk.1_5'Flank|MBD1_uc002leo.2_5'Flank|CXXC1_uc002lep.3_Splice_Site_p.S329_splice|CXXC1_uc002ler.3_Splice_Site_p.S476_splice|CXXC1_uc010doy.2_Splice_Site_p.S472_splice NM_014593 NP_055408 Q9P0U4 CXXC1_HUMAN CXXC finger 1 (PHD domain) isoform 2 histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|Set1C/COMPASS complex protein binding|unmethylated CpG binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 CCTCGTTGCTCTGCATGGAAT 0.577 NA 27 429 0 0 0.00361 0 0 TCF4 6925 broad.mit.edu 37 18 52896212 52896212 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr18:52896212C>A uc002lfz.2 - 18 2345 c.1733G>T c.(1732-1734)CGT>CTT p.R578L TCF4_uc002lfw.3_Missense_Mutation_p.R422L|TCF4_uc010xdu.1_Missense_Mutation_p.R448L|TCF4_uc010xdv.1_Missense_Mutation_p.R448L|TCF4_uc002lfx.2_Missense_Mutation_p.R511L|TCF4_uc010xdw.1_Missense_Mutation_p.R448L|TCF4_uc002lfy.2_Missense_Mutation_p.R536L|TCF4_uc010xdx.1_Missense_Mutation_p.R554L|TCF4_uc010dph.1_Missense_Mutation_p.R582L|TCF4_uc010xdy.1_Missense_Mutation_p.R558L|TCF4_uc002lga.2_Missense_Mutation_p.R684L|TCF4_uc002lgb.1_Missense_Mutation_p.R418L|TCF4_uc010dpi.2_Missense_Mutation_p.R588L|TCF4_uc002lfv.2_Missense_Mutation_p.R361L NM_003199 NP_003190 P15884 ITF2_HUMAN transcription factor 4 isoform b 578 Helix-loop-helix motif. positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter transcription factor complex E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding ovary(1)|lung(1) 2 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) GTTGATGTCACGGACCCGCAG 0.592 NA 109 168 1.95696e-54 3.28654e-54 0.00361 1 0 NEDD4L 23327 broad.mit.edu 37 18 56024480 56024480 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr18:56024480G>T uc002lgy.2 + 19 2037 c.1763G>T c.(1762-1764)GGT>GTT p.G588V NEDD4L_uc002lgz.2_Missense_Mutation_p.G524V|NEDD4L_uc002lgx.2_Missense_Mutation_p.G568V|NEDD4L_uc010xee.1_Missense_Mutation_p.G467V|NEDD4L_uc002lhc.2_Missense_Mutation_p.G580V|NEDD4L_uc002lhd.2_Missense_Mutation_p.G467V|NEDD4L_uc002lhb.2_Missense_Mutation_p.G447V|NEDD4L_uc002lhe.2_Missense_Mutation_p.G560V|NEDD4L_uc002lhf.2_Missense_Mutation_p.G447V|NEDD4L_uc002lhg.2_Missense_Mutation_p.G467V|NEDD4L_uc002lhh.2_Missense_Mutation_p.G363V|NEDD4L_uc010dpm.1_Missense_Mutation_p.G269V NM_001144967 NP_001138439 Q96PU5 NED4L_HUMAN neural precursor cell expressed, developmentally 588 cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity lung(4) 4 GCTATTACTGGTCCGGTCAGT 0.353 NA 68 174 1.91123e-38 2.99811e-38 0.00361 1 0 PIGN 23556 broad.mit.edu 37 18 59749964 59749964 + Missense_Mutation SNP C C G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr18:59749964C>G uc002lii.3 - 29 2966 c.2518G>C c.(2518-2520)GTT>CTT p.V840L PIGN_uc002lij.3_Missense_Mutation_p.V840L NM_176787 NP_789744 O95427 PIGN_HUMAN phosphatidylinositol glycan anchor biosynthesis, 840 Helical; (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphotransferase activity, for other substituted phosphate groups breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 5 Colorectal(73;0.187) ATAACAAGAACAAAGGGGATT 0.299 NA 10 13 0 0 0.001855 0 0 PHLPP1 23239 broad.mit.edu 37 18 60646229 60646229 + Silent SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr18:60646229G>T uc002lis.2 + 18 3361 c.3183G>T c.(3181-3183)CGG>CGT p.R1061R NM_194449 NP_919431 O60346 PHLP1_HUMAN PH domain and leucine rich repeat protein 1573 apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol|membrane|nucleus metal ion binding|protein serine/threonine phosphatase activity 0 ACTGCAGCCGGGCCAAGGAGA 0.617 NA 27 27 1.15183e-24 1.60806e-24 0.009718 1 0 SERPINB11 89778 broad.mit.edu 37 18 61387285 61387285 + Missense_Mutation SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr18:61387285C>T uc002ljk.3 + 7 576 c.514C>T c.(514-516)CCT>TCT p.P172S SERPINB11_uc010xes.1_5'UTR|SERPINB11_uc010dqd.2_Missense_Mutation_p.P58S|SERPINB11_uc002ljj.3_Missense_Mutation_p.P58S|SERPINB11_uc010dqe.2_Intron|SERPINB11_uc010dqf.2_Intron NM_080475 NP_536723 Q96P15 SPB11_HUMAN serpin peptidase inhibitor, clade B, member 11 172 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1) 1 Esophageal squamous(42;0.129) CACAATTGACCCTTCATCTGT 0.333 Ovarian(27;496 784 5942 8975 23930) NA 64 72 0 0 0.00361 0 0 ZADH2 284273 broad.mit.edu 37 18 72920923 72920923 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr18:72920923G>T uc002llx.2 - 1 359 c.91C>A c.(91-93)CAA>AAA p.Q31K TSHZ1_uc002lly.2_5'Flank NM_175907 NP_787103 Q8N4Q0 ZADH2_HUMAN zinc binding alcohol dehydrogenase domain 31 peroxisome oxidoreductase activity|zinc ion binding 0 Esophageal squamous(42;0.131)|Prostate(75;0.155) READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216) TGCATGGCTTGGGGAATGGCG 0.716 NA 3 5 0.00024832 0.000261606 0.009096 1 0 SHC2 25759 broad.mit.edu 37 19 436212 436212 + Silent SNP G G A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr19:436212G>A uc002loq.3 - 7 906 c.906C>T c.(904-906)TTC>TTT p.F302F SHC2_uc002lop.3_Silent_p.F43F NM_012435 NP_036567 P98077 SHC2_HUMAN SHC (Src homology 2 domain containing) 302 PID. insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol 0 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGTACTGCTTGAAGCGCAGCT 0.657 NA 4 4 0 0 0.009096 0 0 FEM1A 55527 broad.mit.edu 37 19 4793326 4793326 + Missense_Mutation SNP A A T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr19:4793326A>T uc002mbf.2 + 1 1599 c.1460A>T c.(1459-1461)GAC>GTC p.D487V uc002mbg.1_RNA NM_018708 NP_061178 Q9BSK4 FEM1A_HUMAN fem-1 homolog a 487 regulation of ubiquitin-protein ligase activity cytoplasm binding|ubiquitin-protein ligase activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) GAGCCCGGAGACTCAGCCCAG 0.642 NA 13 6 0 0 0.00245 0 0 MUC16 94025 broad.mit.edu 37 19 9074611 9074611 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr19:9074611G>T uc002mkp.2 - 3 13039 c.12835C>A c.(12835-12837)CAC>AAC p.H4279N NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 4281 Thr-rich.|Extracellular (Potential).|Ser-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CCCATGATGTGGGAGGTAACC 0.498 NA 214 80 1.3228e-122 2.38271e-122 0.00361 1 0 ZNF560 147741 broad.mit.edu 37 19 9578658 9578658 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr19:9578658C>A uc002mlp.1 - 10 1175 c.965G>T c.(964-966)TGG>TTG p.W322L ZNF560_uc010dwr.1_Missense_Mutation_p.W216L NM_152476 NP_689689 Q96MR9 ZN560_HUMAN zinc finger protein 560 322 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1) 6 ACATTGCTTCCATTCATTGAG 0.388 NA 80 33 6.64032e-35 1.0138e-34 0.00361 1 0 BRD4 23476 broad.mit.edu 37 19 15365073 15365073 + Missense_Mutation SNP G G A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr19:15365073G>A uc002nar.2 - 11 2270 c.2048C>T c.(2047-2049)GCT>GTT p.A683V BRD4_uc002nas.2_Missense_Mutation_p.A683V|BRD4_uc002nat.3_Missense_Mutation_p.A683V NM_058243 NP_490597 O60885 BRD4_HUMAN bromodomain-containing protein 4 isoform long 683 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) AACTTTCTCAGCTGCAATCCA 0.582 NA T NUT|C15orf55 lethal midline carcinoma of young people 23 9 0 0 0.00632 0 0 LOC284441 284441 broad.mit.edu 37 19 20370088 20370088 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr19:20370088G>T uc002nov.2 + 1 1632 c.881G>T c.(880-882)CGC>CTC p.R294L NR_003128 SubName: Full=cDNA FLJ51655, highly similar to Actin-like protein 2; 0 GACCCATCCCGCAGAAAGCAC 0.413 NA 5 35 0.000602214 0.000629788 0.000602 1 0 ZNF208 7757 broad.mit.edu 37 19 22155657 22155657 + Missense_Mutation SNP C C G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr19:22155657C>G uc002nqp.2 - 5 2028 c.1879G>C c.(1879-1881)GGC>CGC p.G627R ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) AAGCTTTTGCCACATTCTTCA 0.378 NA 45 124 0 0 0.00361 0 0 ZNF208 7757 broad.mit.edu 37 19 22157153 22157153 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr19:22157153G>T uc002nqp.2 - 4 832 c.683C>A c.(682-684)CCC>CAC p.P228H ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) ACATCTGTAGGGTTTCTCTCC 0.363 NA 62 67 9.12251e-31 1.32543e-30 0.00361 1 0 ZNF254 9534 broad.mit.edu 37 19 24309689 24309689 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr19:24309689G>T uc002nru.2 + 4 1021 c.887G>T c.(886-888)TGT>TTT p.C296F ZNF254_uc010xrk.1_Missense_Mutation_p.C211F NM_203282 NP_975011 O75437 ZN254_HUMAN zinc finger protein 254 296 C2H2-type 4. negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) CCTTACAAGTGTGAAGAATGT 0.363 NA 37 86 5.20006e-24 7.22442e-24 0.002852 1 0 LSM14A 26065 broad.mit.edu 37 19 34710724 34710724 + Missense_Mutation SNP A A T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr19:34710724A>T uc002nvb.3 + 8 1274 c.1078A>T c.(1078-1080)AAT>TAT p.N360Y LSM14A_uc002nva.3_Missense_Mutation_p.N360Y|LSM14A_uc010xru.1_Missense_Mutation_p.N319Y|LSM14A_uc002nvc.3_Missense_Mutation_p.N166Y NM_001114093 NP_001107565 Q8ND56 LS14A_HUMAN LSM14 homolog A isoform a 360 cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule skin(1) 1 Esophageal squamous(110;0.162) ACTTGGACCTAATTGCTATTA 0.348 NA 36 41 0 0 0.00874 0 0 RBM42 79171 broad.mit.edu 37 19 36120510 36120510 + Missense_Mutation SNP G G A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr19:36120510G>A uc002oan.2 + 2 293 c.217G>A c.(217-219)GAA>AAA p.E73K RBM42_uc010xsx.1_Missense_Mutation_p.E73K|RBM42_uc010eef.2_Missense_Mutation_p.E73K|RBM42_uc002oao.2_Missense_Mutation_p.E73K|RBM42_uc002oap.2_Missense_Mutation_p.E73K|RBM42_uc002oaq.2_Missense_Mutation_p.E73K|RBM42_uc010eeg.2_Missense_Mutation_p.E73K NM_024321 NP_077297 Q9BTD8 RBM42_HUMAN RNA binding motif protein 42 73 cytoplasm|nucleus nucleotide binding|RNA binding 0 all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CCCCACAGTAGAAGCGATGCA 0.587 NA 7 89 0 0 0.004482 0 0 ZNF585B 92285 broad.mit.edu 37 19 37676497 37676497 + Missense_Mutation SNP T T A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr19:37676497T>A uc002ofq.2 - 5 2196 c.1942A>T c.(1942-1944)AAT>TAT p.N648Y uc002ofp.1_5'Flank|ZNF585B_uc002ofr.1_Missense_Mutation_p.N462Y NM_152279 NP_689492 Q52M93 Z585B_HUMAN zinc finger protein 585B 648 C2H2-type 17. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(1) 1 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTACTGAGATTTGACCTGCCA 0.473 Melanoma(93;882 1454 18863 28917 48427) NA 18 25 0 0 0.002096 0 0 PSMD8 5714 broad.mit.edu 37 19 38873891 38873891 + Splice_Site SNP A A T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr19:38873891A>T uc002oii.3 + 7 968 c.916_splice c.e7-2 p.R306_splice NM_002812 NP_002803 P48556 PSMD8_HUMAN proteasome 26S non-ATPase subunit 8 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome regulatory particle protein binding central_nervous_system(1) 1 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) CCTTTCCTGCAGCGAGGGTGG 0.562 NA 7 11 0 0 0.006214 0 0 FAM98C 147965 broad.mit.edu 37 19 38896205 38896205 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr19:38896205G>T uc002oin.1 + 6 699 c.680G>T c.(679-681)TGC>TTC p.C227F FAM98C_uc002oio.1_Missense_Mutation_p.C201F|FAM98C_uc010xtz.1_Intron NM_174905 NP_777565 Q17RN3 FA98C_HUMAN hypothetical protein LOC147965 227 skin(1) 1 all_cancers(60;3.95e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) CAGTACCGCTGCCGCCGCTGC 0.597 NA 10 14 1.58986e-06 1.76274e-06 0.008291 1 0 RYR1 6261 broad.mit.edu 37 19 38983214 38983214 + Missense_Mutation SNP G G T rs139775280 TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr19:38983214G>T uc002oit.2 + 38 6342 c.6212G>T c.(6211-6213)CGG>CTG p.R2071L RYR1_uc002oiu.2_Missense_Mutation_p.R2071L NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 2071 Cytoplasmic.|6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GAGAAAGTGCGGCTGGTGAAG 0.592 NA 8 10 6.72482e-11 7.96654e-11 0.003163 1 0 ZNF526 116115 broad.mit.edu 37 19 42729117 42729117 + Missense_Mutation SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr19:42729117C>T uc002osz.1 + 3 718 c.562C>T c.(562-564)CCC>TCC p.P188S NM_133444 NP_597701 Q8TF50 ZN526_HUMAN zinc finger protein 526 188 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0704) TCCACCTTCTCCCCCATCCGA 0.597 NA 63 96 0 0 0.00361 0 0 CLPTM1 1209 broad.mit.edu 37 19 45495879 45495879 + Silent SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr19:45495879C>T uc002pai.2 + 14 1749 c.1734C>T c.(1732-1734)TTC>TTT p.F578F CLPTM1_uc010xxf.1_Silent_p.F476F|CLPTM1_uc010xxg.1_Silent_p.F564F NM_001294 NP_001285 O96005 CLPT1_HUMAN cleft lip and palate associated transmembrane 578 Cytoplasmic (Potential). cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus external side of plasma membrane|integral to plasma membrane ovary(1) 1 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187) ATGTGGTTTTCTTCATCTACC 0.647 NA 11 36 0 0 0.00245 0 0 EML2 24139 broad.mit.edu 37 19 46116800 46116800 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr19:46116800C>A uc002pcn.2 - 18 1858 c.1823G>T c.(1822-1824)CGA>CTA p.R608L EML2_uc002pco.2_RNA|EML2_uc002pcp.2_Missense_Mutation_p.R492L|EML2_uc010xxl.1_Missense_Mutation_p.R755L|EML2_uc010xxm.1_Missense_Mutation_p.R809L NM_012155 NP_036287 O95834 EMAL2_HUMAN echinoderm microtubule associated protein like 608 WD 10. sensory perception of sound|visual perception cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex catalytic activity|protein binding large_intestine(1)|ovary(1) 2 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197) GGGACTCACTCGAGGCTGACA 0.473 NA 46 68 5.86059e-21 7.94868e-21 0.00361 1 0 TRPM4 54795 broad.mit.edu 37 19 49691969 49691969 + Silent SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr19:49691969C>T uc002pmw.2 + 13 1887 c.1815C>T c.(1813-1815)GAC>GAT p.D605D TRPM4_uc010emu.2_Silent_p.D605D|TRPM4_uc010yak.1_Silent_p.D69D|TRPM4_uc002pmx.2_Silent_p.D431D|TRPM4_uc010emv.2_Silent_p.D490D|TRPM4_uc010yal.1_Silent_p.D251D|TRPM4_uc002pmy.2_Translation_Start_Site NM_017636 NP_060106 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, 605 Cytoplasmic (Potential). dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding ovary(1)|central_nervous_system(1) 2 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) TGGAGCCTGACGCTGAGGAGG 0.642 NA 14 38 0 0 0.001882 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50462124 50462124 + Missense_Mutation SNP G G C rs149136670 byFrequency TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr19:50462124G>C uc010ybh.1 - 7 1230 c.1139C>G c.(1138-1140)CCG>CGG p.P380R SIGLEC11_uc010ybi.1_Missense_Mutation_p.P380R NM_052884 NP_443116 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 isoform 1 380 Ig-like C2-type 3.|Extracellular (Potential). cell adhesion integral to membrane sugar binding ovary(3)|central_nervous_system(2)|pancreas(1) 6 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) CTCCAGGACCGGGAGGGATGT 0.672 NA 11 21 0 0 0.00499 0 0 NR1H2 7376 broad.mit.edu 37 19 50885781 50885781 + Silent SNP G G A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr19:50885781G>A uc010enw.2 + 11 1584 c.1308G>A c.(1306-1308)TCG>TCA p.S436S NR1H2_uc002prv.3_RNA|NR1H2_uc002prz.3_Silent_p.S391S|NR1H2_uc002psa.3_Silent_p.S338S|POLD1_uc002psb.3_5'Flank|POLD1_uc002psc.3_5'Flank|POLD1_uc010enx.2_5'Flank NM_007121 NP_009052 P55055 NR1H2_HUMAN nuclear receptor subfamily 1, group H, member 2 435 Ligand-binding (Potential). negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding 0 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) CTGTGCACTCGGAGCAGGTCT 0.672 NA 3 5 0 0 0.000602 0 0 MYBPC2 4606 broad.mit.edu 37 19 50957609 50957609 + Missense_Mutation SNP G G A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr19:50957609G>A uc002psf.2 + 18 2048 c.1997G>A c.(1996-1998)GGG>GAG p.G666E NM_004533 NP_004524 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 666 Fibronectin type-III 1. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) ATGTACGATGGGGGGAAGCCA 0.507 NA 40 58 0 0 0.00361 0 0 C19orf75 284369 broad.mit.edu 37 19 51770634 51770634 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr19:51770634C>A uc002pwb.1 + 5 799 c.418C>A c.(418-420)CAT>AAT p.H140N C19orf75_uc010eov.1_RNA|C19orf75_uc010ycw.1_Missense_Mutation_p.H46N NM_173635 NP_775906 Q8N7X8 CS075_HUMAN hypothetical protein LOC284369 140 integral to membrane ovary(1)|pancreas(1) 2 TAGAGTGAAACATATCAGAAA 0.453 NA 81 244 1.36798e-35 2.12259e-35 0.00361 1 0 ZNF610 162963 broad.mit.edu 37 19 52869019 52869019 + Nonsense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr19:52869019G>T uc002pyx.3 + 6 794 c.388G>T c.(388-390)GAG>TAG p.E130* ZNF610_uc002pyy.3_Nonsense_Mutation_p.E130*|ZNF610_uc002pyz.3_Nonsense_Mutation_p.E87*|ZNF610_uc002pza.2_Nonsense_Mutation_p.E130* NM_001161426 NP_001154898 Q8N9Z0 ZN610_HUMAN zinc finger protein 610 isoform a 130 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434) ATTAACCCTTGAGGCACATCT 0.398 NA 77 134 3.11363e-52 5.16826e-52 0.00361 1 0 NLRP12 91662 broad.mit.edu 37 19 54314478 54314478 + Silent SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr19:54314478C>A uc002qch.3 - 3 655 c.435G>T c.(433-435)GCG>GCT p.A145A NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Silent_p.A145A|NLRP12_uc002qcj.3_Silent_p.A145A|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Silent_p.A145A NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 145 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) CCCCTAGGCGCGCATTGCGGT 0.567 NA 30 67 2.6416e-12 3.22298e-12 0.00623 1 0 KIR3DL1 3811 broad.mit.edu 37 19 55378056 55378056 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr19:55378056G>T uc002qhl.3 + 9 1301 c.1238G>T c.(1237-1239)CGC>CTC p.R413L KIR3DL2_uc010esh.2_Missense_Mutation_p.R396L|KIR3DL2_uc002qho.3_Missense_Mutation_p.R413L P43629 KI3L1_HUMAN SubName: Full=KIR3DS1; 413 Cytoplasmic (Potential). immune response|regulation of immune response integral to plasma membrane HLA-B specific inhibitory MHC class I receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1) 5 GBM - Glioblastoma multiforme(193;0.0192) AAAATCAGTCGCCCTTCTCAG 0.517 NA 312 499 7.70712e-192 1.4242e-191 0.00361 1 0 NLRP4 147945 broad.mit.edu 37 19 56392837 56392837 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr19:56392837C>A uc002qmd.3 + 10 3291 c.2869C>A c.(2869-2871)CTG>ATG p.L957M NLRP4_uc002qmf.2_Missense_Mutation_p.L882M|NLRP4_uc010etf.2_Missense_Mutation_p.L732M NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 957 LRR 8. L -> P (in Ref. 4; AAL88672). ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) TTTTACCAGGCTGAGAAAAAC 0.418 NA 13 18 1.67942e-08 1.91789e-08 0.006122 1 0 SNTG2 54221 broad.mit.edu 37 2 1168851 1168851 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr2:1168851C>A uc002qwq.2 + 8 701 c.573C>A c.(571-573)AAC>AAA p.N191K SNTG2_uc010ewi.2_Intron NM_018968 NP_061841 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 191 central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding p.N191K(1) ovary(1)|large_intestine(1)|breast(1) 3 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) TGCATCTGAACGGAAACTCCA 0.448 NA 161 338 4.95515e-46 8.01526e-46 0.00361 1 0 PXDN 7837 broad.mit.edu 37 2 1652268 1652268 + Missense_Mutation SNP T T A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr2:1652268T>A uc002qxa.2 - 17 3348 c.3284A>T c.(3283-3285)CAC>CTC p.H1095L NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 1095 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) AAGGGGGAGGTGATCTTGTGC 0.582 NA 6 10 0 0 0.00308 0 0 TTC15 51112 broad.mit.edu 37 2 3405596 3405596 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr2:3405596G>T uc002qxm.1 + 3 1302 c.1096G>T c.(1096-1098)GCA>TCA p.A366S TTC15_uc002qxn.1_Missense_Mutation_p.A366S|TTC15_uc010ewm.1_Missense_Mutation_p.A366S NM_016030 NP_057114 Q8WVT3 TTC15_HUMAN tetratricopeptide repeat domain 15 366 binding ovary(2)|breast(1)|pancreas(1) 4 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) all_cancers(51;0.214) OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149) TGAAAAAGCTGCAGCAAAGAG 0.378 NA 67 125 3.20846e-33 4.78338e-33 0.00361 1 0 ASAP2 8853 broad.mit.edu 37 2 9525405 9525405 + Missense_Mutation SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr2:9525405C>T uc002qzh.2 + 21 2388 c.2048C>T c.(2047-2049)TCT>TTT p.S683F ASAP2_uc002qzi.2_Missense_Mutation_p.S683F NM_003887 NP_003878 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH 683 regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding 0 AGATTTAATTCTCACGTTCAC 0.483 NA 8 174 0 0 0.008291 0 0 APOB 338 broad.mit.edu 37 2 21224784 21224784 + Missense_Mutation SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr2:21224784C>T uc002red.2 - 29 13638 c.13510G>A c.(13510-13512)GAC>AAC p.D4504N NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 4504 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GAGAGTTGGTCTGAAAAATCT 0.358 NA 18 49 0 0 0.007413 0 0 TMEM214 54867 broad.mit.edu 37 2 27262916 27262916 + Silent SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr2:27262916G>T uc002ria.3 + 15 1751 c.1641G>T c.(1639-1641)CTG>CTT p.L547L TMEM214_uc010yle.1_RNA|TMEM214_uc002rib.3_Silent_p.L502L NM_017727 NP_060197 Q6NUQ4 TM214_HUMAN transmembrane protein 214 isoform 1 547 integral to membrane protein binding 0 GGGAGACACTGCCGCTCTGGG 0.627 NA 6 13 5.50884e-06 6.00295e-06 0.001368 1 0 XDH 7498 broad.mit.edu 37 2 31570447 31570447 + Missense_Mutation SNP G G C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr2:31570447G>C uc002rnv.1 - 29 3296 c.3217C>G c.(3217-3219)CCC>GCC p.P1073A NM_000379 NP_000370 P47989 XDH_HUMAN xanthine dehydrogenase 1073 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity skin(4)|breast(2)|ovary(1)|central_nervous_system(1) 8 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) GAGGTGTTGGGCACAGTGTTA 0.562 Colon(66;682 1445 30109 40147) NA 34 58 0 0 0.00361 0 0 THUMPD2 80745 broad.mit.edu 37 2 39997215 39997215 + Nonsense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr2:39997215C>A uc002rru.2 - 3 344 c.307G>T c.(307-309)GGA>TGA p.G103* THUMPD2_uc002rrv.2_RNA|THUMPD2_uc010ynt.1_Nonsense_Mutation_p.G10*|THUMPD2_uc010ynu.1_Nonsense_Mutation_p.G103* NM_025264 NP_079540 Q9BTF0 THUM2_HUMAN THUMP domain containing 2 103 methyltransferase activity skin(1) 1 all_hematologic(82;0.248) AACCAACTTCCTGGATCTTCA 0.289 NA 6 18 0.00448238 0.00463667 0.004482 1 0 SLC8A1 6546 broad.mit.edu 37 2 40656621 40656621 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr2:40656621C>A uc002rrx.2 - 1 824 c.800G>T c.(799-801)CGA>CTA p.R267L SLC8A1_uc002rry.2_Missense_Mutation_p.R267L|SLC8A1_uc002rrz.2_Missense_Mutation_p.R267L|SLC8A1_uc002rsa.2_Missense_Mutation_p.R267L|SLC8A1_uc002rsd.3_Missense_Mutation_p.R267L|SLC8A1_uc002rsb.1_Missense_Mutation_p.R267L|SLC8A1_uc010fan.1_Missense_Mutation_p.R267L|SLC8A1_uc002rsc.1_Missense_Mutation_p.R267L NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 267 Calmodulin-binding (Potential).|Cytoplasmic (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding p.R267L(1) ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) CTTGCCAGCTCGATACCTCTT 0.433 NA 76 181 8.92586e-32 1.31357e-31 0.00361 1 0 FSHR 2492 broad.mit.edu 37 2 49190064 49190064 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr2:49190064G>T uc002rww.2 - 10 1970 c.1896C>A c.(1894-1896)AAC>AAA p.N632K FSHR_uc002rwx.2_Missense_Mutation_p.N570K|FSHR_uc010fbn.2_Missense_Mutation_p.N606K NM_000145 NP_000136 P23945 FSHR_HUMAN follicle stimulating hormone receptor isoform 1 632 Cytoplasmic (Potential). female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding p.N632K(1) ovary(4)|lung(2)|central_nervous_system(1)|skin(1) 8 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) CTCTGCGAAAGTTTTTGGTAA 0.463 NA Gonadal_Dysgenesis_46_XX 34 76 2.32173e-10 2.7278e-10 0.004878 1 0 VRK2 7444 broad.mit.edu 37 2 58350345 58350345 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr2:58350345G>T uc002rzo.2 + 11 1398 c.653G>T c.(652-654)AGC>ATC p.S218I VRK2_uc010fcb.2_Missense_Mutation_p.S218I|VRK2_uc002rzs.2_Missense_Mutation_p.S218I|VRK2_uc002rzr.2_Missense_Mutation_p.S218I|VRK2_uc010fcc.2_Missense_Mutation_p.S100I|VRK2_uc002rzv.2_Missense_Mutation_p.S218I|VRK2_uc010fcd.2_Missense_Mutation_p.S195I|VRK2_uc002rzp.2_Missense_Mutation_p.S218I|VRK2_uc010ypg.1_Missense_Mutation_p.S218I|VRK2_uc002rzq.2_Missense_Mutation_p.S218I|VRK2_uc002rzu.2_Missense_Mutation_p.S218I|VRK2_uc002rzt.2_Missense_Mutation_p.S100I|VRK2_uc010yph.1_Missense_Mutation_p.S100I NM_001130482 NP_001123954 Q86Y07 VRK2_HUMAN vaccinia related kinase 2 isoform 2 218 Protein kinase. integral to membrane ATP binding|protein binding|protein serine/threonine kinase activity ovary(1) 1 GAGTTTACCAGCTTGGATGCC 0.388 NA 66 124 3.83446e-41 6.13298e-41 0.00361 1 0 ETAA1 54465 broad.mit.edu 37 2 67630052 67630052 + Missense_Mutation SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr2:67630052C>T uc002sdz.1 + 4 627 c.488C>T c.(487-489)CCT>CTT p.P163L NM_019002 NP_061875 Q9NY74 ETAA1_HUMAN ETAA16 protein 163 cytoplasm|nucleus ovary(3)|large_intestine(1) 4 ACTGCTATTCCTTGTACTCCC 0.368 NA 40 69 0 0 0.00361 0 0 HTRA2 27429 broad.mit.edu 37 2 74759976 74759976 + Nonsense_Mutation SNP T T A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr2:74759976T>A uc002smi.1 + 8 1843 c.1241T>A c.(1240-1242)TTG>TAG p.L414* HTRA2_uc002smj.1_Nonsense_Mutation_p.L317*|HTRA2_uc002smk.1_Nonsense_Mutation_p.L392*|HTRA2_uc002sml.1_Nonsense_Mutation_p.L382*|HTRA2_uc002smm.1_Nonsense_Mutation_p.L155*|HTRA2_uc002smn.1_Nonsense_Mutation_p.L155*|LOXL3_uc002smo.1_3'UTR|LOXL3_uc010ffm.1_3'UTR|LOXL3_uc002smp.1_3'UTR|LOXL3_uc002smq.1_3'UTR NM_013247 NP_037379 O43464 HTRA2_HUMAN HtrA serine peptidase 2 isoform 1 preproprotein 414 PDZ. apoptosis|proteolysis|response to stress CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus serine-type endopeptidase activity|unfolded protein binding ovary(1) 1 GATGTGATTTTGGCCATTGGG 0.498 NA 101 156 0 0 0.00361 0 0 CREG2 200407 broad.mit.edu 37 2 101967438 101967438 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr2:101967438C>A uc002tba.2 - 4 866 c.820G>T c.(820-822)GCA>TCA p.A274S NM_153836 NP_722578 Q8IUH2 CREG2_HUMAN cellular repressor of E1A-stimulated genes 2 274 extracellular region FMN binding ovary(1) 1 ATACTGGATGCGCCTCCATAC 0.443 NA 41 83 1.06522e-23 1.47631e-23 0.003214 1 0 PROC 5624 broad.mit.edu 37 2 128186390 128186390 + Silent SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr2:128186390C>T uc002tok.2 + 9 1327 c.1254C>T c.(1252-1254)GGC>GGT p.G418G PROC_uc002tol.2_Silent_p.G439G|PROC_uc010yzi.1_Silent_p.G474G|PROC_uc010yzj.1_Silent_p.G313G|PROC_uc010yzk.1_Silent_p.G473G|PROC_uc002tom.2_Silent_p.G452G NM_000312 NP_000303 P04070 PROC_HUMAN protein C 418 Peptidase S1. G -> D (in ARPROCD; Hong Kong-2). blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|protein binding|serine-type endopeptidase activity 0 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0673) Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464) TCCTGGTGGGCCTGGTGAGCT 0.647 NA 13 18 0 0 0.004007 0 0 POTEF 728378 broad.mit.edu 37 2 130832708 130832708 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr2:130832708C>A uc010fmh.2 - 17 2737 c.2337G>T c.(2335-2337)TGG>TGT p.W779C NM_001099771 NP_001093241 A5A3E0 POTEF_HUMAN prostate, ovary, testis expressed protein on 779 Actin-like. cell cortex ATP binding skin(3)|ovary(2) 5 CCATGTCATCCCAGTTGGTGA 0.577 NA 42 77 1.22102e-19 1.6214e-19 0.00361 1 0 NCKAP5 344148 broad.mit.edu 37 2 133541594 133541594 + Silent SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr2:133541594C>A uc002ttp.2 - 14 3164 c.2790G>T c.(2788-2790)CCG>CCT p.P930P NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 930 Poly-Pro. protein binding 0 CTGGAGGGGGCGGAGGGGAAG 0.622 NA 6 9 3.09899e-07 3.46965e-07 0.004482 1 0 LRP1B 53353 broad.mit.edu 37 2 141116451 141116451 + Silent SNP C C T rs138052993 byFrequency TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr2:141116451C>T uc002tvj.1 - 73 12168 c.11196G>A c.(11194-11196)TCG>TCA p.S3732S NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3732 Extracellular (Potential).|LDL-receptor class A 31. 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) ACATTTGCTCCGACTGTAGGC 0.383 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 13 406 0 0 0.003163 0 0 PLA2R1 22925 broad.mit.edu 37 2 160901382 160901382 + Silent SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr2:160901382C>A uc002ube.1 - 2 603 c.396G>T c.(394-396)GTG>GTT p.V132V PLA2R1_uc010zcp.1_Silent_p.V132V|PLA2R1_uc002ubf.2_Silent_p.V132V NM_007366 NP_031392 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1 isoform 1 precursor 132 Extracellular (Potential).|Ricin B-type lectin. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding skin(2)|ovary(1) 3 TGTCATGCGCCACCTGGACAG 0.478 NA 108 153 2.93447e-47 4.78738e-47 0.00361 1 0 FAP 2191 broad.mit.edu 37 2 163082062 163082062 + Silent SNP T T A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr2:163082062T>A uc002ucd.2 - 4 424 c.216A>T c.(214-216)GCA>GCT p.A72A FAP_uc010zct.1_Silent_p.A72A|FAP_uc010fpd.2_Intron|FAP_uc010fpe.1_Silent_p.A39A NM_004460 NP_004451 Q12884 SEPR_HUMAN fibroblast activation protein, alpha subunit 72 Extracellular (Potential). endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity ovary(3) 3 TATTGTTATCTGCAGATTGAT 0.303 NA 29 49 0 0 0.003755 0 0 FIGN 55137 broad.mit.edu 37 2 164468190 164468190 + Missense_Mutation SNP T T A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr2:164468190T>A uc002uck.1 - 3 463 c.152A>T c.(151-153)CAG>CTG p.Q51L NM_018086 NP_060556 Q5HY92 FIGN_HUMAN fidgetin 51 nuclear matrix ATP binding|nucleoside-triphosphatase activity large_intestine(2)|ovary(1)|skin(1) 4 CCAGGCGTACTGATAGGTGCG 0.502 NA 181 342 0 0 0.00361 0 0 XIRP2 129446 broad.mit.edu 37 2 168101224 168101224 + Nonsense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr2:168101224G>T uc002udx.2 + 8 3340 c.3322G>T c.(3322-3324)GAA>TAA p.E1108* XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Nonsense_Mutation_p.E933*|XIRP2_uc010fpq.2_Nonsense_Mutation_p.E886*|XIRP2_uc010fpr.2_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 933 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 GTCTCTTTATGAAAAAGTTTC 0.363 NA 16 39 4.63292e-17 5.97156e-17 0.008871 1 0 C2orf77 129881 broad.mit.edu 37 2 170518803 170518803 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr2:170518803C>A uc002ufe.2 - 5 900 c.806G>T c.(805-807)AGG>ATG p.R269M NM_001085447 NP_001078916 Q0VFZ6 CB077_HUMAN hypothetical protein LOC129881 269 Potential. 0 AAACCGTCTCCTGCTTTCATG 0.289 NA 251 372 1.68934e-126 3.05257e-126 0.00361 1 0 HOXD11 3237 broad.mit.edu 37 2 176973838 176973838 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr2:176973838C>A uc002uki.2 + 2 985 c.985C>A c.(985-987)CTG>ATG p.L329M HOXD11_uc010fqx.2_RNA NM_021192 NP_067015 P31277 HXD11_HUMAN homeobox D11 329 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678) CAGAGACCGTCTGCAGTATTT 0.532 NA T NUP98 AML 54 71 1.55088e-19 2.0499e-19 0.00361 1 0 PTH2R 5746 broad.mit.edu 37 2 209302298 209302298 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr2:209302298G>T uc002vdb.2 + 3 428 c.215G>T c.(214-216)TGT>TTT p.C72F PTH2R_uc010zjb.1_Missense_Mutation_p.C83F NM_005048 NP_005039 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor precursor 72 Extracellular (Potential). integral to plasma membrane parathyroid hormone receptor activity ovary(1)|breast(1)|skin(1) 3 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) GGACTCATTTGTTGGCCCAGA 0.333 NA 24 42 3.90053e-15 4.90573e-15 0.002445 1 0 SPHKAP 80309 broad.mit.edu 37 2 228884540 228884540 + Missense_Mutation SNP C C G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr2:228884540C>G uc002vpq.2 - 7 1077 c.1030G>C c.(1030-1032)GCT>CCT p.A344P SPHKAP_uc002vpp.2_Missense_Mutation_p.A344P|SPHKAP_uc010zlx.1_Missense_Mutation_p.A344P NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 344 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) GAGAAATAAGCATCTTTTGGA 0.423 NA 30 105 0 0 0.002096 0 0 PER2 8864 broad.mit.edu 37 2 239157728 239157729 + Missense_Mutation DNP CC CC AA TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr2:239157728_239157729CC>AA uc002vyc.2 - 22 3829_3830 c.3592_3593GG>TT c.(3592-3594)GGC>TTC p.G1198F PER2_uc010znv.1_Missense_Mutation_p.G1198F NM_022817 NP_073728 O15055 PER2_HUMAN period 2 1198 CRY binding domain (By similarity). circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity upper_aerodigestive_tract(1)|breast(1) 2 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) TGCGGGCAGGCCGCCCGTCTGC 0.515 NA 18 57 0 0 0.004672 0 0 CPXM1 56265 broad.mit.edu 37 20 2775235 2775235 + Silent SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr20:2775235C>T uc002wgu.2 - 13 1975 c.1911G>A c.(1909-1911)GGG>GGA p.G637G CPXM1_uc010gas.2_Silent_p.G563G NM_019609 NP_062555 Q96SM3 CPXM1_HUMAN carboxypeptidase X, member 1 precursor 637 cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding p.G637E(1) ovary(2)|skin(2) 4 CGTCAGCAATCCCAAGCTCCG 0.468 NA 9 104 0 0 0.000978 0 0 PAX1 5075 broad.mit.edu 37 20 21695388 21695388 + Missense_Mutation SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr20:21695388C>T uc002wsj.2 + 5 1606 c.1552C>T c.(1552-1554)CCA>TCA p.P518S PAX1_uc010zsl.1_3'UTR|PAX1_uc010zsm.1_3'UTR NM_006192 NP_006183 P15863 PAX1_HUMAN paired box 1 518 regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding upper_aerodigestive_tract(1)|kidney(1) 2 GCCGGACCCACCACACTTCCT 0.637 NA 7 14 0 0 0.001984 0 0 GZF1 64412 broad.mit.edu 37 20 23345114 23345114 + Missense_Mutation SNP G G A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr20:23345114G>A uc010gdb.2 + 3 268 c.94G>A c.(94-96)GAC>AAC p.D32N GZF1_uc002wsy.2_Missense_Mutation_p.D32N|GZF1_uc010zsq.1_Intron|GZF1_uc010zsr.1_Intron|GZF1_uc002wsz.2_Missense_Mutation_p.D32N NM_022482 NP_071927 Q9H116 GZF1_HUMAN GDNF-inducible zinc finger protein 1 32 BTB. D->N: Decreased repression activity. transcription, DNA-dependent nucleolus|nucleoplasm sequence-specific DNA binding|zinc ion binding kidney(1) 1 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) TCACCTGTGTGACGTGACAGT 0.517 NA 4 39 0 0 0.001168 0 0 C20orf191 149934 broad.mit.edu 37 20 26084304 26084304 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr20:26084304G>T uc002wvj.3 - 2 167 c.112C>A c.(112-114)CCA>ACA p.P38T NR_003678 SubName: Full=Putative uncharacterized protein ENSP00000323172; 0 CCAAATGCTGGATCCTTTAGA 0.393 NA 15 100 2.48551e-13 3.07858e-13 0.00499 1 0 CASS4 57091 broad.mit.edu 37 20 55012236 55012236 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr20:55012236C>A uc002xxp.2 + 3 278 c.53C>A c.(52-54)GCA>GAA p.A18E CASS4_uc002xxq.3_Missense_Mutation_p.A18E|CASS4_uc002xxr.2_Missense_Mutation_p.A18E|CASS4_uc010zze.1_Missense_Mutation_p.A18E|CASS4_uc010gio.2_Missense_Mutation_p.A18E NM_001164116 NP_001157588 Q9NQ75 CASS4_HUMAN HEF-like protein isoform a 18 SH3. cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity ovary(2)|skin(1) 3 CTGGCCAGGGCACTTTATGAC 0.557 NA 83 130 7.4264e-54 1.23629e-53 0.00361 1 0 Unknown 0 broad.mit.edu 37 20 56063476 56063476 + Missense_Mutation SNP T T A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr20:56063476T>A uc010zzl.1 - 1 608 c.608A>T c.(607-609)GAA>GTA p.E203V NM_001008735 NP_001008735 high-mobility group box 1-like 1 NA ttcttcatcttcttcatcttc 0.219 NA 20 33 0 0 0.001882 0 0 TPTE 7179 broad.mit.edu 37 21 10920156 10920156 + Silent SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr21:10920156C>A uc002yip.1 - 19 1466 c.1098G>T c.(1096-1098)CTG>CTT p.L366L TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Silent_p.L348L|TPTE_uc002yir.1_Silent_p.L328L|TPTE_uc010gkv.1_Silent_p.L228L NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 366 Phosphatase tensin-type. 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) CAAAATAATACAGGCTTTCCT 0.383 NA 12 259 2.23348e-06 2.46201e-06 0.004007 1 0 TMPRSS15 5651 broad.mit.edu 37 21 19687505 19687505 + Missense_Mutation SNP C C A rs139992374 TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr21:19687505C>A uc002ykw.2 - 17 2021 c.1990G>T c.(1990-1992)GGT>TGT p.G664C NM_002772 NP_002763 P98073 ENTK_HUMAN enterokinase precursor 664 Extracellular (Potential).|LDL-receptor class A 2. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 8 TGCAGATGACCGTCACAGAGA 0.398 NA 128 232 6.32167e-57 1.07751e-56 0.00361 1 0 ADAMTS1 9510 broad.mit.edu 37 21 28212677 28212677 + Nonsense_Mutation SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr21:28212677C>T uc002ymf.2 - 5 2038 c.1583G>A c.(1582-1584)TGG>TAG p.W528* NM_006988 NP_008919 Q9UHI8 ATS1_HUMAN ADAM metallopeptidase with thrombospondin type 1 528 Disintegrin. integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis heparin binding|zinc ion binding lung(3)|large_intestine(2)|central_nervous_system(1) 6 Breast(209;0.000962) Lung(58;0.215) GCCATCCGCCCACGGGAAGTG 0.522 NA 58 53 0 0 0.00361 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28302275 28302275 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr21:28302275C>A uc002ymg.2 - 7 2884 c.2155G>T c.(2155-2157)GAC>TAC p.D719Y NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 719 Cys-rich. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 CCGCACTTGTCATACTGCAGC 0.458 Esophageal Squamous(53;683 1080 10100 14424 45938) NA 78 443 2.70612e-23 3.73235e-23 0.00361 1 0 ADAMTS5 11096 broad.mit.edu 37 21 28304454 28304454 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr21:28304454G>T uc002ymg.2 - 6 2647 c.1918C>A c.(1918-1920)CAG>AAG p.Q640K NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 640 Cys-rich. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 GCATCAGACTGATAGCCATTT 0.418 Esophageal Squamous(53;683 1080 10100 14424 45938) NA 20 189 6.21321e-17 7.97246e-17 0.00278 1 0 N6AMT1 29104 broad.mit.edu 37 21 30252218 30252218 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr21:30252218G>T uc002ymo.1 - 4 396 c.370C>A c.(370-372)CCC>ACC p.P124T N6AMT1_uc002ymp.1_Intron|N6AMT1_uc002ymq.1_RNA NM_013240 NP_037372 Q9Y5N5 HEMK2_HUMAN N-6 adenine-specific DNA methyltransferase 1 124 Substrate binding (By similarity). positive regulation of cell growth protein complex nucleic acid binding|protein binding|protein methyltransferase activity 0 ACTACATAGGGGGGATTAAAC 0.303 NA 37 202 6.08268e-21 8.23036e-21 0.00361 1 0 CLDN8 9073 broad.mit.edu 37 21 31588059 31588059 + Missense_Mutation SNP A A T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr21:31588059A>T uc002ynu.1 - 1 260 c.185T>A c.(184-186)ATG>AAG p.M62K NM_199328 NP_955360 P56748 CLD8_HUMAN claudin 8 62 Extracellular (Potential). calcium-independent cell-cell adhesion endoplasmic reticulum|integral to membrane|tight junction identical protein binding|structural molecule activity 0 TTTGCACTGCATCCTGATGTT 0.498 NA 33 186 0 0 0.00361 0 0 ITSN1 6453 broad.mit.edu 37 21 35124178 35124178 + Missense_Mutation SNP A A C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr21:35124178A>C uc002yta.1 + 7 858 c.590A>C c.(589-591)AAA>ACA p.K197T DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Missense_Mutation_p.K197T|ITSN1_uc010gmg.2_Missense_Mutation_p.K160T|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Missense_Mutation_p.K197T|ITSN1_uc010gmi.2_Missense_Mutation_p.K160T|ITSN1_uc010gmj.2_Missense_Mutation_p.K81T|ITSN1_uc002ysy.2_Missense_Mutation_p.K197T|ITSN1_uc002ysx.2_Missense_Mutation_p.K160T|ITSN1_uc002ytb.1_Missense_Mutation_p.K197T|ITSN1_uc002ytc.1_Missense_Mutation_p.K197T|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Missense_Mutation_p.K160T|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Missense_Mutation_p.K197T|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Missense_Mutation_p.K131T NM_003024 NP_003015 Q15811 ITSN1_HUMAN intersectin 1 isoform ITSN-l 197 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity ovary(3)|skin(1) 4 CTAAACACTAAATTACAAAAG 0.338 NA 104 76 0 0 0.00361 0 0 KRTAP10-9 386676 broad.mit.edu 37 21 46047579 46047579 + Missense_Mutation SNP A A T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr21:46047579A>T uc002zfp.3 + 1 540 c.491A>T c.(490-492)CAA>CTA p.Q164L C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198690 NP_941963 P60411 KR109_HUMAN keratin associated protein 10-9 164 15.|25 X 5 AA repeats of C-C-X(3). keratin filament 0 TCATGCTGCCAACAGTCTAGC 0.448 NA 57 245 0 0 0.00361 0 0 DIP2A 23181 broad.mit.edu 37 21 47978160 47978160 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr21:47978160G>T uc002zjo.2 + 32 4006 c.3823G>T c.(3823-3825)GTG>TTG p.V1275L DIP2A_uc011afz.1_Missense_Mutation_p.V1271L|DIP2A_uc002zjr.2_Missense_Mutation_p.V242L NM_015151 NP_055966 Q14689 DIP2A_HUMAN disco-interacting protein 2A isoform a 1275 multicellular organismal development nucleus catalytic activity|transcription factor binding ovary(2) 2 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) CCTGTCATGTGTGCGCACGTG 0.657 NA 6 12 8.12818e-05 8.67513e-05 0.001984 1 0 RTDR1 27156 broad.mit.edu 37 22 23401723 23401723 + Nonsense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr22:23401723C>A uc002zwt.2 - 7 1122 c.964G>T c.(964-966)GAG>TAG p.E322* NM_014433 NP_055248 Q9UHP6 RTDR1_HUMAN rhabdoid tumor deletion region protein 1 322 binding ovary(1) 1 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.175) TCGTAAGTCTCCACCTCCATG 0.617 NA 30 38 1.36161e-19 1.8039e-19 0.004289 1 0 CRYBA4 1413 broad.mit.edu 37 22 27019232 27019232 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr22:27019232G>T uc003acz.3 + 3 109 c.74G>T c.(73-75)CGG>CTG p.R25L NM_001886 NP_001877 P53673 CRBA4_HUMAN crystallin, beta A4 25 Beta/gamma crystallin 'Greek key' 1. camera-type eye development|visual perception soluble fraction structural constituent of eye lens 0 TTCCAGGGCCGGCGGCACGAG 0.602 NA 14 69 2.21704e-12 2.71076e-12 0.00278 1 0 SLC5A4 6527 broad.mit.edu 37 22 32620393 32620393 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr22:32620393C>A uc003ami.2 - 13 1528 c.1526G>T c.(1525-1527)GGG>GTG p.G509V NM_014227 NP_055042 Q9NY91 SC5A4_HUMAN solute carrier family 5 (low affinity glucose 509 Extracellular (Potential). carbohydrate transport|sodium ion transport integral to membrane symporter activity 0 CAAGCAACTCCCTGTTCCATA 0.458 NA 9 88 3.45872e-05 3.72628e-05 0.004007 1 0 CSF2RB 1439 broad.mit.edu 37 22 37329915 37329915 + Silent SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr22:37329915C>A uc003aqa.3 + 10 1411 c.1194C>A c.(1192-1194)GCC>GCA p.A398A CSF2RB_uc003aqc.3_Silent_p.A404A NM_000395 NP_000386 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta 398 Extracellular (Potential).|Fibronectin type-III 2. respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity skin(2)|pancreas(1) 3 Sargramostim(DB00020) ACAGCATGGCCCTGCCAGCCC 0.677 NA 13 2 1.10513e-12 1.35706e-12 0.002299 1 0 IL2RB 3560 broad.mit.edu 37 22 37532295 37532295 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr22:37532295G>T uc003aqv.1 - 7 807 c.676C>A c.(676-678)CCC>ACC p.P226T NM_000878 NP_000869 P14784 IL2RB_HUMAN interleukin 2 receptor beta precursor 226 Extracellular (Potential).|Fibronectin type-III. interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly external side of plasma membrane|integral to plasma membrane interleukin-2 receptor activity 0 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) AAGGCCAGGGGCTGGCTCCAG 0.647 NA 19 34 4.54149e-19 5.98889e-19 0.002299 1 0 IL17REL 400935 broad.mit.edu 37 22 50438923 50438923 + Missense_Mutation SNP C C A rs137904241 TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr22:50438923C>A uc003bje.1 - 6 550 c.318G>T c.(316-318)CAG>CAT p.Q106H NM_001001694 NP_001001694 Q6ZVW7 I17EL_HUMAN interleukin 17 receptor E-like 106 pancreas(1) 1 all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) CGAGGTGCCTCTGGTCCAGCT 0.652 NA 4 5 0.00909568 0.00927435 0.009096 1 0 KLHDC7B 113730 broad.mit.edu 37 22 50987690 50987690 + Silent SNP C C T rs147168342 byFrequency TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr22:50987690C>T uc003bmi.2 + 1 1229 c.1095C>T c.(1093-1095)TCC>TCT p.S365S NM_138433 NP_612442 Q96G42 KLD7B_HUMAN kelch domain containing 7B 365 Kelch 2. central_nervous_system(1) 1 all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TCCGTGGCTCCGGTGCCAAGG 0.672 NA 2 1 0 0 0.004672 0 0 CHL1 10752 broad.mit.edu 37 3 433422 433422 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr3:433422G>T uc003bou.2 + 22 3079 c.2808G>T c.(2806-2808)TGG>TGT p.W936C CHL1_uc003bot.2_Missense_Mutation_p.W952C|CHL1_uc003bow.1_Missense_Mutation_p.W936C|CHL1_uc011asi.1_Missense_Mutation_p.W952C NM_006614 NP_006605 O00533 CHL1_HUMAN cell adhesion molecule with homology to L1CAM 936 Fibronectin type-III 4.|Extracellular (Potential). axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1) 12 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) CTTTATCTTGGGGACTACCTA 0.323 NA 40 21 6.07928e-31 8.87792e-31 0.009718 1 0 DLEC1 9940 broad.mit.edu 37 3 38104226 38104226 + Missense_Mutation SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr3:38104226C>T uc003cho.1 + 5 1049 c.1028C>T c.(1027-1029)TCT>TTT p.S343F DLEC1_uc003chp.1_Missense_Mutation_p.S343F|DLEC1_uc010hgv.1_Missense_Mutation_p.S343F|DLEC1_uc010hgw.1_Missense_Mutation_p.S42F|DLEC1_uc003chq.1_RNA NM_007335 NP_031361 Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 isoform 343 negative regulation of cell proliferation cytoplasm ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1) 9 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) GGAGGCAAGTCTCTTGTTTTT 0.458 NA 18 12 0 0 0.002299 0 0 XIRP1 165904 broad.mit.edu 37 3 39229235 39229235 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr3:39229235G>T uc003cjk.1 - 2 1923 c.1702C>A c.(1702-1704)CAG>AAG p.Q568K XIRP1_uc003cji.2_Missense_Mutation_p.Q568K|XIRP1_uc003cjj.2_Intron NM_194293 NP_919269 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 568 Interaction with CTNNB1 (By similarity). actin binding ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1) 8 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) TGTCGTTCCTGCTGCTCCCGT 0.617 NA 17 4 2.41591e-17 3.12101e-17 0.004656 1 0 ZNF35 7584 broad.mit.edu 37 3 44700712 44700713 + Missense_Mutation DNP CC CC AA TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr3:44700712_44700713CC>AA uc003cnq.2 + 4 1078_1079 c.857_858CC>AA c.(856-858)GCC>GAA p.A286E ZNF35_uc003cnr.2_Missense_Mutation_p.A126E NM_003420 NP_003411 P13682 ZNF35_HUMAN zinc finger protein 35 286 C2H2-type 3. cellular response to retinoic acid|spermatogenesis nucleus|perinuclear region of cytoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Ovarian(412;0.0228) OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) TGTGGGAAAGCCTTCACTCAGA 0.411 NA 43 26 0 0 0.004672 0 0 PRSS42 339906 broad.mit.edu 37 3 46873408 46873408 + Silent SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr3:46873408C>A uc011bap.1 - 4 750 c.750G>T c.(748-750)GGG>GGT p.G250G PRSS42_uc003cqj.2_Intron NM_182702 NP_874361 Q7Z5A4 PRS42_HUMAN testis serine protease 2 precursor 250 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity pancreas(1) 1 CACAGACCATCCCTTTTATTA 0.383 NA 43 26 1.47857e-17 1.91879e-17 0.00361 1 0 KIF9 64147 broad.mit.edu 37 3 47286357 47286357 + Missense_Mutation SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr3:47286357C>T uc010hjp.2 - 16 2042 c.1438G>A c.(1438-1440)GGA>AGA p.G480R KIF9_uc003cqx.2_Missense_Mutation_p.G480R|KIF9_uc003cqy.2_Missense_Mutation_p.G480R|KIF9_uc011bat.1_RNA NM_001134878 NP_001128350 Q9HAQ2 KIF9_HUMAN kinesin family member 9 isoform 2 480 blood coagulation|microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity skin(1) 1 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) ACTCCGAGTCCAAAGTTTTGT 0.527 Colon(44;962 1147 15977 24541) NA 3 39 0 0 0.009096 0 0 EPHA3 2042 broad.mit.edu 37 3 89456501 89456501 + Silent SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr3:89456501C>A uc003dqy.2 + 8 1902 c.1677C>A c.(1675-1677)GTC>GTA p.V559V EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 559 Helical; (Potential). extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) TCACTGTTGTCATCTATGTTT 0.423 NA TSP Lung(6;0.00050) 65 68 1.15062e-32 1.7065e-32 0.00361 1 0 PLCXD2 257068 broad.mit.edu 37 3 111427042 111427042 + Nonsense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr3:111427042G>T uc003dya.2 + 2 1019 c.433G>T c.(433-435)GAA>TAA p.E145* PLCXD2_uc003dyb.2_Nonsense_Mutation_p.E145*|PLCXD2_uc003dxz.2_Nonsense_Mutation_p.E145* NM_001134478 NP_001127950 Q0VAA5 PLCX2_HUMAN phosphatidylinositol-specific phospholipase C, X 145 PI-PLC X-box. intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity skin(1) 1 TGGGCTGATGGAAATTGACTC 0.493 NA 39 100 4.64027e-19 6.10505e-19 0.00361 1 0 ATP1B3 483 broad.mit.edu 37 3 141632604 141632604 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr3:141632604G>T uc003eug.1 + 4 631 c.457G>T c.(457-459)GCA>TCA p.A153S ATP1B3_uc011bne.1_RNA|ATP1B3_uc003euh.1_Missense_Mutation_p.A139S NM_001679 NP_001670 P54709 AT1B3_HUMAN Na+/K+ -ATPase beta 3 subunit 153 Extracellular (Potential). ATP biosynthetic process|blood coagulation|leukocyte migration melanosome|sodium:potassium-exchanging ATPase complex protein binding|sodium:potassium-exchanging ATPase activity 0 ATTACTTCAAGCATGCAGTGG 0.398 NA 134 69 1.47408e-88 2.60589e-88 0.00361 1 0 B3GNT5 84002 broad.mit.edu 37 3 182988136 182988136 + Missense_Mutation SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr3:182988136C>T uc003flk.2 + 2 1080 c.550C>T c.(550-552)CCA>TCA p.P184S MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003fll.2_Missense_Mutation_p.P184S|B3GNT5_uc003flm.2_Missense_Mutation_p.P184S NM_032047 NP_114436 Q9BYG0 B3GN5_HUMAN UDP-GlcNAc:betaGal 184 Lumenal (Potential). central nervous system development|glycolipid biosynthetic process|protein glycosylation Golgi membrane|integral to membrane beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity ovary(1) 1 all_cancers(143;8.52e-13)|Ovarian(172;0.0355) all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) TACCTATTGTCCACATGCCAA 0.333 NA 7 151 0 0 0.004482 0 0 MUC4 4585 broad.mit.edu 37 3 195516223 195516223 + Missense_Mutation SNP G G C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr3:195516223G>C uc011bto.1 - 2 2688 c.2228C>G c.(2227-2229)TCT>TGT p.S743C MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.S625C NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 748 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TGACACTACAGAGTTGGCCAG 0.602 NA 13 8 0 0 0.00245 0 0 NOP14 8602 broad.mit.edu 37 4 2954074 2954074 + Silent SNP C C T rs149472162 byFrequency TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr4:2954074C>T uc003ggj.1 - 6 870 c.798G>A c.(796-798)GCG>GCA p.A266A C4orf10_uc003ggi.1_Intron|NOP14_uc010icp.2_Silent_p.A12A|NOP14_uc003ggk.3_Silent_p.A266A|NOP14_uc003ggl.2_Silent_p.A266A|NOP14_uc010icq.1_RNA NM_003703 NP_003694 P78316 NOP14_HUMAN probable nucleolar complex protein 14 266 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) mitochondrion|Noc4p-Nop14p complex|small-subunit processome snoRNA binding pancreas(1) 1 TAGAGGGCTGCGCCTTCATTT 0.463 NA 3 35 0 0 0.000602 0 0 HS3ST1 9957 broad.mit.edu 37 4 11401489 11401489 + Silent SNP T T A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr4:11401489T>A uc003gmq.2 - 2 464 c.141A>T c.(139-141)CCA>CCT p.P47P NM_005114 NP_005105 O14792 HS3S1_HUMAN heparan sulfate D-glucosaminyl 47 Golgi lumen|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity skin(1) 1 CAGAGCCGTTTGGGGCCACGC 0.692 NA 11 16 0 0 0.001368 0 0 GPR125 166647 broad.mit.edu 37 4 22422541 22422541 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr4:22422541C>A uc003gqm.1 - 12 2042 c.1777G>T c.(1777-1779)GTT>TTT p.V593F GPR125_uc010ieo.1_Missense_Mutation_p.V467F|GPR125_uc003gqn.1_Missense_Mutation_p.V367F|GPR125_uc003gqo.2_Missense_Mutation_p.V593F NM_145290 NP_660333 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 precursor 593 Extracellular (Potential). neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity skin(1) 1 Breast(46;0.198) GTATTTGAAACATTGCACTTA 0.413 NA 93 420 8.58103e-55 1.44536e-54 0.00361 1 0 CCKAR 886 broad.mit.edu 37 4 26487314 26487314 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr4:26487314G>T uc003gse.1 - 3 724 c.571C>A c.(571-573)CAG>AAG p.Q191K NM_000730 NP_000721 P32238 CCKAR_HUMAN cholecystokinin A receptor 191 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity lung(3)|pancreas(1) 4 Breast(46;0.0503) Ceruletide(DB00403) TTCGCGGTCTGGTTGTTATTT 0.408 NA 42 132 9.22156e-22 1.26271e-21 0.00361 1 0 PGM2 55276 broad.mit.edu 37 4 37841740 37841740 + Missense_Mutation SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr4:37841740C>T uc011byb.1 + 6 651 c.578C>T c.(577-579)TCT>TTT p.S193F PGM2_uc011bya.1_Missense_Mutation_p.S54F|PGM2_uc011byc.1_Missense_Mutation_p.S33F NM_018290 NP_060760 Q96G03 PGM2_HUMAN phosphoglucomutase 2 193 glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity ovary(1) 1 AAAGGGATTTCTCAAGCTATT 0.418 NA 7 212 0 0 0.00308 0 0 EPHA5 2044 broad.mit.edu 37 4 66217258 66217258 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr4:66217258G>T uc003hcy.2 - 14 2550 c.2357C>A c.(2356-2358)GCA>GAA p.A786E EPHA5_uc003hcx.2_Missense_Mutation_p.A718E|EPHA5_uc003hcz.2_Missense_Mutation_p.A764E|EPHA5_uc011cah.1_Missense_Mutation_p.A787E|EPHA5_uc011cai.1_Missense_Mutation_p.A765E|EPHA5_uc003hda.2_Missense_Mutation_p.A787E NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 786 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 CTTCATTCCTGCAGAGATACC 0.413 NA TSP Lung(17;0.13) 79 77 1.0627e-70 1.85567e-70 0.00361 1 0 UGT2B28 54490 broad.mit.edu 37 4 70152489 70152489 + Missense_Mutation SNP A A T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr4:70152489A>T uc003hej.2 + 3 892 c.890A>T c.(889-891)CAG>CTG p.Q297L UGT2B28_uc010ihr.2_Missense_Mutation_p.Q297L NM_053039 NP_444267 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, 297 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(1) 1 Flunitrazepam(DB01544) GAATTTGTACAGAGCTCTGGT 0.403 NA 77 224 0 0 0.00361 0 0 UTP3 57050 broad.mit.edu 37 4 71555768 71555768 + Silent SNP G G A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr4:71555768G>A uc003hfo.2 + 1 1573 c.1374G>A c.(1372-1374)GAG>GAA p.E458E NM_020368 NP_065101 Q9NQZ2 SAS10_HUMAN UTP3, small subunit processome component 458 brain development|chromatin modification|gene silencing nucleolus 0 Lung(101;0.235) GTAAAGAAGAGCAACGTTATA 0.388 NA 71 127 0 0 0.00361 0 0 AFP 174 broad.mit.edu 37 4 74313324 74313324 + Missense_Mutation SNP T T A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr4:74313324T>A uc003hgz.1 + 8 1036 c.989T>A c.(988-990)CTA>CAA p.L330Q AFP_uc003hha.1_Missense_Mutation_p.L330Q|AFP_uc011cbg.1_Missense_Mutation_p.L104Q NM_001134 NP_001125 P02771 FETA_HUMAN alpha-fetoprotein precursor 330 Albumin 2. transport metal ion binding ovary(1) 1 Breast(15;0.00102) Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TCTCCAAATCTAAACAGGTTT 0.358 NA Alpha-Fetoprotein_Hereditary_Persistence_of 32 18 0 0 0.002836 0 0 PRKG2 5593 broad.mit.edu 37 4 82126159 82126159 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr4:82126159C>A uc003hmh.2 - 1 57 c.43G>T c.(43-45)GAT>TAT p.D15Y PRKG2_uc011cch.1_Missense_Mutation_p.D15Y NM_006259 NP_006250 Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 15 platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1) 7 GAGTGTCCATCTGGGTGCTTA 0.502 NA 3 38 0.00909568 0.00927435 0.009096 1 0 SLC10A6 345274 broad.mit.edu 37 4 87770264 87770264 + Missense_Mutation SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr4:87770264C>T uc003hqd.2 - 1 153 c.5G>A c.(4-6)AGA>AAA p.R2K NM_197965 NP_932069 Q3KNW5 SOAT_HUMAN sodium-dependent organic anion transporter 2 Extracellular (Potential). integral to membrane|plasma membrane bile acid:sodium symporter activity 0 Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248) OV - Ovarian serous cystadenocarcinoma(123;0.00099) ACAATTGGCTCTCATCTCCTC 0.512 NA 6 125 0 0 0.001984 0 0 SPARCL1 8404 broad.mit.edu 37 4 88416205 88416205 + Silent SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr4:88416205G>T uc010ikm.2 - 4 701 c.129C>A c.(127-129)CCC>CCA p.P43P SPARCL1_uc011cdc.1_Intron|SPARCL1_uc003hqs.3_Silent_p.P43P|SPARCL1_uc011cdd.1_5'UTR|SPARCL1_uc003hqt.2_Silent_p.P43P NM_001128310 NP_001121782 Q14515 SPRL1_HUMAN SPARC-like 1 precursor 43 O-glycosylated at two sites. signal transduction extracellular space|proteinaceous extracellular matrix calcium ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(123;0.00118) CCCTTAAACTGGGGATTGCAG 0.358 NA 57 108 6.83469e-46 1.10243e-45 0.00361 1 0 BANK1 55024 broad.mit.edu 37 4 102751288 102751288 + Nonsense_Mutation SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr4:102751288C>T uc003hvy.3 + 2 668 c.394C>T c.(394-396)CAA>TAA p.Q132* BANK1_uc003hvx.3_Nonsense_Mutation_p.Q117*|BANK1_uc010ill.2_Intron|BANK1_uc003hvz.3_Nonsense_Mutation_p.Q102* NM_017935 NP_060405 Q8NDB2 BANK1_HUMAN B-cell scaffold protein with ankyrin repeats 1 132 Interaction with ITPR2. B cell activation ovary(2)|skin(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) AAATATCTCTCAAAGCAGATG 0.373 NA 44 85 0 0 0.00361 0 0 SEC24B 10427 broad.mit.edu 37 4 110448546 110448546 + Nonsense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr4:110448546G>T uc003hzk.2 + 18 3089 c.3034G>T c.(3034-3036)GGA>TGA p.G1012* SEC24B_uc003hzl.2_Nonsense_Mutation_p.G977*|SEC24B_uc011cfp.1_Nonsense_Mutation_p.G1042*|SEC24B_uc011cfq.1_Nonsense_Mutation_p.G1011*|SEC24B_uc011cfr.1_Nonsense_Mutation_p.G976* NM_006323 NP_006314 O95487 SC24B_HUMAN SEC24 (S. cerevisiae) homolog B isoform a 1012 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding ovary(2)|large_intestine(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) TGTATATGCGGGAGTGGATGT 0.368 NA 55 58 1.38705e-31 2.03601e-31 0.00361 1 0 ANK2 287 broad.mit.edu 37 4 114158753 114158754 + Splice_Site DNP AG AG TA TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 AG AG - - AG AG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr4:114158753_114158754AG>TA uc003ibe.3 + 7 770 c.670_splice c.e7-1 p.M224_splice ANK2_uc003ibd.3_Splice_Site_p.M203_splice|ANK2_uc003ibf.3_Splice_Site_p.M224_splice|ANK2_uc003ibc.2_Splice_Site_p.M200_splice|ANK2_uc011cgb.1_Splice_Site_p.M239_splice NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) ACACTGCTTCAGATGATGGTGA 0.361 NA 41 62 0 0 0.004672 0 0 ANK2 287 broad.mit.edu 37 4 114276963 114276963 + Missense_Mutation SNP T T C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr4:114276963T>C uc003ibe.3 + 38 7289 c.7189T>C c.(7189-7191)TCA>CCA p.S2397P ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.S2412P NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 2364 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) AGGAACTGAATCAAAACCTCA 0.502 NA 60 76 0 0 0.00361 0 0 MFSD8 256471 broad.mit.edu 37 4 128863280 128863281 + Missense_Mutation DNP CC CC AA TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr4:128863280_128863281CC>AA uc003ifp.2 - 6 635_636 c.472_473GG>TT c.(472-474)GGT>TTT p.G158F MFSD8_uc011cgu.1_Missense_Mutation_p.G113F|MFSD8_uc011cgv.1_Intron|MFSD8_uc011cgw.1_Intron|MFSD8_uc011cgx.1_Missense_Mutation_p.G113F NM_152778 NP_689991 Q8NHS3 MFSD8_HUMAN major facilitator superfamily domain containing 158 Cytoplasmic (Potential). cell death|transmembrane transport integral to membrane|lysosomal membrane ovary(1)|liver(1) 2 GGAAGTAGCACCAGCAGTATAT 0.356 NA 54 96 0 0 0.004672 0 0 INPP4B 8821 broad.mit.edu 37 4 143129683 143129683 + Splice_Site SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr4:143129683C>A uc003iix.3 - 15 1563 c.968_splice c.e15-1 p.G323_splice INPP4B_uc003iiw.3_Splice_Site_p.G323_splice|INPP4B_uc011chm.1_Splice_Site|INPP4B_uc011chn.1_Splice_Site_p.G138_splice|INPP4B_uc011cho.1_Splice_Site|INPP4B_uc011chp.1_Splice_Site_p.G194_splice NM_003866 NP_003857 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity ovary(1)|lung(1) 2 all_hematologic(180;0.158) AAAGAGGACCCTGATGGAAAC 0.303 NA 11 26 0.00136819 0.00142043 0.001368 1 0 ARHGAP10 79658 broad.mit.edu 37 4 148876486 148876486 + Missense_Mutation SNP A A G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr4:148876486A>G uc003ilf.2 + 16 1411 c.1411A>G c.(1411-1413)ATG>GTG p.M471V ARHGAP10_uc003ilg.2_Missense_Mutation_p.M120V|ARHGAP10_uc003ilh.2_Missense_Mutation_p.M52V NM_024605 NP_078881 A1A4S6 RHG10_HUMAN Rho GTPase activating protein 10 471 Rho-GAP. apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm|plasma membrane cytoskeletal adaptor activity|SH3 domain binding skin(2)|pancreas(1)|lung(1) 4 all_hematologic(180;0.151) Renal(17;0.0166) GBM - Glioblastoma multiforme(119;0.0423) AGAGCCTCTCATGACCTATGA 0.348 NA 71 256 0 0 0.00361 0 0 LRBA 987 broad.mit.edu 37 4 151223840 151223840 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr4:151223840C>A uc010ipj.2 - 54 8461 c.7987G>T c.(7987-7989)GAT>TAT p.D2663Y LRBA_uc010ipi.2_Missense_Mutation_p.D185Y|LRBA_uc003ils.3_Missense_Mutation_p.D558Y|LRBA_uc003ilt.3_Missense_Mutation_p.D1311Y|LRBA_uc003ilu.3_Missense_Mutation_p.D2652Y|LRBA_uc003ilr.3_Missense_Mutation_p.D83Y NM_006726 NP_006717 P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and 2663 WD 3. endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding ovary(3)|breast(3)|skin(1) 7 all_hematologic(180;0.151) AGAGTTGCATCACGTGACCCT 0.423 NA 69 124 3.58576e-35 5.5487e-35 0.00361 1 0 DCHS2 54798 broad.mit.edu 37 4 155156960 155156960 + Silent SNP G G A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr4:155156960G>A uc003inw.2 - 25 7479 c.7479C>T c.(7477-7479)CTC>CTT p.L2493L NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 2493 Cadherin 22. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CTTCTTTGTTGAGTTGACTTT 0.353 NA 4 90 0 0 0.009096 0 0 NPY2R 4887 broad.mit.edu 37 4 156135190 156135191 + Missense_Mutation DNP CC CC AA TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr4:156135190_156135191CC>AA uc003ioq.2 + 2 594_595 c.99_100CC>AA c.(97-102)GTCCCT>GTAACT p.P34T NPY2R_uc003ior.2_Missense_Mutation_p.P34T NM_000910 NP_000901 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 34 Extracellular (Potential). cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity lung(2)|skin(1) 3 all_hematologic(180;0.24) Renal(120;0.0854) GTGAACTGGTCCCTGACCCTGA 0.475 NA 32 71 0 0 0.004672 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156631723 156631723 + Missense_Mutation SNP C C G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr4:156631723C>G uc003iov.2 + 7 942 c.406C>G c.(406-408)CTT>GTT p.L136V GUCY1A3_uc003iou.2_Missense_Mutation_p.L136V|GUCY1A3_uc010iqc.2_Missense_Mutation_p.L136V|GUCY1A3_uc003iow.2_Missense_Mutation_p.L136V|GUCY1A3_uc010iqd.2_Missense_Mutation_p.L135V|GUCY1A3_uc003iox.2_Missense_Mutation_p.L136V|GUCY1A3_uc003ioz.2_5'UTR|GUCY1A3_uc003ioy.2_Missense_Mutation_p.L136V|GUCY1A3_uc010iqe.2_Intron|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Missense_Mutation_p.L136V NM_000856 NP_000847 Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 isoform A 136 VIKESLGEEVFKICYEEDENILGVVGGTLKDFLNSFSTLLK QSSHCQEAGKRGR -> LSKNLLVKRFLKYVTRKMKTSLGW LEAPLKIFKQLQYPSETEQPLPRSRKKGQ (in Ref. 1). blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) CAAAGAATCTCTTGGTGAAGA 0.388 NA 4 83 0 0 0.001168 0 0 SLC6A18 348932 broad.mit.edu 37 5 1240646 1240646 + Silent SNP G G A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr5:1240646G>A uc003jby.1 + 7 969 c.846G>A c.(844-846)AGG>AGA p.R282R NM_182632 NP_872438 Q96N87 S6A18_HUMAN solute carrier family 6, member 18 282 Cytoplasmic (Potential). cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity ovary(1) 1 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) TTGTGCCCAGGAATGACTGCC 0.587 NA 6 38 0 0 0.006214 0 0 KIAA0947 23379 broad.mit.edu 37 5 5473809 5473809 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr5:5473809G>T uc003jdm.3 + 16 6583 c.6361G>T c.(6361-6363)GAT>TAT p.D2121Y NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 2121 ovary(1)|central_nervous_system(1) 2 ATTTGCCATTGATCTGCTCTG 0.333 NA 11 27 2.32078e-09 2.68797e-09 0.003163 1 0 SEMA5A 9037 broad.mit.edu 37 5 9190417 9190417 + Missense_Mutation SNP C C G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr5:9190417C>G uc003jek.2 - 11 1947 c.1235G>C c.(1234-1236)GGC>GCC p.G412A NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 412 Sema.|Extracellular (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 CGCTTCTCTGCCCTGCACCAC 0.522 NA 11 47 0 0 0.003163 0 0 CTNND2 1501 broad.mit.edu 37 5 11098777 11098777 + Silent SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr5:11098777G>T uc003jfa.1 - 15 2692 c.2547C>A c.(2545-2547)CCC>CCA p.P849P CTNND2_uc010itt.2_Silent_p.P758P|CTNND2_uc011cmy.1_Silent_p.P512P|CTNND2_uc011cmz.1_Silent_p.P416P|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.P416P NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 849 ARM 7. multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 GTGTGAGGTAGGGTTTGACTA 0.562 NA 43 48 7.22619e-39 1.13982e-38 0.00361 1 0 RNASEN 29102 broad.mit.edu 37 5 31406967 31406967 + Missense_Mutation SNP C C G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr5:31406967C>G uc003jhg.2 - 33 4299 c.3940G>C c.(3940-3942)GGA>CGA p.G1314R RNASEN_uc003jhh.2_Missense_Mutation_p.G1277R NM_013235 NP_037367 Q9NRR4 RNC_HUMAN ribonuclease III, nuclear isoform 1 1314 Necessary for interaction with DGCR8 and pri-miRNA processing activity.|DRBM. gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity 0 TACCTTGGTCCTTTCCCACAG 0.463 NA 31 82 0 0 0.004878 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33576861 33576861 + Silent SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr5:33576861G>T uc003jia.1 - 19 3433 c.3270C>A c.(3268-3270)CCC>CCA p.P1090P ADAMTS12_uc010iuq.1_Silent_p.P1005P NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1090 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 AAGTGAGGATGGGCTGGGAAG 0.512 NA HNSCC(64;0.19) 110 198 2.31934e-59 3.9651e-59 0.00361 1 0 IL7R 3575 broad.mit.edu 37 5 35876346 35876346 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr5:35876346C>A uc003jjs.2 + 8 1227 c.1138C>A c.(1138-1140)CCT>ACT p.P380T IL7R_uc011cop.1_RNA NM_002185 NP_002176 P16871 IL7RA_HUMAN interleukin 7 receptor precursor 380 Cytoplasmic (Potential). immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity ovary(3)|breast(1)|skin(1) 5 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) ATGTGACGCCCCTATTCTCTC 0.537 NA 31 69 3.78316e-11 4.51921e-11 0.00623 1 0 HCN1 348980 broad.mit.edu 37 5 45262807 45262807 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr5:45262807C>A uc003jok.2 - 8 1914 c.1889G>T c.(1888-1890)AGG>ATG p.R630M NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 630 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 CACCATCTCCCTGTCATGTTT 0.448 NA 80 131 2.76863e-45 4.45321e-45 0.00361 1 0 RASGRF2 5924 broad.mit.edu 37 5 80369234 80369234 + Missense_Mutation SNP A A G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr5:80369234A>G uc003kha.1 + 5 850 c.850A>G c.(850-852)ATC>GTC p.I284V RASGRF2_uc011ctn.1_RNA|RASGRF2_uc003khb.1_Missense_Mutation_p.I112V NM_006909 NP_008840 O14827 RGRF2_HUMAN Ras protein-specific guanine 284 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1) 12 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) GAAGCCCCCCATCAGCCACGA 0.483 NA 4 29 0 0 0.000978 0 0 EDIL3 10085 broad.mit.edu 37 5 83402547 83402547 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr5:83402547G>T uc003kio.1 - 6 990 c.571C>A c.(571-573)CCC>ACC p.P191T EDIL3_uc003kip.1_Missense_Mutation_p.P181T NM_005711 NP_005702 O43854 EDIL3_HUMAN EGF-like repeats and discoidin I-like 191 F5/8 type C 1. cell adhesion|multicellular organismal development extracellular region calcium ion binding|integrin binding skin(2) 2 Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425) OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26) GCATAGTAGGGATACCATTTT 0.458 NA 48 139 1.00776e-21 1.37334e-21 0.00361 1 0 PAM 5066 broad.mit.edu 37 5 102343170 102343170 + Missense_Mutation SNP G G T rs148652099 TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr5:102343170G>T uc003knw.2 + 19 2397 c.2024G>T c.(2023-2025)GGG>GTG p.G675V PAM_uc003kns.2_Missense_Mutation_p.G568V|PAM_uc003knt.2_Missense_Mutation_p.G675V|PAM_uc003knu.2_Missense_Mutation_p.G675V|PAM_uc003knv.2_Missense_Mutation_p.G675V|PAM_uc011cuz.1_Missense_Mutation_p.G578V|PAM_uc003knz.2_5'UTR NM_000919 NP_000910 P19021 AMD_HUMAN peptidylglycine alpha-amidating monooxygenase 675 Peptidyl-alpha-hydroxyglycine alpha- amidating lyase (By similarity).|NHL 4.|Intragranular (Potential). peptide metabolic process|protein modification process extracellular region|integral to membrane|stored secretory granule L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding 0 all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284) Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127) Vitamin C(DB00126) GAGTCTTCAGGGAGCAGTCCT 0.438 NA 28 66 2.05212e-20 2.75708e-20 0.005524 1 0 FBN2 2201 broad.mit.edu 37 5 127597560 127597560 + Nonsense_Mutation SNP G G C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr5:127597560G>C uc003kuu.2 - 64 8671 c.8232C>G c.(8230-8232)TAC>TAG p.Y2744* NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 2744 bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CCAGTGACAGGTACTGCCCCT 0.438 NA 53 81 0 0 0.00361 0 0 PCDHA4 56144 broad.mit.edu 37 5 140188720 140188720 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr5:140188720C>A uc003lhi.2 + 1 2049 c.1948C>A c.(1948-1950)CTG>ATG p.L650M PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.L650M|PCDHA4_uc011daa.1_Missense_Mutation_p.L650M NM_018907 NP_061730 Q9UN74 PCDA4_HUMAN protocadherin alpha 4 isoform 1 precursor 650 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTACTGGTACTGGTGAAGGA 0.677 NA 43 36 5.73332e-34 8.63779e-34 0.00361 1 0 PCDHA10 56139 broad.mit.edu 37 5 140237084 140237084 + Missense_Mutation SNP A A T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr5:140237084A>T uc003lhx.2 + 1 1451 c.1451A>T c.(1450-1452)CAG>CTG p.Q484L PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Missense_Mutation_p.Q484L|PCDHA10_uc011dad.1_Missense_Mutation_p.Q484L NM_018901 NP_061724 Q9Y5I2 PCDAA_HUMAN protocadherin alpha 10 isoform 1 precursor 484 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2)|breast(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGGACGCGCAGGAGAACGCC 0.662 NA 11 30 0 0 0.007413 0 0 PCDHB4 56131 broad.mit.edu 37 5 140502607 140502607 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr5:140502607C>A uc003lip.1 + 1 1027 c.1027C>A c.(1027-1029)CCC>ACC p.P343T NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN protocadherin beta 4 precursor 343 Cadherin 3.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAATGACAATCCCCCAGAACT 0.443 NA 71 212 6.44082e-31 9.38191e-31 0.00361 1 0 PCDHB6 56130 broad.mit.edu 37 5 140531538 140531538 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr5:140531538C>A uc003lir.2 + 1 1700 c.1700C>A c.(1699-1701)TCC>TAC p.S567Y PCDHB6_uc011dah.1_Missense_Mutation_p.S431Y NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN protocadherin beta 6 precursor 567 Cadherin 6.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAGAACGGCTCCGCGCCCTGC 0.721 NA 4 6 0.000602214 0.000629788 0.000602 1 0 PCDHB16 57717 broad.mit.edu 37 5 140563163 140563163 + Silent SNP T T C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr5:140563163T>C uc003liv.2 + 1 2184 c.1029T>C c.(1027-1029)AAT>AAC p.N343N PCDHB16_uc010jfw.1_Silent_p.N15N NM_020957 NP_066008 Q9NRJ7 PCDBG_HUMAN protocadherin beta 16 precursor 343 Extracellular (Potential).|Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGAATGACAATCCCCCACAGG 0.517 NA 24 72 0 0 0.008361 0 0 PCDHGA4 56111 broad.mit.edu 37 5 140736507 140736507 + Silent SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr5:140736507C>T uc003ljq.1 + 1 1740 c.1740C>T c.(1738-1740)CGC>CGT p.R580R PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Silent_p.R580R NM_018917 NP_061740 Q9Y5G9 PCDG4_HUMAN protocadherin gamma subfamily A, 4 isoform 1 580 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGCACCCCGCTCCGCAGATT 0.587 NA 30 103 0 0 0.00361 0 0 PCDH1 5097 broad.mit.edu 37 5 141244523 141244523 + Missense_Mutation SNP A A C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr5:141244523A>C uc003llq.2 - 3 1490 c.1373T>G c.(1372-1374)CTG>CGG p.L458R PCDH1_uc003llp.2_Missense_Mutation_p.L458R|PCDH1_uc011dbf.1_Missense_Mutation_p.L436R NM_002587 NP_002578 Q08174 PCDH1_HUMAN protocadherin 1 isoform 1 precursor 458 Extracellular (Potential).|Cadherin 4. cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding ovary(5) 5 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) GGTAGTCTGCAGGAAATACTT 0.557 Ovarian(132;1609 1739 4190 14731 45037) NA 68 293 0 0 0.00361 0 0 SH3RF2 153769 broad.mit.edu 37 5 145393468 145393468 + Silent SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr5:145393468C>A uc003lnt.2 + 5 1141 c.903C>A c.(901-903)ATC>ATA p.I301I SH3RF2_uc011dbl.1_Silent_p.I301I NM_152550 NP_689763 Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 301 ligase activity|protein phosphatase 1 binding|zinc ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGTTTTCCATCACAACAGCCT 0.577 NA 108 430 5.01931e-35 7.74601e-35 0.00361 1 0 GRIA1 2890 broad.mit.edu 37 5 153030061 153030061 + Missense_Mutation SNP C C G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr5:153030061C>G uc003lva.3 + 4 997 c.632C>G c.(631-633)GCT>GGT p.A211G GRIA1_uc003luy.3_Missense_Mutation_p.A211G|GRIA1_uc003luz.3_Missense_Mutation_p.A116G|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.A131G|GRIA1_uc011dcx.1_Missense_Mutation_p.A142G|GRIA1_uc011dcy.1_Missense_Mutation_p.A221G|GRIA1_uc011dcz.1_Missense_Mutation_p.A221G|GRIA1_uc010jia.1_Missense_Mutation_p.A191G NM_001114183 NP_001107655 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 isoform 211 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding ovary(4)|skin(2) 6 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CGCCTCAATGCTATCTTGGGC 0.512 NA 48 56 0 0 0.00361 0 0 GRIA1 2890 broad.mit.edu 37 5 153085295 153085295 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr5:153085295G>T uc003lva.3 + 11 1856 c.1491G>T c.(1489-1491)TTG>TTT p.L497F GRIA1_uc003luy.3_Missense_Mutation_p.L497F|GRIA1_uc003luz.3_Missense_Mutation_p.L402F|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.L417F|GRIA1_uc011dcx.1_Missense_Mutation_p.L428F|GRIA1_uc011dcy.1_Missense_Mutation_p.L507F|GRIA1_uc011dcz.1_Missense_Mutation_p.L507F|GRIA1_uc010jia.1_Missense_Mutation_p.L477F NM_001114183 NP_001107655 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 isoform 497 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding ovary(4)|skin(2) 6 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CTATCACTTTGGTCCGGGAAG 0.388 NA 4 12 0.00024832 0.000261606 0.009096 1 0 ITK 3702 broad.mit.edu 37 5 156638359 156638359 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr5:156638359G>T uc003lwo.1 + 3 387 c.305G>T c.(304-306)TGG>TTG p.W102L NM_005546 NP_005537 Q08881 ITK_HUMAN IL2-inducible T-cell kinase 102 PH. cellular defense response|intracellular signal transduction|T cell receptor signaling pathway cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(12)|ovary(8)|skin(4)|stomach(1)|central_nervous_system(1) 26 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CGGCAGCGCTGGGTGCTGGCC 0.488 Esophageal Squamous(70;1378 1469 8785 19883) NA T SYK peripheral T-cell lymphoma 28 95 1.22674e-20 1.65205e-20 0.00874 1 0 ATP10B 23120 broad.mit.edu 37 5 160076224 160076224 + Missense_Mutation SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr5:160076224C>T uc003lym.1 - 8 1562 c.715G>A c.(715-717)GTG>ATG p.V239M ATP10B_uc003lyp.2_Missense_Mutation_p.V239M|ATP10B_uc011deg.1_Missense_Mutation_p.V283M|ATP10B_uc003lyo.2_Missense_Mutation_p.V211M NM_025153 NP_079429 O94823 AT10B_HUMAN ATPase, class V, type 10B 239 Cytoplasmic (Potential). 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 ovary(3)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTCTCACACACGATGGTATTG 0.408 NA 17 81 0 0 0.00333 0 0 ODZ2 57451 broad.mit.edu 37 5 167645863 167645863 + Missense_Mutation SNP T T A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr5:167645863T>A uc010jjd.2 + 23 4940 c.4940T>A c.(4939-4941)ATC>AAC p.I1647N ODZ2_uc003lzr.3_Missense_Mutation_p.I1417N|ODZ2_uc003lzt.3_Missense_Mutation_p.I1020N|ODZ2_uc010jje.2_Missense_Mutation_p.I911N NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) GACAACCAGATCATCACCCTC 0.532 NA 153 496 0 0 0.00361 0 0 CCDC99 54908 broad.mit.edu 37 5 169023609 169023609 + Silent SNP A A G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr5:169023609A>G uc003mae.3 + 8 1215 c.936A>G c.(934-936)GAA>GAG p.E312E CCDC99_uc010jjj.2_Silent_p.E241E|CCDC99_uc011deq.1_Silent_p.E129E|CCDC99_uc010jjk.2_Silent_p.E38E NM_017785 NP_060255 Q96EA4 SPDLY_HUMAN coiled-coil domain containing 99 312 Potential. cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole kinetochore binding|protein binding ovary(1)|liver(1) 2 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTCAAACTGAATTTGAGCAGC 0.348 NA 26 89 0 0 0.003755 0 0 F13A1 2162 broad.mit.edu 37 6 6197479 6197479 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr6:6197479C>A uc003mwv.2 - 9 1316 c.1193G>T c.(1192-1194)AGC>ATC p.S398I F13A1_uc011dib.1_Missense_Mutation_p.S335I NM_000129 NP_000120 P00488 F13A_HUMAN coagulation factor XIII A1 subunit precursor 398 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1) 6 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) CTGGGGGGTGCTGTCCACAGC 0.478 NA 40 98 4.75955e-12 5.77007e-12 0.00361 1 0 CAGE1 285782 broad.mit.edu 37 6 7355286 7355286 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr6:7355286G>T uc003mxi.2 - 8 2484 c.1763C>A c.(1762-1764)TCC>TAC p.S588Y CAGE1_uc003mxh.2_RNA|CAGE1_uc003mxj.2_Missense_Mutation_p.S541Y|CAGE1_uc003mxk.1_Missense_Mutation_p.S506Y NM_205864 NP_995586 Q8TC20 CAGE1_HUMAN cancer antigen 1 724 0 Ovarian(93;0.0418) TGCAATCTGGGAGTGGGATAT 0.308 NA 47 57 2.92391e-54 4.89604e-54 0.00361 1 0 TDP2 51567 broad.mit.edu 37 6 24666767 24666767 + Missense_Mutation SNP C C T rs143844222 by1000genomes TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr6:24666767C>T uc003nej.2 - 2 263 c.238G>A c.(238-240)GAG>AAG p.E80K TDP2_uc003nei.2_5'UTR|TDP2_uc010jpu.1_Missense_Mutation_p.E80K|ACOT13_uc010jpv.2_5'Flank|ACOT13_uc003nek.2_5'Flank NM_016614 NP_057698 O95551 TYDP2_HUMAN TRAF and TNF receptor-associated protein 80 cell surface receptor linked signaling pathway|double-strand break repair PML body 5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity ovary(1)|lung(1) 2 GTCTTGGGCTCAGAGATGGTT 0.602 NA Direct_reversal_of_damage|Editing_and_processing_nucleases 22 235 0 0 0.009535 0 0 HIST1H2AJ 8331 broad.mit.edu 37 6 27782248 27782248 + Missense_Mutation SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr6:27782248C>T uc003njn.1 - 1 271 c.271G>A c.(271-273)GAT>AAT p.D91N HIST1H2BM_uc003njo.2_5'Flank NM_021066 NP_066544 Q99878 H2A1J_HUMAN histone cluster 1, H2aj 91 nucleosome assembly nucleosome|nucleus DNA binding 0 AGCTCCTCATCGTTGCGGATG 0.612 NA 13 23 0 0 0.00278 0 0 SLC26A8 116369 broad.mit.edu 37 6 35918953 35918953 + Nonsense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr6:35918953G>T uc003olm.2 - 19 2570 c.2459C>A c.(2458-2460)TCA>TAA p.S820* SLC26A8_uc010jwa.2_RNA|SLC26A8_uc003olk.2_Nonsense_Mutation_p.S402*|SLC26A8_uc003oln.2_Nonsense_Mutation_p.S820*|SLC26A8_uc003oll.2_Nonsense_Mutation_p.S715* NM_052961 NP_443193 Q96RN1 S26A8_HUMAN solute carrier family 26, member 8 isoform a 820 Interaction with RACGAP1.|Cytoplasmic (Potential). cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity ovary(2) 2 GTCTGTTTCTGAGTAGGTTTC 0.552 NA 92 97 1.9643e-79 3.45112e-79 0.00361 1 0 LRFN2 57497 broad.mit.edu 37 6 40360626 40360626 + Missense_Mutation SNP A A C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr6:40360626A>C uc003oph.1 - 3 1891 c.1426T>G c.(1426-1428)TTC>GTC p.F476V NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III 476 Fibronectin type-III.|Extracellular (Potential). cell junction|integral to membrane|postsynaptic membrane ovary(2)|skin(1) 3 Ovarian(28;0.0418)|Colorectal(47;0.196) TTGACCACGAAGGCCTTGTTG 0.547 NA 16 24 0 0 0.007413 0 0 LRFN2 57497 broad.mit.edu 37 6 40399650 40399650 + Silent SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr6:40399650G>T uc003oph.1 - 2 1668 c.1203C>A c.(1201-1203)GGC>GGA p.G401G NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III 401 Extracellular (Potential). cell junction|integral to membrane|postsynaptic membrane ovary(2)|skin(1) 3 Ovarian(28;0.0418)|Colorectal(47;0.196) TCTTGCTGGAGCCAGTGATGT 0.657 NA 7 5 9.31168e-06 1.01276e-05 0.001855 1 0 TREML2 79865 broad.mit.edu 37 6 41162245 41162245 + Missense_Mutation SNP G G A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr6:41162245G>A uc010jxm.1 - 3 882 c.703C>T c.(703-705)CTC>TTC p.L235F NM_024807 NP_079083 Q5T2D2 TRML2_HUMAN triggering receptor expressed on myeloid 235 Extracellular (Potential). T cell activation cell surface|integral to membrane|plasma membrane protein binding|receptor activity ovary(1)|central_nervous_system(1) 2 Ovarian(28;0.0418)|Colorectal(47;0.196) CTGGTGCTGAGGTCCCCAGAC 0.622 NA 8 9 0 0 0.00308 0 0 TCTE1 202500 broad.mit.edu 37 6 44253930 44253930 + Missense_Mutation SNP A A T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr6:44253930A>T uc003oxi.2 - 3 773 c.617T>A c.(616-618)CTC>CAC p.L206H SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron NM_182539 NP_872345 Q5JU00 TCTE1_HUMAN t-complex-associated testis expressed 1 206 ovary(2)|skin(2) 4 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GCCCGGCCGGAGCTGGGCCGG 0.672 NA 5 6 0 0 0.004482 0 0 COL21A1 81578 broad.mit.edu 37 6 55922481 55922481 + Missense_Mutation SNP G G A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr6:55922481G>A uc003pcs.2 - 30 3080 c.2848C>T c.(2848-2850)CCG>TCG p.P950S COL21A1_uc010jzz.2_Missense_Mutation_p.P335S|COL21A1_uc011dxg.1_Missense_Mutation_p.P323S|COL21A1_uc011dxh.1_Missense_Mutation_p.P301S|COL21A1_uc003pcr.2_Missense_Mutation_p.P307S NM_030820 NP_110447 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 precursor 950 cell adhesion collagen|cytoplasm structural molecule activity ovary(2) 2 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) TTTCTGAACGGATCTCTTCTG 0.473 NA 33 45 0 0 0.00623 0 0 RFPL4B 442247 broad.mit.edu 37 6 112671067 112671067 + Nonsense_Mutation SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr6:112671067C>T uc003pvx.1 + 3 469 c.157C>T c.(157-159)CGA>TGA p.R53* NM_001013734 NP_001013756 Q6ZWI9 RFPLB_HUMAN ret finger protein-like 4B 53 RING-type. zinc ion binding 0 all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209) all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244) CCCCTTGTGTCGAGACGTGGT 0.463 NA 3 38 0 0 0.009096 0 0 NCOA7 135112 broad.mit.edu 37 6 126210971 126210971 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr6:126210971G>T uc010kes.2 + 11 2220 c.1771G>T c.(1771-1773)GTA>TTA p.V591L NCOA7_uc003qae.3_Missense_Mutation_p.V591L|NCOA7_uc003qah.2_Missense_Mutation_p.V580L|NCOA7_uc003qai.2_Missense_Mutation_p.V591L|NCOA7_uc010ket.2_Missense_Mutation_p.V476L NM_181782 NP_861447 Q8NI08 NCOA7_HUMAN nuclear receptor coactivator 7 isoform 1 591 cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(2)|ovary(1) 3 UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237) GCCCCTCCCGGTAAAACTGAA 0.468 NA 20 34 3.5997e-14 4.49765e-14 0.002299 1 0 PDE10A 10846 broad.mit.edu 37 6 165806140 165806140 + Missense_Mutation SNP G G A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr6:165806140G>A uc003qun.2 - 17 1862 c.1621C>T c.(1621-1623)CTT>TTT p.L541F PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.L471F|PDE10A_uc003quo.2_Missense_Mutation_p.L551F NM_006661 NP_006652 Q9Y233 PDE10_HUMAN phosphodiesterase 10A isoform 2 541 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding ovary(3)|skin(2) 5 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) CCCACCTCAAGGTCTGTGAAA 0.458 Esophageal Squamous(22;308 615 5753 12038 40624) NA 109 312 0 0 0.00361 0 0 CARD11 84433 broad.mit.edu 37 7 2976689 2976689 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr7:2976689G>T uc003smv.2 - 9 1727 c.1323C>A c.(1321-1323)GAC>GAA p.D441E NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 441 Potential. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1) 50 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) GGTTGTTGCTGTCCTTGGAGA 0.672 NA Mis DLBCL 14 12 7.05477e-17 9.032e-17 0.00499 1 0 MEOX2 4223 broad.mit.edu 37 7 15652213 15652213 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr7:15652213C>A uc003stc.2 - 3 995 c.714G>T c.(712-714)AGG>AGT p.R238S MEOX2_uc011jxw.1_Missense_Mutation_p.R238S NM_005924 NP_005915 P50222 MEOX2_HUMAN mesenchyme homeobox 2 238 Homeobox. blood circulation|multicellular organismal development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 UCEC - Uterine corpus endometrioid carcinoma (126;0.0822) ACTTCATCCGCCTGTTTTGGA 0.438 Esophageal Squamous(140;197 1769 16409 18257 29929) NA 19 93 7.45023e-12 8.97485e-12 0.010504 1 0 ABCB5 340273 broad.mit.edu 37 7 20698196 20698196 + Missense_Mutation SNP T T A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr7:20698196T>A uc003suw.3 + 5 815 c.269T>A c.(268-270)ATT>AAT p.I90N ABCB5_uc010kuh.2_Missense_Mutation_p.I535N|ABCB5_uc003suv.3_Missense_Mutation_p.I90N|ABCB5_uc011jyi.1_Missense_Mutation_p.I90N NM_178559 NP_848654 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B, member 5 90 ABC transporter 1.|Extracellular (Potential). regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1) 6 AGGATCGCAATTGCTCGTGCC 0.438 NA 33 145 0 0 0.00874 0 0 GPNMB 10457 broad.mit.edu 37 7 23286420 23286420 + Translation_Start_Site SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr7:23286420C>T uc003swc.2 + 1 105 c.-56C>T c.(-58--54)GACGG>GATGG GPNMB_uc003swa.2_Translation_Start_Site|GPNMB_uc003swb.2_Translation_Start_Site|GPNMB_uc011jyy.1_Translation_Start_Site|GPNMB_uc011jyz.1_Translation_Start_Site NM_001005340 NP_001005340 Q14956 GPNMB_HUMAN glycoprotein (transmembrane) nmb isoform a negative regulation of cell proliferation melanosome ovary(3)|breast(2) 5 GBM - Glioblastoma multiforme(13;0.154) TCTTGGTGGACGGGCCCAGAG 0.493 NA 19 22 0 0 0.008871 0 0 ANLN 54443 broad.mit.edu 37 7 36462361 36462361 + Missense_Mutation SNP T T A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr7:36462361T>A uc003tff.2 + 14 2623 c.2419T>A c.(2419-2421)TCA>ACA p.S807T ANLN_uc011kaz.1_Missense_Mutation_p.S719T|ANLN_uc003tfg.2_Missense_Mutation_p.S770T|ANLN_uc010kxe.2_Missense_Mutation_p.S769T NM_018685 NP_061155 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 807 Localization to the cleavage furrow. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding ovary(2)|skin(1) 3 AGTTACTTTGTCAGAAATCCG 0.388 NA 30 153 0 0 0.003271 0 0 POU6F2 11281 broad.mit.edu 37 7 39379247 39379247 + Missense_Mutation SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr7:39379247C>T uc003thb.1 + 5 560 c.518C>T c.(517-519)TCA>TTA p.S173L POU6F2_uc010kxo.2_Missense_Mutation_p.S165L NM_007252 NP_009183 P78424 PO6F2_HUMAN POU class 6 homeobox 2 isoform 1 173 Gln-rich. central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 GTAGCTACCTCATCCCTGAAC 0.393 NA 13 22 0 0 0.003163 0 0 GLI3 2737 broad.mit.edu 37 7 42063147 42063147 + Nonsense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr7:42063147C>A uc011kbh.1 - 10 1508 c.1417G>T c.(1417-1419)GAG>TAG p.E473* GLI3_uc011kbg.1_Nonsense_Mutation_p.E414* NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 473 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 ACTTCAGGCTCCTGTTTGCTT 0.547 NA Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome 41 51 6.17242e-35 9.44893e-35 0.00361 1 0 CDC14C 168448 broad.mit.edu 37 7 48965406 48965406 + Nonsense_Mutation SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr7:48965406C>T uc010kyv.1 + 1 1250 c.1138C>T c.(1138-1140)CAG>TAG p.Q380* NR_003595 SubName: Full=Putative uncharacterized protein MGC26484; 0 GAATCAAGACCAGCAAGAACC 0.458 NA 9 22 0 0 0.001855 0 0 DDC 1644 broad.mit.edu 37 7 50563117 50563117 + Splice_Site SNP T T A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr7:50563117T>A uc003tpf.3 - 9 963 c.877_splice c.e9-1 p.F293_splice DDC_uc010kza.2_Splice_Site_p.F208_splice|DDC_uc003tpg.3_Splice_Site_p.F293_splice NM_000790 NP_000781 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding ovary(2) 2 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) ATCTGCAAACTGCCAAAGAAC 0.313 NA 12 37 0 0 0.00245 0 0 ZNF735 730291 broad.mit.edu 37 7 63674397 63674397 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr7:63674397C>A uc011kdn.1 + 3 173 c.173C>A c.(172-174)ACT>AAT p.T58N NM_001159524 NP_001152996 P0CB33 ZN735_HUMAN zinc finger protein 735 58 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ACAGGTATGACTGTCTCTAAG 0.279 NA 9 40 0.000274275 0.000288418 0.004482 1 0 MAGI2 9863 broad.mit.edu 37 7 78131003 78131003 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr7:78131003G>T uc003ugx.2 - 5 1110 c.856C>A c.(856-858)CAG>AAG p.Q286K MAGI2_uc003ugy.2_Missense_Mutation_p.Q286K|MAGI2_uc011kgr.1_Missense_Mutation_p.Q118K|MAGI2_uc011kgs.1_Missense_Mutation_p.Q123K NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ 286 cell junction|synapse|synaptosome phosphatase binding ovary(5)|lung(4)|breast(1)|skin(1) 11 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) TCATCCATCTGCTCCTTCAGC 0.507 NA 25 101 1.88708e-17 2.44337e-17 0.008361 1 0 CACNA2D1 781 broad.mit.edu 37 7 81964549 81964549 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr7:81964549C>A uc003uhr.1 - 3 452 c.196G>T c.(196-198)GAT>TAT p.D66Y NM_000722 NP_000713 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 66 Extracellular (Potential). voltage-gated calcium channel complex metal ion binding ovary(5)|pancreas(1) 6 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) GTATACAAATCTTGATATTTC 0.353 NA 16 97 0.000229342 0.000242508 0.001882 1 0 PCLO 27445 broad.mit.edu 37 7 82585203 82585203 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr7:82585203G>T uc003uhx.2 - 5 5355 c.5066C>A c.(5065-5067)ACA>AAA p.T1689K PCLO_uc003uhv.2_Missense_Mutation_p.T1689K NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 1620 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 ATACAAACTTGTTTTTTTCTG 0.428 NA 15 22 2.5808e-16 3.28204e-16 0.006122 1 0 SAMD9 54809 broad.mit.edu 37 7 92734038 92734038 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr7:92734038C>A uc003umf.2 - 3 1629 c.1373G>T c.(1372-1374)AGC>ATC p.S458I SAMD9_uc003umg.2_Missense_Mutation_p.S458I NM_017654 NP_060124 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 458 cytoplasm ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) TGCTACTCGGCTTTCTTTGTA 0.383 NA 9 42 1.08611e-07 1.2208e-07 0.000978 1 0 PPP1R9A 55607 broad.mit.edu 37 7 94540239 94540239 + Missense_Mutation SNP C C T rs140508899 TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr7:94540239C>T uc003unp.2 + 2 1096 c.814C>T c.(814-816)CAC>TAC p.H272Y PPP1R9A_uc010lfj.2_Missense_Mutation_p.H272Y|PPP1R9A_uc011kif.1_Missense_Mutation_p.H272Y|PPP1R9A_uc003unq.2_Missense_Mutation_p.H272Y|PPP1R9A_uc011kig.1_Missense_Mutation_p.H272Y NM_017650 NP_060120 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory (inhibitor) 272 cell junction|synapse|synaptosome actin binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) AGAGGATGCTCACAAGAGTAA 0.458 NA HNSCC(28;0.073) 32 38 0 0 0.009718 0 0 MUC17 140453 broad.mit.edu 37 7 100682038 100682038 + Silent SNP A A G rs142442389 byFrequency TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr7:100682038A>G uc003uxp.1 + 3 7394 c.7341A>G c.(7339-7341)CCA>CCG p.P2447P MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 2447 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|39. 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) CCAGCATACCAACCTCACCTC 0.537 NA 14 505 0 0 0.003163 0 0 PIK3CG 5294 broad.mit.edu 37 7 106509787 106509787 + Missense_Mutation SNP G G A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr7:106509787G>A uc003vdv.3 + 2 1866 c.1781G>A c.(1780-1782)AGT>AAT p.S594N PIK3CG_uc003vdu.2_Missense_Mutation_p.S594N|PIK3CG_uc003vdw.2_Missense_Mutation_p.S594N NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 594 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 AAGCTATTTAGTTCAGTGAAA 0.428 NA 32 80 0 0 0.005524 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518041 113518041 + Nonsense_Mutation SNP G G A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr7:113518041G>A uc010ljy.1 - 4 3137 c.3106C>T c.(3106-3108)CAA>TAA p.Q1036* NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 1036 glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 TATAGTGATTGCCCAGAGCTT 0.398 NA 215 310 0 0 0.00361 0 0 HYAL4 23553 broad.mit.edu 37 7 123509169 123509169 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr7:123509169G>T uc003vlc.2 + 3 1480 c.842G>T c.(841-843)CGG>CTG p.R281L HYAL4_uc011knz.1_Missense_Mutation_p.R281L NM_012269 NP_036401 Q2M3T9 HYAL4_HUMAN hyaluronoglucosaminidase 4 281 Extracellular (Potential). fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process integral to membrane hyalurononglucosaminidase activity skin(1) 1 TCCAAATTTCGGGTGCATGAA 0.443 NA 19 67 6.21321e-17 7.97246e-17 0.00278 1 0 GRM8 2918 broad.mit.edu 37 7 126173844 126173844 + Missense_Mutation SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr7:126173844C>T uc003vlr.2 - 8 1903 c.1592G>A c.(1591-1593)GGG>GAG p.G531E GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.G531E|GRM8_uc010lkz.1_RNA NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 531 Extracellular (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) GCAAGGGACCCCTTTCACCGT 0.552 NA HNSCC(24;0.065) 16 86 0 0 0.001882 0 0 KEL 3792 broad.mit.edu 37 7 142639572 142639572 + Silent SNP C C A rs140592001 byFrequency TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr7:142639572C>A uc003wcb.2 - 18 2196 c.1986G>T c.(1984-1986)CTG>CTT p.L662L NM_000420 NP_000411 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 662 Extracellular (Potential). proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(3)|central_nervous_system(1) 4 Melanoma(164;0.059) CCAGGCTGGGCAGGACAGTCT 0.587 NA 12 35 9.16793e-09 1.04908e-08 0.00499 1 0 OR2F2 135948 broad.mit.edu 37 7 143633237 143633237 + Silent SNP A A G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr7:143633237A>G uc011ktv.1 + 1 912 c.912A>G c.(910-912)CTA>CTG p.L304L NM_001004685 NP_001004685 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, 304 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 Melanoma(164;0.0903) GGCATAAACTATTAGAGAAAT 0.418 NA 16 63 0 0 0.001882 0 0 ZNF398 57541 broad.mit.edu 37 7 148876178 148876178 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr7:148876178G>T uc003wfl.2 + 6 1489 c.1214G>T c.(1213-1215)AGG>ATG p.R405M ZNF398_uc011kul.1_Missense_Mutation_p.R234M|ZNF398_uc011kum.1_Missense_Mutation_p.R410M NM_170686 NP_733787 Q8TD17 ZN398_HUMAN zinc finger 398 isoform a 405 C2H2-type 3. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00143) CACTGTGCCAGGACTTTTACT 0.582 NA 59 54 4.83248e-46 7.83906e-46 0.00361 1 0 MLL3 58508 broad.mit.edu 37 7 151919678 151919678 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr7:151919678G>T uc003wla.2 - 21 3632 c.3413C>A c.(3412-3414)CCC>CAC p.P1138H MLL3_uc003wkz.2_Missense_Mutation_p.P199H NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 1138 PHD-type 6. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) AGGCATATAGGGTCTGCACAT 0.398 Colon(68;14 1149 1884 27689 34759) NA N medulloblastoma 16 62 3.41278e-10 3.99324e-10 0.00499 1 0 ESYT2 57488 broad.mit.edu 37 7 158529746 158529746 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr7:158529746C>A uc003wob.1 - 19 2539 c.2473G>T c.(2473-2475)GAT>TAT p.D825Y ESYT2_uc003wny.1_RNA|ESYT2_uc003wnz.1_Missense_Mutation_p.D264Y|ESYT2_uc003woa.1_Missense_Mutation_p.D402Y NM_020728 NP_065779 A0FGR8 ESYT2_HUMAN family with sequence similarity 62 (C2 domain 853 C2 3. integral to membrane|plasma membrane central_nervous_system(2)|kidney(1) 3 TACCTTTGATCAAACACTGGA 0.463 NA 65 315 3.25985e-27 4.64183e-27 0.00361 1 0 TMEM66 51669 broad.mit.edu 37 8 29927564 29927564 + Silent SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr8:29927564C>T uc003xhs.2 - 3 478 c.294G>A c.(292-294)AAG>AAA p.K98K TMEM66_uc003xht.2_Silent_p.K98K|TMEM66_uc003xhu.2_Silent_p.K62K|TMEM66_uc003xhv.2_5'UTR NM_016127 NP_057211 Q96BY9 TMM66_HUMAN transmembrane protein 66 precursor 98 integral to membrane 0 KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119) CTAAGTCCGTCTTACATTCCC 0.318 NA 11 163 0 0 0.000978 0 0 ADAM32 203102 broad.mit.edu 37 8 39027483 39027483 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr8:39027483G>T uc003xmt.3 + 10 1127 c.882G>T c.(880-882)ATG>ATT p.M294I ADAM32_uc011lch.1_Missense_Mutation_p.M301I|ADAM32_uc003xmu.3_Missense_Mutation_p.M294I NM_145004 NP_659441 Q8TC27 ADA32_HUMAN a disintegrin and metalloprotease domain 32 294 Peptidase M12B.|Extracellular (Potential). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1)|kidney(1) 3 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) CTGGAACAATGTGTATTACTC 0.234 NA 64 38 1.11883e-47 1.83052e-47 0.00361 1 0 ANK1 286 broad.mit.edu 37 8 41552150 41552150 + Missense_Mutation SNP G G C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr8:41552150G>C uc003xok.2 - 28 3371 c.3287C>G c.(3286-3288)CCG>CGG p.P1096R NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.P412R|ANK1_uc003xoi.2_Missense_Mutation_p.P1096R|ANK1_uc003xoj.2_Missense_Mutation_p.P1096R|ANK1_uc003xol.2_Missense_Mutation_p.P1096R|ANK1_uc003xom.2_Missense_Mutation_p.P1137R NM_020476 NP_065209 P16157 ANK1_HUMAN ankyrin 1 isoform 1 1096 axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(3)|lung(2)|breast(1) 9 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GGCATTCTCCGGGAACGTTGC 0.632 NA 7 4 0 0 0.008291 0 0 PRKDC 5591 broad.mit.edu 37 8 48855770 48855770 + Missense_Mutation SNP T T A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr8:48855770T>A uc003xqi.2 - 10 1022 c.965A>T c.(964-966)CAG>CTG p.Q322L PRKDC_uc003xqj.2_Missense_Mutation_p.Q322L|PRKDC_uc011ldh.1_Missense_Mutation_p.Q322L NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 322 HEAT 1. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) TTGTGGTACCTGTTTCAGAAA 0.353 Esophageal Squamous(79;1091 1253 12329 31680 40677) NA NHEJ 22 8 0 0 0.009535 0 0 PXDNL 137902 broad.mit.edu 37 8 52370158 52370158 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr8:52370158G>T uc003xqu.3 - 9 983 c.882C>A c.(880-882)AAC>AAA p.N294K NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 294 Ig-like C2-type 1. 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) ACTCTCTGGTGTTTCGGATCA 0.443 NA 204 134 5.58888e-140 1.02284e-139 0.00361 1 0 XKR4 114786 broad.mit.edu 37 8 56436303 56436303 + Silent SNP A A T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr8:56436303A>T uc003xsf.2 + 3 1502 c.1470A>T c.(1468-1470)CCA>CCT p.P490P NM_052898 NP_443130 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related 490 Helical; (Potential). integral to membrane pancreas(2) 2 Epithelial(17;0.000117)|all cancers(17;0.000836) TTGCCATTCCAGCGCTGTGTG 0.453 NA 38 22 0 0 0.00361 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68208800 68208800 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr8:68208800C>A uc003xxo.1 - 5 895 c.505G>T c.(505-507)GGG>TGG p.G169W NM_006421 NP_006412 Q9Y6D6 BIG1_HUMAN brefeldin A-inhibited guanine 169 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1) 8 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) AGTACAGTCCCTTCATGAATT 0.318 NA 38 78 5.04308e-16 6.39911e-16 0.00623 1 0 C8orf84 157869 broad.mit.edu 37 8 73993266 73993266 + Missense_Mutation SNP C C G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr8:73993266C>G uc003xzf.2 - 2 602 c.397G>C c.(397-399)GGG>CGG p.G133R NM_153225 NP_694957 Q8IVN8 RPESP_HUMAN RPE-spondin precursor 133 immune response extracellular region polysaccharide binding|scavenger receptor activity 0 TAGGTGTGCCCGCAGTCCTGG 0.582 NA 18 260 0 0 0.005443 0 0 PI15 51050 broad.mit.edu 37 8 75737519 75737519 + Missense_Mutation SNP T T C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr8:75737519T>C uc003yal.2 + 2 214 c.35T>C c.(34-36)CTG>CCG p.L12P uc003yak.1_Intron|PI15_uc003yam.2_Missense_Mutation_p.L12P NM_015886 NP_056970 O43692 PI15_HUMAN protease inhibitor 15 preproprotein 12 extracellular region peptidase inhibitor activity central_nervous_system(2)|ovary(1) 3 Breast(64;0.137) BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118) AGTGCACTCCTGTTCTCCCTT 0.468 NA 157 262 0 0 0.00361 0 0 ZFHX4 79776 broad.mit.edu 37 8 77767417 77767417 + Missense_Mutation SNP A A G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr8:77767417A>G uc003yav.2 + 10 8512 c.8125A>G c.(8125-8127)ACA>GCA p.T2709A ZFHX4_uc003yau.1_Missense_Mutation_p.T2754A|ZFHX4_uc003yaw.1_Missense_Mutation_p.T2709A NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2709 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) TACAGTGTCAACACCTGTTAG 0.383 NA HNSCC(33;0.089) 28 43 0 0 0.005524 0 0 CNGB3 54714 broad.mit.edu 37 8 87738759 87738759 + Missense_Mutation SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr8:87738759C>T uc003ydx.2 - 3 384 c.338G>A c.(337-339)AGC>AAC p.S113N NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 113 Cytoplasmic (Potential). signal transduction|visual perception integral to membrane cGMP binding ovary(2)|pancreas(1) 3 AAATGCTCACCTGTTTGGACC 0.458 NA 68 122 0 0 0.00361 0 0 NBN 4683 broad.mit.edu 37 8 90982638 90982638 + Missense_Mutation SNP C C G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr8:90982638C>G uc003yej.1 - 7 960 c.850G>C c.(850-852)GAC>CAC p.D284H NBN_uc003yei.1_Missense_Mutation_p.D202H|NBN_uc011lgb.1_Missense_Mutation_p.D284H NM_002485 NP_002476 O60934 NBN_HUMAN nibrin 284 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm protein N-terminus binding|transcription factor binding central_nervous_system(3)|kidney(3)|lung(1) 7 BRCA - Breast invasive adenocarcinoma(11;0.0344) TTCTGACAGTCAGGAATTAAG 0.333 NA Direct_reversal_of_damage|Homologous_recombination Nijmegen_Breakage_syndrome 44 99 0 0 0.00361 0 0 KIAA1429 25962 broad.mit.edu 37 8 95522735 95522735 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr8:95522735C>A uc003ygo.1 - 14 3549 c.3536G>T c.(3535-3537)CGT>CTT p.R1179L KIAA1429_uc010maz.1_RNA NM_015496 NP_056311 Q69YN4 VIR_HUMAN hypothetical protein LOC25962 isoform 1 1179 mRNA processing|RNA splicing nucleus ovary(1)|skin(1) 2 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) AACACAAATACGCCGTAACAT 0.423 NA 73 133 1.32003e-40 2.09955e-40 0.00361 1 0 CSMD3 114788 broad.mit.edu 37 8 113392679 113392679 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr8:113392679G>T uc003ynu.2 - 38 6197 c.6038C>A c.(6037-6039)ACA>AAA p.T2013K CSMD3_uc003yns.2_Missense_Mutation_p.T1215K|CSMD3_uc003ynt.2_Missense_Mutation_p.T1973K|CSMD3_uc011lhx.1_Missense_Mutation_p.T1909K NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2013 Extracellular (Potential).|CUB 11. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 ATGGGGTATTGTTGTTCCTGA 0.318 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 46 101 7.91745e-34 1.1897e-33 0.00361 1 0 TRPS1 7227 broad.mit.edu 37 8 116617221 116617221 + Silent SNP T T A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr8:116617221T>A uc003ynz.2 - 3 1395 c.936A>T c.(934-936)TCA>TCT p.S312S TRPS1_uc011lhy.1_Silent_p.S316S|TRPS1_uc003yny.2_Silent_p.S325S|TRPS1_uc010mcy.2_Silent_p.S312S NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 312 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) ATGTTCCACCTGAAGTCACCT 0.463 NA Langer-Giedion_syndrome 53 92 0 0 0.00361 0 0 ENPP2 5168 broad.mit.edu 37 8 120580440 120580440 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr8:120580440C>A uc003yot.1 - 22 2192 c.2106G>T c.(2104-2106)ATG>ATT p.M702I ENPP2_uc011lic.1_Missense_Mutation_p.M240I|ENPP2_uc003yor.1_Missense_Mutation_p.M337I|ENPP2_uc003yos.1_Missense_Mutation_p.M754I|ENPP2_uc010mdd.1_Missense_Mutation_p.M727I NM_001040092 NP_001035181 Q13822 ENPP2_HUMAN autotaxin isoform 2 preproprotein 702 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1) 7 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) ACATTGGAACCATATTGGTTA 0.313 Melanoma(20;305 879 2501 4818 31020) NA 151 209 8.31651e-93 1.47935e-92 0.00361 1 0 FER1L6 654463 broad.mit.edu 37 8 125015557 125015557 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr8:125015557C>A uc003yqw.2 + 13 1876 c.1670C>A c.(1669-1671)CCG>CAG p.P557Q uc003yqx.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 557 Cytoplasmic (Potential). integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) ACCACTCACCCGGAGAAGCCA 0.522 NA 50 87 3.69863e-55 6.28548e-55 0.00361 1 0 KIAA0196 9897 broad.mit.edu 37 8 126061389 126061389 + Silent SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr8:126061389C>A uc003yrt.2 - 19 2567 c.2238G>T c.(2236-2238)GCG>GCT p.A746A KIAA0196_uc011lir.1_Silent_p.A598A|KIAA0196_uc003yru.1_Silent_p.A320A NM_014846 NP_055661 Q12768 STRUM_HUMAN strumpellin 746 cell death WASH complex ovary(2) 2 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) CATCCATGGTCGCTCCCAACT 0.398 NA 59 112 2.47556e-37 3.87273e-37 0.00361 1 0 ADCY8 114 broad.mit.edu 37 8 131795974 131795974 + Silent SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr8:131795974G>T uc003ytd.3 - 17 3487 c.3231C>A c.(3229-3231)ATC>ATA p.I1077I ADCY8_uc010mds.2_Silent_p.I946I NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 1077 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) AATGCTTGTTGATCTCCTGTA 0.502 NA HNSCC(32;0.087) 90 168 5.30932e-60 9.10397e-60 0.00361 1 0 KCNK9 51305 broad.mit.edu 37 8 140631035 140631035 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr8:140631035C>A uc003yvf.1 - 2 655 c.591G>T c.(589-591)TTG>TTT p.L197F KCNK9_uc003yvg.1_Missense_Mutation_p.L197F|KCNK9_uc003yve.1_RNA NM_016601 NP_057685 Q9NPC2 KCNK9_HUMAN potassium channel, subfamily K, member 9 197 integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity ovary(2)|lung(1) 3 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) CAATGGTAGTCAACGTGATGA 0.577 NA 29 72 1.8613e-05 2.01288e-05 0.004289 1 0 CNTLN 54875 broad.mit.edu 37 9 17298192 17298192 + Missense_Mutation SNP G G C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr9:17298192G>C uc003zmz.2 + 7 1014 c.988G>C c.(988-990)GAA>CAA p.E330Q CNTLN_uc003zmx.3_Missense_Mutation_p.E330Q|CNTLN_uc003zmy.2_Missense_Mutation_p.E330Q|CNTLN_uc010mio.2_Missense_Mutation_p.E9Q NM_017738 NP_060208 Q9NXG0 CNTLN_HUMAN centlein isoform 1 330 centriole|membrane two-component sensor activity pancreas(1) 1 GBM - Glioblastoma multiforme(50;6.14e-10) GCACAGGAAGGAACTGCAGGA 0.408 NA 37 41 0 0 0.00623 0 0 GNE 10020 broad.mit.edu 37 9 36246104 36246104 + Silent SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr9:36246104C>T uc010mlh.2 - 3 755 c.540G>A c.(538-540)TTG>TTA p.L180L CLTA_uc003zzf.1_Intron|GNE_uc010mlg.2_Silent_p.L180L|GNE_uc011lpl.1_Silent_p.L121L|GNE_uc010mli.2_Silent_p.L211L|GNE_uc010mlj.2_Silent_p.L175L NM_005476 NP_005467 Q9Y223 GLCNE_HUMAN UDP-N-acetylglucosamine-2-epimerase/N- 180 UDP-N-acetylglucosamine 2-epimerase. cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity 0 STAD - Stomach adenocarcinoma(86;0.228) GGCAGCCTGCCAAAAGGATGC 0.483 GBM(184;106 2118 20004 35750 50727) NA 5 136 0 0 0.001984 0 0 TRPM3 80036 broad.mit.edu 37 9 73235267 73235267 + Silent SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr9:73235267C>T uc004aid.2 - 15 2062 c.1818G>A c.(1816-1818)TTG>TTA p.L606L TRPM3_uc004ahu.2_Silent_p.L436L|TRPM3_uc004ahv.2_Silent_p.L408L|TRPM3_uc004ahw.2_Silent_p.L478L|TRPM3_uc004ahx.2_Silent_p.L465L|TRPM3_uc004ahy.2_Silent_p.L468L|TRPM3_uc004ahz.2_Silent_p.L455L|TRPM3_uc004aia.2_Silent_p.L453L|TRPM3_uc004aib.2_Silent_p.L443L|TRPM3_uc004aic.2_Silent_p.L606L NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 631 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 TTCCTCGCCTCAAGGGAATAT 0.348 NA 70 322 0 0 0.00361 0 0 TRPM3 80036 broad.mit.edu 37 9 73235278 73235278 + Missense_Mutation SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr9:73235278C>T uc004aid.2 - 15 2051 c.1807G>A c.(1807-1809)GAT>AAT p.D603N TRPM3_uc004ahu.2_Missense_Mutation_p.D433N|TRPM3_uc004ahv.2_Missense_Mutation_p.D405N|TRPM3_uc004ahw.2_Missense_Mutation_p.D475N|TRPM3_uc004ahx.2_Missense_Mutation_p.D462N|TRPM3_uc004ahy.2_Missense_Mutation_p.D465N|TRPM3_uc004ahz.2_Missense_Mutation_p.D452N|TRPM3_uc004aia.2_Missense_Mutation_p.D450N|TRPM3_uc004aib.2_Missense_Mutation_p.D440N|TRPM3_uc004aic.2_Missense_Mutation_p.D603N NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 628 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 AAGGGAATATCATCCTGTAAT 0.318 NA 59 316 0 0 0.00361 0 0 OSTF1 26578 broad.mit.edu 37 9 77752469 77752469 + Missense_Mutation SNP A A C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr9:77752469A>C uc004ajv.3 + 8 635 c.424A>C c.(424-426)ACA>CCA p.T142P OSTF1_uc004ajw.3_Missense_Mutation_p.T99P|OSTF1_uc004ajx.3_Missense_Mutation_p.T145P NM_012383 NP_036515 Q92882 OSTF1_HUMAN osteoclast stimulating factor 1 142 ANK 3. ossification|signal transduction cytoplasm identical protein binding skin(1) 1 GTTGGGAGATACAGCTTTGCA 0.393 NA 14 67 0 0 0.006122 0 0 TLE4 7091 broad.mit.edu 37 9 82242321 82242321 + Silent SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr9:82242321G>T uc004ald.2 + 6 1176 c.327G>T c.(325-327)CGG>CGT p.R109R TLE4_uc004alc.2_Silent_p.R116R|TLE4_uc010mpr.2_5'UTR|TLE4_uc004ale.2_5'UTR|TLE4_uc011lsq.1_Intron|TLE4_uc010mps.2_Silent_p.R109R|TLE4_uc004alf.2_Silent_p.R54R NM_007005 NP_008936 O60756 BCE1_HUMAN transducin-like enhancer protein 4 Error:Variant_position_missing_in_O60756_after_alignment lung(2)|ovary(1)|breast(1)|skin(1) 5 CTGTGGAACGGGCCAAGCAGG 0.453 NA 226 240 4.96009e-127 8.99115e-127 0.00361 1 0 TLE4 7091 broad.mit.edu 37 9 82336678 82336678 + Nonsense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr9:82336678G>T uc004ald.2 + 18 2785 c.1936G>T c.(1936-1938)GGA>TGA p.G646* TLE4_uc004alc.2_Nonsense_Mutation_p.G621*|TLE4_uc010mpr.2_Nonsense_Mutation_p.G500*|TLE4_uc004ale.2_Nonsense_Mutation_p.G258*|TLE4_uc011lsq.1_Nonsense_Mutation_p.G589*|TLE4_uc010mps.2_Nonsense_Mutation_p.G545*|TLE4_uc004alf.2_Nonsense_Mutation_p.G560* NM_007005 NP_008936 O60756 BCE1_HUMAN transducin-like enhancer protein 4 Error:Variant_position_missing_in_O60756_after_alignment lung(2)|ovary(1)|breast(1)|skin(1) 5 CCACACAGATGGAGCCAGCTG 0.473 NA 52 58 5.80444e-35 8.9095e-35 0.00361 1 0 C9orf79 286234 broad.mit.edu 37 9 90501607 90501607 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr9:90501607G>T uc004app.3 + 4 2240 c.2205G>T c.(2203-2205)GAG>GAT p.E735D C9orf79_uc004apo.1_Missense_Mutation_p.E547D NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN chromosome 9 open reading frame 79 735 integral to membrane ovary(3) 3 AAGACAAGGAGGCAGAAGGTG 0.547 NA 41 41 4.49093e-37 7.00635e-37 0.00361 1 0 Unknown 0 broad.mit.edu 37 9 90746326 90746326 + Silent SNP C C G rs149069834 by1000genomes TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr9:90746326C>G uc011lti.1 - 4 1655 c.1626G>C c.(1624-1626)GCG>GCC p.A542A SubName: Full=cDNA FLJ59639; NA CCTCAGAGGTCGCCCCCAGAA 0.517 NA 17 66 0 0 0.00278 0 0 NOL8 55035 broad.mit.edu 37 9 95072852 95072852 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr9:95072852C>A uc004arv.2 - 9 2915 c.2578G>T c.(2578-2580)GGC>TGC p.G860C NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Missense_Mutation_p.G92C|NOL8_uc011ltw.1_Missense_Mutation_p.G792C NM_017948 NP_060418 Q76FK4 NOL8_HUMAN nucleolar protein 8 860 DNA replication|positive regulation of cell growth nucleolus nucleotide binding|protein binding|RNA binding ovary(1) 1 CCAGCTCTGCCCTCAAACTGA 0.388 NA 123 456 1.9257e-63 3.33204e-63 0.00361 1 0 C9orf102 375748 broad.mit.edu 37 9 98678647 98678647 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr9:98678647G>T uc004avt.3 + 6 1510 c.1122G>T c.(1120-1122)AAG>AAT p.K374N C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_Missense_Mutation_p.K76N|C9orf102_uc010mry.1_Missense_Mutation_p.K76N|C9orf102_uc010mrz.2_Missense_Mutation_p.K185N NM_001010895 NP_001010895 Q5T890 RAD26_HUMAN RAD26L hypothetical protein 374 DNA repair nucleus ATP binding|ATP-dependent helicase activity|DNA binding 0 Acute lymphoblastic leukemia(62;0.0559) TTGCCAAAAAGATGTCTGGCT 0.453 NA 40 49 2.68985e-26 3.79236e-26 0.00361 1 0 CDC14B 8555 broad.mit.edu 37 9 99285924 99285924 + Missense_Mutation SNP C C G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr9:99285924C>G uc004awj.2 - 10 1482 c.1030G>C c.(1030-1032)GTC>CTC p.V344L CDC14B_uc004awk.2_Missense_Mutation_p.V344L|CDC14B_uc004awl.2_RNA|CDC14B_uc004awi.2_Missense_Mutation_p.V307L NM_033331 NP_201588 O60729 CC14B_HUMAN CDC14 homolog B isoform 2 344 B. activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint nucleolus|nucleoplasm protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(1) 1 Acute lymphoblastic leukemia(62;0.0559) CAGATCCTGACCCACGCAATG 0.527 NA 20 63 0 0 0.003954 0 0 ZNF510 22869 broad.mit.edu 37 9 99521121 99521121 + Missense_Mutation SNP A A G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr9:99521121A>G uc004awn.1 - 6 2180 c.1991T>C c.(1990-1992)TTA>TCA p.L664S ZNF510_uc004awo.1_Missense_Mutation_p.L664S NM_014930 NP_055745 Q9Y2H8 ZN510_HUMAN zinc finger protein 510 664 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Acute lymphoblastic leukemia(62;0.0527) CTTCTTACATAATTTCCCATA 0.363 NA 38 88 0 0 0.00361 0 0 TEX10 54881 broad.mit.edu 37 9 103088600 103088600 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr9:103088600C>A uc004bas.2 - 9 2178 c.1963G>T c.(1963-1965)GGG>TGG p.G655W TEX10_uc011lvf.1_Missense_Mutation_p.G494W|TEX10_uc011lvg.1_Missense_Mutation_p.G658W NM_017746 NP_060216 Q9NXF1 TEX10_HUMAN testis expressed 10 isoform 1 655 integral to membrane|MLL1 complex|nuclear membrane|nucleolus binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(62;0.0527) OV - Ovarian serous cystadenocarcinoma(323;0.157) TGCAGTATCCCGATAAGCATG 0.418 NA 38 137 5.34276e-22 7.33344e-22 0.00361 1 0 TMEFF1 8577 broad.mit.edu 37 9 103204311 103204311 + Missense_Mutation SNP G G C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr9:103204311G>C uc004bay.1 + 1 124 c.91G>C c.(91-93)GTG>CTG p.V31L C9orf30_uc004baw.2_Missense_Mutation_p.V31L|C9orf30_uc004bax.2_RNA NM_003692 NP_003683 Q8IYR6 TEFF1_HUMAN transmembrane protein with EGF-like and two Error:Variant_position_missing_in_Q8IYR6_after_alignment multicellular organismal development integral to membrane|plasma membrane 0 Acute lymphoblastic leukemia(62;0.0452) GTATAAATATGTGCTGGAATG 0.448 NA 12 37 0 0 0.001855 0 0 GRIN3A 116443 broad.mit.edu 37 9 104448937 104448937 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr9:104448937G>T uc004bbp.1 - 2 1846 c.1245C>A c.(1243-1245)AGC>AGA p.S415R GRIN3A_uc004bbq.1_Missense_Mutation_p.S415R NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, 415 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) AGTTCATCGTGCTGGGAATGA 0.478 NA 62 240 8.07507e-42 1.29519e-41 0.00361 1 0 KLF4 9314 broad.mit.edu 37 9 110248160 110248160 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr9:110248160C>A uc004bdh.2 - 4 2008 c.1387G>T c.(1387-1389)GCC>TCC p.A463S KLF4_uc004bdf.1_Missense_Mutation_p.A388S|KLF4_uc004bdg.2_Missense_Mutation_p.A438S NM_004235 NP_004226 O43474 KLF4_HUMAN Kruppel-like factor 4 (gut) 472 C2H2-type 2. fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter nucleus RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(2)|lung(1) 3 TCTGAGCGGGCGAATTTCCAT 0.493 NA 7 40 3.86212e-05 4.15305e-05 0.008291 1 0 RABGAP1 23637 broad.mit.edu 37 9 125748687 125748687 + Missense_Mutation SNP A A T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr9:125748687A>T uc011lzh.1 + 4 713 c.579A>T c.(577-579)GAA>GAT p.E193D RABGAP1_uc004bnl.3_RNA|RABGAP1_uc004bnm.1_Missense_Mutation_p.E193D NM_012197 NP_036329 Q9Y3P9 RBGP1_HUMAN RAB GTPase activating protein 1 193 PID. cell cycle centrosome|cytosol|microtubule associated complex Rab GTPase activator activity|tubulin binding ovary(3)|kidney(2) 5 ATGTGTCTGAAGGAATTGTGA 0.403 NA 183 214 0 0 0.00361 0 0 NR6A1 2649 broad.mit.edu 37 9 127300525 127300525 + Nonsense_Mutation SNP G G A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr9:127300525G>A uc004bor.1 - 6 848 c.670C>T c.(670-672)CAA>TAA p.Q224* NR6A1_uc004boq.1_Nonsense_Mutation_p.Q219*|NR6A1_uc010mwq.1_Nonsense_Mutation_p.Q220* NM_033334 NP_201591 Q15406 NR6A1_HUMAN nuclear receptor subfamily 6, group A, member 1 224 Sufficient for interaction with UIMC1 (By similarity). cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis transcription factor complex protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(3) 3 GGTATATATTGGTAATGTGGA 0.488 Esophageal Squamous(192;272 2884 6208 20560) NA 74 69 0 0 0.00361 0 0 COQ4 51117 broad.mit.edu 37 9 131087468 131087468 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr9:131087468G>T uc004bur.3 + 3 596 c.249G>T c.(247-249)AAG>AAT p.K83N TRUB2_uc004buq.1_5'Flank|COQ4_uc011max.1_Missense_Mutation_p.K83N|COQ4_uc004bus.2_Missense_Mutation_p.K59N|COQ4_uc010mxy.2_Missense_Mutation_p.K59N NM_016035 NP_057119 Q9Y3A0 COQ4_HUMAN coenzyme Q4 homolog precursor 83 ubiquinone biosynthetic process mitochondrial inner membrane 0 GCACCCTGAAGGTCCTCAGGG 0.527 NA 17 26 6.94344e-10 8.10778e-10 0.006122 1 0 NUP188 23511 broad.mit.edu 37 9 131731775 131731775 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr9:131731775G>T uc004bws.1 + 10 916 c.894G>T c.(892-894)CAG>CAT p.Q298H NM_015354 NP_056169 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 298 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1) 7 AGTTTGCGCAGGATGGGCTTA 0.423 NA 48 162 2.76378e-25 3.86794e-25 0.00361 1 0 QSOX2 169714 broad.mit.edu 37 9 139115927 139115927 + Silent SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr9:139115927C>T uc010nbi.2 - 4 548 c.510G>A c.(508-510)CAG>CAA p.Q170Q NM_181701 NP_859052 Q6ZRP7 QSOX2_HUMAN quiescin Q6 sulfhydryl oxidase 2 precursor 170 Thioredoxin. cell redox homeostasis extracellular region|integral to membrane|nuclear membrane|plasma membrane thiol oxidase activity ovary(1) 1 Myeloproliferative disorder(178;0.0511) Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07) CAATCATCGTCTGTCTGACTG 0.627 NA 16 25 0 0 0.007413 0 0 QSOX2 169714 broad.mit.edu 37 9 139115958 139115958 + Missense_Mutation SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr9:139115958C>T uc010nbi.2 - 4 517 c.479G>A c.(478-480)GGA>GAA p.G160E NM_181701 NP_859052 Q6ZRP7 QSOX2_HUMAN quiescin Q6 sulfhydryl oxidase 2 precursor 160 Thioredoxin. cell redox homeostasis extracellular region|integral to membrane|nuclear membrane|plasma membrane thiol oxidase activity ovary(1) 1 Myeloproliferative disorder(178;0.0511) Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07) TCGGTCAGGTCCTGCCGGAAG 0.657 NA 11 21 0 0 0.00245 0 0 PPP2R3B 28227 broad.mit.edu 37 X 308043 308043 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chrX:308043C>A uc004cpg.2 - 4 844 c.643G>T c.(643-645)GCC>TCC p.A215S PPP2R3B_uc011mha.1_Missense_Mutation_p.A54S NM_013239 NP_037371 Q9Y5P8 P2R3B_HUMAN protein phosphatase 2, regulatory subunit B'', 215 cell cycle arrest|protein dephosphorylation nucleus|protein phosphatase type 2A complex calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) ACGAACTTGGCCGCGTCGTCG 0.617 NA 5 29 0.00116845 0.00121527 0.001168 1 0 MXRA5 25878 broad.mit.edu 37 X 3235270 3235270 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chrX:3235270G>T uc004crg.3 - 6 6609 c.6452C>A c.(6451-6453)ACC>AAC p.T2151N NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 2151 Ig-like C2-type 6. extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) CCGCGGGGAGGTGCCCGTGAT 0.711 NA 18 4 8.24728e-16 1.04186e-15 0.004656 1 0 FRMPD4 9758 broad.mit.edu 37 X 12735148 12735148 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chrX:12735148C>A uc004cuz.1 + 15 3076 c.2570C>A c.(2569-2571)GCC>GAC p.A857D FRMPD4_uc011mij.1_Missense_Mutation_p.A849D NM_014728 NP_055543 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 857 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1) 13 CCCACCAGCGCCGAAGGCAAG 0.572 NA 76 63 5.64992e-62 9.71718e-62 0.00361 1 0 TLR8 51311 broad.mit.edu 37 X 12940213 12940213 + Silent SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chrX:12940213G>T uc004cve.2 + 2 3122 c.3054G>T c.(3052-3054)CTG>CTT p.L1018L TLR8_uc004cvd.2_Silent_p.L1036L NM_138636 NP_619542 Q9NR97 TLR8_HUMAN toll-like receptor 8 precursor 1018 Cytoplasmic (Potential).|TIR. cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity ovary(4)|lung(2)|large_intestine(1) 7 GGCAAACTCTGAGAAATGTGG 0.443 NA 8 242 2.17888e-05 2.35187e-05 0.006214 1 0 NHS 4810 broad.mit.edu 37 X 17746185 17746185 + Missense_Mutation SNP T T A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chrX:17746185T>A uc004cxx.2 + 6 4234 c.3896T>A c.(3895-3897)GTG>GAG p.V1299E NHS_uc011mix.1_Missense_Mutation_p.V1320E|NHS_uc004cxy.2_Missense_Mutation_p.V1143E|NHS_uc004cxz.2_Missense_Mutation_p.V1122E|NHS_uc004cya.2_Missense_Mutation_p.V1022E NM_198270 NP_938011 Q6T4R5 NHS_HUMAN Nance-Horan syndrome protein isoform 1 1299 nucleus skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 Hepatocellular(33;0.183) CCTGAATCTGTGGATGTAATC 0.438 NA 67 89 0 0 0.00361 0 0 FAM48B1 100130302 broad.mit.edu 37 X 24381889 24381889 + Missense_Mutation SNP G G A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chrX:24381889G>A uc011mjx.1 + 1 1012 c.1012G>A c.(1012-1014)GGA>AGA p.G338R NM_001136234 NP_001129706 hypothetical protein LOC100130302 kidney(1) 1 AGACCCTTTTGGATTTGCGTT 0.527 NA 90 59 0 0 0.00361 0 0 MAGEB2 4113 broad.mit.edu 37 X 30237624 30237624 + Missense_Mutation SNP A A T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chrX:30237624A>T uc004dbz.2 + 2 1030 c.927A>T c.(925-927)GAA>GAT p.E309D NM_002364 NP_002355 O15479 MAGB2_HUMAN melanoma antigen family B, 2 309 MAGE. protein binding ovary(1) 1 ATTACGAAGAAGCTTTGAAAG 0.498 NA 38 12 0 0 0.007835 0 0 FAM47A 158724 broad.mit.edu 37 X 34148608 34148608 + Silent SNP A A T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chrX:34148608A>T uc004ddg.2 - 1 1821 c.1788T>A c.(1786-1788)TCT>TCA p.S596S NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 596 ovary(4)|central_nervous_system(1) 5 GAAGAGAGTCAGAAACGCACT 0.453 NA 7 75 0 0 0.00308 0 0 TSPAN7 7102 broad.mit.edu 37 X 38525426 38525426 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chrX:38525426G>T uc004deg.3 + 2 202 c.133G>T c.(133-135)GGC>TGC p.G45C TSPAN7_uc011mkj.1_Missense_Mutation_p.G71C|TSPAN7_uc011mkk.1_Missense_Mutation_p.G62C|TSPAN7_uc004deh.2_5'UTR NM_004615 NP_004606 P41732 TSN7_HUMAN tetraspanin 7 45 Extracellular (Potential). interspecies interaction between organisms integral to plasma membrane ovary(1) 1 ACTTACTCTGGGCACCTATAT 0.502 NA 47 37 1.67211e-32 2.46712e-32 0.00361 1 0 ZNF157 7712 broad.mit.edu 37 X 47271905 47271905 + Nonsense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chrX:47271905G>T uc004dhr.1 + 4 502 c.433G>T c.(433-435)GAG>TAG p.E145* NM_003446 NP_003437 P51786 ZN157_HUMAN zinc finger protein 157 145 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 AGCCTTCCATGAGAAAACAGG 0.388 NA 109 75 6.95862e-65 1.21139e-64 0.00361 1 0 FTSJ1 24140 broad.mit.edu 37 X 48340805 48340805 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chrX:48340805C>A uc004djo.1 + 10 993 c.670C>A c.(670-672)CAG>AAG p.Q224K FTSJ1_uc004djl.2_Missense_Mutation_p.Q222K|FTSJ1_uc004djm.2_Missense_Mutation_p.Q224K|FTSJ1_uc004djn.1_Missense_Mutation_p.Q222K|FTSJ1_uc004djp.1_Missense_Mutation_p.Q222K|FTSJ1_uc011mlw.1_Missense_Mutation_p.Q87K NM_012280 NP_036412 Q9UET6 RRMJ1_HUMAN FtsJ homolog 1 isoform a 224 RNA methylation|rRNA processing methyltransferase activity|nucleic acid binding 0 AGATTTCAACCAGCTGGATGG 0.582 NA 6 45 8.12818e-05 8.67513e-05 0.001984 1 0 ZXDB 158586 broad.mit.edu 37 X 57620678 57620678 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chrX:57620678G>T uc004dvd.2 + 1 2410 c.2197G>T c.(2197-2199)GAC>TAC p.D733Y NM_007157 NP_009088 P98169 ZXDB_HUMAN zinc finger, X-linked, duplicated B 733 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding 0 GCTAACAGTGGACACAGATGC 0.502 NA 22 17 7.38237e-10 8.60272e-10 0.00632 1 0 ZXDA 7789 broad.mit.edu 37 X 57935364 57935364 + Silent SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chrX:57935364C>T uc004dve.2 - 1 1704 c.1491G>A c.(1489-1491)CTG>CTA p.L497L NM_007156 NP_009087 P98168 ZXDA_HUMAN zinc finger, X-linked, duplicated A 497 C2H2-type 8.|Required for interaction with ZXDC. positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 TGTGGCCTTTCAGATGTTCGG 0.542 NA 24 20 0 0 0.00632 0 0 FAM123B 139285 broad.mit.edu 37 X 63411404 63411404 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chrX:63411404G>T uc004dvo.2 - 2 2036 c.1763C>A c.(1762-1764)GCT>GAT p.A588D NM_152424 NP_689637 Q5JTC6 F123B_HUMAN family with sequence similarity 123B 588 Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane p.0?(40) kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1) 112 CCTGGCATGAGCTTCTCGGGC 0.607 NA 4 100 0.000602214 0.000629788 0.000602 1 0 TEX11 56159 broad.mit.edu 37 X 69964040 69964040 + Missense_Mutation SNP T T A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chrX:69964040T>A uc004dyl.2 - 11 929 c.767A>T c.(766-768)AAG>ATG p.K256M TEX11_uc004dym.2_Missense_Mutation_p.K241M NM_001003811 NP_001003811 Q8IYF3 TEX11_HUMAN testis expressed sequence 11 isoform 1 256 protein binding ovary(3)|breast(1)|skin(1) 5 Renal(35;0.156) AGTAGATTTCTTATCCATCTT 0.229 NA 15 10 0 0 0.002299 0 0 NLGN3 54413 broad.mit.edu 37 X 70375176 70375176 + Silent SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chrX:70375176C>T uc004dzd.1 + 4 890 c.690C>T c.(688-690)GTC>GTT p.V230V NLGN3_uc010nlb.1_Silent_p.V190V|NLGN3_uc004dzb.2_Silent_p.V210V|NLGN3_uc004dzc.2_Silent_p.V93V|NLGN3_uc011mps.1_Silent_p.V190V|NLGN3_uc004dze.2_Silent_p.V28V|NLGN3_uc011mpr.1_Silent_p.V190V NM_018977 NP_061850 Q9NZ94 NLGN3_HUMAN neuroligin 3 230 Extracellular (Potential). neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly cell surface|endocytic vesicle|integral to plasma membrane|synapse neurexin binding|receptor activity ovary(1) 1 Renal(35;0.156) ATGGCAATGTCATCGTCATCA 0.542 Esophageal Squamous(103;760 1488 16849 22250 40351) NA 36 199 0 0 0.00361 0 0 NLGN3 54413 broad.mit.edu 37 X 70375182 70375182 + Silent SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chrX:70375182C>T uc004dzd.1 + 4 896 c.696C>T c.(694-696)GTC>GTT p.V232V NLGN3_uc010nlb.1_Silent_p.V192V|NLGN3_uc004dzb.2_Silent_p.V212V|NLGN3_uc004dzc.2_Silent_p.V95V|NLGN3_uc011mps.1_Silent_p.V192V|NLGN3_uc004dze.2_Silent_p.V30V|NLGN3_uc011mpr.1_Silent_p.V192V NM_018977 NP_061850 Q9NZ94 NLGN3_HUMAN neuroligin 3 232 Extracellular (Potential). neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly cell surface|endocytic vesicle|integral to plasma membrane|synapse neurexin binding|receptor activity ovary(1) 1 Renal(35;0.156) ATGTCATCGTCATCACCCTCA 0.537 Esophageal Squamous(103;760 1488 16849 22250 40351) NA 41 198 0 0 0.00361 0 0 NLGN3 54413 broad.mit.edu 37 X 70375185 70375185 + Silent SNP C C T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chrX:70375185C>T uc004dzd.1 + 4 899 c.699C>T c.(697-699)ATC>ATT p.I233I NLGN3_uc010nlb.1_Silent_p.I193I|NLGN3_uc004dzb.2_Silent_p.I213I|NLGN3_uc004dzc.2_Silent_p.I96I|NLGN3_uc011mps.1_Silent_p.I193I|NLGN3_uc004dze.2_Silent_p.I31I|NLGN3_uc011mpr.1_Silent_p.I193I NM_018977 NP_061850 Q9NZ94 NLGN3_HUMAN neuroligin 3 233 Extracellular (Potential). neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly cell surface|endocytic vesicle|integral to plasma membrane|synapse neurexin binding|receptor activity ovary(1) 1 Renal(35;0.156) TCATCGTCATCACCCTCAACT 0.532 Esophageal Squamous(103;760 1488 16849 22250 40351) NA 44 196 0 0 0.00361 0 0 MAGEE2 139599 broad.mit.edu 37 X 75003586 75003586 + Missense_Mutation SNP A A G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chrX:75003586A>G uc004ecj.1 - 1 1486 c.1301T>C c.(1300-1302)GTA>GCA p.V434A NM_138703 NP_619648 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 434 MAGE 2. ovary(1)|skin(1) 2 CTTTCTCCCTACATCCACACT 0.453 NA 11 231 0 0 0.001855 0 0 TAF9B 51616 broad.mit.edu 37 X 77388927 77388927 + Missense_Mutation SNP G G A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chrX:77388927G>A uc004eda.2 - 6 571 c.500C>T c.(499-501)TCT>TTT p.S167F NM_015975 NP_057059 Q9HBM6 TAF9B_HUMAN transcription associated factor 9B 167 negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding 0 ATTTGGGACAGACACCGTTTG 0.418 NA 15 534 0 0 0.008871 0 0 CYLC1 1538 broad.mit.edu 37 X 83129105 83129105 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chrX:83129105G>T uc004eei.1 + 4 1410 c.1389G>T c.(1387-1389)AAG>AAT p.K463N CYLC1_uc004eeh.1_Missense_Mutation_p.K462N NM_021118 NP_066941 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head 463 6. cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity ovary(4)|skin(1) 5 ATGAAAAGAAGGGGAAGAAAG 0.353 NA 37 37 2.61675e-31 3.8312e-31 0.003214 1 0 CPXCR1 53336 broad.mit.edu 37 X 88009116 88009117 + Missense_Mutation DNP GG GG TT TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chrX:88009116_88009117GG>TT uc004efd.3 + 3 960_961 c.701_702GG>TT c.(700-702)AGG>ATT p.R234I CPXCR1_uc004efc.3_Missense_Mutation_p.R234I NM_033048 NP_149037 Q8N123 CPXCR_HUMAN CPX chromosome region, candidate 1 234 intracellular zinc ion binding ovary(3) 3 GCTATTGTGAGGTCTGTGCTCT 0.361 NA 22 28 0 0 0.004672 0 0 TCEAL6 158931 broad.mit.edu 37 X 101395859 101395859 + Missense_Mutation SNP C C A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chrX:101395859C>A uc004eiq.2 - 3 606 c.445G>T c.(445-447)GCT>TCT p.A149S NM_001006938 NP_001006939 Q6IPX3 TCAL6_HUMAN transcription elongation factor A (SII)-like 6 149 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1) 1 TCCTCCTGAGCCCTTGACACA 0.517 NA 127 84 2.48536e-91 4.40728e-91 0.00361 1 0 CT47B1 643311 broad.mit.edu 37 X 120008777 120008777 + Missense_Mutation SNP T T A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chrX:120008777T>A uc011muc.1 - 1 1003 c.748A>T c.(748-750)ACC>TCC p.T250S NM_001145718 NP_001139190 P0C2W7 CT47B_HUMAN cancer/testis antigen family 147, member B1 250 0 TCCTCTGAGGTCGGTTCCTCT 0.552 NA 17 8 0 0 0.00278 0 0 ODZ1 10178 broad.mit.edu 37 X 123518364 123518364 + Silent SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chrX:123518364G>T uc004euj.2 - 29 6460 c.6396C>A c.(6394-6396)CGC>CGA p.R2132R ODZ1_uc011muj.1_Silent_p.R2138R|ODZ1_uc010nqy.2_Silent_p.R2139R NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 2132 Extracellular (Potential).|YD 16. 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 ATATTACCATGCGGCCCACAT 0.398 NA 178 129 9.38108e-128 1.70592e-127 0.00361 1 0 RAP2C 57826 broad.mit.edu 37 X 131351048 131351048 + Missense_Mutation SNP G G T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chrX:131351048G>T uc004ewp.2 - 2 1033 c.249C>A c.(247-249)AGC>AGA p.S83R uc004ewr.1_5'Flank|RAP2C_uc004ewo.2_Missense_Mutation_p.S17R|RAP2C_uc010nrk.2_RNA|RAP2C_uc004ewq.3_Missense_Mutation_p.S83R NM_021183 NP_067006 Q9Y3L5 RAP2C_HUMAN RAP2C, member of RAS oncogene family precursor 83 negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity recycling endosome membrane GTP binding|GTPase activity ovary(1) 1 Acute lymphoblastic leukemia(192;0.000127) GATTAACCAGGCTATAAACCA 0.468 NA 3 52 0.00909568 0.00927435 0.009096 1 0 SPANXC 64663 broad.mit.edu 37 X 140335779 140335779 + Silent SNP G G A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chrX:140335779G>A uc004fbk.2 - 2 221 c.165C>T c.(163-165)TAC>TAT p.Y55Y SPANXC_uc004fbl.2_RNA NM_022661 NP_073152 Q9NY87 SPNXC_HUMAN sperm protein associated with the nucleus, X 55 cytoplasm|nucleus 0 Acute lymphoblastic leukemia(192;7.65e-05) CGTTCCTCCTGTAGCGAACCA 0.507 NA 5 144 0 0 0.004482 0 0 TMLHE 55217 broad.mit.edu 37 X 154774874 154774874 + Missense_Mutation SNP T T A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chrX:154774874T>A uc004fnn.2 - 2 230 c.64A>T c.(64-66)ATA>TTA p.I22L TMLHE_uc004fno.2_Missense_Mutation_p.I22L|TMLHE_uc004fnp.3_Missense_Mutation_p.I22L NM_018196 NP_060666 Q9NVH6 TMLH_HUMAN trimethyllysine hydroxylase, epsilon 22 carnitine biosynthetic process mitochondrial matrix iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity ovary(1) 1 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Succinic acid(DB00139)|Vitamin C(DB00126) GCCGGATATATGACTCCTCCC 0.468 NA 126 508 0 0 0.00361 0 0 VPS13D 55187 broad.mit.edu 37 1 12422832 12422833 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:12422832_12422833insC uc001atv.2 + 51 10339_10340 c.10198_10199insC c.(10198-10200)GCCfs p.A3400fs VPS13D_uc001atw.2_Frame_Shift_Ins_p.A3375fs|VPS13D_uc001atx.2_Frame_Shift_Ins_p.A2587fs NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 3399 A -> T (in Ref. 6; CAE46021). protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GGTCATCTTTGCCCCCCGTTAC 0.426 NA 14 849 --- --- --- --- NA NA NA NA NA CSF3R 1441 broad.mit.edu 37 1 36935322 36935323 + Frame_Shift_Ins INS - - G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:36935322_36935323insG uc001caw.1 - 11 1582_1583 c.1404_1405insC c.(1402-1407)CCCAGCfs p.P468fs CSF3R_uc001cat.1_Frame_Shift_Ins_p.P31fs|CSF3R_uc009vvc.1_Frame_Shift_Ins_p.P31fs|CSF3R_uc001cau.1_5'UTR|CSF3R_uc001cav.1_Frame_Shift_Ins_p.P468fs|CSF3R_uc001cax.1_Frame_Shift_Ins_p.P468fs|CSF3R_uc001cay.1_Frame_Shift_Ins_p.P468fs NM_000760 NP_000751 Q99062 CSF3R_HUMAN colony stimulating factor 3 receptor isoform a 468_469 Extracellular (Potential).|Fibronectin type-III 4. cell adhesion|defense response extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|ovary(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) Filgrastim(DB00099)|Pegfilgrastim(DB00019) TTGCTCGCGCTGGGGGGGCCCA 0.634 NA 8 205 --- --- --- --- NA NA NA NA NA FOXJ3 22887 broad.mit.edu 37 1 42657204 42657205 + Frame_Shift_Ins INS - - G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:42657204_42657205insG uc001che.2 - 11 1432_1433 c.1120_1121insC c.(1120-1122)CAGfs p.Q374fs FOXJ3_uc001chf.2_Frame_Shift_Ins_p.Q374fs|FOXJ3_uc001chg.2_Frame_Shift_Ins_p.Q374fs|FOXJ3_uc001chh.1_Frame_Shift_Ins_p.Q340fs NM_014947 NP_055762 Q9UPW0 FOXJ3_HUMAN forkhead box J3 374 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(2) 2 Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) TGTGTGCATCTGGGGGTGAGAC 0.584 NA 7 906 --- --- --- --- NA NA NA NA NA FAM151A 338094 broad.mit.edu 37 1 55081756 55081757 + Frame_Shift_Ins INS - - G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:55081756_55081757insG uc001cxn.2 - 3 483_484 c.351_352insC c.(349-354)CCCACTfs p.P117fs ACOT11_uc001cxm.1_Intron NM_176782 NP_788954 Q8WW52 F151A_HUMAN hypothetical protein LOC338094 117_118 integral to membrane 0 CTGTAGATAGTGGGGGGGTGTG 0.594 NA 13 248 --- --- --- --- NA NA NA NA NA FGGY 55277 broad.mit.edu 37 1 59812016 59812017 + Frame_Shift_Ins INS - - G rs145440779 by1000genomes TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:59812016_59812017insG uc001czi.3 + 4 623_624 c.411_412insG c.(409-414)GTCGGGfs p.V137fs FGGY_uc001czg.2_Frame_Shift_Ins_p.V25fs|FGGY_uc001czh.2_RNA|FGGY_uc009wac.2_Frame_Shift_Ins_p.V137fs|FGGY_uc001czj.3_Frame_Shift_Ins_p.V137fs|FGGY_uc001czk.3_Frame_Shift_Ins_p.V25fs|FGGY_uc001czl.3_Intron NM_018291 NP_060761 Q96C11 FGGY_HUMAN FGGY carbohydrate kinase domain containing 137_138 carbohydrate metabolic process|cell death|neuron homeostasis kinase activity|phosphotransferase activity, alcohol group as acceptor ovary(1) 1 all_cancers(7;7.36e-05) TCCAGTACGTCGGGGGGGTGAT 0.5 NA 14 215 --- --- --- --- NA NA NA NA NA EPHX4 253152 broad.mit.edu 37 1 92511121 92511122 + Frame_Shift_Ins INS - - G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:92511121_92511122insG uc001don.2 + 4 612_613 c.508_509insG c.(508-510)TGGfs p.W170fs NM_173567 NP_775838 Q8IUS5 EPHX4_HUMAN abhydrolase domain containing 7 170 integral to membrane hydrolase activity central_nervous_system(1) 1 TGGCCATGACTGGGGGGGCATG 0.386 GBM(140;473 1857 5172 22066 49719) NA 10 350 --- --- --- --- NA NA NA NA NA F3 2152 broad.mit.edu 37 1 95001694 95001695 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:95001694_95001695insC uc001dqr.2 - 3 417_418 c.238_239insG c.(238-240)AAAfs p.K80fs F3_uc001dqp.2_RNA|F3_uc001dqq.2_RNA|F3_uc001dqs.2_Frame_Shift_Ins_p.K80fs NM_001993 NP_001984 P13726 TF_HUMAN coagulation factor III precursor 80 Extracellular (Potential). activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade extracellular matrix|extracellular space|integral to membrane cell surface binding|phospholipid binding|protease binding central_nervous_system(1) 1 all_lung(203;0.00106)|Lung NSC(277;0.00475) all cancers(265;0.0232)|Epithelial(280;0.121) Coagulation factor VIIa(DB00036) GTAAAAGCATTTGCTTTTCCAA 0.446 Melanoma(40;358 1339 15970 39161) NA 13 340 --- --- --- --- NA NA NA NA NA ITGA10 8515 broad.mit.edu 37 1 145534121 145534122 + Frame_Shift_Ins INS - - C rs147270843 TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:145534121_145534122insC uc001eoa.2 + 14 1702_1703 c.1626_1627insC c.(1624-1629)GAACCCfs p.E542fs NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Frame_Shift_Ins_p.E411fs|ITGA10_uc009wiw.2_Frame_Shift_Ins_p.E399fs|ITGA10_uc010oyw.1_Frame_Shift_Ins_p.E487fs NM_003637 NP_003628 O75578 ITA10_HUMAN integrin, alpha 10 precursor 542_543 Extracellular (Potential).|FG-GAP 6. cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1) 8 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TTCAGCCAGAACCCCCCCAGGA 0.554 NA 8 244 --- --- --- --- NA NA NA NA NA TDRD10 126668 broad.mit.edu 37 1 154493907 154493908 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:154493907_154493908insC uc009wow.2 + 6 1159_1160 c.321_322insC c.(319-324)AGGCCCfs p.R107fs TDRD10_uc001ffd.2_Frame_Shift_Ins_p.R107fs|TDRD10_uc001ffe.2_Frame_Shift_Ins_p.R28fs NM_001098475 NP_001091945 Q5VZ19 TDR10_HUMAN tudor domain containing 10 isoform a 107_108 nucleotide binding|RNA binding ovary(1) 1 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) CAAGCAAAAGGCCCCCCAAGAG 0.52 NA 8 301 --- --- --- --- NA NA NA NA NA ASH1L 55870 broad.mit.edu 37 1 155491185 155491186 + Frame_Shift_Ins INS - - T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:155491185_155491186insT uc009wqq.2 - 2 605_606 c.125_126insA c.(124-126)AACfs p.N42fs ASH1L_uc001fkt.2_Frame_Shift_Ins_p.N42fs|ASH1L_uc009wqr.1_Frame_Shift_Ins_p.N42fs NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 42 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 11 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) CCTCCTTTGTGTTTTTTTCTAG 0.431 NA 9 1277 --- --- --- --- NA NA NA NA NA KIRREL 55243 broad.mit.edu 37 1 158058202 158058203 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:158058202_158058203insC uc001frn.3 + 8 1406_1407 c.1002_1003insC c.(1000-1005)AATCCCfs p.N334fs KIRREL_uc010pib.1_Frame_Shift_Ins_p.N234fs|KIRREL_uc009wsq.2_Frame_Shift_Ins_p.N170fs|KIRREL_uc001fro.3_Frame_Shift_Ins_p.N132fs NM_018240 NP_060710 Q96J84 KIRR1_HUMAN kin of IRRE like precursor 334_335 Extracellular (Potential).|Ig-like C2-type 4. integral to membrane ovary(1) 1 all_hematologic(112;0.0378) GGGTTGGGAATCCCCCCCTCAC 0.416 NA 8 270 --- --- --- --- NA NA NA NA NA CD1C 911 broad.mit.edu 37 1 158262099 158262100 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:158262099_158262100insC uc001fru.2 + 3 846_847 c.554_555insC c.(553-555)TGCfs p.C185fs CD1C_uc001frv.2_5'UTR NM_001765 NP_001756 P29017 CD1C_HUMAN CD1C antigen precursor 185 Extracellular (Potential). antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding ovary(2)|skin(1)|pancreas(1) 4 all_hematologic(112;0.0378) AGAAGCACTTGCCCCCGATTTC 0.45 NA 7 2000 --- --- --- --- NA NA NA NA NA OR10Z1 128368 broad.mit.edu 37 1 158576486 158576487 + Frame_Shift_Ins INS - - G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:158576486_158576487insG uc010pio.1 + 1 258_259 c.258_259insG c.(256-261)GCTGGGfs p.A86fs NM_001004478 NP_001004478 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, 86_87 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1)|skin(1) 2 all_hematologic(112;0.0378) CTGGCCTGGCTGGGGGGGACCA 0.554 NA 23 867 --- --- --- --- NA NA NA NA NA OR10Z1 128368 broad.mit.edu 37 1 158577072 158577073 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:158577072_158577073insC uc010pio.1 + 1 844_845 c.844_845insC c.(844-846)ACCfs p.T282fs NM_001004478 NP_001004478 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, 282 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1)|skin(1) 2 all_hematologic(112;0.0378) TACTGTAGTGACCCCCCTCCTT 0.46 NA 10 1276 --- --- --- --- NA NA NA NA NA XCL2 6846 broad.mit.edu 37 1 168510352 168510352 + Frame_Shift_Del DEL A A - TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:168510352delA uc001gfn.3 - 3 216 c.183delT c.(181-183)ATTfs p.I61fs NM_003175 NP_003166 Q9UBD3 XCL2_HUMAN chemokine (C motif) ligand 2 precursor 61 blood circulation|chemotaxis|immune response|signal transduction extracellular space chemokine activity ovary(1) 1 all_hematologic(923;0.215) CACGTTTGGTAATAAAACTGT 0.468 NA 22 406 --- --- --- --- NA NA NA NA NA XCL1 6375 broad.mit.edu 37 1 168550290 168550290 + Frame_Shift_Del DEL T T - TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:168550290delT uc001gfo.1 + 3 197 c.177delT c.(175-177)ATTfs p.I59fs NM_002995 NP_002986 P47992 XCL1_HUMAN chemokine (C motif) ligand 1 59 CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production extracellular space chemokine activity|protein homodimerization activity 0 all_hematologic(923;0.208) TGCGTTACAGTTTTATTACCA 0.463 NA 10 97 --- --- --- --- NA NA NA NA NA PAPPA2 60676 broad.mit.edu 37 1 176762723 176762724 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:176762723_176762724insC uc001gkz.2 + 20 6212_6213 c.5048_5049insC c.(5047-5049)ATCfs p.I1683fs PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1683 Sushi 5. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 TTGTGTGTAATCCCCCCCAGTG 0.47 NA 19 469 --- --- --- --- NA NA NA NA NA ATP2B4 493 broad.mit.edu 37 1 203667345 203667346 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:203667345_203667346insC uc001gzw.2 + 3 1138_1139 c.254_255insC c.(253-255)ATCfs p.I85fs ATP2B4_uc001gzv.2_Frame_Shift_Ins_p.I85fs|ATP2B4_uc009xaq.2_Frame_Shift_Ins_p.I85fs NM_001684 NP_001675 P23634 AT2B4_HUMAN plasma membrane calcium ATPase 4 isoform 4b 85 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding ovary(2)|skin(1) 3 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) CACAACGTGATCCCCCCCAAAA 0.48 NA 9 181 --- --- --- --- NA NA NA NA NA GOLT1A 127845 broad.mit.edu 37 1 204170835 204170836 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:204170835_204170836insC uc001has.1 - 3 407_408 c.221_222insG c.(220-222)GGTfs p.G74fs GOLT1A_uc001hat.1_Frame_Shift_Ins_p.G74fs NM_198447 NP_940849 Q6ZVE7 GOT1A_HUMAN golgi transport 1 homolog A 74 Helical; Name=3; (Potential). protein transport|vesicle-mediated transport Golgi membrane|integral to membrane 0 all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244) CGATAACCACACCCCCCAGGAG 0.545 NA 8 571 --- --- --- --- NA NA NA NA NA CR2 1380 broad.mit.edu 37 1 207642043 207642044 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:207642043_207642044insC uc001hfw.2 + 3 711_712 c.617_618insC c.(616-618)GTCfs p.V206fs CR2_uc001hfv.2_Frame_Shift_Ins_p.V206fs|CR2_uc009xch.2_Frame_Shift_Ins_p.V206fs|CR2_uc009xci.1_5'Flank NM_001877 NP_001868 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) 206 Sushi 3.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1) 8 TGGAGTGCTGTCCCCCCCACAT 0.396 NA 13 335 --- --- --- --- NA NA NA NA NA C1orf107 27042 broad.mit.edu 37 1 210014266 210014267 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:210014266_210014267insC uc001hhr.1 + 8 1427_1428 c.1351_1352insC c.(1351-1353)TCCfs p.S451fs C1orf107_uc009xcu.1_Frame_Shift_Ins_p.S166fs NM_014388 NP_055203 Q68CQ4 DIEXF_HUMAN digestive-organ expansion factor homolog 451 multicellular organismal development nucleus 0 OV - Ovarian serous cystadenocarcinoma(81;0.0367) CCTCATTGCTTCCCCCCTGGGC 0.465 NA 7 324 --- --- --- --- NA NA NA NA NA SIPA1L2 57568 broad.mit.edu 37 1 232650637 232650638 + Frame_Shift_Ins INS - - G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr1:232650637_232650638insG uc001hvg.2 - 1 606_607 c.448_449insC c.(448-450)CAAfs p.Q150fs NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 150 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) AAGTCCTCTTTGGGGGGAATGG 0.49 NA 7 525 --- --- --- --- NA NA NA NA NA ZEB1 6935 broad.mit.edu 37 10 31809832 31809833 + Frame_Shift_Ins INS - - G rs35708848 TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr10:31809832_31809833insG uc001ivs.3 + 7 1632_1633 c.1569_1570insG c.(1567-1572)GAAGGGfs p.E523fs ZEB1_uc001ivr.3_Frame_Shift_Ins_p.E305fs|ZEB1_uc010qee.1_Frame_Shift_Ins_p.E305fs|ZEB1_uc010qef.1_Frame_Shift_Ins_p.E305fs|ZEB1_uc009xlj.1_Frame_Shift_Ins_p.E449fs|ZEB1_uc010qeg.1_Frame_Shift_Ins_p.E382fs|ZEB1_uc009xlk.1_Frame_Shift_Ins_p.E305fs|ZEB1_uc001ivt.3_Frame_Shift_Ins_p.E305fs|ZEB1_uc001ivu.3_Frame_Shift_Ins_p.E524fs|ZEB1_uc001ivv.3_Frame_Shift_Ins_p.E503fs|ZEB1_uc010qeh.1_Frame_Shift_Ins_p.E456fs|ZEB1_uc009xlo.1_Frame_Shift_Ins_p.E506fs|ZEB1_uc009xlp.2_Frame_Shift_Ins_p.E507fs NM_030751 NP_110378 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 isoform b 523_524 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(3)|central_nervous_system(2) 5 Prostate(175;0.0156) AAAGCTTTGAAGGGGGGGTGAA 0.371 Ovarian(40;423 959 14296 36701 49589) NA 11 256 --- --- --- --- NA NA NA NA NA PARD3 56288 broad.mit.edu 37 10 34666941 34666942 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr10:34666941_34666942insC uc010qej.1 - 10 1492_1493 c.1492_1493insG c.(1492-1494)GCGfs p.A498fs PARD3_uc010qek.1_Frame_Shift_Ins_p.A498fs|PARD3_uc010qel.1_Frame_Shift_Ins_p.A498fs|PARD3_uc010qem.1_Frame_Shift_Ins_p.A498fs|PARD3_uc010qen.1_Frame_Shift_Ins_p.A498fs|PARD3_uc010qeo.1_Frame_Shift_Ins_p.A498fs|PARD3_uc010qep.1_Frame_Shift_Ins_p.A454fs|PARD3_uc010qeq.1_Frame_Shift_Ins_p.A454fs|PARD3_uc001ixo.1_Frame_Shift_Ins_p.A228fs|PARD3_uc001ixp.1_Frame_Shift_Ins_p.A363fs|PARD3_uc001ixq.1_Frame_Shift_Ins_p.A498fs|PARD3_uc001ixr.1_Frame_Shift_Ins_p.A498fs|PARD3_uc001ixt.1_Frame_Shift_Ins_p.A319fs|PARD3_uc001ixu.1_Frame_Shift_Ins_p.A454fs|PARD3_uc001ixs.1_Frame_Shift_Ins_p.A151fs NM_019619 NP_062565 Q8TEW0 PARD3_HUMAN partitioning-defective protein 3 homolog 498 PDZ 2. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding ovary(1) 1 Breast(68;0.0707) CTGAATGGCCGCCCCCCGGGGG 0.48 NA 7 154 --- --- --- --- NA NA NA NA NA AGAP7 653268 broad.mit.edu 37 10 51465345 51465346 + Frame_Shift_Ins INS - - G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr10:51465345_51465346insG uc001jio.2 - 7 1236_1237 c.1110_1111insC c.(1108-1113)CCCTCTfs p.P370fs PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron NM_001077685 NP_001071153 Q5VUJ5 AGAP7_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH 370_371 PH. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding 0 GCATGAGGAGAGGGGGGCGGGT 0.53 NA 15 74 --- --- --- --- NA NA NA NA NA SEC24C 9632 broad.mit.edu 37 10 75525559 75525560 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr10:75525559_75525560insC uc001juw.2 + 11 1547_1548 c.1368_1369insC c.(1366-1371)GTTCCCfs p.V456fs SEC24C_uc010qkn.1_Intron|SEC24C_uc009xrj.1_Frame_Shift_Ins_p.V314fs|SEC24C_uc001jux.2_Frame_Shift_Ins_p.V456fs|SEC24C_uc010qko.1_Frame_Shift_Ins_p.V337fs|SEC24C_uc010qkp.1_Intron|SEC24C_uc010qkq.1_Intron NM_004922 NP_004913 P53992 SC24C_HUMAN SEC24-related protein C 456_457 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|zinc ion binding skin(2)|central_nervous_system(1) 3 Prostate(51;0.0112) TTCCCACAGTTCCCCCCCAGTA 0.51 NA 18 371 --- --- --- --- NA NA NA NA NA MYST4 23522 broad.mit.edu 37 10 76790222 76790223 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr10:76790222_76790223insC uc001jwn.1 + 18 6133_6134 c.5640_5641insC c.(5638-5643)CCACCCfs p.P1880fs MYST4_uc001jwo.1_Frame_Shift_Ins_p.P1588fs|MYST4_uc001jwp.1_Frame_Shift_Ins_p.P1697fs NM_012330 NP_036462 Q8WYB5 MYST4_HUMAN MYST histone acetyltransferase (monocytic 1880_1881 Interaction with RUNX1 and RUNX2. histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1) 16 all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964) CCATGACCCCACCCCCCAACCT 0.535 NA T CREBBP AML 10 243 --- --- --- --- NA NA NA NA NA HECTD2 143279 broad.mit.edu 37 10 93272060 93272061 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr10:93272060_93272061insC uc001khl.2 + 21 2350_2351 c.2250_2251insC c.(2248-2253)CTTCCCfs p.L750fs LOC100188947_uc010qnl.1_Intron|HECTD2_uc010qnm.1_Frame_Shift_Ins_p.L754fs|HECTD2_uc001khm.2_RNA|HECTD2_uc009xty.1_Frame_Shift_Ins_p.L339fs|HECTD2_uc001khn.1_Frame_Shift_Ins_p.L400fs NM_182765 NP_877497 Q5U5R9 HECD2_HUMAN HECT domain containing 2 isoform a 750_751 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity skin(1) 1 AACTTTGCCTTCCCCCCTACAA 0.356 NSCLC(12;376 469 1699 39910 41417) NA 8 451 --- --- --- --- NA NA NA NA NA TLL2 7093 broad.mit.edu 37 10 98164994 98164995 + Frame_Shift_Ins INS - - G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr10:98164994_98164995insG uc001kml.1 - 10 1487_1488 c.1261_1262insC c.(1261-1263)CTTfs p.L421fs TLL2_uc009xvf.1_Frame_Shift_Ins_p.L399fs NM_012465 NP_036597 Q9Y6L7 TLL2_HUMAN tolloid-like 2 precursor 421 CUB 1. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) CTTACCCAAAAGGGGGGCTTTT 0.48 NA 7 494 --- --- --- --- NA NA NA NA NA BTRC 8945 broad.mit.edu 37 10 103310572 103310573 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr10:103310572_103310573insC uc001kta.2 + 14 1886_1887 c.1773_1774insC c.(1771-1776)GAACCCfs p.E591fs BTRC_uc001ktb.2_Frame_Shift_Ins_p.E555fs|BTRC_uc001ktc.2_Frame_Shift_Ins_p.E565fs NM_033637 NP_378663 Q9Y297 FBW1A_HUMAN beta-transducin repeat containing protein 591_592 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway cytosol|nucleus|SCF ubiquitin ligase complex ovary(1) 1 Colorectal(252;0.234) Epithelial(162;1.05e-08)|all cancers(201;6.59e-07) CCCAAGCTGAACCCCCCCGTTC 0.431 NA 9 352 --- --- --- --- NA NA NA NA NA TRUB1 142940 broad.mit.edu 37 10 116730191 116730192 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr10:116730191_116730192insC uc001lcd.2 + 5 649_650 c.588_589insC c.(586-591)GTGCCCfs p.V196fs TRUB1_uc010qsl.1_Frame_Shift_Ins_p.V98fs NM_139169 NP_631908 Q8WWH5 TRUB1_HUMAN TruB pseudouridine (psi) synthase homolog 1 196_197 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding 0 Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245) Epithelial(162;0.00879)|all cancers(201;0.0243) TAATGCAAGTGCCCCCCCTGTA 0.317 NA 12 183 --- --- --- --- NA NA NA NA NA OR51E1 143503 broad.mit.edu 37 11 4674216 4674217 + Frame_Shift_Ins INS - - G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr11:4674216_4674217insG uc001lzi.3 + 2 604_605 c.460_461insG c.(460-462)CGGfs p.R154fs NM_152430 NP_689643 Q8TCB6 O51E1_HUMAN olfactory receptor, family 51, subfamily E, 153 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|pancreas(1) 4 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19) TGCTGTGGTGCGGGGGGCTGCA 0.559 NA 29 926 --- --- --- --- NA NA NA NA NA OR52B6 340980 broad.mit.edu 37 11 5602545 5602546 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr11:5602545_5602546insC uc010qzi.1 + 1 439_440 c.439_440insC c.(439-441)TCCfs p.S147fs HBG2_uc001mak.1_Intron NM_001005162 NP_001005162 Q8NGF0 O52B6_HUMAN olfactory receptor, family 52, subfamily B, 147 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGCCATCTGCTCCCCCCTGCGA 0.51 NA 9 842 --- --- --- --- NA NA NA NA NA DCHS1 8642 broad.mit.edu 37 11 6662141 6662142 + Frame_Shift_Ins INS - - G rs143767864 byFrequency TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr11:6662141_6662142insG uc001mem.1 - 2 1113_1114 c.703_704insC c.(703-705)CGGfs p.R235fs NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 235 Cadherin 2.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGGGCCCTCCGGGGGGGTGAA 0.589 NA 8 86 --- --- --- --- NA NA NA NA NA DDB1 1642 broad.mit.edu 37 11 61093159 61093160 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr11:61093159_61093160insC uc001nrc.3 - 6 911_912 c.685_686insG c.(685-687)GCCfs p.A229fs DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Frame_Shift_Ins_p.A229fs|DDB1_uc010rlg.1_RNA|DDB1_uc001nrd.2_Frame_Shift_Ins_p.A229fs|DDB1_uc009ynl.1_Frame_Shift_Ins_p.A116fs NM_001923 NP_001914 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1 229 Interaction with CDT1. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding ovary(2)|lung(1)|central_nervous_system(1) 4 AATGATGATGGCCCCCCCAAAG 0.49 NA NER 7 82 --- --- --- --- NA NA NA NA NA CPSF7 79869 broad.mit.edu 37 11 61183884 61183885 + Frame_Shift_Ins INS - - G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr11:61183884_61183885insG uc001nrq.2 - 6 791_792 c.657_658insC c.(655-660)CCCAGTfs p.P219fs CPSF7_uc001nro.2_Frame_Shift_Ins_p.P210fs|CPSF7_uc001nrp.2_Frame_Shift_Ins_p.P262fs|CPSF7_uc001nrr.2_Frame_Shift_Ins_p.P210fs|CPSF7_uc001nrs.1_Frame_Shift_Ins_p.P120fs NM_001136040 NP_001129512 Q8N684 CPSF7_HUMAN pre-mRNA cleavage factor I, 59 kDa subunit 219_220 Pro-rich. mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription mRNA cleavage factor complex nucleotide binding|protein binding|RNA binding central_nervous_system(1) 1 GGCAGCACACTGGGGGGCTTAT 0.594 NA 10 532 --- --- --- --- NA NA NA NA NA BSCL2 26580 broad.mit.edu 37 11 62458782 62458783 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr11:62458782_62458783insC uc001nuo.1 - 7 1206_1207 c.782_783insG c.(781-783)GGCfs p.G261fs LRRN4CL_uc001nun.2_5'Flank|BSCL2_uc009yoc.1_Intron|BSCL2_uc001nup.2_Frame_Shift_Ins_p.G261fs|BSCL2_uc001nuq.1_Frame_Shift_Ins_p.G261fs|BSCL2_uc001nur.3_Frame_Shift_Ins_p.G325fs|BSCL2_uc009yod.2_Frame_Shift_Ins_p.G325fs|BSCL2_uc001nut.3_Frame_Shift_Ins_p.G325fs|HNRNPUL2_uc001nuu.1_RNA NM_032667 NP_116056 Q96G97 BSCL2_HUMAN seipin isoform 2 261 Helical; (Potential). cell death integral to endoplasmic reticulum membrane 0 GGGGCCAGATGCCCCCCCACAC 0.559 NA 7 140 --- --- --- --- NA NA NA NA NA NCAM1 4684 broad.mit.edu 37 11 113076860 113076861 + Frame_Shift_Ins INS - - G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr11:113076860_113076861insG uc009yyq.1 + 5 926_927 c.232_233insG c.(232-234)CGGfs p.R78fs NCAM1_uc001pno.2_Frame_Shift_Ins_p.R78fs NM_001076682 NP_001070150 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 isoform 3 196 Ig-like C2-type 2.|Extracellular (Potential). axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane ovary(1) 1 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) AATCCTGGCACGGGGGGAGATC 0.495 NA 11 752 --- --- --- --- NA NA NA NA NA MLL 4297 broad.mit.edu 37 11 118344185 118344186 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr11:118344185_118344186insC uc001pta.2 + 3 2334_2335 c.2311_2312insC c.(2311-2313)ACCfs p.T771fs MLL_uc001ptb.2_Frame_Shift_Ins_p.T771fs|MLL_uc001psz.1_Frame_Shift_Ins_p.T804fs|MLL_uc001ptd.1_Intron NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 771 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) CTCACCTCTCACCCCCCCGTCT 0.45 NA T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL 9 196 --- --- --- --- NA NA NA NA NA JAM3 83700 broad.mit.edu 37 11 134018467 134018468 + Frame_Shift_Ins INS - - G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr11:134018467_134018468insG uc001qhb.1 + 7 897_898 c.873_874insG c.(871-876)ATTGGGfs p.I291fs JAM3_uc009zcz.1_Frame_Shift_Ins_p.I240fs NM_032801 NP_116190 Q9BX67 JAM3_HUMAN junctional adhesion molecule 3 precursor 246_247 Helical; (Potential). angiogenesis|blood coagulation|regulation of neutrophil chemotaxis cell-cell contact zone|desmosome|extracellular space|integral to membrane integrin binding ovary(1) 1 all_hematologic(175;0.127) all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566) Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245) GCGGAATTATTGGGGGGGTTCT 0.485 NA 9 205 --- --- --- --- NA NA NA NA NA C1S 716 broad.mit.edu 37 12 7177938 7177939 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr12:7177938_7177939insC uc001qsj.2 + 15 2769_2770 c.2050_2051insC c.(2050-2052)ACCfs p.T684fs C1S_uc001qsk.2_Frame_Shift_Ins_p.T684fs|C1S_uc001qsl.2_Frame_Shift_Ins_p.T684fs|C1S_uc009zfr.2_Frame_Shift_Ins_p.T517fs|C1S_uc009zfs.2_RNA NM_201442 NP_958850 P09871 C1S_HUMAN complement component 1, s subcomponent 684 complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity skin(1) 1 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) GGAAAATAGCACCCCCCGTGAG 0.49 GBM(156;750 1943 12971 24779 31015) NA 11 655 --- --- --- --- NA NA NA NA NA CLSTN3 9746 broad.mit.edu 37 12 7288059 7288060 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr12:7288059_7288060insC uc001qsr.2 + 4 798_799 c.520_521insC c.(520-522)TCCfs p.S174fs CLSTN3_uc001qss.2_Frame_Shift_Ins_p.S186fs NM_014718 NP_055533 Q9BQT9 CSTN3_HUMAN calsyntenin 3 precursor 174 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding large_intestine(1) 1 CGGTGACTGCTCCCCCCAGTAC 0.574 NA 10 1253 --- --- --- --- NA NA NA NA NA HEBP1 50865 broad.mit.edu 37 12 13142224 13142225 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr12:13142224_13142225insC uc001rbd.2 - 2 376_377 c.203_204insG c.(202-204)GGCfs p.G68fs HEBP1_uc001rbf.2_Frame_Shift_Ins_p.G68fs NM_015987 NP_057071 Q9NRV9 HEBP1_HUMAN heme binding protein 1 68 circadian rhythm extracellular region breast(1) 1 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.153) TGTCATTGGTGCCCCCCGCATA 0.554 NA 10 958 --- --- --- --- NA NA NA NA NA GRIN2B 2904 broad.mit.edu 37 12 14019043 14019044 + Frame_Shift_Ins INS - - G rs77738206 TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr12:14019043_14019044insG uc001rbt.2 - 2 278_279 c.99_100insC c.(97-102)CCCAGCfs p.P33fs NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 33_34 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ATGCCAATGCTGGGGGGGCTCT 0.589 NA 9 163 --- --- --- --- NA NA NA NA NA H3F3C 440093 broad.mit.edu 37 12 31945092 31945093 + Frame_Shift_Ins INS - - A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr12:31945092_31945093insA uc001rkr.2 - 1 83_84 c.8_9insT c.(7-9)CGAfs p.R3fs NM_001013699 NP_001013721 Q6NXT2 H3C_HUMAN histone H3-like 3 nucleosome assembly nucleosome|nucleus DNA binding 0 TCTGCTTGGTTCGGGCCATTTT 0.609 NA HNSCC(67;0.2) 19 40 --- --- --- --- NA NA NA NA NA PDE1B 5153 broad.mit.edu 37 12 54971059 54971060 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr12:54971059_54971060insC uc001sgd.1 + 15 1724_1725 c.1558_1559insC c.(1558-1560)GCCfs p.A520fs PDE1B_uc010soz.1_Frame_Shift_Ins_p.A383fs|PDE1B_uc010spa.1_Frame_Shift_Ins_p.A479fs|PDE1B_uc001sgf.2_Frame_Shift_Ins_p.A383fs|PDE1B_uc001sge.2_Frame_Shift_Ins_p.A500fs|PDE1B_uc009znq.2_Frame_Shift_Ins_p.A316fs NM_000924 NP_000915 Q01064 PDE1B_HUMAN phosphodiesterase 1B isoform 1 520 activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding upper_aerodigestive_tract(1)|ovary(1) 2 TGAAGAAGAGGCCCCCCCATCC 0.559 NA 10 338 --- --- --- --- NA NA NA NA NA DGKA 1606 broad.mit.edu 37 12 56347513 56347514 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr12:56347513_56347514insC uc001sij.2 + 24 2433_2434 c.2169_2170insC c.(2167-2172)CCACCCfs p.P723fs DGKA_uc001sik.2_Frame_Shift_Ins_p.P723fs|DGKA_uc001sil.2_Frame_Shift_Ins_p.P723fs|DGKA_uc001sim.2_Frame_Shift_Ins_p.P723fs|DGKA_uc001sin.2_Frame_Shift_Ins_p.P723fs|DGKA_uc009zof.2_Frame_Shift_Ins_p.P369fs|DGKA_uc001sio.2_Frame_Shift_Ins_p.P465fs NM_001345 NP_001336 P23743 DGKA_HUMAN diacylglycerol kinase, alpha 80kDa 723_724 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity ovary(3)|pancreas(1) 4 Vitamin E(DB00163) TCATGGGCCCACCCCCCCGCTC 0.579 NA 9 308 --- --- --- --- NA NA NA NA NA DCTN2 10540 broad.mit.edu 37 12 57927805 57927806 + Frame_Shift_Ins INS - - G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr12:57927805_57927806insG uc001som.1 - 7 731_732 c.599_600insC c.(598-600)CCAfs p.P200fs DCTN2_uc009zpu.1_Frame_Shift_Ins_p.P205fs|DCTN2_uc009zpv.1_Frame_Shift_Ins_p.P113fs|DCTN2_uc009zpw.1_Frame_Shift_Ins_p.P113fs|DCTN2_uc001soo.1_RNA|DCTN2_uc001son.1_Frame_Shift_Ins_p.P113fs|DCTN2_uc001sop.1_Frame_Shift_Ins_p.P113fs|DCTN2_uc001soq.1_RNA|DCTN2_uc009zpx.1_Frame_Shift_Ins_p.P200fs NM_006400 NP_006391 Q13561 DCTN2_HUMAN dynactin 2 200 cell proliferation|G2/M transition of mitotic cell cycle|mitosis centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle motor activity|protein binding ovary(1) 1 GGCTGCTATCTGGGGGGGTCCC 0.5 NA 7 99 --- --- --- --- NA NA NA NA NA TMTC3 160418 broad.mit.edu 37 12 88553910 88553910 + Frame_Shift_Del DEL G G - TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr12:88553910delG uc001tau.2 + 5 748 c.528delG c.(526-528)TTGfs p.L176fs TMTC3_uc009zsm.2_RNA NM_181783 NP_861448 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat 176 Helical; (Potential). integral to membrane binding skin(1) 1 CAATTGCCTTGACAGTGTTTT 0.308 NA 155 321 --- --- --- --- NA NA NA NA NA PLA2G1B 5319 broad.mit.edu 37 12 120763693 120763694 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr12:120763693_120763694insC uc001tyd.2 - 2 200_201 c.164_165insG c.(163-165)GGCfs p.G55fs PLA2G1B_uc009zwx.2_Frame_Shift_Ins_p.G55fs NM_000928 NP_000919 P04054 PA21B_HUMAN phospholipase A2 group IB precursor 55 actin filament organization|activation of MAPK activity|activation of phospholipase A2 activity|arachidonic acid secretion|cellular response to insulin stimulus|glucose transport|interleukin-8 production|leukotriene biosynthetic process|multicellular organismal lipid catabolic process|neutrophil chemotaxis|neutrophil mediated immunity|phosphatidylcholine metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of DNA replication|positive regulation of immune response|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein secretion|positive regulation of transcription from RNA polymerase II promoter extracellular space bile acid binding|calcium ion binding|calcium-dependent phospholipase A2 activity|cell surface binding|receptor binding skin(1) 1 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGGTGCCTGAGCCCCCCAAGCC 0.604 NSCLC(64;1781 1795 22266 42732)|Esophageal Squamous(30;459 829 25326 35148) NA OREG0022189 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 195 --- --- --- --- NA NA NA NA NA MSI1 4440 broad.mit.edu 37 12 120800902 120800903 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr12:120800902_120800903insC uc001tye.1 - 6 409_410 c.345_346insG c.(343-348)GGGCTGfs p.G115fs NM_002442 NP_002433 O43347 MSI1H_HUMAN musashi 1 115_116 RRM 2. nervous system development cytoplasm|nucleus nucleotide binding central_nervous_system(2)|breast(1) 3 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TTCACCGACAGCCCCCCCACAA 0.564 NA 7 151 --- --- --- --- NA NA NA NA NA PGAM5 192111 broad.mit.edu 37 12 133294121 133294121 + Frame_Shift_Del DEL C C - TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr12:133294121delC uc009zyv.2 + 3 494 c.467delC c.(466-468)ACCfs p.T156fs PGAM5_uc010tbr.1_RNA|PGAM5_uc001uku.2_Frame_Shift_Del_p.T156fs NM_138575 NP_612642 Q96HS1 PGAM5_HUMAN phosphoglycerate mutase family member 5 156 integral to membrane|mitochondrial outer membrane phosphoprotein phosphatase activity 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06) GCCATAGAGACCACCGATATC 0.632 NA 2 4 --- --- --- --- NA NA NA NA NA ATP12A 479 broad.mit.edu 37 13 25262563 25262564 + Frame_Shift_Ins INS - - G rs35191129 TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr13:25262563_25262564insG uc001upp.2 + 4 522_523 c.335_336insG c.(334-336)GTGfs p.V112fs ATP12A_uc010aaa.2_Frame_Shift_Ins_p.V112fs NM_001676 NP_001667 P54707 AT12A_HUMAN hydrogen/potassium-exchanging ATPase 12A 112 Helical; (Potential). ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1) 6 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) AAGCAGATGGTGGGGGGGTTCT 0.584 Pancreas(156;1582 1935 18898 22665 26498) NA 21 697 --- --- --- --- NA NA NA NA NA KBTBD6 89890 broad.mit.edu 37 13 41705321 41705322 + Frame_Shift_Ins INS - - C rs147771080 TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr13:41705321_41705322insC uc001uxu.1 - 1 1615_1616 c.1326_1327insG c.(1324-1329)GGGCGAfs p.G442fs KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Frame_Shift_Ins_p.G376fs|uc001uxv.1_5'Flank NM_152903 NP_690867 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain-containing 6 442_443 Kelch 2. protein binding ovary(1)|skin(1) 2 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) ATAGGGTCTCGCCCCCCCAAAA 0.47 NA 8 235 --- --- --- --- NA NA NA NA NA TEP1 7011 broad.mit.edu 37 14 20852646 20852647 + Frame_Shift_Ins INS - - C rs144584331 TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr14:20852646_20852647insC uc001vxe.2 - 23 3282_3283 c.3242_3243insG c.(3241-3243)GGTfs p.G1081fs TEP1_uc010ahk.2_Frame_Shift_Ins_p.G431fs|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Frame_Shift_Ins_p.G973fs|TEP1_uc010tlh.1_5'Flank NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 1081 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding ovary(5) 5 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) CAGCTGCCACACCCCCCCACTC 0.584 NA 14 245 --- --- --- --- NA NA NA NA NA FLJ10357 55701 broad.mit.edu 37 14 21546603 21546604 + Frame_Shift_Ins INS - - G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr14:21546603_21546604insG uc001vzp.2 + 10 2231_2232 c.2202_2203insG c.(2200-2205)GATGGGfs p.D734fs FLJ10357_uc001vzo.1_Intron|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_Frame_Shift_Ins_p.D20fs NM_018071 NP_060541 Q8TER5 ARH40_HUMAN hypothetical protein LOC55701 734_735 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity 0 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08) GBM - Glioblastoma multiforme(265;0.0197) TGCAGAGGGATGGGGGGGCCAT 0.629 NA 13 259 --- --- --- --- NA NA NA NA NA CHD8 57680 broad.mit.edu 37 14 21896303 21896304 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr14:21896303_21896304insC uc001was.1 - 4 582_583 c.488_489insG c.(487-489)GGAfs p.G163fs CHD8_uc001war.1_Frame_Shift_Ins_p.G59fs NM_020920 NP_065971 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 442 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1) 10 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) TTCCTGTCTTTCCCCCCGAATG 0.54 NA 8 532 --- --- --- --- NA NA NA NA NA SALL2 6297 broad.mit.edu 37 14 21992275 21992276 + Frame_Shift_Ins INS - - G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr14:21992275_21992276insG uc001wbe.2 - 2 1868_1869 c.1586_1587insC c.(1585-1587)CCAfs p.P529fs SALL2_uc010tly.1_Frame_Shift_Ins_p.P527fs|SALL2_uc010tlz.1_Frame_Shift_Ins_p.P392fs|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Frame_Shift_Ins_p.P394fs|SALL2_uc001wbg.1_Intron NM_005407 NP_005398 Q9Y467 SALL2_HUMAN sal-like 2 529 DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|large_intestine(1) 3 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) CCTCACTCCCTGGGGGGGTGTT 0.53 NA 14 258 --- --- --- --- NA NA NA NA NA OR10G2 26534 broad.mit.edu 37 14 22102924 22102925 + Frame_Shift_Ins INS - - G rs150140072 TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr14:22102924_22102925insG uc010tmc.1 - 1 74_75 c.74_75insC c.(73-75)CCAfs p.P25fs NM_001005466 NP_001005466 Q8NGC3 O10G2_HUMAN olfactory receptor, family 10, subfamily G, 25 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) TTCTTAGATTTGGGGGGTGAGA 0.48 NA 9 414 --- --- --- --- NA NA NA NA NA AKAP6 9472 broad.mit.edu 37 14 32902724 32902725 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr14:32902724_32902725insC uc001wrq.2 + 2 195_196 c.25_26insC c.(25-27)TCCfs p.S9fs AKAP6_uc010aml.2_Frame_Shift_Ins_p.S6fs NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 9 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) CGTGACACTTTCCCCCCTGAGG 0.505 Melanoma(49;821 1200 7288 13647 42351) NA 8 971 --- --- --- --- NA NA NA NA NA KCNH5 27133 broad.mit.edu 37 14 63174302 63174303 + Frame_Shift_Ins INS - - G rs35940222 TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr14:63174302_63174303insG uc001xfx.2 - 11 2941_2942 c.2890_2891insC c.(2890-2892)CAGfs p.Q964fs KCNH5_uc001xfy.2_3'UTR NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, 964 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity ovary(4)|skin(4)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) ACATGGTATCTGGGGGGGTACT 0.381 NA 10 210 --- --- --- --- NA NA NA NA NA YLPM1 56252 broad.mit.edu 37 14 75248518 75248519 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr14:75248518_75248519insC uc001xqj.3 + 4 1896_1897 c.1772_1773insC c.(1771-1773)CTCfs p.L591fs YLPM1_uc001xql.3_RNA NM_019589 NP_062535 P49750 YLPM1_HUMAN YLP motif containing 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck ovary(2)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) CCACCAGTTCTCCCCCCACCTT 0.599 NA 7 341 --- --- --- --- NA NA NA NA NA OR4M2 390538 broad.mit.edu 37 15 22369023 22369024 + Frame_Shift_Ins INS - - G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr15:22369023_22369024insG uc010tzu.1 + 1 448_449 c.448_449insG c.(448-450)AGGfs p.R150fs LOC727924_uc001yua.2_RNA|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, 150 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TCTCTCCTGGAGGGGGGGCTTC 0.5 NA 15 406 --- --- --- --- NA NA NA NA NA MAPKBP1 23005 broad.mit.edu 37 15 42092080 42092080 + Frame_Shift_Del DEL C C - TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr15:42092080delC uc001zok.3 + 3 460 c.174delC c.(172-174)GACfs p.D58fs MAPKBP1_uc001zoj.3_Frame_Shift_Del_p.D58fs|MAPKBP1_uc010bcj.2_5'UTR|MAPKBP1_uc010bci.2_Frame_Shift_Del_p.D58fs|MAPKBP1_uc010udb.1_Intron|MAPKBP1_uc010bck.2_5'UTR NM_001128608 NP_001122080 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 58 central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 10 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) TTGCCTGTGACCCCCGATCAG 0.502 NA 80 227 --- --- --- --- NA NA NA NA NA PRTG 283659 broad.mit.edu 37 15 55912218 55912219 + Frame_Shift_Ins INS - - G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr15:55912218_55912219insG uc002adg.2 - 20 3492_3493 c.3444_3445insC c.(3442-3447)CCCAACfs p.P1148fs NM_173814 NP_776175 Q2VWP7 PRTG_HUMAN protogenin precursor 1148_1149 multicellular organismal development integral to membrane large_intestine(1)|ovary(1)|skin(1) 3 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) AATCAGAGGTTGGGGGGTGTGG 0.49 NA 7 246 --- --- --- --- NA NA NA NA NA UACA 55075 broad.mit.edu 37 15 70991941 70991942 + Frame_Shift_Ins INS - - C rs139520381 TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr15:70991941_70991942insC uc002asr.2 - 2 240_241 c.136_137insG c.(136-138)GATfs p.D46fs UACA_uc010uke.1_Frame_Shift_Ins_p.D46fs|UACA_uc002asq.2_Frame_Shift_Ins_p.D33fs|UACA_uc010bin.1_Frame_Shift_Ins_p.D32fs NM_018003 NP_060473 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and 46 ANK 1. cytoskeleton|extracellular region ovary(2)|pancreas(1)|skin(1) 4 TTTTTCTACATCCCCCCTTTCT 0.371 NA 7 903 --- --- --- --- NA NA NA NA NA GRIN2A 2903 broad.mit.edu 37 16 10273964 10273964 + Frame_Shift_Del DEL T T - TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr16:10273964delT uc002czo.3 - 2 853 c.305delA c.(304-306)GACfs p.D102fs GRIN2A_uc010uym.1_Frame_Shift_Del_p.D102fs|GRIN2A_uc002czr.3_Frame_Shift_Del_p.D102fs|GRIN2A_uc010buk.2_Frame_Shift_Del_p.D102fs NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 102 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GTCCGTGTCGTCCCCAAACAC 0.602 NA 31 142 --- --- --- --- NA NA NA NA NA NOMO1 23420 broad.mit.edu 37 16 14980694 14980695 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr16:14980694_14980695insC uc002dcv.2 + 28 3365_3366 c.3299_3300insC c.(3298-3300)TTCfs p.F1100fs NM_014287 NP_055102 Q15155 NOMO1_HUMAN nodal modulator 1 precursor 1100 Extracellular (Potential). integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding ovary(1) 1 TTCTTCCATTTCCCCCCACTGC 0.475 NA 9 453 --- --- --- --- NA NA NA NA NA POLR3E 55718 broad.mit.edu 37 16 22339833 22339834 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr16:22339833_22339834insC uc002dkk.2 + 19 2025_2026 c.1869_1870insC c.(1867-1872)TTTCCCfs p.F623fs POLR3E_uc002dkj.1_3'UTR|POLR3E_uc002dkm.2_Frame_Shift_Ins_p.F587fs|POLR3E_uc010vbr.1_Frame_Shift_Ins_p.F623fs|POLR3E_uc002dkl.2_Frame_Shift_Ins_p.F623fs|POLR3E_uc010vbs.1_Frame_Shift_Ins_p.F587fs|POLR3E_uc010vbt.1_Frame_Shift_Ins_p.F567fs NM_018119 NP_060589 Q9NVU0 RPC5_HUMAN RNA polymerase III polypeptide E 623_624 innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA-directed RNA polymerase activity ovary(1)|central_nervous_system(1) 2 GBM - Glioblastoma multiforme(48;0.012) TTGGTCAGTTTCCCCCCCAGAC 0.559 NA 7 122 --- --- --- --- NA NA NA NA NA MT4 84560 broad.mit.edu 37 16 56602768 56602769 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr16:56602768_56602769insC uc002eje.1 + 3 193_194 c.113_114insC c.(112-114)TGCfs p.C38fs NM_032935 NP_116324 P47944 MT4_HUMAN metallothionein 4 38 Divalent metal cation; cluster A (By similarity). cytoplasm copper ion binding|zinc ion binding ovary(1) 1 TGTCCCTGCTGCCCCCCGGGCT 0.599 NA 7 510 --- --- --- --- NA NA NA NA NA PLSCR3 57048 broad.mit.edu 37 17 7294058 7294059 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr17:7294058_7294059insC uc002ggm.1 - 7 934_935 c.725_726insG c.(724-726)GGCfs p.G242fs PLSCR3_uc002ggl.2_Frame_Shift_Ins_p.G218fs|PLSCR3_uc002ggq.1_Frame_Shift_Ins_p.G73fs|PLSCR3_uc002ggn.1_Frame_Shift_Ins_p.G242fs|PLSCR3_uc002ggo.1_Frame_Shift_Ins_p.G242fs|PLSCR3_uc002ggp.1_Frame_Shift_Ins_p.G73fs|PLSCR3_uc002ggr.1_Frame_Shift_Ins_p.G242fs|PLSCR3_uc010cmg.1_Frame_Shift_Ins_p.G242fs NM_020360 NP_065093 Q9NRY6 PLS3_HUMAN phospholipid scramblase 3 242 Cytoplasmic (By similarity). phospholipid scrambling integral to membrane|plasma membrane calcium ion binding|calcium-dependent protein binding|phospholipid scramblase activity|SH3 domain binding 0 Prostate(122;0.173) CTCGGACCAGGCCCCCCCACTG 0.614 NA 7 137 --- --- --- --- NA NA NA NA NA TP53 7157 broad.mit.edu 37 17 7578463 7578502 + Frame_Shift_Del DEL CGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCA CGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCA - rs137852793 TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 CGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCA CGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCA - - CGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCA CGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr17:7578463_7578502delCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCA uc002gim.2 - 5 622_661 c.428_467delTGCAGCTGTGGGTTGATTCCACACCCCCGCCCGGCACCCG c.(427-468)GTGCAGCTGTGGGTTGATTCCACACCCCCGCCCGGCACCCGCfs p.V143fs TP53_uc002gig.1_Frame_Shift_Del_p.V143fs|TP53_uc002gih.2_Frame_Shift_Del_p.V143fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.V11fs|TP53_uc010cng.1_Frame_Shift_Del_p.V11fs|TP53_uc002gii.1_Frame_Shift_Del_p.V11fs|TP53_uc010cnh.1_Frame_Shift_Del_p.V143fs|TP53_uc010cni.1_Frame_Shift_Del_p.V143fs|TP53_uc002gij.2_Frame_Shift_Del_p.V143fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.V50fs|TP53_uc002gio.2_Frame_Shift_Del_p.V11fs|TP53_uc010vug.1_Frame_Shift_Del_p.V104fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 143_156 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.P151S(61)|p.W146*(61)|p.P152L(57)|p.G154V(36)|p.Q144*(29)|p.P151H(25)|p.R156P(24)|p.P152S(21)|p.T155N(19)|p.L145Q(17)|p.L145P(17)|p.P152fs*18(17)|p.V143M(16)|p.V143A(15)|p.T155P(14)|p.P151T(13)|p.G154G(12)|p.P151P(12)|p.R156H(10)|p.T155I(10)|p.P151A(10)|p.P153fs*28(10)|p.G154S(9)|p.R156fs*14(8)|p.L145L(8)|p.Q144L(8)|p.P153S(8)|p.L145R(7)|p.P151fs*30(7)|p.T155A(7)|p.0?(7)|p.P152T(7)|p.P153P(7)|p.G154D(6)|p.V147G(6)|p.P151L(6)|p.P151R(6)|p.S149S(6)|p.S149F(6)|p.V147I(6)|p.P153L(6)|p.P152fs*29(5)|p.V147fs*23(5)|p.W146R(5)|p.T155T(5)|p.S149fs*32(5)|p.P152P(5)|p.V147D(4)|p.V143E(4)|p.P152fs*14(4)|p.V143L(4)|p.P152Q(4)|p.T150I(4)|p.Q144H(4)|p.D148E(4)|p.D148N(4)|p.Q144R(4)|p.Q144P(4)|p.S149P(4)|p.P152fs*28(3)|p.R156S(3)|p.R156fs*25(3)|p.R156G(3)|p.R156L(3)|p.Q144fs*26(3)|p.G154I(3)|p.T150fs*16(3)|p.P152R(3)|p.S149fs*21(3)|p.P153T(3)|p.G154fs*27(3)|p.V147V(3)|p.V143fs*27(2)|p.D148fs*33(2)|p.T155fs*23(2)|p.L145V(2)|p.R156C(2)|p.G154fs*16(2)|p.G154fs*14(2)|p.R156_I162delRVRAMAI(2)|p.V143V(2)|p.T155S(2)|p.Q144del(2)|p.Q144K(2)|p.P152A(2)|p.V147A(2)|p.D148V(2)|p.Q144Q(2)|p.P153fs*26(2)|p.S149T(2)|p.P153fs*22(2)|p.D148fs*23(2)|p.D148fs*22(2)|p.W146C(2)|p.L137_W146del10(1)|p.V143fs*29(1)|p.T150R(1)|p.D148fs*34(1)|p.D148fs*32(1)|p.L145del(1)|p.G154_R156delGTR(1)|p.T155fs*26(1)|p.T155fs*25(1)|p.W146fs*25(1)|p.W146fs*22(1)|p.W146fs*23(1)|p.T155_A161delTRVRAMA(1)|p.P58A(1)|p.Q144_G154del11(1)|p.W146_V147insXXXXXXX(1)|p.T150fs*31(1)|p.Q144fs*32(1)|p.D148_T155delDSTPPPGT(1)|p.R156_A161delRVRAMA(1)|p.R156del(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.T150fs*23(1)|p.T150_P153delTPPP(1)|p.G154A(1)|p.G154C(1)|p.P152del(1)|p.V143G(1)|p.S149fs*72(1)|p.Q144fs*16(1)|p.P153_G154insX(1)|p.K139fs*4(1)|p.V11A(1)|p.C141fs*5(1)|p.P152_P153del(1)|p.R156_R158delRVR(1)|p.V50A(1)|p.P151del(1)|p.W146_S149>C(1)|p.D148del(1)|p.T150K(1)|p.S149fs*17(1)|p.V143_S149del(1)|p.P152_P153insXXX(1)|p.T155_R156delTR(1)|p.T150_P151delTP(1)|p.Q144fs*4(1)|p.P142_Q144delPVQ(1)|p.P153fs*16(1)|p.D148Y(1)|p.P151_V173del23(1)|p.D148D(1)|p.D148H(1)|p.A138_V143delAKTCPV(1)|p.R156_A161del(1)|p.P153fs*20(1)|p.W146S(1)|p.W146fs*1(1)|p.S149fs*31(1)|p.W146G(1)|p.V147E(1)|p.G154fs*22(1)|p.V147F(1)|p.L145M(1)|p.P153F(1)|p.P153A(1)|p.D148*(1)|p.P19A(1)|p.P153H(1)|p.T155fs*15(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGT 0.592 Pancreas(47;798 1329 9957 10801) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 7 156 --- --- --- --- NA NA NA NA NA SSH2 85464 broad.mit.edu 37 17 27959374 27959375 + Frame_Shift_Ins INS - - G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr17:27959374_27959375insG uc002heo.1 - 15 2756_2757 c.2756_2757insC c.(2755-2757)CCAfs p.P919fs SSH2_uc010wbh.1_Frame_Shift_Ins_p.P946fs NM_033389 NP_203747 Q76I76 SSH2_HUMAN slingshot 2 919 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity skin(2) 2 ATGAATGTTCTGGGGGGGCTTC 0.48 NA 26 516 --- --- --- --- NA NA NA NA NA ACACA 31 broad.mit.edu 37 17 35600370 35600371 + Frame_Shift_Ins INS - - G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr17:35600370_35600371insG uc002hnm.2 - 22 2927_2928 c.2736_2737insC c.(2734-2739)CCCAATfs p.P912fs ACACA_uc002hnk.2_Frame_Shift_Ins_p.P834fs|ACACA_uc002hnl.2_Frame_Shift_Ins_p.P854fs|ACACA_uc002hnn.2_Frame_Shift_Ins_p.P912fs|ACACA_uc002hno.2_Frame_Shift_Ins_p.P949fs|ACACA_uc010cuz.2_Frame_Shift_Ins_p.P912fs NM_198836 NP_942133 Q13085 ACACA_HUMAN acetyl-Coenzyme A carboxylase alpha isoform 2 912_913 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding large_intestine(1)|ovary(1) 2 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) TTCTCCACATTGGGGGGAATGC 0.47 Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249) NA 7 702 --- --- --- --- NA NA NA NA NA CA10 56934 broad.mit.edu 37 17 50008356 50008357 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr17:50008356_50008357insC uc002itw.3 - 3 1258_1259 c.272_273insG c.(271-273)GGCfs p.G91fs CA10_uc002itv.3_Frame_Shift_Ins_p.G97fs|CA10_uc002itx.3_Frame_Shift_Ins_p.G91fs|CA10_uc002ity.3_Frame_Shift_Ins_p.G91fs|CA10_uc002itz.2_Frame_Shift_Ins_p.G91fs NM_020178 NP_064563 Q9NS85 CAH10_HUMAN carbonic anhydrase X 91 brain development ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) TTACCTTCCTGCCCCCCGTGTT 0.49 NA 11 694 --- --- --- --- NA NA NA NA NA MARCH10 162333 broad.mit.edu 37 17 60814265 60814266 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr17:60814265_60814266insC uc010ddr.2 - 6 1201_1202 c.963_964insG c.(961-966)GGGACAfs p.G321fs MARCH10_uc002jag.3_Frame_Shift_Ins_p.G321fs|MARCH10_uc010dds.2_Frame_Shift_Ins_p.G359fs|MARCH10_uc002jah.2_Frame_Shift_Ins_p.G320fs|uc002jaj.1_RNA|uc002jak.2_RNA NM_001100875 NP_001094345 Q8NA82 MARHA_HUMAN ring finger protein 190 321_322 ligase activity|zinc ion binding 0 GGGGTCGATGTCCCCCCAAATC 0.46 NA 8 620 --- --- --- --- NA NA NA NA NA FAM104A 84923 broad.mit.edu 37 17 71223356 71223357 + Frame_Shift_Ins INS - - G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr17:71223356_71223357insG uc002jji.3 - 2 356_357 c.268_269insC c.(268-270)CAGfs p.Q90fs FAM104A_uc002jjj.3_Frame_Shift_Ins_p.Q90fs NM_032837 NP_116226 Q969W3 F104A_HUMAN hypothetical protein LOC84923 isoform 2 90 0 LUSC - Lung squamous cell carcinoma(166;0.197) TCTTTTGGTCTGGGGGGGAAGA 0.416 NA 7 168 --- --- --- --- NA NA NA NA NA ALPK2 115701 broad.mit.edu 37 18 56246441 56246442 + Frame_Shift_Ins INS - - C rs12606191 byFrequency TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr18:56246441_56246442insC uc002lhj.3 - 4 1780_1781 c.1566_1567insG c.(1564-1569)GGAAAGfs p.G522fs NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 522_523 ATP binding|protein serine/threonine kinase activity ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 CATAAGTCCTTTCCCCCCACTC 0.52 NA OREG0025011 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 487 --- --- --- --- NA NA NA NA NA SERPINB7 8710 broad.mit.edu 37 18 61449757 61449758 + Frame_Shift_Del DEL CT CT - TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 CT CT - - CT CT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr18:61449757_61449758delCT uc002ljl.2 + 2 247_248 c.151_152delCT c.(151-153)CTCfs p.L51fs SERPINB7_uc002ljm.2_Frame_Shift_Del_p.L51fs|SERPINB7_uc010xet.1_Frame_Shift_Del_p.L51fs|SERPINB7_uc010dqg.2_Frame_Shift_Del_p.L51fs NM_001040147 NP_001035237 O75635 SPB7_HUMAN serine (or cysteine) proteinase inhibitor, clade 51 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity lung(2)|central_nervous_system(1) 3 Esophageal squamous(42;0.129) AGATGACTCCCTCTCTCAGATT 0.47 NA 82 345 --- --- --- --- NA NA NA NA NA CNDP2 55748 broad.mit.edu 37 18 72168667 72168668 + Frame_Shift_Ins INS - - G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr18:72168667_72168668insG uc002llm.1 + 3 326_327 c.164_165insG c.(163-165)TTGfs p.L55fs CNDP2_uc002lln.1_Frame_Shift_Ins_p.L55fs|CNDP2_uc002llo.2_Frame_Shift_Ins_p.L55fs NM_018235 NP_060705 Q96KP4 CNDP2_HUMAN CNDP dipeptidase 2 55 cytoplasm carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity ovary(2)|skin(1) 3 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.22) GTTAAGCAGTTGGGGGGCTCTG 0.52 NA 7 326 --- --- --- --- NA NA NA NA NA C3 718 broad.mit.edu 37 19 6697480 6697481 + Frame_Shift_Ins INS - - G rs137956083 TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr19:6697480_6697481insG uc002mfm.2 - 21 2732_2733 c.2670_2671insC c.(2668-2673)CCCAAGfs p.P890fs NM_000064 NP_000055 P01024 CO3_HUMAN complement component 3 precursor 890_891 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding skin(3)|ovary(1)|pancreas(1) 5 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) AACGAGGACTTGGGGGGGATGG 0.574 NA 9 296 --- --- --- --- NA NA NA NA NA ZNF878 729747 broad.mit.edu 37 19 12155624 12155625 + Frame_Shift_Ins INS - - T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr19:12155624_12155625insT uc002mta.1 - 5 732_733 c.732_733insA c.(730-735)AAACCCfs p.K244fs NM_001080404 NP_001073873 C9JN71 ZN878_HUMAN zinc finger protein 878 197_198 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding 0 CATTCATAGGGTTTTTTTGCAG 0.396 NA 8 362 --- --- --- --- NA NA NA NA NA C19orf40 91442 broad.mit.edu 37 19 33464113 33464114 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr19:33464113_33464114insC uc002nud.3 + 2 129_130 c.11_12insC c.(10-12)AACfs p.N4fs CCDC123_uc002nty.2_5'Flank|CCDC123_uc010edg.2_5'Flank|CCDC123_uc002ntz.1_5'Flank|CCDC123_uc002nua.2_5'Flank|CCDC123_uc002nuc.1_5'Flank NM_152266 NP_689479 Q9BTP7 FAP24_HUMAN Fanconi anemia-associated protein, 24 kDa 4 DNA repair Fanconi anaemia nuclear complex chromatin binding|DNA binding|protein binding 0 Esophageal squamous(110;0.137) ATGGAAAAGAACCCCCCTGATG 0.609 NA Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks 8 1451 --- --- --- --- NA NA NA NA NA AXL 558 broad.mit.edu 37 19 41743932 41743933 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr19:41743932_41743933insC uc010ehj.2 + 7 1057_1058 c.867_868insC c.(865-870)GTGCCCfs p.V289fs CYP2F1_uc010xvw.1_Intron|AXL_uc010ehi.1_Frame_Shift_Ins_p.V289fs|AXL_uc010ehk.2_Frame_Shift_Ins_p.V289fs NM_021913 NP_068713 P30530 UFO_HUMAN AXL receptor tyrosine kinase isoform 1 289_290 Extracellular (Potential).|Fibronectin type-III 1. integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity p.V289M(1) lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1) 13 AAGCATCCGTGCCCCCCCATCA 0.649 NA 8 219 --- --- --- --- NA NA NA NA NA MARK4 57787 broad.mit.edu 37 19 45805663 45805664 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr19:45805663_45805664insC uc002pbb.1 + 17 1959_1960 c.1954_1955insC c.(1954-1956)GCCfs p.A652fs MARK4_uc002pba.1_Frame_Shift_Ins_p.P678fs Q96L34 MARK4_HUMAN RecName: Full=MAP/microtubule affinity-regulating kinase 4; EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1; 652 microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding central_nervous_system(2)|large_intestine(1) 3 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) AACGGAAACCGCCCCCCGGCTG 0.639 NA 7 182 --- --- --- --- NA NA NA NA NA CARD8 22900 broad.mit.edu 37 19 48737669 48737670 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr19:48737669_48737670insC uc002pie.3 - 3 379_380 c.66_67insG c.(64-69)GGGACAfs p.G22fs CARD8_uc002pii.3_Frame_Shift_Ins_p.D114fs|CARD8_uc010xzi.1_Frame_Shift_Ins_p.G22fs|CARD8_uc010els.2_5'Flank|CARD8_uc010xzj.1_Frame_Shift_Ins_p.D114fs|CARD8_uc010xzk.1_Frame_Shift_Ins_p.G46fs|CARD8_uc002pif.3_Frame_Shift_Ins_p.G22fs|CARD8_uc002pig.3_5'UTR|CARD8_uc002pih.3_Frame_Shift_Ins_p.D64fs|CARD8_uc010xzl.1_Frame_Shift_Ins_p.D64fs|CARD8_uc010xzm.1_Frame_Shift_Ins_p.D114fs NM_014959 NP_055774 Q9Y2G2 CARD8_HUMAN caspase recruitment domain family, member 8 22_23 negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion cytoplasm|nucleus caspase activator activity|NACHT domain binding|protein homodimerization activity 0 all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184) OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336) CCTGGGAATGTCCCCCCCAGAT 0.436 NA 8 269 --- --- --- --- NA NA NA NA NA HRC 3270 broad.mit.edu 37 19 49657097 49657098 + Frame_Shift_Ins INS - - G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr19:49657097_49657098insG uc002pmv.2 - 1 1584_1585 c.1397_1398insC c.(1396-1398)CCAfs p.P466fs NM_002152 NP_002143 P23327 SRCH_HUMAN histidine rich calcium binding protein 466 muscle contraction sarcoplasmic reticulum lumen calcium ion binding ovary(1) 1 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622) CTGTGTGTCCTGGGGGGTGATG 0.55 Melanoma(37;75 1097 24567 25669 30645) NA 7 303 --- --- --- --- NA NA NA NA NA ZNF160 90338 broad.mit.edu 37 19 53571731 53571732 + Frame_Shift_Del DEL AG AG - TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 AG AG - - AG AG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr19:53571731_53571732delAG uc010eqk.2 - 7 2471_2472 c.2055_2056delCT c.(2053-2058)GTCTTCfs p.V685fs ZNF160_uc002qaq.3_Frame_Shift_Del_p.V685fs|ZNF160_uc002qar.3_Frame_Shift_Del_p.V685fs NM_001102603 NP_001096073 Q9HCG1 ZN160_HUMAN zinc finger protein 160 685_686 C2H2-type 16. hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 GBM - Glioblastoma multiforme(134;0.02) TTCTGAGTGAAGACCTTGCCAC 0.441 NA 32 375 --- --- --- --- NA NA NA NA NA NFU1 27247 broad.mit.edu 37 2 69659083 69659084 + Frame_Shift_Del DEL CT CT - TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 CT CT - - CT CT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr2:69659083_69659084delCT uc002sfk.2 - 2 315_316 c.116_117delAG c.(115-117)CAGfs p.Q39fs NFU1_uc002sfj.2_Frame_Shift_Del_p.Q15fs|NFU1_uc002sfl.2_5'UTR|NFU1_uc002sfm.2_5'UTR|NFU1_uc010fdi.2_RNA|NFU1_uc002sfn.1_Frame_Shift_Del_p.Q39fs NM_001002755 NP_001002755 Q9UMS0 NFU1_HUMAN HIRA interacting protein 5 isoform 2 39 iron-sulfur cluster assembly cytosol|mitochondrion|nucleus 4 iron, 4 sulfur cluster binding|iron ion binding|protein binding 0 TTTGTACAAACTGATGCAGAGG 0.371 NA 23 77 --- --- --- --- NA NA NA NA NA ALMS1 7840 broad.mit.edu 37 2 73678333 73678333 + Frame_Shift_Del DEL C C - TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr2:73678333delC uc002sje.1 + 10 4793 c.4682delC c.(4681-4683)ACAfs p.T1561fs ALMS1_uc002sjf.1_Frame_Shift_Del_p.T1517fs|ALMS1_uc002sjg.2_Frame_Shift_Del_p.T947fs|ALMS1_uc002sjh.1_Frame_Shift_Del_p.T947fs NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 1559 22.|34 X 47 AA approximate tandem repeat. 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 GCTGACCAGACAACTGGCATA 0.468 NA 47 233 --- --- --- --- NA NA NA NA NA IL1R2 7850 broad.mit.edu 37 2 102638681 102638682 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr2:102638681_102638682insC uc002tbm.2 + 6 950_951 c.721_722insC c.(721-723)TCCfs p.S241fs IL1R2_uc002tbn.2_Frame_Shift_Ins_p.S241fs|IL1R2_uc002tbo.1_Frame_Shift_Ins_p.S241fs NM_004633 NP_004624 P27930 IL1R2_HUMAN interleukin 1 receptor, type II precursor 241 Extracellular (Potential).|Ig-like C2-type 3. immune response integral to membrane|plasma membrane interleukin-1, Type II, blocking receptor activity ovary(1)|breast(1) 2 Anakinra(DB00026) TGTGATCATTTCCCCCCTCAAG 0.49 Pancreas(106;189 1628 2302 5133 12295) NA 7 442 --- --- --- --- NA NA NA NA NA SLC9A2 6549 broad.mit.edu 37 2 103324745 103324746 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr2:103324745_103324746insC uc002tca.2 + 12 2378_2379 c.2236_2237insC c.(2236-2238)ACCfs p.T746fs NM_003048 NP_003039 Q9UBY0 SL9A2_HUMAN solute carrier family 9 (sodium/hydrogen 746 Cytoplasmic (Potential). integral to membrane|plasma membrane sodium:hydrogen antiporter activity central_nervous_system(3)|skin(3)|breast(2) 8 TATGCCCAGCACCCCCCCAACA 0.53 NA 14 288 --- --- --- --- NA NA NA NA NA R3HDM1 23518 broad.mit.edu 37 2 136389448 136389449 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr2:136389448_136389449insC uc002tuo.2 + 9 945_946 c.575_576insC c.(574-576)TTCfs p.F192fs R3HDM1_uc010fni.2_Frame_Shift_Ins_p.F190fs|R3HDM1_uc002tup.2_Frame_Shift_Ins_p.F136fs|R3HDM1_uc010zbh.1_Frame_Shift_Ins_p.F24fs NM_015361 NP_056176 Q15032 R3HD1_HUMAN R3H domain containing 1 192 R3H. nucleic acid binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.127) CGTAAAAAATTCCCCCCAATGA 0.396 NA 8 326 --- --- --- --- NA NA NA NA NA XIRP2 129446 broad.mit.edu 37 2 168099957 168099958 + Frame_Shift_Ins INS - - G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr2:168099957_168099958insG uc002udx.2 + 8 2073_2074 c.2055_2056insG c.(2053-2058)ACTGGGfs p.T685fs XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Frame_Shift_Ins_p.T510fs|XIRP2_uc010fpq.2_Frame_Shift_Ins_p.T463fs|XIRP2_uc010fpr.2_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 510_511 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 AGGACATAACTGGGGGGGATGT 0.421 NA 11 321 --- --- --- --- NA NA NA NA NA MYO3B 140469 broad.mit.edu 37 2 171240258 171240259 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr2:171240258_171240259insC uc002ufy.2 + 12 1367_1368 c.1224_1225insC c.(1222-1227)AATCCCfs p.N408fs MYO3B_uc002ufv.2_Frame_Shift_Ins_p.N395fs|MYO3B_uc010fqb.1_Frame_Shift_Ins_p.N395fs|MYO3B_uc002ufz.2_Frame_Shift_Ins_p.N408fs|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA NM_138995 NP_620482 Q8WXR4 MYO3B_HUMAN myosin IIIB isoform 2 408_409 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity lung(8)|ovary(6)|skin(4)|central_nervous_system(1) 19 GCGCCTCCAATCCCCCCCACAT 0.465 NA 7 387 --- --- --- --- NA NA NA NA NA NEUROD1 4760 broad.mit.edu 37 2 182542971 182542972 + Frame_Shift_Ins INS - - G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr2:182542971_182542972insG uc002uof.2 - 2 852_853 c.616_617insC c.(616-618)CACfs p.H206fs CERKL_uc002uod.1_Intron NM_002500 NP_002491 Q13562 NDF1_HUMAN neurogenic differentiation 1 206 amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.088) CGTCGGCAGGTGGGGGGGCATG 0.619 NA 10 173 --- --- --- --- NA NA NA NA NA CST1 1469 broad.mit.edu 37 20 23729753 23729754 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr20:23729753_23729754insC uc002wtp.2 - 2 312_313 c.241_242insG c.(241-243)GTGfs p.V81fs NM_001898 NP_001889 P01037 CYTN_HUMAN cystatin SN precursor 81 extracellular region cysteine-type endopeptidase inhibitor activity ovary(1) 1 Lung NSC(19;0.0676)|all_lung(19;0.148) GAAGTAATTCACCCCCCCAACG 0.554 NA 13 378 --- --- --- --- NA NA NA NA NA RALGAPB 57148 broad.mit.edu 37 20 37146232 37146233 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr20:37146232_37146233insC uc002xiw.2 + 8 1392_1393 c.1135_1136insC c.(1135-1137)ACCfs p.T379fs RALGAPB_uc010zvz.1_Frame_Shift_Ins_p.T379fs|RALGAPB_uc002xix.2_Frame_Shift_Ins_p.T379fs|RALGAPB_uc002xiy.1_Frame_Shift_Ins_p.T379fs|RALGAPB_uc002xiz.2_Frame_Shift_Ins_p.T157fs|RALGAPB_uc002xja.1_Frame_Shift_Ins_p.T106fs NM_020336 NP_065069 Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit 379 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity pancreas(1)|skin(1) 2 TGTCAGTACCACCCCCCCACAT 0.446 NA 7 123 --- --- --- --- NA NA NA NA NA SLPI 6590 broad.mit.edu 37 20 43881730 43881731 + Frame_Shift_Ins INS - - G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr20:43881730_43881731insG uc002xnm.1 - 3 328_329 c.306_307insC c.(304-309)CCCAATfs p.P102fs NM_003064 NP_003055 P03973 SLPI_HUMAN secretory leukocyte peptidase inhibitor 102_103 Elastase inhibitory domain.|WAP 2. extracellular region serine-type endopeptidase inhibitor activity ovary(1) 1 Myeloproliferative disorder(115;0.0122) TCACAGAAATTGGGGGGGTTAA 0.535 GBM(64;162 1089 31780 33427 34538) NA 11 318 --- --- --- --- NA NA NA NA NA OSBPL2 9885 broad.mit.edu 37 20 60854257 60854258 + Frame_Shift_Ins INS - - C rs79735057 TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr20:60854257_60854258insC uc002yck.1 + 7 738_739 c.536_537insC c.(535-537)CACfs p.H179fs OSBPL2_uc002ycl.1_Frame_Shift_Ins_p.H167fs|OSBPL2_uc011aah.1_Frame_Shift_Ins_p.H87fs|OSBPL2_uc002ycm.1_5'UTR NM_144498 NP_653081 Q9H1P3 OSBL2_HUMAN oxysterol-binding protein-like protein 2 isoform 179 lipid transport lipid binding ovary(1)|central_nervous_system(1) 2 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;1.33e-06) GTCAGTCACCACCCCCCCATCA 0.465 NA 9 176 --- --- --- --- NA NA NA NA NA GRIK1 2897 broad.mit.edu 37 21 30959772 30959772 + Frame_Shift_Del DEL G G - TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr21:30959772delG uc002yno.1 - 12 2171 c.1707delC c.(1705-1707)TCCfs p.S569fs GRIK1_uc002ynn.2_Frame_Shift_Del_p.S554fs|GRIK1_uc011acs.1_Frame_Shift_Del_p.S569fs|GRIK1_uc011act.1_Frame_Shift_Del_p.S430fs|GRIK1_uc010glq.1_Frame_Shift_Del_p.S412fs NM_000830 NP_000821 P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 569 Extracellular (Potential). central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity large_intestine(1)|ovary(1)|skin(1) 3 L-Glutamic Acid(DB00142)|Topiramate(DB00273) GGTTGAGGAAGGAGAAAACGC 0.483 NA 44 84 --- --- --- --- NA NA NA NA NA SH3BGR 6450 broad.mit.edu 37 21 40823994 40823995 + Frame_Shift_Ins INS - - G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr21:40823994_40823995insG uc002yya.2 + 1 215_216 c.161_162insG c.(160-162)TTGfs p.L54fs SH3BGR_uc002yxz.2_Intron NM_007341 NP_031367 P55822 SH3BG_HUMAN SH3-binding domain and glutamic acid-rich 54 protein complex assembly cytosol SH3 domain binding|SH3/SH2 adaptor activity 0 all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133) STAD - Stomach adenocarcinoma(101;0.00151) AGGGGTGTGTTGGGGGGAGTCC 0.554 NA 7 582 --- --- --- --- NA NA NA NA NA DSCAM 1826 broad.mit.edu 37 21 41514614 41514615 + Frame_Shift_Ins INS - - G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr21:41514614_41514615insG uc002yyq.1 - 18 3728_3729 c.3276_3277insC c.(3274-3279)CCCGAAfs p.P1092fs DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 1092_1093 Extracellular (Potential).|Fibronectin type-III 3. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TGGACATTTTCGGGGGGGTAAC 0.406 Melanoma(134;970 1778 1785 21664 32388) NA 12 826 --- --- --- --- NA NA NA NA NA CECR2 27443 broad.mit.edu 37 22 18022285 18022286 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr22:18022285_18022286insC uc010gqw.1 + 15 2513_2514 c.2387_2388insC c.(2386-2388)GTCfs p.V796fs CECR2_uc010gqv.1_Frame_Shift_Ins_p.V655fs|CECR2_uc002zml.2_Frame_Shift_Ins_p.V655fs NM_031413 NP_113601 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 838 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding ovary(1)|skin(1) 2 all_epithelial(15;0.139) Lung(27;0.146) AGACCACCTGTCCCCCCCAACC 0.609 NA 8 171 --- --- --- --- NA NA NA NA NA MTMR3 8897 broad.mit.edu 37 22 30408493 30408494 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr22:30408493_30408494insC uc003agv.3 + 13 1586_1587 c.1258_1259insC c.(1258-1260)ACCfs p.T420fs MTMR3_uc003agu.3_Frame_Shift_Ins_p.T420fs|MTMR3_uc003agw.3_Frame_Shift_Ins_p.T420fs NM_021090 NP_066576 Q13615 MTMR3_HUMAN myotubularin-related protein 3 isoform c 420 Myotubularin phosphatase. phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|ovary(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) CTGGGACCGCACCCCCCAGATT 0.545 NA 9 1197 --- --- --- --- NA NA NA NA NA DDX17 10521 broad.mit.edu 37 22 38895454 38895455 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr22:38895454_38895455insC uc003avy.3 - 3 591_592 c.488_489insG c.(487-489)GGAfs p.G163fs DDX17_uc003avx.3_Frame_Shift_Ins_p.G163fs|DDX17_uc011anu.1_Frame_Shift_Ins_p.G76fs NM_001098504 NP_001091974 Q92841 DDX17_HUMAN DEAD box polypeptide 17 isoform 3 84 RNA processing nucleus ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity skin(3)|upper_aerodigestive_tract(1) 4 Melanoma(58;0.0286) GACAAACATCTCCCCCCCTCAC 0.381 Ovarian(55;1085 1454 6392 21425) NA 8 152 --- --- --- --- NA NA NA NA NA TCF20 6942 broad.mit.edu 37 22 42610947 42610948 + Frame_Shift_Ins INS - - G rs138734341 TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr22:42610947_42610948insG uc003bcj.1 - 1 498_499 c.364_365insC c.(364-366)CAGfs p.Q122fs TCF20_uc003bck.1_Frame_Shift_Ins_p.Q122fs|TCF20_uc003bnt.2_Frame_Shift_Ins_p.Q122fs NM_005650 NP_005641 Q9UGU0 TCF20_HUMAN transcription factor 20 isoform 1 122 Q -> R (in Ref. 1). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(4)|skin(1) 5 GCTGCTCCCCTGGGGGGGTCCA 0.564 NA 11 299 --- --- --- --- NA NA NA NA NA SETD5 55209 broad.mit.edu 37 3 9517294 9517295 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr3:9517294_9517295insC uc003brt.2 + 23 4283_4284 c.3848_3849insC c.(3847-3849)AACfs p.N1283fs SETD5_uc003bru.2_Frame_Shift_Ins_p.N1185fs|SETD5_uc003brv.2_Frame_Shift_Ins_p.N1172fs|SETD5_uc010hck.2_Frame_Shift_Ins_p.N765fs|SETD5_uc003brx.2_Frame_Shift_Ins_p.N952fs NM_001080517 NP_001073986 Q9C0A6 SETD5_HUMAN SET domain containing 5 1283 Ser-rich. ovary(2) 2 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) AGACCTGGAAACCCCCCCTCTC 0.55 NA 7 184 --- --- --- --- NA NA NA NA NA MLH1 4292 broad.mit.edu 37 3 37070348 37070349 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr3:37070348_37070349insC uc003cgl.2 + 13 1543_1544 c.1483_1484insC c.(1483-1485)ACCfs p.T495fs MLH1_uc011aye.1_Frame_Shift_Ins_p.T254fs|MLH1_uc011ayb.1_Frame_Shift_Ins_p.T254fs|MLH1_uc010hge.2_Frame_Shift_Ins_p.T495fs|MLH1_uc003cgn.3_Frame_Shift_Ins_p.T254fs|MLH1_uc011ayc.1_Frame_Shift_Ins_p.T397fs|MLH1_uc011ayd.1_Frame_Shift_Ins_p.T254fs|MLH1_uc003cgo.2_Frame_Shift_Ins_p.T254fs|MLH1_uc010hgi.1_Frame_Shift_Ins_p.T137fs|MLH1_uc010hgj.1_Frame_Shift_Ins_p.T137fs|MLH1_uc010hgk.2_Frame_Shift_Ins_p.T137fs|MLH1_uc010hgl.1_Frame_Shift_Ins_p.T70fs|MLH1_uc010hgn.2_Frame_Shift_Ins_p.T137fs|MLH1_uc010hgm.2_RNA|MLH1_uc010hgo.2_Frame_Shift_Ins_p.T137fs NM_000249 NP_000240 P40692 MLH1_HUMAN MutL protein homolog 1 495 Interaction with EXO1. mismatch repair|somatic hypermutation of immunoglobulin genes chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|protein binding p.T495A(1)|p.0?(1) large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|breast(3)|prostate(3)|skin(2)|NS(1) 77 TGCAGCTTGTACCCCCCGGAGA 0.47 1 D|Mis|N|F|S colorectal|endometrial|ovarian|CNS colorectal|endometrial|ovarian|CNS MMR Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome 7 374 --- --- --- --- NA NA NA NA NA MUC13 56667 broad.mit.edu 37 3 124646628 124646629 + Frame_Shift_Ins INS - - G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr3:124646628_124646629insG uc003ehq.1 - 2 285_286 c.261_262insC c.(259-264)CCCATAfs p.P87fs NM_033049 NP_149038 Q9H3R2 MUC13_HUMAN mucin 13, epithelial transmembrane 87_88 Thr-rich.|Extracellular (Potential). extracellular region|integral to membrane|plasma membrane 0 GTACTAATTATGGGGGGAGCAG 0.441 NA 7 713 --- --- --- --- NA NA NA NA NA ATP13A3 79572 broad.mit.edu 37 3 194169249 194169250 + Frame_Shift_Del DEL TC TC - TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 TC TC - - TC TC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr3:194169249_194169250delTC uc003fty.3 - 11 1488_1489 c.1086_1087delGA c.(1084-1089)GGGACAfs p.G362fs ATP13A3_uc003ftz.1_Frame_Shift_Del_p.G68fs NM_024524 NP_078800 Q9H7F0 AT133_HUMAN ATPase type 13A3 362_363 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(1) 1 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) ATAACAGTTGTCCCACAAAACA 0.351 NA 370 461 --- --- --- --- NA NA NA NA NA FAM193A 8603 broad.mit.edu 37 4 2661592 2661593 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr4:2661592_2661593insC uc010icl.2 + 8 1034_1035 c.683_684insC c.(682-684)GACfs p.D228fs FAM193A_uc010ick.2_Frame_Shift_Ins_p.D428fs|FAM193A_uc003gfd.2_Frame_Shift_Ins_p.D228fs|FAM193A_uc011bvm.1_Frame_Shift_Ins_p.D252fs|FAM193A_uc011bvn.1_Frame_Shift_Ins_p.D228fs|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Frame_Shift_Ins_p.D82fs NM_003704 NP_003695 P78312 F193A_HUMAN hypothetical protein LOC8603 228 ovary(3) 3 GGTATCATGGACCCCCCCGTCA 0.525 NA 18 584 --- --- --- --- NA NA NA NA NA LGI2 55203 broad.mit.edu 37 4 25005320 25005321 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr4:25005320_25005321insC uc003grf.2 - 8 1489_1490 c.1390_1391insG c.(1390-1392)GCCfs p.A464fs NM_018176 NP_060646 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 464 EAR 6. extracellular region 0 Breast(46;0.173) CAGGGTCATGGCCCCCCGGGAT 0.515 NA 7 212 --- --- --- --- NA NA NA NA NA ABCG2 9429 broad.mit.edu 37 4 89052270 89052271 + Frame_Shift_Ins INS - - T rs150450599 byFrequency TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr4:89052270_89052271insT uc003hrg.2 - 5 966_967 c.473_474insA c.(472-474)AACfs p.N158fs ABCG2_uc003hrh.2_Frame_Shift_Ins_p.N158fs|ABCG2_uc003hrf.2_Frame_Shift_Ins_p.N28fs NM_004827 NP_004818 Q9UNQ0 ABCG2_HUMAN ATP-binding cassette, sub-family G, member 2 158 ABC transporter.|Cytoplasmic (Potential). cellular iron ion homeostasis|urate metabolic process integral to membrane|plasma membrane ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity central_nervous_system(1) 1 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;7.02e-05) Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030) TAATCCGTTCGTTTTTTTCATG 0.426 NA 8 699 --- --- --- --- NA NA NA NA NA UNC5C 8633 broad.mit.edu 37 4 96140293 96140294 + Frame_Shift_Ins INS - - G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr4:96140293_96140294insG uc003htp.1 - 9 1625_1626 c.1471_1472insC c.(1471-1473)CAAfs p.Q491fs UNC5C_uc010ilc.1_Frame_Shift_Ins_p.Q510fs|UNC5C_uc003htq.2_Frame_Shift_Ins_p.Q510fs NM_003728 NP_003719 O95185 UNC5C_HUMAN unc5C precursor 491 Cytoplasmic (Potential). apoptosis|axon guidance|brain development integral to membrane netrin receptor activity ovary(3)|pancreas(1) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) GAGGTCATCTTGGGGGGTGACA 0.505 NA 7 378 --- --- --- --- NA NA NA NA NA CFI 3426 broad.mit.edu 37 4 110662158 110662159 + Frame_Shift_Ins INS - - C rs7437875 byFrequency TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr4:110662158_110662159insC uc003hzr.3 - 13 1850_1851 c.1642_1643insG c.(1642-1644)GAAfs p.E548fs CFI_uc003hzq.2_Frame_Shift_Ins_p.E345fs|CFI_uc011cft.1_Frame_Shift_Ins_p.E556fs|CFI_uc003hzs.3_Frame_Shift_Ins_p.E541fs NM_000204 NP_000195 P05156 CFAI_HUMAN complement factor I preproprotein 548 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular space|membrane scavenger receptor activity|serine-type endopeptidase activity 0 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000331) TCCACAGTTTTCCCCCCAACTC 0.465 NA 8 429 --- --- --- --- NA NA NA NA NA EGF 1950 broad.mit.edu 37 4 110909773 110909774 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr4:110909773_110909774insC uc003hzy.3 + 18 3094_3095 c.2642_2643insC c.(2641-2643)TGCfs p.C881fs EGF_uc011cfu.1_Frame_Shift_Ins_p.C839fs|EGF_uc011cfv.1_Frame_Shift_Ins_p.C881fs|EGF_uc010imk.2_Intron NM_001963 NP_001954 P01133 EGF_HUMAN epidermal growth factor precursor 881 EGF-like 7; calcium-binding (Potential).|Extracellular (Potential). angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) GTCCCAGTGTGCCCCCCTGCCT 0.47 NA 7 551 --- --- --- --- NA NA NA NA NA FYB 2533 broad.mit.edu 37 5 39202090 39202091 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr5:39202090_39202091insC uc003jls.2 - 1 1039_1040 c.972_973insG c.(970-975)GGGCCAfs p.G324fs FYB_uc003jlt.2_Frame_Shift_Ins_p.G324fs|FYB_uc003jlu.2_Frame_Shift_Ins_p.G324fs|FYB_uc011cpl.1_Frame_Shift_Ins_p.G334fs NM_199335 NP_955367 O15117 FYB_HUMAN FYN binding protein (FYB-120/130) isoform 2 324_325 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding ovary(2) 2 all_lung(31;0.000343) Epithelial(62;0.235) TGGCCCCATGGCCCCCCCACTG 0.54 NA 9 166 --- --- --- --- NA NA NA NA NA C6 729 broad.mit.edu 37 5 41181559 41181560 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr5:41181559_41181560insC uc003jmk.2 - 7 1038_1039 c.828_829insG c.(826-831)GGGAGCfs p.G276fs C6_uc003jml.1_Frame_Shift_Ins_p.G276fs NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 276_277 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding ovary(3)|central_nervous_system(2)|skin(2) 7 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) CTGAAAGAGCTCCCCCCCTGAC 0.376 NA 11 181 --- --- --- --- NA NA NA NA NA MAP1B 4131 broad.mit.edu 37 5 71495076 71495077 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr5:71495076_71495077insC uc003kbw.3 + 5 6135_6136 c.5894_5895insC c.(5893-5895)AGCfs p.S1965fs MAP1B_uc010iyw.1_Frame_Shift_Ins_p.S1982fs|MAP1B_uc010iyx.1_Frame_Shift_Ins_p.S1839fs|MAP1B_uc010iyy.1_Frame_Shift_Ins_p.S1839fs NM_005909 NP_005900 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1965 MAP1B 6. microtubule|microtubule associated complex structural molecule activity large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) AAGACCACCAGCCCCCCCGAAG 0.485 Melanoma(17;367 822 11631 31730 47712) NA 9 241 --- --- --- --- NA NA NA NA NA RASGRF2 5924 broad.mit.edu 37 5 80369227 80369228 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr5:80369227_80369228insC uc003kha.1 + 5 843_844 c.843_844insC c.(841-846)AAGCCCfs p.K281fs RASGRF2_uc011ctn.1_RNA|RASGRF2_uc003khb.1_Frame_Shift_Ins_p.K109fs NM_006909 NP_008840 O14827 RGRF2_HUMAN Ras protein-specific guanine 281_282 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1) 12 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) GCTCCAAGAAGCCCCCCATCAG 0.49 NA 13 68 --- --- --- --- NA NA NA NA NA EXOC2 55770 broad.mit.edu 37 6 637793 637794 + Frame_Shift_Ins INS - - G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr6:637793_637794insG uc003mtd.2 - 2 159_160 c.25_26insC c.(25-27)CTTfs p.L9fs EXOC2_uc003mte.2_Frame_Shift_Ins_p.L9fs|EXOC2_uc011dho.1_Intron NM_018303 NP_060773 Q96KP1 EXOC2_HUMAN Sec5 protein 9 IPT/TIG. exocytosis|protein transport breast(4)|ovary(2)|pancreas(1) 7 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) GCCGGTCACAAGGGGGGGTTGT 0.485 NA 10 305 --- --- --- --- NA NA NA NA NA PHACTR1 221692 broad.mit.edu 37 6 13206134 13206135 + Frame_Shift_Ins INS - - G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr6:13206134_13206135insG uc010jpc.2 + 8 1084_1085 c.752_753insG c.(751-753)GTGfs p.V251fs PHACTR1_uc011dir.1_Frame_Shift_Ins_p.V320fs|PHACTR1_uc003nag.1_Frame_Shift_Ins_p.V251fs|PHACTR1_uc003nah.1_Frame_Shift_Ins_p.V251fs NM_030948 NP_112210 Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 251 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity 0 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) TGTATGCCCGTGGGGGGGCCAG 0.599 NA 7 206 --- --- --- --- NA NA NA NA NA DCDC2 51473 broad.mit.edu 37 6 24205282 24205283 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr6:24205282_24205283insC uc003ndx.2 - 8 1272_1273 c.970_971insG c.(970-972)GCAfs p.A324fs DCDC2_uc003ndy.2_Frame_Shift_Ins_p.A324fs|DCDC2_uc003ndw.2_Frame_Shift_Ins_p.A75fs NM_016356 NP_057440 Q9UHG0 DCDC2_HUMAN doublecortin domain containing 2 324 cellular defense response|intracellular signal transduction|neuron migration ovary(1) 1 Ovarian(999;0.101) GACTTCTGCTGCCCCCCGTGTT 0.411 NA 14 1246 --- --- --- --- NA NA NA NA NA OR5V1 81696 broad.mit.edu 37 6 29323407 29323407 + Frame_Shift_Del DEL C C - TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr6:29323407delC uc011dlo.1 - 1 648 c.566delG c.(565-567)TGTfs p.C189fs NM_030876 NP_110503 Q9UGF6 OR5V1_HUMAN olfactory receptor, family 5, subfamily V, 189 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|kidney(1) 4 AGTGTTTCCACAAGACAAGAT 0.443 Ovarian(32;43 883 21137 32120 42650) NA 138 496 --- --- --- --- NA NA NA NA NA MOG 4340 broad.mit.edu 37 6 29627216 29627217 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr6:29627216_29627217insC uc003nnf.2 + 2 387_388 c.209_210insC c.(208-210)CGCfs p.R70fs MOG_uc003qzk.1_Frame_Shift_Ins_p.R70fs|MOG_uc010kle.1_Intron|MOG_uc010klf.1_Intron|MOG_uc003nmy.1_Frame_Shift_Ins_p.R70fs|MOG_uc003nmz.2_Frame_Shift_Ins_p.R70fs|MOG_uc011dlt.1_Intron|MOG_uc003nna.2_Intron|MOG_uc011dlu.1_Intron|MOG_uc011dlv.1_Intron|MOG_uc003nnd.2_Frame_Shift_Ins_p.R70fs|MOG_uc003nne.2_Frame_Shift_Ins_p.R70fs|MOG_uc003nng.2_Frame_Shift_Ins_p.R70fs|MOG_uc003nnh.2_Frame_Shift_Ins_p.R70fs|MOG_uc003nni.2_Frame_Shift_Ins_p.R70fs|MOG_uc003nnj.2_Frame_Shift_Ins_p.R70fs|MOG_uc003nnk.2_Frame_Shift_Ins_p.R70fs NM_206809 NP_996532 Q16653 MOG_HUMAN myelin oligodendrocyte glycoprotein isoform 70 Ig-like V-type.|Extracellular (Potential). cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane ovary(1) 1 GGGTGGTACCGCCCCCCCTTCT 0.569 NA 9 209 --- --- --- --- NA NA NA NA NA UHRF1BP1 54887 broad.mit.edu 37 6 34791081 34791082 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr6:34791081_34791082insC uc003oju.3 + 4 528_529 c.294_295insC c.(292-297)CGGCCCfs p.R98fs UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA NM_017754 NP_060224 Q6BDS2 URFB1_HUMAN ICBP90 binding protein 1 98_99 ovary(3) 3 AGGATCCTCGGCCCCCCAATGG 0.446 NA 18 886 --- --- --- --- NA NA NA NA NA MAPK14 1432 broad.mit.edu 37 6 36068005 36068006 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr6:36068005_36068006insC uc003olp.2 + 9 1204_1205 c.723_724insC c.(721-726)ACACCCfs p.T241fs MAPK14_uc003olo.2_Intron|MAPK14_uc003olq.2_Intron|MAPK14_uc003olr.2_Intron|MAPK14_uc011dti.1_Intron NM_001315 NP_001306 Q16539 MK14_HUMAN mitogen-activated protein kinase 14 isoform 1 241_242 Protein kinase. activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding ovary(2)|stomach(1)|lung(1)|central_nervous_system(1)|skin(1) 6 TGACAGGAACACCCCCCGCTTA 0.426 Pancreas(20;8 363 26997 32430 36377 43317 49243 50560 51947)|Colon(176;951 1093 20177 30266 32328 34418 35271 44052 51610) NA 13 368 --- --- --- --- NA NA NA NA NA RUNX2 860 broad.mit.edu 37 6 45514855 45514856 + Frame_Shift_Ins INS - - G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr6:45514855_45514856insG uc011dvx.1 + 9 1589_1590 c.1379_1380insG c.(1378-1380)CCGfs p.P460fs RUNX2_uc011dvy.1_Frame_Shift_Ins_p.P438fs|RUNX2_uc003oxt.2_Frame_Shift_Ins_p.P446fs NM_001024630 NP_001019801 Q13950 RUNX2_HUMAN runt-related transcription factor 2 isoform a 460 Pro/Ser/Thr-rich.|Interaction with MYST4. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 CCCATGGTGCCGGGGGGAGACC 0.545 NA 8 208 --- --- --- --- NA NA NA NA NA REV3L 5980 broad.mit.edu 37 6 111693903 111693904 + Frame_Shift_Ins INS - - G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr6:111693903_111693904insG uc003puy.3 - 13 5977_5978 c.5654_5655insC c.(5653-5655)CCAfs p.P1885fs REV3L_uc003pux.3_Frame_Shift_Ins_p.P1807fs|REV3L_uc003puz.3_Frame_Shift_Ins_p.P1807fs NM_002912 NP_002903 O60673 DPOLZ_HUMAN DNA polymerase zeta 1885 Mediates interaction with MAD2L2. DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding large_intestine(2)|ovary(2)|skin(2) 6 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) CTTCCCTACTTGGGGGGGACAT 0.431 NA DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 8 317 --- --- --- --- NA NA NA NA NA GRM3 2913 broad.mit.edu 37 7 86415681 86415682 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr7:86415681_86415682insC uc003uid.2 + 3 1672_1673 c.573_574insC c.(571-576)GTGCCCfs p.V191fs GRM3_uc010lef.2_Frame_Shift_Ins_p.V189fs|GRM3_uc010leg.2_Frame_Shift_Ins_p.V63fs|GRM3_uc010leh.2_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 191_192 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) CCAGGACCGTGCCCCCCGACTT 0.564 GBM(52;969 1098 3139 52280) NA 7 211 --- --- --- --- NA NA NA NA NA ZCWPW1 55063 broad.mit.edu 37 7 100000150 100000151 + Frame_Shift_Ins INS - - T TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr7:100000150_100000151insT uc003uut.2 - 16 1707_1708 c.1459_1460insA c.(1459-1461)ACCfs p.T487fs ZCWPW1_uc011kjq.1_Frame_Shift_Ins_p.T367fs|ZCWPW1_uc003uur.2_Intron|ZCWPW1_uc003uus.2_Frame_Shift_Ins_p.T367fs|ZCWPW1_uc011kjr.1_Intron|ZCWPW1_uc011kjp.1_Intron NM_017984 NP_060454 Q9H0M4 ZCPW1_HUMAN zinc finger, CW type with PWWP domain 1 487 zinc ion binding 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TCTTGGCTTGGTTTTTTGGGTC 0.48 NA 7 2142 --- --- --- --- NA NA NA NA NA SRRT 51593 broad.mit.edu 37 7 100479331 100479332 + Frame_Shift_Ins INS - - G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr7:100479331_100479332insG uc003uwy.2 + 5 571_572 c.303_304insG c.(301-306)GCTGGGfs p.A101fs SRRT_uc010lhl.1_Frame_Shift_Ins_p.A101fs|SRRT_uc003uxa.2_Frame_Shift_Ins_p.A101fs|SRRT_uc003uwz.2_Frame_Shift_Ins_p.A101fs NM_015908 NP_056992 Q9BXP5 SRRT_HUMAN arsenate resistance protein 2 isoform a 101_102 cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding ovary(2) 2 TGCCCTATGCTGGGGGGGGTGG 0.609 NA 8 83 --- --- --- --- NA NA NA NA NA AP1S1 1174 broad.mit.edu 37 7 100802404 100802405 + Frame_Shift_Ins INS - - G TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr7:100802404_100802405insG uc003uxv.3 + 4 466_467 c.356_357insG c.(355-357)ATGfs p.M119fs NM_001283 NP_001274 P61966 AP1S1_HUMAN adaptor-related protein complex 1, sigma 1 119 intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane protein binding|protein transporter activity 0 Lung NSC(181;0.168)|all_lung(186;0.215) GAGTTTTTGATGGGGGGGGATG 0.564 NA 7 49 --- --- --- --- NA NA NA NA NA C7orf58 79974 broad.mit.edu 37 7 120911387 120911388 + Frame_Shift_Ins INS - - A rs141494536 byFrequency TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr7:120911387_120911388insA uc003vjq.3 + 22 3218_3219 c.2771_2772insA c.(2770-2772)GCAfs p.A924fs NM_024913 NP_079189 A4D0V7 CG058_HUMAN hypothetical protein LOC79974 isoform 1 924 endoplasmic reticulum ovary(4)|large_intestine(2)|skin(2)|pancreas(1) 9 all_neural(327;0.117) CTGGATACTGCAAAAAAACATG 0.351 NA 8 259 --- --- --- --- NA NA NA NA NA EXOC4 60412 broad.mit.edu 37 7 133682284 133682285 + Frame_Shift_Ins INS - - C rs34608222 byFrequency TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr7:133682284_133682285insC uc003vrk.2 + 15 2281_2282 c.2246_2247insC c.(2245-2247)CTCfs p.L749fs EXOC4_uc011kpo.1_Frame_Shift_Ins_p.L648fs|EXOC4_uc003vrl.2_Frame_Shift_Ins_p.L359fs|EXOC4_uc011kpp.1_Frame_Shift_Ins_p.L281fs|EXOC4_uc011kpq.1_Frame_Shift_Ins_p.L37fs NM_021807 NP_068579 Q96A65 EXOC4_HUMAN SEC8 protein isoform a 749 vesicle docking involved in exocytosis exocyst protein N-terminus binding ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1) 9 Esophageal squamous(399;0.129) AACACGGATCTCCCCCCAGTGT 0.46 NA 8 355 --- --- --- --- NA NA NA NA NA UBN2 254048 broad.mit.edu 37 7 138946363 138946364 + Frame_Shift_Ins INS - - G rs140343844 by1000genomes TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr7:138946363_138946364insG uc011kqr.1 + 6 1271_1272 c.1271_1272insG c.(1270-1272)TCGfs p.S424fs UBN2_uc003vuv.2_Frame_Shift_Ins_p.S147fs NM_173569 NP_775840 Q6ZU65 UBN2_HUMAN ubinuclein 2 424 ovary(1)|skin(1) 2 CTATCTGAGTCGGGGGGTGAAA 0.49 NA 7 208 --- --- --- --- NA NA NA NA NA TRPV5 56302 broad.mit.edu 37 7 142612493 142612494 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr7:142612493_142612494insC uc003wby.1 - 10 1533_1534 c.1269_1270insG c.(1267-1272)GGGCCAfs p.G423fs NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, 423_424 Helical; (Potential). protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity ovary(3)|central_nervous_system(2)|skin(1) 6 Melanoma(164;0.059) ACATGGAATGGCCCCCCAAGAA 0.505 NA 8 420 --- --- --- --- NA NA NA NA NA ENTPD4 9583 broad.mit.edu 37 8 23294483 23294484 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr8:23294483_23294484insC uc003xdl.2 - 10 1501_1502 c.1337_1338insG c.(1336-1338)GGAfs p.G446fs ENTPD4_uc011kzu.1_Frame_Shift_Ins_p.G438fs|ENTPD4_uc003xdm.2_Frame_Shift_Ins_p.G438fs|ENTPD4_uc011kzv.1_Frame_Shift_Ins_p.G446fs NM_004901 NP_004892 Q9Y227 ENTP4_HUMAN ectonucleoside triphosphate diphosphohydrolase 4 446 Lumenal (Potential). UDP catabolic process autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane uridine-diphosphatase activity ovary(1)|kidney(1) 2 Prostate(55;0.114) Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649) CATTGTAGTCTCCCCCCATTCG 0.5 NA 14 441 --- --- --- --- NA NA NA NA NA ARFGEF1 10565 broad.mit.edu 37 8 68128855 68128856 + Frame_Shift_Ins INS - - G rs142098461 TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr8:68128855_68128856insG uc003xxo.1 - 33 5045_5046 c.4655_4656insC c.(4654-4656)CCAfs p.P1552fs ARFGEF1_uc003xxl.1_Frame_Shift_Ins_p.P1006fs|ARFGEF1_uc003xxn.1_Frame_Shift_Ins_p.P535fs NM_006421 NP_006412 Q9Y6D6 BIG1_HUMAN brefeldin A-inhibited guanine 1552 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1) 8 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) GAGATGGAGGTGGGGGGGCAGT 0.421 NA 23 267 --- --- --- --- NA NA NA NA NA KCNB2 9312 broad.mit.edu 37 8 73480396 73480397 + Frame_Shift_Ins INS - - A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr8:73480396_73480397insA uc003xzb.2 + 2 1015_1016 c.427_428insA c.(427-429)CAAfs p.Q143fs NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 143 Cytoplasmic (Potential). regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1) 7 Breast(64;0.137) Epithelial(68;0.105) CAGATATCATCAAAAAAAAGAA 0.446 NA 7 614 --- --- --- --- NA NA NA NA NA ABCA1 19 broad.mit.edu 37 9 107593322 107593323 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr9:107593322_107593323insC uc004bcl.2 - 14 2088_2089 c.1775_1776insG c.(1774-1776)GGCfs p.G592fs NM_005502 NP_005493 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A member 1 592 Extracellular. Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AGTAGGCGAAGCCCCCCCAGAC 0.54 NA 10 227 --- --- --- --- NA NA NA NA NA BAT2L1 84726 broad.mit.edu 37 9 134349850 134349851 + Frame_Shift_Del DEL CT CT - TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 CT CT - - CT CT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chr9:134349850_134349851delCT uc004can.3 + 15 2389_2390 c.2334_2335delCT c.(2332-2337)AGCTCTfs p.S778fs BAT2L1_uc010mzj.1_Frame_Shift_Del_p.S361fs|BAT2L1_uc004cao.3_Frame_Shift_Del_p.S136fs NM_013318 NP_037450 Q5JSZ5 PRC2B_HUMAN HLA-B associated transcript 2-like 778_779 protein binding 0 GGAATGAAAGCTCTTTCTCTGC 0.475 NA 21 87 --- --- --- --- NA NA NA NA NA PRRG1 5638 broad.mit.edu 37 X 37312610 37312611 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chrX:37312610_37312611insC uc004ddn.2 + 5 646_647 c.393_394insC c.(391-396)CCACCCfs p.P131fs PRRG1_uc004ddo.2_Frame_Shift_Ins_p.P131fs NM_000950 NP_000941 O14668 TMG1_HUMAN proline rich Gla (G-carboxyglutamic acid) 1 131_132 Cytoplasmic (Potential).|Poly-Pro. extracellular region|integral to plasma membrane calcium ion binding ovary(1)|breast(1) 2 TTATCACCCCACCCCCCCCACC 0.485 NA 8 105 --- --- --- --- NA NA NA NA NA USP9X 8239 broad.mit.edu 37 X 40982956 40982957 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chrX:40982956_40982957insC uc004dfb.2 + 2 708_709 c.75_76insC c.(73-78)CAGCCCfs p.Q25fs USP9X_uc004dfc.2_Frame_Shift_Ins_p.Q25fs NM_001039590 NP_001034679 Q93008 USP9X_HUMAN ubiquitin specific protease 9, X-linked isoform 25_26 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity lung(3)|breast(2)|ovary(1) 6 GACAGTCTCAGCCCCCCCTCCA 0.426 Ovarian(172;1807 2695 35459 49286) NA 9 138 --- --- --- --- NA NA NA NA NA Unknown 0 broad.mit.edu 37 X 48159107 48159108 + Frame_Shift_Ins INS - - G rs41305745 by1000genomes TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chrX:48159107_48159108insG uc010nib.1 - 6 512_513 c.425_426insC c.(424-426)CCGfs p.P142fs NM_174962 NP_777622 synovial sarcoma, X breakpoint 9 NA TTGGTTTTCCCGGGGGGCACAG 0.49 NA 9 344 --- --- --- --- NA NA NA NA NA SSX3 10214 broad.mit.edu 37 X 48209462 48209463 + Frame_Shift_Ins INS - - G rs6651589 byFrequency TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chrX:48209462_48209463insG uc004djd.1 - 6 519_520 c.425_426insC c.(424-426)CCGfs p.P142fs SSX3_uc004dje.2_Frame_Shift_Ins_p.P142fs NM_021014 NP_066294 Q99909 SSX3_HUMAN synovial sarcoma, X breakpoint 3 isoform a 142 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding 0 TTGGTTTTCCCGGGGGGCACAG 0.495 Colon(37;227 826 19399 40970 48007) NA 8 462 --- --- --- --- NA NA NA NA NA KIAA2022 340533 broad.mit.edu 37 X 73963268 73963269 + Frame_Shift_Ins INS - - C TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chrX:73963268_73963269insC uc004eby.2 - 3 1740_1741 c.1123_1124insG c.(1123-1125)GAGfs p.E375fs NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 375 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 TTTATCTTCCTCCCCCCAGATG 0.475 NA 13 642 --- --- --- --- NA NA NA NA NA BCORL1 63035 broad.mit.edu 37 X 129146962 129146963 + Frame_Shift_Ins INS - - G rs141901231 byFrequency TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chrX:129146962_129146963insG uc004evb.1 + 4 328_329 c.214_215insG c.(214-216)CGGfs p.R72fs BCORL1_uc010nrd.1_5'UTR NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN BCL6 co-repressor-like 1 72 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ovary(4)|breast(2)|lung(1) 7 CAGCAATGCCCGGGGGGCAGAC 0.569 NA 10 297 --- --- --- --- NA NA NA NA NA GPR112 139378 broad.mit.edu 37 X 135426885 135426886 + Frame_Shift_Ins INS - - A TCGA-64-1678-01A-01W-0928-08 TCGA-64-1678-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42e3b592-b57f-4b18-8f62-e7b0a9c0f1db c705e3ce-3e8c-497a-8091-04fd4d369afd g.chrX:135426885_135426886insA uc004ezu.1 + 6 1311_1312 c.1020_1021insA c.(1018-1023)ATGAAAfs p.M340fs GPR112_uc010nsb.1_Frame_Shift_Ins_p.M135fs|GPR112_uc010nsc.1_Frame_Shift_Ins_p.M107fs NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 340_341 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) CCAATTCCATGAAAAAAACGAA 0.386 NA 8 641 --- --- --- --- NA NA NA NA NA