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 LOC440563 440563 broad.mit.edu 37 1 13183423 13183423 + Silent SNP T T C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:13183423T>C uc010obg.1 - 1 545 c.450A>G c.(448-450)GGA>GGG p.G150G NM_001136561 NP_001130033 B2RXH8 B2RXH8_HUMAN heterogeneous nuclear ribonucleoprotein C-like 150 ribonucleoprotein complex nucleic acid binding|nucleotide binding 0 GTGAGGTGTTTCCTGATATGC 0.502 NA 34 313 0 0 0.003271 0 0 USP48 84196 broad.mit.edu 37 1 22078009 22078009 + Silent SNP T T C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:22078009T>C uc001bfb.2 - 6 1003 c.765A>G c.(763-765)GAA>GAG p.E255E USP48_uc010odq.1_Silent_p.E255E|USP48_uc009vqc.2_Silent_p.E255E|USP48_uc001bfc.2_Silent_p.E255E|USP48_uc001bfe.1_Silent_p.E255E|USP48_uc001bff.2_Silent_p.E255E NM_032236 NP_115612 Q86UV5 UBP48_HUMAN ubiquitin specific protease 48 isoform a 255 ubiquitin-dependent protein catabolic process mitochondrion|nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(1)|lung(1) 2 Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753) CCTTCAAAAATTCCGAGATAC 0.368 NA 8 76 0 0 0.004482 0 0 ZSWIM5 57643 broad.mit.edu 37 1 45500130 45500130 + Missense_Mutation SNP A A G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:45500130A>G uc001cnd.2 - 11 2531 c.2303T>C c.(2302-2304)TTA>TCA p.L768S NM_020883 NP_065934 Q9P217 ZSWM5_HUMAN zinc finger, SWIM domain containing 5 768 zinc ion binding 0 Acute lymphoblastic leukemia(166;0.155) TGAGTTTTCTAAAACAGGTAA 0.542 NA 25 48 0 0 0.005443 0 0 DMBX1 127343 broad.mit.edu 37 1 46976691 46976691 + Nonsense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:46976691G>T uc001cpx.2 + 3 448 c.433G>T c.(433-435)GAG>TAG p.E145* DMBX1_uc001cpw.2_Nonsense_Mutation_p.E140* NM_147192 NP_671725 Q8NFW5 DMBX1_HUMAN diencephalon/mesencephalon homeobox 1 isoform b 145 Interacts with OXT2 and is required for repressor activity (By similarity). brain development|developmental growth|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) GAAGGAGGCTGAGGGCTCCCA 0.647 NA 19 29 2.89027e-11 4.66107e-11 0.002299 1 0 ACADM 34 broad.mit.edu 37 1 76205735 76205735 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:76205735G>T uc001dgw.3 + 7 969 c.539G>T c.(538-540)GGA>GTA p.G180V ACADM_uc010orc.1_3'UTR|ACADM_uc010ord.1_Missense_Mutation_p.G94V|ACADM_uc009wbp.2_Missense_Mutation_p.G184V|ACADM_uc009wbr.2_Missense_Mutation_p.G213V|ACADM_uc010ore.1_Missense_Mutation_p.G144V|ACADM_uc010orf.1_5'UTR|ACADM_uc001dgx.3_Missense_Mutation_p.G94V|ACADM_uc010org.1_Missense_Mutation_p.G50V NM_000016 NP_000007 P11310 ACADM_HUMAN medium-chain acyl-CoA dehydrogenase isoform a 180 carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process mitochondrial matrix flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity breast(2)|ovary(1)|skin(1) 4 GAAAAGAAAGGAGATGAGTAT 0.328 NA 4 13 0.00024832 0.000318573 0.000248 1 0 ST6GALNAC3 256435 broad.mit.edu 37 1 76877814 76877815 + Missense_Mutation DNP CC CC AA TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:76877814_76877815CC>AA uc001dhh.2 + 3 498_499 c.335_336CC>AA c.(334-336)ACC>AAA p.T112K ST6GALNAC3_uc001dhg.3_Missense_Mutation_p.T112K|ST6GALNAC3_uc010orh.1_Missense_Mutation_p.T47K NM_152996 NP_694541 Q8NDV1 SIA7C_HUMAN sialyltransferase 7C isoform 1 112 Lumenal (Potential). protein glycosylation integral to Golgi membrane sialyltransferase activity ovary(3)|skin(2) 5 AATGCCCCCACCAAAGGTTATG 0.455 NA 24 47 0 0 0.004672 0 0 FAM73A 374986 broad.mit.edu 37 1 78269059 78269059 + Nonsense_Mutation SNP A A T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:78269059A>T uc001dhx.2 + 4 510 c.478A>T c.(478-480)AAA>TAA p.K160* FAM73A_uc010ork.1_Nonsense_Mutation_p.K160*|FAM73A_uc010orl.1_Nonsense_Mutation_p.K122*|FAM73A_uc001dhy.1_5'UTR NM_198549 NP_940951 Q8NAN2 FA73A_HUMAN hypothetical protein LOC374986 160 integral to membrane ovary(1) 1 Colorectal(170;0.226) ACTTTTCAGTAAATATTCAGG 0.299 NA 11 14 0 0 0.001368 0 0 RPF1 80135 broad.mit.edu 37 1 84956127 84956127 + Silent SNP T T A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:84956127T>A uc001djv.3 + 5 633 c.588T>A c.(586-588)ATT>ATA p.I196I NM_025065 NP_079341 Q9H9Y2 RPF1_HUMAN RNA processing factor 1 196 Brix. rRNA processing|translation nucleolus aminoacyl-tRNA ligase activity|ATP binding|rRNA binding 0 CAGACCTGATTGTTATTAATG 0.358 NA 17 33 0 0 0.008871 0 0 LPPR4 9890 broad.mit.edu 37 1 99771281 99771281 + Missense_Mutation SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:99771281G>A uc001dse.2 + 7 1113 c.1007G>A c.(1006-1008)AGT>AAT p.S336N LPPR4_uc010oue.1_Missense_Mutation_p.S278N NM_014839 NP_055654 Q7Z2D5 LPPR4_HUMAN plasticity related gene 1 336 phosphatidate phosphatase activity ovary(3) 3 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) AGTGATGAGAGTATGTTTCAG 0.448 NA 11 96 0 0 0.001368 0 0 VCAM1 7412 broad.mit.edu 37 1 101188624 101188624 + Missense_Mutation SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:101188624G>A uc001dti.2 + 3 509 c.389G>A c.(388-390)GGG>GAG p.G130E VCAM1_uc001dtj.2_Missense_Mutation_p.G130E|VCAM1_uc010ouj.1_Missense_Mutation_p.G68E NM_001078 NP_001069 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 isoform a 130 Ig-like C2-type 2.|Extracellular (Potential). heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(1) 1 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) CTGGAGGCTGGGAAGCCGATC 0.438 NA 8 25 0 0 0.00308 0 0 VAV3 10451 broad.mit.edu 37 1 108507383 108507383 + Missense_Mutation SNP G G C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:108507383G>C uc001dvk.1 - 1 163 c.109C>G c.(109-111)CTC>GTC p.L37V VAV3_uc010ouw.1_Missense_Mutation_p.L37V|VAV3_uc001dvl.1_5'Flank|VAV3_uc010oux.1_Missense_Mutation_p.L37V NM_006113 NP_006104 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor isoform 37 CH. angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(5)|lung(2)|breast(2) 9 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) CCATCGCGGAGGGTCTGCGCA 0.622 NA 10 35 0 0 0.008291 0 0 SLC16A1 6566 broad.mit.edu 37 1 113459922 113459922 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:113459922C>A uc001ecx.2 - 4 1938 c.1106G>T c.(1105-1107)TGG>TTG p.W369L SLC16A1_uc001ecy.2_Missense_Mutation_p.W369L|SLC16A1_uc001ecz.2_Missense_Mutation_p.W369L NM_003051 NP_003042 P53985 MOT1_HUMAN solute carrier family 16, member 1 369 Helical; (Potential). blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process integral to membrane|membrane fraction|plasma membrane mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity central_nervous_system(1) 1 Lung SC(450;0.246) all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232) Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643) Pyruvic acid(DB00119) GGAGCTGAGCCACCCGAAGGC 0.488 NA 10 15 1.76689e-08 2.65324e-08 0.006214 1 0 TSHB 7252 broad.mit.edu 37 1 115576107 115576107 + Missense_Mutation SNP A A G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:115576107A>G uc001efs.1 + 2 192 c.124A>G c.(124-126)ATC>GTC p.I42V NM_000549 NP_000540 P01222 TSHB_HUMAN thyroid stimulating hormone, beta precursor 42 anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|G-protein coupled receptor protein signaling pathway|hormone biosynthetic process|peptide hormone processing extracellular region hormone activity 0 Lung SC(450;0.211) all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) TTGCCTAACCATCAACACCAC 0.418 NA 12 65 0 0 0.001368 0 0 RPRD2 23248 broad.mit.edu 37 1 150444633 150444633 + Missense_Mutation SNP C C G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:150444633C>G uc009wlr.2 + 11 3410 c.3209C>G c.(3208-3210)TCC>TGC p.S1070C RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.3_Missense_Mutation_p.S1044C NM_015203 NP_056018 Q5VT52 RPRD2_HUMAN Regulation of nuclear pre-mRNA domain containing 1070 protein binding ovary(1) 1 GTCTCCTCCTCCTGCTTAGAC 0.532 NA 5 87 0 0 0.000602 0 0 TCHHL1 126637 broad.mit.edu 37 1 152059651 152059651 + Silent SNP T T A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:152059651T>A uc001ezo.1 - 3 572 c.507A>T c.(505-507)CCA>CCT p.P169P NM_001008536 NP_001008536 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 169 calcium ion binding ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) ATGCTTCTCCTGGAAAGTTGT 0.443 NA 36 58 0 0 0.004878 0 0 FLG2 388698 broad.mit.edu 37 1 152327652 152327652 + Silent SNP G G A rs12737224 TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:152327652G>A uc001ezw.3 - 3 2683 c.2610C>T c.(2608-2610)GGC>GGT p.G870G uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 870 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) GTTGTCCAAAGCCAGATGTCT 0.502 NA 69 435 0 0 0.00361 0 0 LCE2D 353141 broad.mit.edu 37 1 152636910 152636910 + Missense_Mutation SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:152636910G>A uc001fag.2 + 2 384 c.329G>A c.(328-330)TGC>TAC p.C110Y NM_178430 NP_848517 Q5TA82 LCE2D_HUMAN late cornified envelope 2D 110 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) GGGGGCTGCTGCTGACCTGGG 0.587 NA 39 56 0 0 0.006999 0 0 OR10J5 127385 broad.mit.edu 37 1 159505512 159505512 + Missense_Mutation SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:159505512C>T uc010piw.1 - 1 286 c.286G>A c.(286-288)GGC>AGC p.G96S NM_001004469 NP_001004469 Q8NHC4 O10J5_HUMAN olfactory receptor, family 10, subfamily J, 96 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_hematologic(112;0.0429) GTAGCACAGCCTGCCAAGGAG 0.463 NA 19 59 0 0 0.008871 0 0 NME7 29922 broad.mit.edu 37 1 169292473 169292473 + Missense_Mutation SNP T T A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:169292473T>A uc001gfu.2 - 3 398 c.160A>T c.(160-162)AAC>TAC p.N54Y NME7_uc010plq.1_RNA|NME7_uc001gft.2_Missense_Mutation_p.N18Y|NME7_uc001gfv.1_Missense_Mutation_p.N54Y NM_013330 NP_037462 Q9Y5B8 NDK7_HUMAN nucleoside diphosphate kinase 7 isoform a 54 DM10. CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process centrosome ATP binding|metal ion binding|nucleoside diphosphate kinase activity central_nervous_system(1) 1 all_hematologic(923;0.208) AAGTGCAGGTTATCATATTTG 0.348 NA 20 164 0 0 0.00278 0 0 TNR 7143 broad.mit.edu 37 1 175355258 175355258 + Missense_Mutation SNP C C G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:175355258C>G uc001gkp.1 - 6 1768 c.1687G>C c.(1687-1689)GCC>CCC p.A563P TNR_uc009wwu.1_Missense_Mutation_p.A563P NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 563 Fibronectin type-III 3. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) GGCCGCAGGGCCTGCACTGAG 0.592 NA 34 66 0 0 0.002096 0 0 ASTN1 460 broad.mit.edu 37 1 176863850 176863850 + Missense_Mutation SNP G G T rs147140947 byFrequency TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:176863850G>T uc001glc.2 - 17 3000 c.2788C>A c.(2788-2790)CGC>AGC p.R930S ASTN1_uc001glb.1_Missense_Mutation_p.R930S|ASTN1_uc001gld.1_Missense_Mutation_p.R930S NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 938 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 CACTCCATGCGGACTCCAGCC 0.607 NA 20 94 2.41591e-17 4.42595e-17 0.004656 1 0 NPHS2 7827 broad.mit.edu 37 1 179521776 179521777 + Missense_Mutation DNP CC CC AG TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:179521776_179521777CC>AG uc001gmq.3 - 7 919_920 c.834_835GG>CT c.(832-837)CTGGCT>CTCTCT p.A279S C1orf125_uc009wxg.2_Intron|C1orf125_uc001gmo.2_Intron|C1orf125_uc001gmp.2_Intron|C1orf125_uc009wxh.2_Intron|NPHS2_uc009wxi.2_Missense_Mutation_p.A211S|C1orf125_uc001gmr.2_RNA NM_014625 NP_055440 Q9NP85 PODO_HUMAN podocin 279 Cytoplasmic (Potential). excretion integral to plasma membrane protein binding 0 GCCTCCACAGCCAGTGAGTGCT 0.525 NA 6 53 0 0 0.004672 0 0 CACNA1E 777 broad.mit.edu 37 1 181693670 181693670 + Silent SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:181693670C>A uc001gow.2 + 17 2304 c.2139C>A c.(2137-2139)ACC>ACA p.T713T CACNA1E_uc009wxs.2_Silent_p.T620T NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 713 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 AGGAACTGACCAAGGTAAGCA 0.463 NA 7 18 1.06961e-07 1.58538e-07 0.00308 1 0 CACNA1E 777 broad.mit.edu 37 1 181764047 181764047 + Silent SNP G G C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:181764047G>C uc001gow.2 + 45 6111 c.5946G>C c.(5944-5946)CGG>CGC p.R1982R CACNA1E_uc009wxs.2_Silent_p.R1870R|CACNA1E_uc009wxt.2_Silent_p.R1251R NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 2025 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 CCACTATTCGGGATAAGCGTT 0.483 NA 23 30 0 0 0.002299 0 0 ASPM 259266 broad.mit.edu 37 1 197062214 197062214 + Missense_Mutation SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:197062214C>T uc001gtu.2 - 21 9519 c.9262G>A c.(9262-9264)GCA>ACA p.A3088T ASPM_uc001gtv.2_Missense_Mutation_p.A1503T|ASPM_uc001gtw.3_Missense_Mutation_p.A936T NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 3088 IQ 37. mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 CGCACCAGTGCTTGTAGGATA 0.333 NA 27 27 0 0 0.008361 0 0 DENND1B 163486 broad.mit.edu 37 1 197522116 197522116 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:197522116G>T uc001guf.3 - 16 1614 c.1276C>A c.(1276-1278)CAA>AAA p.Q426K DENND1B_uc010ppe.1_Intron|DENND1B_uc010ppf.1_Intron|DENND1B_uc001gue.3_Missense_Mutation_p.Q396K NM_144977 NP_659414 Q6P3S1 DEN1B_HUMAN DENN/MADD domain containing 1B isoform 2 426 clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity 0 AATTGTTATTGAGAAAATGGA 0.318 NA 5 35 0.000602214 0.000755655 0.000602 1 0 CACNA1S 779 broad.mit.edu 37 1 201028356 201028356 + Silent SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:201028356G>T uc001gvv.2 - 27 3713 c.3486C>A c.(3484-3486)ACC>ACA p.T1162T NM_000069 NP_000060 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, 1162 IV.|Helical; Name=S2 of repeat IV; (Potential). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity ovary(3)|central_nervous_system(1)|skin(1) 5 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TCATCTCCAGGGTGAAGATGA 0.582 NA 27 40 1.17739e-12 1.97526e-12 0.005443 1 0 CACNA1S 779 broad.mit.edu 37 1 201046253 201046253 + Missense_Mutation SNP T T A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:201046253T>A uc001gvv.2 - 12 1849 c.1622A>T c.(1621-1623)TAT>TTT p.Y541F NM_000069 NP_000060 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, 541 II.|Helical; Name=S4 of repeat II; (Potential). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity ovary(3)|central_nervous_system(1)|skin(1) 5 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CGACGTCCAATATCTGAAGGA 0.592 NA 5 35 0 0 0.001168 0 0 NAV1 89796 broad.mit.edu 37 1 201749685 201749685 + Missense_Mutation SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:201749685G>A uc001gwu.2 + 4 1710 c.1363G>A c.(1363-1365)GTG>ATG p.V455M NAV1_uc001gwv.1_Translation_Start_Site|NAV1_uc001gww.1_Missense_Mutation_p.V64M|NAV1_uc001gwx.2_Missense_Mutation_p.V64M|NAV1_uc001gwy.1_5'Flank NM_020443 NP_065176 Q8NEY1 NAV1_HUMAN neuron navigator 1 455 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding central_nervous_system(3)|ovary(1) 4 CTCAACAATAGTGGTACGTGA 0.498 NA 21 65 0 0 0.00333 0 0 PIGR 5284 broad.mit.edu 37 1 207112529 207112529 + Missense_Mutation SNP T T C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:207112529T>C uc001hez.2 - 3 507 c.323A>G c.(322-324)TAC>TGC p.Y108C PIGR_uc009xbz.2_Missense_Mutation_p.Y108C NM_002644 NP_002635 P01833 PIGR_HUMAN polymeric immunoglobulin receptor precursor 108 Ig-like V-type 1.|Extracellular (Potential). extracellular region|integral to plasma membrane protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 GCCACACTTGTAGCGCCCGGA 0.572 NA 3 61 0 0 0.004672 0 0 USH2A 7399 broad.mit.edu 37 1 216270486 216270486 + Missense_Mutation SNP T T A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:216270486T>A uc001hku.1 - 22 5084 c.4697A>T c.(4696-4698)CAG>CTG p.Q1566L NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1566 Laminin G-like 1.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ATACTCTTCCTGATTGCCAGG 0.353 NA HNSCC(13;0.011) 6 43 0 0 0.001984 0 0 GPATCH2 55105 broad.mit.edu 37 1 217604634 217604634 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:217604634C>A uc001hlf.1 - 10 1536 c.1440G>T c.(1438-1440)TGG>TGT p.W480C NM_018040 NP_060510 Q9NW75 GPTC2_HUMAN G patch domain containing 2 480 G-patch. intracellular nucleic acid binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872) ACCCAGGCGTCCAGCCCATAT 0.463 NA 61 83 1.22119e-34 2.44238e-34 0.00361 1 0 HIST3H2A 92815 broad.mit.edu 37 1 228645213 228645213 + Silent SNP G G C rs142593528 TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:228645213G>C uc001hsy.2 - 1 348 c.306C>G c.(304-306)ACC>ACG p.T102T HIST3H2BB_uc001hsz.2_5'Flank NM_033445 NP_254280 Q7L7L0 H2A3_HUMAN histone cluster 3, H2a 102 nucleosome assembly nucleosome|nucleus DNA binding ovary(1) 1 Prostate(94;0.183) CCTGCGCGATGGTCACGCGGC 0.612 NA 24 74 0 0 0.00278 0 0 RYR2 6262 broad.mit.edu 37 1 237754280 237754280 + Missense_Mutation SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:237754280G>A uc001hyl.1 + 31 4268 c.4148G>A c.(4147-4149)CGT>CAT p.R1383H NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1383 Cytoplasmic (By similarity).|B30.2/SPRY 3.|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AAGCCCTCTCGTCTGAAACAA 0.398 NA 10 26 0 0 0.008291 0 0 NLRP3 114548 broad.mit.edu 37 1 247611773 247611773 + Silent SNP T T C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:247611773T>C uc001icr.2 + 11 3216 c.3078T>C c.(3076-3078)CCT>CCC p.P1026P NLRP3_uc001ics.2_Silent_p.P969P|NLRP3_uc001icu.2_Silent_p.P1026P|NLRP3_uc001icw.2_Silent_p.P969P|NLRP3_uc001icv.2_Silent_p.P912P|NLRP3_uc010pyw.1_Silent_p.P1004P NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 1026 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) AAGAAAAGCCTGAGCTGACCG 0.502 NA 22 30 0 0 0.00278 0 0 OR2W3 343171 broad.mit.edu 37 1 248059177 248059177 + Missense_Mutation SNP T T A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:248059177T>A uc001idp.1 + 3 558 c.289T>A c.(289-291)TGT>AGT p.C97S OR2W3_uc010pzb.1_Missense_Mutation_p.C97S NM_001001957 NP_001001957 Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, 97 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|pancreas(1) 3 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CTACATGGGCTGTGCCATCCA 0.572 NA 30 78 0 0 0.002445 0 0 OR2L3 391192 broad.mit.edu 37 1 248224272 248224272 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:248224272G>T uc001idx.1 + 1 289 c.289G>T c.(289-291)GGG>TGG p.G97W OR2L13_uc001ids.2_Intron NM_001004687 NP_001004687 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, 97 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) CACTGGGTGTGGGATTCAGAG 0.433 NA 71 168 1.05635e-38 2.13131e-38 0.00361 1 0 OR2L13 284521 broad.mit.edu 37 1 248263215 248263215 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:248263215G>T uc001ids.2 + 3 875 c.538G>T c.(538-540)GTC>TTC p.V180F NM_175911 NP_787107 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, 180 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding central_nervous_system(2)|ovary(1)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) CTTCTGCGATGTCCCAGCCAT 0.458 NA 58 125 8.4772e-36 1.70288e-35 0.00361 1 0 OR2T4 127074 broad.mit.edu 37 1 248524987 248524987 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:248524987G>T uc001ieh.1 + 1 105 c.105G>T c.(103-105)ATG>ATT p.M35I NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, 35 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCACCTGGATGGCCAACCACA 0.478 NA 32 51 4.74835e-14 8.23768e-14 0.002096 1 0 OR2T1 26696 broad.mit.edu 37 1 248569881 248569881 + Missense_Mutation SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:248569881G>A uc010pzm.1 + 1 586 c.586G>A c.(586-588)GCA>ACA p.A196T NM_030904 NP_112166 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, 196 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GATGATTATAGCAGGTTCCTG 0.542 NA 19 62 0 0 0.007413 0 0 AKR1C1 1645 broad.mit.edu 37 10 5014794 5014794 + Silent SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr10:5014794G>T uc001iho.2 + 12 1540 c.699G>T c.(697-699)CCG>CCT p.P233P AKR1E2_uc001ihl.1_Intron|AKR1C2_uc010qan.1_Intron|AKR1C3_uc001ihr.2_Intron|AKR1C1_uc001ihq.2_Silent_p.P233P NM_001353 NP_001344 Q04828 AK1C1_HUMAN aldo-keto reductase family 1, member C1 233 NADP (By similarity). bile acid and bile salt transport|bile acid metabolic process|cholesterol homeostasis|intestinal cholesterol absorption|protein homooligomerization|response to organophosphorus|xenobiotic metabolic process cytosol 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid binding|indanol dehydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity ovary(2) 2 NADH(DB00157) CGAACTCCCCGGTGCTCTTGG 0.592 Colon(130;2054 2316 13360 15380) NA 22 100 1.39806e-14 2.46273e-14 0.008361 1 0 ITIH5 80760 broad.mit.edu 37 10 7679399 7679399 + Silent SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr10:7679399G>T uc001ijq.2 - 5 523 c.444C>A c.(442-444)CCC>CCA p.P148P ITIH5_uc001ijr.1_Silent_p.P148P NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN inter-alpha trypsin inhibitor heavy chain 148 VIT. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2) 4 TGTCCTTGCTGGGAATCACTG 0.547 NA 10 52 1.33987e-11 2.19165e-11 0.008291 1 0 ITGA8 8516 broad.mit.edu 37 10 15655678 15655678 + Missense_Mutation SNP A A G rs139049697 byFrequency TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr10:15655678A>G uc001ioc.1 - 15 1534 c.1534T>C c.(1534-1536)TCT>CCT p.S512P ITGA8_uc010qcb.1_Missense_Mutation_p.S497P NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 512 Extracellular (Potential). cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 GATGTCATAGAGTCTGGAACC 0.313 NA 4 134 0 0 0.000248 0 0 NEBL 10529 broad.mit.edu 37 10 21115394 21115394 + Missense_Mutation SNP A A C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr10:21115394A>C uc001iqi.2 - 18 2248 c.1851T>G c.(1849-1851)AAT>AAG p.N617K NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron|NEBL_uc001iql.1_RNA NM_006393 NP_006384 O76041 NEBL_HUMAN nebulette sarcomeric isoform 617 Nebulin 17. regulation of actin filament length actin binding|structural constituent of muscle ovary(2) 2 TATTCTGCTGATTTTTCTTCA 0.323 NA 8 90 0 0 0.006214 0 0 ZNF488 118738 broad.mit.edu 37 10 48371133 48371133 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr10:48371133C>A uc001jex.2 + 2 763 c.601C>A c.(601-603)CTC>ATC p.L201I ZNF488_uc001jey.2_Missense_Mutation_p.L94I NM_153034 NP_694579 Q96MN9 ZN488_HUMAN zinc finger protein 488 201 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CACTACAGACCTCGCTTGTTG 0.532 NA 20 44 0.00229938 0.00280084 0.002299 1 0 GDF10 2662 broad.mit.edu 37 10 48428987 48428987 + Missense_Mutation SNP T T A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr10:48428987T>A uc001jfb.2 - 2 1355 c.899A>T c.(898-900)GAC>GTC p.D300V GDF10_uc009xnp.2_Missense_Mutation_p.D299V|GDF10_uc009xnq.1_Missense_Mutation_p.D300V NM_004962 NP_004953 P55107 BMP3B_HUMAN growth differentiation factor 10 precursor 300 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity lung(1)|central_nervous_system(1) 2 CAGCTCGTTGTCCTGGAGGGG 0.741 NA 6 9 0 0 0.001984 0 0 LRRC18 474354 broad.mit.edu 37 10 50121487 50121487 + Silent SNP G G C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr10:50121487G>C uc001jhd.2 - 1 794 c.714C>G c.(712-714)CCC>CCG p.P238P WDFY4_uc001jha.3_Intron|LRRC18_uc001jhe.1_Silent_p.P238P NM_001006939 NP_001006940 Q8N456 LRC18_HUMAN leucine rich repeat containing 18 238 cytoplasm ovary(1)|pancreas(1) 2 AGATCAGATTGGGAAAGATGG 0.527 NA 51 97 0 0 0.00361 0 0 ZWINT 11130 broad.mit.edu 37 10 58119454 58119454 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr10:58119454C>A uc001jjx.1 - 4 454 c.417G>T c.(415-417)CAG>CAT p.Q139H ZWINT_uc001jjy.1_Missense_Mutation_p.Q139H|ZWINT_uc001jka.1_Missense_Mutation_p.Q139H|ZWINT_uc009xoy.1_RNA NM_007057 NP_008988 O95229 ZWINT_HUMAN ZW10 interactor isoform a 139 Interaction with NDC80 and ZW10.|Potential. cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytosol|nucleus protein N-terminus binding 0 GTACCTTGGCCTGGAGCTGCT 0.552 NA 20 212 4.30721e-22 8.32363e-22 0.001523 1 0 ANK3 288 broad.mit.edu 37 10 61830089 61830089 + Missense_Mutation SNP T T A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr10:61830089T>A uc001jky.2 - 37 10742 c.10550A>T c.(10549-10551)GAT>GTT p.D3517V ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 3517 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 GAAGTAAGTATCAGGAAACAC 0.423 NA 19 48 0 0 0.008871 0 0 JMJD1C 221037 broad.mit.edu 37 10 64958312 64958312 + Missense_Mutation SNP T T A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr10:64958312T>A uc001jmn.2 - 12 5752 c.5452A>T c.(5452-5454)ACA>TCA p.T1818S JMJD1C_uc001jml.2_Missense_Mutation_p.T1599S|JMJD1C_uc001jmm.2_Missense_Mutation_p.T1530S|JMJD1C_uc010qiq.1_Missense_Mutation_p.T1636S|JMJD1C_uc009xpi.2_Missense_Mutation_p.T1636S|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Intron NM_032776 NP_116165 Q15652 JHD2C_HUMAN jumonji domain containing 1C isoform a 1818 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding ovary(4)|breast(1)|central_nervous_system(1) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) TTTTCAGATGTTACTAATTGA 0.299 NA 42 74 0 0 0.002522 0 0 TMEM20 159371 broad.mit.edu 37 10 95661084 95661084 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr10:95661084G>T uc001kjg.1 + 3 996 c.935G>T c.(934-936)GGG>GTG p.G312V TMEM20_uc001kji.2_Intron|TMEM20_uc001kjf.1_Missense_Mutation_p.G311V|TMEM20_uc001kjh.2_Intron|TMEM20_uc010qnw.1_Missense_Mutation_p.G295V|TMEM20_uc001kjj.2_Intron NM_001134658 NP_001128130 Q2M3R5 TMM20_HUMAN transmembrane protein 20 isoform 1 312 Helical; (Potential).|DUF6 2. integral to membrane upper_aerodigestive_tract(1) 1 Colorectal(252;3.46e-05)|Renal(717;0.018)|Ovarian(717;0.0228)|all_hematologic(284;0.189) STAD - Stomach adenocarcinoma(243;0.00345) GAAAAAGCAGGGCCAGTAGCA 0.408 NA 14 32 0.00185496 0.00228995 0.001855 1 0 PLCE1 51196 broad.mit.edu 37 10 96068457 96068457 + Splice_Site SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr10:96068457G>T uc001kjk.2 + 27 6637 c.6003_splice c.e27+1 p.S2001_splice PLCE1_uc010qnx.1_Splice_Site_p.S1985_splice|PLCE1_uc001kjm.2_Splice_Site_p.S1693_splice|PLCE1_uc001kjp.2_Splice_Site_p.S359_splice NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity ovary(2)|skin(1) 3 Colorectal(252;0.0458) AGCCTCTTCGGTAATGAAGTT 0.408 NA 20 64 3.8784e-16 6.99334e-16 0.001882 1 0 ENTPD1 953 broad.mit.edu 37 10 97626107 97626107 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr10:97626107C>A uc001klh.3 + 10 1824 c.1500C>A c.(1498-1500)CAC>CAA p.H500Q ENTPD1_uc001kli.3_Missense_Mutation_p.H507Q|uc001klg.1_Intron|ENTPD1_uc010qoj.1_Missense_Mutation_p.H512Q|ENTPD1_uc010qok.1_Missense_Mutation_p.H392Q|ENTPD1_uc010qol.1_Missense_Mutation_p.H392Q|ENTPD1_uc010qom.1_Missense_Mutation_p.H459Q|ENTPD1_uc010qon.1_Missense_Mutation_p.H362Q|ENTPD1_uc009xva.2_Missense_Mutation_p.H362Q|ENTPD1_uc009xuz.2_RNA NM_001776 NP_001767 P49961 ENTP1_HUMAN ectonucleoside triphosphate diphosphohydrolase 1 500 Cytoplasmic (Potential). cell adhesion integral to plasma membrane ATP binding ovary(3) 3 Colorectal(252;0.0821) Epithelial(162;1.31e-07)|all cancers(201;5.33e-06) TTATCTTTCACAAGCCTTCAT 0.453 NA 19 37 0.00188189 0.00231695 0.001882 1 0 TM9SF3 56889 broad.mit.edu 37 10 98311156 98311156 + Nonsense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr10:98311156C>A uc001kmm.3 - 7 1022 c.805G>T c.(805-807)GGA>TGA p.G269* TM9SF3_uc010qot.1_Nonsense_Mutation_p.G269*|TM9SF3_uc001kmn.1_Nonsense_Mutation_p.G38* NM_020123 NP_064508 Q9HD45 TM9S3_HUMAN transmembrane 9 superfamily member 3 precursor 269 integral to membrane binding 0 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) TATTCATCTCCTAGGTCTCTA 0.328 NA 16 36 1.15088e-07 1.68403e-07 0.004007 1 0 SCD 6319 broad.mit.edu 37 10 102107276 102107276 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr10:102107276G>T uc001kqy.2 + 1 505 c.15G>T c.(13-15)TTG>TTT p.L5F NM_005063 NP_005054 O00767 ACOD_HUMAN stearoyl-CoA desaturase 1 5 Cytoplasmic (Potential). L -> M (in Ref. 11; AAB30631). fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane iron ion binding|stearoyl-CoA 9-desaturase activity 0 Colorectal(252;0.0323) Epithelial(162;1.97e-10)|all cancers(201;1.73e-08) CGGCCCACTTGCTGCAGGACG 0.682 Colon(67;260 1459 9574 11663) NA 12 35 2.31682e-05 3.04915e-05 0.003163 1 0 ATRNL1 26033 broad.mit.edu 37 10 116919973 116919973 + Silent SNP A A C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr10:116919973A>C uc001lcg.2 + 6 1388 c.1002A>C c.(1000-1002)CTA>CTC p.L334L ATRNL1_uc001lce.2_RNA|ATRNL1_uc001lcf.2_Silent_p.L334L|ATRNL1_uc009xyq.2_Silent_p.L334L NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 334 Extracellular (Potential).|Kelch 1. integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) AAATGGTCCTAAAGTAAGTAT 0.323 NA 33 73 0 0 0.003755 0 0 PNLIPRP1 5407 broad.mit.edu 37 10 118364984 118364984 + Nonsense_Mutation SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr10:118364984G>A uc001lco.1 + 12 1277 c.1259G>A c.(1258-1260)TGG>TAG p.W420* PNLIPRP1_uc001lcp.2_Nonsense_Mutation_p.W420* NM_006229 NP_006220 P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 precursor 420 PLAT. lipid metabolic process calcium ion binding|triglyceride lipase activity ovary(1)|breast(1) 2 all cancers(201;0.0161) AAGTTTCTTTGGAATAACAAT 0.428 NA 5 49 0 0 0.001168 0 0 PNLIPRP2 5408 broad.mit.edu 37 10 118385455 118385455 + Splice_Site SNP A A T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr10:118385455A>T uc001lcq.2 + 6 231 c.208_splice c.e6-2 p.L70_splice PNLIPRP2_uc009xyu.1_Splice_Site|PNLIPRP2_uc009xyv.1_Splice_Site NM_005396 NP_005387 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity large_intestine(1) 1 all cancers(201;0.015) AAATTAAACCAGCTAATCACT 0.438 NA 20 22 0 0 0.001523 0 0 TACC2 10579 broad.mit.edu 37 10 123987490 123987490 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr10:123987490G>T uc001lfv.2 + 14 8223 c.7863G>T c.(7861-7863)ATG>ATT p.M2621I TACC2_uc001lfw.2_Missense_Mutation_p.M767I|TACC2_uc009xzx.2_Missense_Mutation_p.M2576I|TACC2_uc010qtv.1_Missense_Mutation_p.M2625I|TACC2_uc001lfx.2_Missense_Mutation_p.M325I|TACC2_uc001lfy.2_Missense_Mutation_p.M321I|TACC2_uc001lfz.2_Missense_Mutation_p.M699I|TACC2_uc001lga.2_Missense_Mutation_p.M699I|TACC2_uc009xzy.2_Missense_Mutation_p.M711I|TACC2_uc001lgb.2_Missense_Mutation_p.M656I NM_206862 NP_996744 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing 2621 microtubule organizing center|nucleus nuclear hormone receptor binding ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) TGGAGGCCATGGGCTTGGGCA 0.567 NA 21 76 2.89027e-11 4.66107e-11 0.002299 1 0 NUP98 4928 broad.mit.edu 37 11 3740728 3740728 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:3740728C>A uc001lyh.2 - 18 2604 c.2313G>T c.(2311-2313)TTG>TTT p.L771F NUP98_uc001lyi.2_Missense_Mutation_p.L771F|NUP98_uc001lyj.1_Missense_Mutation_p.L771F|NUP98_uc001lyk.1_Missense_Mutation_p.L788F NM_016320 NP_057404 P52948 NUP98_HUMAN nucleoporin 98kD isoform 1 788 Peptidase S59. carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1) 12 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) CAATATCATCCAAATTTAGAT 0.333 NA T HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11 AML 20 31 5.03518e-11 8.00734e-11 0.007413 1 0 OR52M1 119772 broad.mit.edu 37 11 4566822 4566822 + Silent SNP T T C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:4566822T>C uc010qyf.1 + 1 402 c.402T>C c.(400-402)CAT>CAC p.H134H NM_001004137 NP_001004137 Q8NGK5 O52M1_HUMAN olfactory receptor, family 52, subfamily M, 134 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) CACTACGTCATAGCATGGTGC 0.527 NA 9 49 0 0 0.004482 0 0 C11orf40 143501 broad.mit.edu 37 11 4594548 4594548 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:4594548C>A uc010qyg.1 - 2 296 c.296G>T c.(295-297)TGC>TTC p.C99F NM_144663 NP_653264 Q8WZ69 CK040_HUMAN hypothetical protein LOC143501 99 p.C99*(1) ovary(2) 2 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192) TACCCTAAAGCAAGGTCTTTT 0.488 NA 22 60 5.35356e-11 8.48419e-11 0.00278 1 0 OR52A1 23538 broad.mit.edu 37 11 5173339 5173339 + Missense_Mutation SNP G G C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:5173339G>C uc010qyy.1 - 1 261 c.261C>G c.(259-261)TTC>TTG p.F87L NM_012375 NP_036507 Q9UKL2 O52A1_HUMAN olfactory receptor, family 52, subfamily A, 87 Extracellular (Potential). sensory perception of smell integral to plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CATTAAACCAGAATATTCCAA 0.453 NA 4 14 0 0 0.000248 0 0 FAM160A2 84067 broad.mit.edu 37 11 6238611 6238611 + Missense_Mutation SNP C C G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:6238611C>G uc001mcl.3 - 9 2564 c.2205G>C c.(2203-2205)CAG>CAC p.Q735H FAM160A2_uc001mck.3_Missense_Mutation_p.Q749H|FAM160A2_uc001mcm.2_Missense_Mutation_p.Q735H NM_001098794 NP_001092264 Q8N612 F16A2_HUMAN hypothetical protein LOC84067 isoform 2 735 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding skin(2) 2 CAGTGAAGGGCTGGCTTGGCA 0.567 NA 9 25 0 0 0.006214 0 0 TRIM3 10612 broad.mit.edu 37 11 6478952 6478952 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:6478952C>A uc001mdh.2 - 5 876 c.489G>T c.(487-489)CAG>CAT p.Q163H TRIM3_uc001mdi.2_Missense_Mutation_p.Q163H|TRIM3_uc010raj.1_Missense_Mutation_p.Q44H|TRIM3_uc009yfd.2_Missense_Mutation_p.Q163H|TRIM3_uc010rak.1_Missense_Mutation_p.Q163H|TRIM3_uc001mdj.2_Missense_Mutation_p.Q44H NM_006458 NP_006449 O75382 TRIM3_HUMAN tripartite motif-containing 3 163 Potential. nervous system development|protein transport early endosome protein C-terminus binding|zinc ion binding central_nervous_system(2)|large_intestine(1)|ovary(1)|skin(1) 5 all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135) CGAGCTGGCGCTGCAGGGCCG 0.677 Melanoma(6;5 510 1540 25169 29084) NA 15 41 3.27435e-08 4.88486e-08 0.00245 1 0 NLRP14 338323 broad.mit.edu 37 11 7065059 7065059 + Missense_Mutation SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:7065059G>A uc001mfb.1 + 4 2125 c.1802G>A c.(1801-1803)TGT>TAT p.C601Y NM_176822 NP_789792 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 601 cell differentiation|multicellular organismal development|spermatogenesis ATP binding ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1) 8 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) GCAATGAGATGTTTCCCAAAG 0.423 NA 20 64 0 0 0.002299 0 0 API5 8539 broad.mit.edu 37 11 43340233 43340233 + Missense_Mutation SNP G G A rs35999189 TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:43340233G>A uc010rfh.1 + 2 286 c.113G>A c.(112-114)GGT>GAT p.G38D API5_uc010rfg.1_Missense_Mutation_p.G27D|API5_uc001mxf.2_Missense_Mutation_p.G38D|API5_uc010rfi.1_Intron|API5_uc001mxg.2_5'UTR NM_001142930 NP_001136402 Q9BZZ5 API5_HUMAN apoptosis inhibitor 5 isoform a 38 anti-apoptosis|apoptosis cytoplasm|spliceosomal complex fibroblast growth factor binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 GTGAAAGGTGGTACTAAGGAA 0.368 Pancreas(1;98 122 5625 20895 49453) NA 16 43 0 0 0.004007 0 0 SYT13 57586 broad.mit.edu 37 11 45277237 45277237 + Missense_Mutation SNP A A T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:45277237A>T uc001myq.2 - 2 515 c.389T>A c.(388-390)CTG>CAG p.L130Q SYT13_uc009yku.1_5'UTR NM_020826 NP_065877 Q7L8C5 SYT13_HUMAN synaptotagmin XIII 130 Cytoplasmic (Potential). transport vesicle ovary(1) 1 GAGGATGAACAGCTCCTCTGT 0.582 NA 6 25 0 0 0.001984 0 0 OR4S1 256148 broad.mit.edu 37 11 48328158 48328158 + Silent SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:48328158G>T uc010rhu.1 + 1 384 c.384G>T c.(382-384)CTG>CTT p.L128L NM_001004725 NP_001004725 Q8NGB4 OR4S1_HUMAN olfactory receptor, family 4, subfamily S, 128 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GTAGGCCCCTGCACTACACAG 0.582 NA 25 66 9.80776e-20 1.86388e-19 0.00632 1 0 OR4C46 119749 broad.mit.edu 37 11 51515998 51515998 + Silent SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:51515998C>A uc010ric.1 + 1 717 c.717C>A c.(715-717)GTC>GTA p.V239V NM_001004703 NP_001004703 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, 239 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CCACCTGTGTCTCCCACATCA 0.463 NA 7 64 6.5536e-12 1.08359e-11 0.00308 1 0 OR4C16 219428 broad.mit.edu 37 11 55340262 55340262 + Missense_Mutation SNP T T G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:55340262T>G uc010rih.1 + 1 659 c.659T>G c.(658-660)TTG>TGG p.L220W NM_001004701 NP_001004701 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, 220 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_epithelial(135;0.0748) GTCATCTTCTTGCATTCTCTG 0.418 NA 10 31 0 0 0.008291 0 0 OR5D14 219436 broad.mit.edu 37 11 55563554 55563554 + Missense_Mutation SNP G G C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:55563554G>C uc010rim.1 + 1 523 c.523G>C c.(523-525)GTA>CTA p.V175L NM_001004735 NP_001004735 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, 175 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_epithelial(135;0.196) TGGACCTAATGTAATCAACCA 0.498 NA 28 134 0 0 0.002096 0 0 OR5M1 390168 broad.mit.edu 37 11 56380513 56380513 + Missense_Mutation SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:56380513C>T uc001nja.1 - 1 466 c.466G>A c.(466-468)GGG>AGG p.G156R NM_001004740 NP_001004740 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, 156 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 TGAGAGAACCCACTAAGAAAC 0.458 NA 12 41 0 0 0.000978 0 0 OR4D6 219983 broad.mit.edu 37 11 59224911 59224911 + Missense_Mutation SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:59224911G>A uc010rku.1 + 1 478 c.478G>A c.(478-480)GTA>ATA p.V160I NM_001004708 NP_001004708 Q8NGJ1 OR4D6_HUMAN olfactory receptor, family 4, subfamily D, 160 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 AATCATCCAGGTAATTCTGAT 0.527 NA 43 63 0 0 0.002222 0 0 CD5 921 broad.mit.edu 37 11 60889151 60889151 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:60889151C>A uc009ynk.2 + 6 977 c.874C>A c.(874-876)CGC>AGC p.R292S NM_014207 NP_055022 P06127 CD5_HUMAN CD5 molecule precursor 292 Extracellular (Potential).|SRCR 3. cell proliferation|cell recognition integral to plasma membrane scavenger receptor activity ovary(1) 1 all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05) BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528) CGTGGAGGTGCGCCAGGGGGC 0.657 NA 12 36 1.08611e-07 1.59948e-07 0.000978 1 0 SYT7 9066 broad.mit.edu 37 11 61291321 61291321 + Silent SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:61291321G>A uc001nrv.2 - 7 891 c.885C>T c.(883-885)GCC>GCT p.A295A SYT7_uc009ynr.2_Silent_p.A370A NM_004200 NP_004191 O43581 SYT7_HUMAN synaptotagmin VII 295 C2 2.|Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane transporter activity ovary(3)|pancreas(1) 4 CGATGTCCATGGCTTTGAGGT 0.607 NA 119 185 0 0 0.00361 0 0 SLC22A25 387601 broad.mit.edu 37 11 62997100 62997100 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:62997100G>T uc001nwr.1 - 1 25 c.25C>A c.(25-27)CAA>AAA p.Q9K SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_RNA|SLC22A25_uc001nws.1_RNA|SLC22A25_uc001nwt.1_Missense_Mutation_p.Q9K NM_199352 NP_955384 Q6T423 S22AP_HUMAN putative UST1-like organic anion transporter 9 Cytoplasmic (Potential). transmembrane transport integral to membrane ovary(3)|skin(1) 4 CCTCCAACTTGATCTAGGAGG 0.438 NA 19 25 5.03518e-11 8.00734e-11 0.007413 1 0 ANO1 55107 broad.mit.edu 37 11 70033898 70033898 + Missense_Mutation SNP A A G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:70033898A>G uc001opj.2 + 26 3054 c.2749A>G c.(2749-2751)AAG>GAG p.K917E ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.K626E|ANO1_uc010rql.1_Missense_Mutation_p.K91E NM_018043 NP_060513 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 917 Cytoplasmic (Potential). multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity ovary(1)|pancreas(1) 2 GGACATCCCCAAGGACATCAG 0.582 NA 4 12 0 0 0.000248 0 0 P2RY6 5031 broad.mit.edu 37 11 73008546 73008546 + Missense_Mutation SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:73008546G>A uc001otm.2 + 4 1388 c.983G>A c.(982-984)CGC>CAC p.R328H P2RY6_uc001otn.2_Missense_Mutation_p.R328H|P2RY6_uc001oto.2_Missense_Mutation_p.R328H|P2RY6_uc001otp.2_Missense_Mutation_p.R328H|P2RY6_uc001otq.2_Missense_Mutation_p.R328H|P2RY6_uc001otr.2_Missense_Mutation_p.R328H|P2RY6_uc001ots.2_Missense_Mutation_p.R328H NM_176796 NP_789766 Q15077 P2RY6_HUMAN pyrimidinergic receptor P2Y6 328 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(1) 1 AGGCAGGGTCGCTGAGTCCTC 0.577 NA 10 29 0 0 0.008291 0 0 MYO7A 4647 broad.mit.edu 37 11 76892594 76892595 + Missense_Mutation DNP GG GG TT TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:76892594_76892595GG>TT uc001oyb.2 + 23 3135_3136 c.2863_2864GG>TT c.(2863-2865)GGC>TTC p.G955F MYO7A_uc010rsl.1_Missense_Mutation_p.G955F|MYO7A_uc010rsm.1_Missense_Mutation_p.G944F|MYO7A_uc001oyc.2_Missense_Mutation_p.G955F|MYO7A_uc001oyd.2_Missense_Mutation_p.G295F|MYO7A_uc009yus.1_RNA|MYO7A_uc009yut.1_Missense_Mutation_p.G166F NM_000260 NP_000251 Q13402 MYO7A_HUMAN myosin VIIA isoform 1 955 G -> S (in USH1B). actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|breast(1) 4 GACTTCAGGTGGCCTGCCAGGC 0.604 NA 7 22 0 0 0.004672 0 0 MYO7A 4647 broad.mit.edu 37 11 76924959 76924959 + Missense_Mutation SNP A A G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:76924959A>G uc001oyb.2 + 48 6765 c.6493A>G c.(6493-6495)ACC>GCC p.T2165A MYO7A_uc001oyc.2_Missense_Mutation_p.T2125A|MYO7A_uc001oye.2_RNA NM_000260 NP_000251 Q13402 MYO7A_HUMAN myosin VIIA isoform 1 2165 FERM 2. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|breast(1) 4 CAGCGGCAACACCTACTTCCA 0.607 NA 25 100 0 0 0.007291 0 0 BTG4 54766 broad.mit.edu 37 11 111368781 111368781 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:111368781G>T uc001plj.2 - 3 438 c.253C>A c.(253-255)CAC>AAC p.H85N BTG4_uc001plk.2_Missense_Mutation_p.H85N NM_017589 NP_060059 Q9NY30 BTG4_HUMAN B-cell translocation gene 4 85 cell cycle arrest|negative regulation of cell proliferation|neuron differentiation 0 all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509) AGTCCCAGGTGAGAAAAATCT 0.403 NA 20 29 2.4624e-09 3.74677e-09 0.008871 1 0 KCNJ5 3762 broad.mit.edu 37 11 128781777 128781777 + Silent SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:128781777C>A uc001qet.2 + 2 923 c.609C>A c.(607-609)TCC>TCA p.S203S KCNJ5_uc009zck.2_Silent_p.S203S|KCNJ5_uc001qew.2_Silent_p.S203S NM_000890 NP_000881 P48544 IRK5_HUMAN potassium inwardly-rectifying channel J5 203 Cytoplasmic (By similarity). synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding skin(1) 1 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glibenclamide(DB01016) TCATGTTTTCCAACAACGCAG 0.592 Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231) NA 7 65 8.12818e-05 0.000106363 0.001984 1 0 NTM 50863 broad.mit.edu 37 11 132177606 132177606 + Nonsense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:132177606G>T uc001qgp.2 + 4 1214 c.550G>T c.(550-552)GAA>TAA p.E184* NTM_uc001qgm.2_Nonsense_Mutation_p.E184*|NTM_uc010sch.1_Nonsense_Mutation_p.E175*|NTM_uc010sci.1_Nonsense_Mutation_p.E184*|NTM_uc010scj.1_Nonsense_Mutation_p.E143*|NTM_uc001qgo.2_Nonsense_Mutation_p.E184*|NTM_uc001qgq.2_Nonsense_Mutation_p.E184*|NTM_uc001qgr.2_5'UTR NM_016522 NP_057606 Q9P121 NTRI_HUMAN neurotrimin isoform 1 184 Ig-like C2-type 2. cell adhesion|neuron recognition anchored to membrane|plasma membrane ovary(4)|central_nervous_system(1)|skin(1) 6 GAGTGAAGACGAATACTTGGA 0.493 NA 10 51 7.48243e-07 1.05445e-06 0.006214 1 0 CCND2 894 broad.mit.edu 37 12 4383338 4383338 + Silent SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr12:4383338C>T uc001qmo.2 + 1 437 c.132C>T c.(130-132)TTC>TTT p.F44F NM_001759 NP_001750 P30279 CCND2_HUMAN cyclin D2 44 Cyclin N-terminal. cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus protein kinase binding haematopoietic_and_lymphoid_tissue(1)|breast(1)|kidney(1) 3 all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206) GCTCCTACTTCAAGTGCGTGC 0.652 NA T IGL@ NHL,CLL 29 56 0 0 0.007291 0 0 TAS2R30 259293 broad.mit.edu 37 12 11286256 11286256 + Silent SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr12:11286256C>A uc009zhs.1 - 1 588 c.588G>T c.(586-588)CTG>CTT p.L196L PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron NM_001097643 NP_001091112 type 2 taste receptor member 30 0 AGATTAACAGCAGAAAAGATA 0.418 NA 57 179 2.30037e-20 4.38987e-20 0.00361 1 0 KIAA1467 57613 broad.mit.edu 37 12 13208723 13208723 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr12:13208723G>T uc001rbi.2 + 2 299 c.276G>T c.(274-276)CAG>CAT p.Q92H KIAA1467_uc009zhx.1_RNA NM_020853 NP_065904 A2RU67 K1467_HUMAN hypothetical protein LOC57613 92 integral to membrane central_nervous_system(2)|skin(1) 3 Prostate(47;0.184) BRCA - Breast invasive adenocarcinoma(232;0.157) GCCTGGAACAGAAGGCGGCCT 0.577 NA 28 66 1.75199e-13 3.01658e-13 0.007291 1 0 RASSF8 11228 broad.mit.edu 37 12 26218312 26218312 + Missense_Mutation SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr12:26218312C>T uc001rgx.2 + 3 1206 c.985C>T c.(985-987)CGC>TGC p.R329C RASSF8_uc001rgy.2_Missense_Mutation_p.R329C|RASSF8_uc001rgz.2_Missense_Mutation_p.R329C|RASSF8_uc009zjd.1_Missense_Mutation_p.R329C|RASSF8_uc009zje.1_Missense_Mutation_p.R329C NM_007211 NP_009142 Q8NHQ8 RASF8_HUMAN Ras association (RalGDS/AF-6) domain family 329 signal transduction 0 Colorectal(261;0.0847) AGCCACCAAACGCTTACAGGT 0.408 NA 21 54 0 0 0.002299 0 0 DDX11 1663 broad.mit.edu 37 12 31242051 31242051 + Missense_Mutation SNP A A T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr12:31242051A>T uc001rjt.1 + 7 1009 c.758A>T c.(757-759)AAG>ATG p.K253M DDX11_uc010sjw.1_Missense_Mutation_p.K253M|DDX11_uc010sjx.1_RNA|DDX11_uc001rjr.1_Missense_Mutation_p.K253M|DDX11_uc001rjs.1_Missense_Mutation_p.K253M|DDX11_uc001rju.1_Translation_Start_Site|DDX11_uc001rjv.1_Missense_Mutation_p.K253M|DDX11_uc001rjw.1_Missense_Mutation_p.K227M|DDX11_uc001rjx.1_Translation_Start_Site|DDX11_uc009zjn.1_RNA NM_152438 NP_689651 Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 253 Helicase ATP-binding. G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding breast(3) 3 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) CCCTTTGGCAAGGATGTTCGG 0.537 NA Multiple Myeloma(12;0.14) 20 43 0 0 0.002299 0 0 BICD1 636 broad.mit.edu 37 12 32480553 32480553 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr12:32480553G>T uc001rku.2 + 5 1245 c.1164G>T c.(1162-1164)AAG>AAT p.K388N BICD1_uc001rkv.2_Missense_Mutation_p.K388N|BICD1_uc010skd.1_RNA NM_001714 NP_001705 Q96G01 BICD1_HUMAN bicaudal D homolog 1 isoform 1 388 Potential. anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton large_intestine(1)|central_nervous_system(1) 2 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) AGGAGCTCAAGGCTGAGCTGG 0.587 NA 10 15 0.000442599 0.000561525 0.006214 1 0 SYT10 341359 broad.mit.edu 37 12 33579232 33579232 + Missense_Mutation SNP T T G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr12:33579232T>G uc001rll.1 - 2 647 c.350A>C c.(349-351)AAG>ACG p.K117T SYT10_uc009zju.1_5'UTR NM_198992 NP_945343 Q6XYQ8 SYT10_HUMAN synaptotagmin X 117 Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(1)|skin(1) 2 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) TTCATTTTCCTTAATTTCTTT 0.408 NA 13 87 0 0 0.001855 0 0 C12orf40 283461 broad.mit.edu 37 12 40115022 40115022 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr12:40115022C>A uc001rmc.2 + 13 2095 c.1928C>A c.(1927-1929)ACT>AAT p.T643N C12orf40_uc009zjv.1_Intron NM_001031748 NP_001026918 Q86WS4 CL040_HUMAN hypothetical protein LOC283461 643 ovary(6) 6 GCAGATACCACTGGAGGGCAG 0.358 NA 14 28 1.3612e-06 1.89493e-06 0.003163 1 0 ADAMTS20 80070 broad.mit.edu 37 12 43847712 43847712 + Silent SNP A A T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr12:43847712A>T uc010skx.1 - 12 1758 c.1758T>A c.(1756-1758)CCT>CCA p.P586P NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 586 TSP type-1 1. 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) AGACATACTCAGGACGATTAC 0.423 NA 3 10 0 0 0.004672 0 0 IRAK4 51135 broad.mit.edu 37 12 44161952 44161952 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr12:44161952G>T uc001rnu.3 + 3 168 c.38G>T c.(37-39)TGC>TTC p.C13F IRAK4_uc001rnt.3_Missense_Mutation_p.C13F|IRAK4_uc001rnx.3_5'UTR|IRAK4_uc001rny.3_5'UTR|IRAK4_uc010sky.1_Intron|IRAK4_uc001rnv.3_5'UTR|IRAK4_uc001rnw.3_5'UTR NM_001114182 NP_001107654 Q9NWZ3 IRAK4_HUMAN interleukin-1 receptor-associated kinase 4 13 innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity 0 all_cancers(12;0.00149) Lung NSC(34;0.0804)|all_lung(34;0.181) GBM - Glioblastoma multiforme(48;0.04) TATGTGCGCTGCCTCAATGTT 0.343 NA 4 16 0.00024832 0.000318573 0.000248 1 0 NELL2 4753 broad.mit.edu 37 12 44915854 44915854 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr12:44915854G>T uc001rog.2 - 18 2699 c.2104C>A c.(2104-2106)CAT>AAT p.H702N NELL2_uc001rof.3_Missense_Mutation_p.H701N|NELL2_uc001roh.2_Missense_Mutation_p.H702N|NELL2_uc009zkd.2_Missense_Mutation_p.H654N|NELL2_uc010skz.1_Missense_Mutation_p.H752N|NELL2_uc010sla.1_Missense_Mutation_p.H725N NM_001145108 NP_001138580 Q99435 NELL2_HUMAN NEL-like protein 2 isoform b precursor 702 VWFC 4. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) CCATTTTGATGGAGGCACTGA 0.453 NA 7 28 1.26484e-09 1.96373e-09 0.00308 1 0 KRT6B 3854 broad.mit.edu 37 12 52845777 52845777 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr12:52845777C>A uc001sak.2 - 1 134 c.86G>T c.(85-87)AGC>ATC p.S29I NM_005555 NP_005546 P04259 K2C6B_HUMAN keratin 6B 29 Head. ectoderm development keratin filament structural constituent of cytoskeleton ovary(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.083) GCCAGAGCGGCTGACCCCAGG 0.647 NA 22 32 4.22769e-11 6.79398e-11 0.00632 1 0 PCBP2 5094 broad.mit.edu 37 12 53853102 53853102 + Missense_Mutation SNP C C T rs111807426 TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr12:53853102C>T uc001sdl.3 + 6 640 c.290C>T c.(289-291)CCG>CTG p.P97L PCBP2_uc001sdc.3_Missense_Mutation_p.P97L|PCBP2_uc001sdb.3_Missense_Mutation_p.P97L|PCBP2_uc001sde.3_Missense_Mutation_p.P97L|PCBP2_uc001sdi.3_Missense_Mutation_p.P97L|PCBP2_uc001sdd.3_Missense_Mutation_p.P97L|PCBP2_uc001sdf.3_Missense_Mutation_p.P97L|PCBP2_uc009zna.2_Missense_Mutation_p.P58L|PCBP2_uc010soh.1_Missense_Mutation_p.P97L|PCBP2_uc009zmz.1_Missense_Mutation_p.P39L|PCBP2_uc001sdg.1_RNA NM_001128911 NP_001122383 Q15366 PCBP2_HUMAN poly(rC) binding protein 2 isoform d 97 KH 2. innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus cytosol|nucleoplasm|ribonucleoprotein complex DNA binding|RNA binding|ubiquitin protein ligase binding 0 AGTAGACCCCCGGTCACCCTG 0.488 NA 23 63 0 0 0.00333 0 0 INHBC 3626 broad.mit.edu 37 12 57843451 57843451 + Silent SNP A A T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr12:57843451A>T uc001snv.1 + 2 832 c.705A>T c.(703-705)CGA>CGT p.R235R NM_005538 NP_005529 P55103 INHBC_HUMAN inhibin beta C chain preproprotein 235 growth extracellular region growth factor activity|hormone activity|transforming growth factor beta receptor binding 0 AGATTCACCGACGAGGCATCG 0.582 NA 11 24 0 0 0.000978 0 0 BEST3 144453 broad.mit.edu 37 12 70049315 70049315 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr12:70049315G>T uc001svg.2 - 10 1606 c.1379C>A c.(1378-1380)CCC>CAC p.P460H BEST3_uc001svd.1_Intron|BEST3_uc001sve.1_Intron|BEST3_uc001svf.2_Missense_Mutation_p.P247H|BEST3_uc010stm.1_Missense_Mutation_p.P354H NM_032735 NP_116124 Q8N1M1 BEST3_HUMAN vitelliform macular dystrophy 2-like 3 isoform 460 Cytoplasmic (Potential). chloride channel complex|plasma membrane chloride channel activity 0 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) GTGCAGCGTGGGGCTTCCTTC 0.592 NA 18 44 5.03518e-11 8.00734e-11 0.007413 1 0 SPATA13 221178 broad.mit.edu 37 13 24876744 24876744 + Missense_Mutation SNP A A T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr13:24876744A>T uc001upg.1 + 12 2199 c.1792A>T c.(1792-1794)AGG>TGG p.R598W SPATA13_uc001upd.1_Missense_Mutation_p.R1223W|C1QTNF9_uc001upe.2_Intron|SPATA13_uc010tcy.1_Missense_Mutation_p.Q545L|SPATA13_uc010tcz.1_Missense_Mutation_p.R482W|SPATA13_uc010tda.1_Missense_Mutation_p.R542W|SPATA13_uc001uph.2_Missense_Mutation_p.R520W|SPATA13_uc010tdb.1_Missense_Mutation_p.R458W|SPATA13_uc009zzz.1_Missense_Mutation_p.Q155L NM_153023 NP_694568 Q96N96 SPT13_HUMAN spermatogenesis associated 13 598 C-terminal tail. cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction cytoplasm|filopodium|lamellipodium|ruffle membrane protein binding|Rac guanyl-nucleotide exchange factor activity skin(2)|ovary(1) 3 all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279) all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231) AGGCTACAACAGGTGCCCTGT 0.582 NA 20 85 0 0 0.00278 0 0 HTR2A 3356 broad.mit.edu 37 13 47409077 47409077 + Silent SNP C C T rs143205112 TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr13:47409077C>T uc001vbq.2 - 3 1445 c.1311G>A c.(1309-1311)AAG>AAA p.K437K HTR2A_uc001vbr.2_Silent_p.K337K|HTR2A_uc010acr.2_Silent_p.K437K NM_000621 NP_000612 P28223 5HT2A_HUMAN 5-hydroxytryptamine receptor 2A isoform 1 437 Cytoplasmic (By similarity). ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission integral to plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333) GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224) Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) TATCTGTTGTCTTGGCATCTT 0.413 NA 14 84 0 0 0.00245 0 0 ATP7B 540 broad.mit.edu 37 13 52513211 52513211 + Silent SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr13:52513211C>T uc001vfw.2 - 17 3832 c.3675G>A c.(3673-3675)AAG>AAA p.K1225K ATP7B_uc010adv.2_Silent_p.K795K|ATP7B_uc001vfx.2_Silent_p.K1018K|ATP7B_uc001vfy.2_Silent_p.K1114K|ATP7B_uc010tgt.1_Silent_p.K1160K|ATP7B_uc010tgu.1_Silent_p.K1177K|ATP7B_uc010tgv.1_Silent_p.K1147K|ATP7B_uc001vfv.2_Silent_p.K497K|ATP7B_uc010tgs.1_Silent_p.K436K NM_000053 NP_000044 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 1225 Cytoplasmic (Potential). ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) CTCTGGCTGTCTTCCGGTTGT 0.542 NA Wilson_disease 48 67 0 0 0.00361 0 0 KLHL1 57626 broad.mit.edu 37 13 70681438 70681438 + Missense_Mutation SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr13:70681438C>T uc001vip.2 - 1 1188 c.394G>A c.(394-396)GGC>AGC p.G132S KLHL1_uc010thm.1_Missense_Mutation_p.G132S|ATXN8OS_uc010aej.1_RNA NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 132 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) AAGTCCATGCCTGGCACCACC 0.582 NA 45 59 0 0 0.003214 0 0 MYCBP2 23077 broad.mit.edu 37 13 77900726 77900726 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr13:77900726C>A uc001vkf.2 - 2 162 c.71G>T c.(70-72)GGT>GTT p.G24V MYCBP2_uc010aev.2_5'UTR NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 24 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) CTGGTAGTGACCCCGGGAGTC 0.726 NA 4 13 2.56e-06 3.47917e-06 0.000248 1 0 SLITRK1 114798 broad.mit.edu 37 13 84454234 84454234 + Missense_Mutation SNP A A T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr13:84454234A>T uc001vlk.2 - 1 2295 c.1409T>A c.(1408-1410)ATG>AAG p.M470K NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 470 Extracellular (Potential). integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) CAGTTTGGGCATGGCATTGAA 0.557 NA 5 44 0 0 0.000602 0 0 GPC6 10082 broad.mit.edu 37 13 94679996 94679996 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr13:94679996C>A uc001vlt.2 + 4 1357 c.725C>A c.(724-726)CCA>CAA p.P242Q GPC6_uc010tig.1_Missense_Mutation_p.P242Q NM_005708 NP_005699 Q9Y625 GPC6_HUMAN glypican 6 precursor 242 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding 0 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) AGCCCAACCCCAGGGTGTATC 0.453 NA 15 108 1.35283e-19 2.56031e-19 0.004007 1 0 NALCN 259232 broad.mit.edu 37 13 101728231 101728232 + Missense_Mutation DNP CC CC GA TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr13:101728231_101728232CC>GA uc001vox.1 - 35 4135_4136 c.3946_3947GG>TC c.(3946-3948)GGA>TCA p.G1316S NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 1316 Helical; Voltage-sensor; Name=S4 of repeat IV; (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TACATGTTTTCCACAGATGGAG 0.322 NA 25 36 0 0 0.004672 0 0 POTEG 404785 broad.mit.edu 37 14 19553735 19553735 + Missense_Mutation SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr14:19553735C>T uc001vuz.1 + 1 371 c.319C>T c.(319-321)CCC>TCC p.P107S POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 107 ovary(1) 1 CCACTGCTTCCCCTGCTGCAG 0.602 NA 58 718 0 0 0.00361 0 0 TEP1 7011 broad.mit.edu 37 14 20859156 20859156 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr14:20859156C>A uc001vxe.2 - 14 2237 c.2197G>T c.(2197-2199)GTG>TTG p.V733L TEP1_uc010ahk.2_Missense_Mutation_p.V83L|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.V625L NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 733 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) GCCTTAAGCACTGCAGTCTTC 0.537 NA 14 74 4.14922e-12 6.8853e-12 0.004007 1 0 MYH7 4625 broad.mit.edu 37 14 23887558 23887558 + Silent SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr14:23887558G>T uc001wjx.2 - 30 4136 c.4030C>A c.(4030-4032)CGG>AGG p.R1344R MIR208B_hsa-mir-208b|MI0005570_5'Flank NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1344 Potential. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TACTGCTCCCGCAGCAGGTCG 0.662 NA 8 56 5.18039e-06 6.91726e-06 0.00308 1 0 PYGL 5836 broad.mit.edu 37 14 51401905 51401905 + Splice_Site SNP T T A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr14:51401905T>A uc001wyu.2 - 3 473 c.346_splice c.e3-1 p.L116_splice PYGL_uc010tqq.1_Splice_Site_p.L82_splice|PYGL_uc001wyv.2_Splice_Site|PYGL_uc001wyw.3_Splice_Site_p.L116_splice NM_002863 NP_002854 P06737 PYGL_HUMAN liver glycogen phosphorylase isoform 1 glucose homeostasis|glucose metabolic process|glycogen catabolic process cytosol|soluble fraction AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding skin(1) 1 all_epithelial(31;0.00825)|Breast(41;0.148) Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140) CAATCCAAGCTGGTAATGAAA 0.418 NA 14 17 0 0 0.001855 0 0 ZFP36L1 677 broad.mit.edu 37 14 69256753 69256753 + Missense_Mutation SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr14:69256753G>A uc001xkh.1 - 2 644 c.514C>T c.(514-516)CGC>TGC p.R172C ZFP36L1_uc001xki.1_Missense_Mutation_p.R172C NM_004926 NP_004917 Q07352 TISB_HUMAN butyrate response factor 1 172 C3H1-type 2. regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) AAGTGGCAGCGGGGCCCGTAG 0.667 NA OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 74 0 0 0.003163 0 0 PCNX 22990 broad.mit.edu 37 14 71555084 71555084 + Missense_Mutation SNP T T G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr14:71555084T>G uc001xmo.2 + 29 5821 c.5375T>G c.(5374-5376)CTC>CGC p.L1792R PCNX_uc010are.1_Missense_Mutation_p.L1681R|PCNX_uc010arf.1_Missense_Mutation_p.L580R NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 1792 integral to membrane ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) CTAGTGACTCTCTGTTATGGA 0.393 NA 45 29 0 0 0.00361 0 0 YLPM1 56252 broad.mit.edu 37 14 75279466 75279466 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr14:75279466G>T uc001xqj.3 + 11 5607 c.5483G>T c.(5482-5484)CGG>CTG p.R1828L YLPM1_uc001xql.3_RNA|YLPM1_uc001xqm.1_Missense_Mutation_p.R311L NM_019589 NP_062535 P49750 YLPM1_HUMAN YLP motif containing 1 1633 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) CCACCGGGCCGGGAGAGCAGA 0.473 NA 8 8 0.000157383 0.000203047 0.00308 1 0 C14orf145 145508 broad.mit.edu 37 14 81371171 81371171 + Missense_Mutation SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr14:81371171C>T uc001xux.2 - 5 637 c.466G>A c.(466-468)GAT>AAT p.D156N C14orf145_uc001xuz.2_Missense_Mutation_p.D156N|C14orf145_uc001xva.1_Missense_Mutation_p.D156N|C14orf145_uc001xuy.1_Missense_Mutation_p.D14N NM_152446 NP_689659 Q6ZU80 CE128_HUMAN hypothetical protein LOC145508 156 centriole|spindle pole 0 BRCA - Breast invasive adenocarcinoma(234;0.0586) GTCATATCATCAGTCTCTTGA 0.393 NA 36 41 0 0 0.004878 0 0 EML5 161436 broad.mit.edu 37 14 89205241 89205241 + Missense_Mutation SNP T T C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr14:89205241T>C uc001xxg.2 - 7 1015 c.829A>G c.(829-831)ACA>GCA p.T277A NM_183387 NP_899243 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 277 cytoplasm|microtubule ovary(3) 3 CCCTGGTCTGTTTCCCTGAGA 0.363 NA 5 11 0 0 0.000602 0 0 VRK1 7443 broad.mit.edu 37 14 97321607 97321607 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr14:97321607G>T uc001yft.2 + 8 729 c.623G>T c.(622-624)GGA>GTA p.G208V NM_003384 NP_003375 Q99986 VRK1_HUMAN vaccinia related kinase 1 208 Protein kinase. cytoplasm|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity large_intestine(1)|stomach(1) 2 Melanoma(154;0.155) COAD - Colon adenocarcinoma(157;0.234) TGCCCAGAAGGAGTTCATAAA 0.408 NA 10 86 1.33987e-11 2.19165e-11 0.008291 1 0 HHIPL1 84439 broad.mit.edu 37 14 100129283 100129283 + Missense_Mutation SNP G G T rs142621182 TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr14:100129283G>T uc010avs.2 + 6 1638 c.1573G>T c.(1573-1575)GGC>TGC p.G525C HHIPL1_uc001ygl.1_Missense_Mutation_p.G525C NM_001127258 NP_001120730 Q96JK4 HIPL1_HUMAN HHIP-like protein 1 isoform a 525 carbohydrate metabolic process extracellular region|membrane oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity skin(2) 2 Melanoma(154;0.128) CATGGGCCACGGCCAGACCTG 0.582 NA 17 60 3.52763e-06 4.76594e-06 0.00499 1 0 SNRPN 6638 broad.mit.edu 37 15 25221464 25221464 + Silent SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr15:25221464G>T uc001ywp.1 + 9 1058 c.168G>T c.(166-168)GCG>GCT p.A56A SNRPN_uc001ywq.1_Silent_p.A56A|SNRPN_uc001ywr.1_Silent_p.A56A|SNRPN_uc001yws.1_Silent_p.A56A|SNRPN_uc001ywt.1_Silent_p.A56A|SNRPN_uc001ywv.1_Silent_p.A59A|SNRPN_uc001yww.1_Silent_p.A56A|SNRPN_uc001ywx.1_Silent_p.A56A|SNRPN_uc001ywz.1_Intron|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_3'UTR NM_022807 NP_073718 P63162 RSMN_HUMAN small nuclear ribonucleoprotein polypeptide N 56 RNA splicing small nuclear ribonucleoprotein complex|spliceosomal complex identical protein binding|RNA binding ovary(1) 1 all_cancers(20;9.33e-22)|Breast(32;0.000625) all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125) CAAAGAATGCGAAGCAACCAG 0.423 NA Prader-Willsyndrome 11 35 3.07112e-06 4.16145e-06 0.000978 1 0 HERC2 8924 broad.mit.edu 37 15 28465650 28465650 + Silent SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr15:28465650C>T uc001zbj.2 - 37 5899 c.5793G>A c.(5791-5793)CTG>CTA p.L1931L NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 1931 MIB/HERC2. DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CAGCAGCCGGCAGCTCTGCCA 0.562 NA 40 122 0 0 0.00874 0 0 TRPM1 4308 broad.mit.edu 37 15 31324973 31324973 + Silent SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr15:31324973G>T uc001zfm.2 - 21 2933 c.2805C>A c.(2803-2805)ATC>ATA p.I935I TRPM1_uc010azy.2_Silent_p.I842I|TRPM1_uc001zfl.2_RNA NM_002420 NP_002411 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, 935 Helical; (Potential). cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) ACCAGAAGATGATATCCACAC 0.483 NA 26 53 4.43304e-23 8.6397e-23 0.00632 1 0 TRPM1 4308 broad.mit.edu 37 15 31339443 31339443 + Silent SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr15:31339443C>A uc001zfm.2 - 14 1697 c.1569G>T c.(1567-1569)CCG>CCT p.P523P TRPM1_uc010azy.2_Silent_p.P430P|TRPM1_uc001zfl.2_RNA NM_002420 NP_002411 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, 523 Extracellular (Potential). cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) GGTAATCAGGCGGAAGGTTGC 0.547 NA 8 39 5.18039e-06 6.91726e-06 0.00308 1 0 AVEN 57099 broad.mit.edu 37 15 34295248 34295248 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr15:34295248G>T uc001zhj.2 - 2 486 c.430C>A c.(430-432)CTC>ATC p.L144I CHRM5_uc001zhk.1_Intron NM_020371 NP_065104 Q9NQS1 AVEN_HUMAN cell death regulator aven 144 anti-apoptosis|apoptosis endomembrane system|intracellular|membrane|membrane fraction protein binding kidney(1) 1 all_lung(180;1.78e-08) all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359) GAGCTAAGGAGGACACTGAAA 0.353 NA 10 33 2.61681e-11 4.25e-11 0.00245 1 0 DISP2 85455 broad.mit.edu 37 15 40657403 40657403 + Missense_Mutation SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr15:40657403G>A uc001zlk.1 + 6 864 c.775G>A c.(775-777)GCT>ACT p.A259T NM_033510 NP_277045 A7MBM2 DISP2_HUMAN dispatched B 259 smoothened signaling pathway integral to membrane ovary(2) 2 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) CCAGGAGAGCGCTGTCCGGCC 0.597 NA 13 68 0 0 0.001368 0 0 RPAP1 26015 broad.mit.edu 37 15 41828728 41828728 + Missense_Mutation SNP G G C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr15:41828728G>C uc001zod.2 - 3 425 c.301C>G c.(301-303)CAC>GAC p.H101D NM_015540 NP_056355 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 101 nucleus DNA binding|DNA-directed RNA polymerase activity large_intestine(1) 1 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) GCAGTGATGTGCTGATCATGC 0.547 NA 11 60 0 0 0.001368 0 0 GOLGA6B 55889 broad.mit.edu 37 15 72954779 72954779 + Missense_Mutation SNP T T A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr15:72954779T>A uc010uks.1 + 11 1075 c.1034T>A c.(1033-1035)ATG>AAG p.M345K NM_018652 NP_061122 A6NDN3 GOG6B_HUMAN golgi autoantigen, golgin subfamily a, 6B 345 Potential. 0 CAGGAGGAGATGCTCCGAGAG 0.557 NA 95 145 0 0 0.00361 0 0 Unknown 0 broad.mit.edu 37 15 76074470 76074470 + Missense_Mutation SNP A A G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr15:76074470A>G uc010umm.1 + 8 649 c.572A>G c.(571-573)CAG>CGG p.Q191R uc002bba.1_5'Flank SubName: Full=cDNA FLJ59077, highly similar to Golgin subfamily A member 6; NA CGGTTACAGCAGACCATAAAG 0.577 NA 5 35 0 0 0.008291 0 0 BNC1 646 broad.mit.edu 37 15 83932483 83932483 + Missense_Mutation SNP A A T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr15:83932483A>T uc002bjt.1 - 4 1608 c.1520T>A c.(1519-1521)ATA>AAA p.I507K BNC1_uc010uos.1_Missense_Mutation_p.I495K NM_001717 NP_001708 Q01954 BNC1_HUMAN basonuclin 1 507 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 GGAAGGGAGTATCCCAGGCGT 0.517 NA 18 44 0 0 0.007413 0 0 ACAN 176 broad.mit.edu 37 15 89400503 89400503 + Missense_Mutation SNP G G C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr15:89400503G>C uc010upo.1 + 12 5061 c.4687G>C c.(4687-4689)GGG>CGG p.G1563R ACAN_uc010upp.1_Missense_Mutation_p.G1563R|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 1563 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) TTCTGAAGTAGGGACTGACCT 0.512 NA 41 43 0 0 0.005524 0 0 ABCC6P1 653190 broad.mit.edu 37 16 18603969 18603969 + Silent SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr16:18603969G>A uc002dfg.2 + 9 1136 c.936G>A c.(934-936)CAG>CAA p.Q312Q ABCC6P1_uc010vam.1_Silent_p.Q255Q NR_003569 SubName: Full=cDNA FLJ51267, highly similar to Multidrug resistance-associated protein 6; 0 TTGAGCAGCAGAACATGTACA 0.587 NA 9 28 0 0 0.006214 0 0 ACSM3 6296 broad.mit.edu 37 16 20781403 20781403 + Missense_Mutation SNP T T C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr16:20781403T>C uc002dhr.2 + 2 234 c.47T>C c.(46-48)TTT>TCT p.F16S ACSM3_uc002dhq.2_Missense_Mutation_p.F16S|ACSM3_uc010vba.1_Missense_Mutation_p.F8S NM_005622 NP_005613 Q53FZ2 ACSM3_HUMAN SA hypertension-associated homolog isoform 1 16 regulation of blood pressure mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding ovary(1) 1 GCCAAGTGTTTTCAGCGCCTA 0.448 NA 80 47 0 0 0.00361 0 0 DNAH3 55567 broad.mit.edu 37 16 20990777 20990777 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr16:20990777G>T uc010vbe.1 - 50 7951 c.7951C>A c.(7951-7953)CCC>ACC p.P2651T DNAH3_uc010vbd.1_Missense_Mutation_p.P86T NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2651 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) TAGGAGGTGGGGGTAACATAG 0.478 NA 21 78 1.87028e-06 2.57234e-06 0.001882 1 0 ASPHD1 253982 broad.mit.edu 37 16 29912884 29912884 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr16:29912884G>T uc002dut.2 + 1 738 c.592G>T c.(592-594)GCC>TCC p.A198S uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_5'Flank|SEZ6L2_uc002dur.3_5'Flank|SEZ6L2_uc002duq.3_5'Flank|SEZ6L2_uc002dus.3_5'Flank|SEZ6L2_uc010vec.1_5'Flank|SEZ6L2_uc010ved.1_5'Flank|ASPHD1_uc002duu.3_RNA|ASPHD1_uc010bzi.2_RNA NM_181718 NP_859069 Q5U4P2 ASPH1_HUMAN aspartate beta-hydroxylase domain containing 1 198 Lumenal (Potential). peptidyl-amino acid modification integral to endoplasmic reticulum membrane oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity 0 CCTGCCTTCAGCCCCCTTTGT 0.667 NA 62 66 7.73544e-29 1.53369e-28 0.00361 1 0 ABCC11 85320 broad.mit.edu 37 16 48249175 48249175 + Missense_Mutation SNP T T A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr16:48249175T>A uc002eff.1 - 7 1382 c.1032A>T c.(1030-1032)GAA>GAT p.E344D ABCC11_uc002efg.1_Missense_Mutation_p.E344D|ABCC11_uc002efh.1_Missense_Mutation_p.E344D|ABCC11_uc010vgk.1_RNA NM_033151 NP_149163 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C, member 11 344 ABC transmembrane type-1 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(3)|skin(2)|central_nervous_system(1) 6 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) AAGTGAGAACTTCACTGGTCA 0.448 NA Cerumen_Type 6 64 0 0 0.001168 0 0 ABCC11 85320 broad.mit.edu 37 16 48249177 48249177 + Nonsense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr16:48249177C>A uc002eff.1 - 7 1380 c.1030G>T c.(1030-1032)GAA>TAA p.E344* ABCC11_uc002efg.1_Nonsense_Mutation_p.E344*|ABCC11_uc002efh.1_Nonsense_Mutation_p.E344*|ABCC11_uc010vgk.1_RNA NM_033151 NP_149163 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C, member 11 344 ABC transmembrane type-1 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(3)|skin(2)|central_nervous_system(1) 6 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) GTGAGAACTTCACTGGTCACA 0.448 NA Cerumen_Type 6 62 0.00116845 0.00144635 0.001168 1 0 NDRG4 65009 broad.mit.edu 37 16 58537747 58537747 + Silent SNP C C A rs145564006 byFrequency TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr16:58537747C>A uc002eno.2 + 2 173 c.67C>A c.(67-69)CGG>AGG p.R23R NDRG4_uc002enk.2_Silent_p.R55R|NDRG4_uc002enm.2_Silent_p.R75R|NDRG4_uc010vif.1_Silent_p.R55R|NDRG4_uc010cdk.2_Silent_p.R23R|NDRG4_uc010vig.1_Silent_p.R53R|NDRG4_uc010vih.1_5'UTR|NDRG4_uc010vii.1_Silent_p.R41R|NDRG4_uc002enp.2_Silent_p.R23R|NDRG4_uc002enq.1_5'Flank NM_022910 NP_075061 Q9ULP0 NDRG4_HUMAN NDRG family member 4 isoform 1 23 cell differentiation|cell growth|multicellular organismal development|response to stress cytoplasm skin(1) 1 TGTAGTGATCCGGGGCTCCCC 0.627 NA 22 20 1.85244e-09 2.85663e-09 0.00333 1 0 CALB2 794 broad.mit.edu 37 16 71423651 71423652 + Splice_Site DNP GG GG TT TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr16:71423651_71423652GG>TT uc002faa.3 + 11 770 c.700_splice c.e11-1 p.E234_splice CALB2_uc010vme.1_Splice_Site|CALB2_uc002fac.3_Splice_Site NM_001740 NP_001731 P22676 CALB2_HUMAN calbindin 2 isoform 1 calcium ion binding 0 Ovarian(137;0.125) GTATTTCCTAGGAAATGAATAT 0.52 NA 78 163 0 0 0.004672 0 0 PKD1L2 114780 broad.mit.edu 37 16 81145941 81145941 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr16:81145941C>A uc002fgh.1 - 42 6811 c.6811G>T c.(6811-6813)GCC>TCC p.A2271S PKD1L2_uc002fgf.1_Missense_Mutation_p.A71S|PKD1L2_uc002fgg.1_RNA NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN polycystin 1-like 2 isoform a 2271 Helical; (Potential). neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 TAGCCAAGGGCGGCATCGGCT 0.532 NA 23 33 1.55795e-14 2.72343e-14 0.001882 1 0 CPNE7 27132 broad.mit.edu 37 16 89645307 89645307 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr16:89645307G>T uc002fnp.2 + 3 530 c.400G>T c.(400-402)GTT>TTT p.V134F CPNE7_uc002fnq.2_Intron NM_014427 NP_055242 Q9UBL6 CPNE7_HUMAN copine 7 isoform b 134 lipid metabolic process transporter activity 0 all_hematologic(23;0.0748) all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147) GAGAGTGTCTGTTGATGTGCT 0.542 NA 12 19 6.40141e-05 8.40071e-05 0.000978 1 0 ZNF594 84622 broad.mit.edu 37 17 5085550 5085550 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:5085550C>A uc010cla.1 - 2 2158 c.2002G>T c.(2002-2004)GCT>TCT p.A668S NM_032530 NP_115919 Q96JF6 ZN594_HUMAN zinc finger protein 594 668 C2H2-type 20. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|skin(1) 3 TGGTGTGTAGCAAGGTGTGAC 0.468 NA 24 44 1.10513e-12 1.86085e-12 0.002299 1 0 TEKT1 83659 broad.mit.edu 37 17 6718555 6718555 + Missense_Mutation SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:6718555C>T uc002gdt.2 - 5 666 c.556G>A c.(556-558)GAT>AAT p.D186N TEKT1_uc010vth.1_Missense_Mutation_p.D40N NM_053285 NP_444515 Q969V4 TEKT1_HUMAN tektin 1 186 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(1)|skin(1) 2 Myeloproliferative disorder(207;0.0255) AAGCAGATATCATCTATGGTC 0.478 NA 20 71 0 0 0.002299 0 0 NEURL4 84461 broad.mit.edu 37 17 7221650 7221650 + Missense_Mutation SNP C C G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:7221650C>G uc002gga.1 - 24 3897 c.3890G>C c.(3889-3891)GGG>GCG p.G1297A GPS2_uc002gfx.1_5'Flank|NEURL4_uc002gfy.1_RNA|GPS2_uc002gfz.1_5'UTR|NEURL4_uc002ggb.1_Missense_Mutation_p.G1295A NM_032442 NP_115818 Q96JN8 NEUL4_HUMAN neuralized homolog 4 isoform 1 1297 protein binding upper_aerodigestive_tract(1)|ovary(1) 2 ACTGGCAGCCCCTGGCTCAGG 0.602 NA 49 73 0 0 0.00361 0 0 ALOXE3 59344 broad.mit.edu 37 17 8018264 8018264 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:8018264C>A uc010cnr.2 - 5 916 c.546G>T c.(544-546)CAG>CAT p.Q182H ALOXE3_uc002gka.2_Missense_Mutation_p.Q338H|ALOXE3_uc010vuo.1_Missense_Mutation_p.Q314H|ALOXE3_uc010vup.1_RNA NM_021628 NP_067641 Q9BYJ1 LOXE3_HUMAN arachidonate lipoxygenase 3 isoform 2 182 Lipoxygenase. leukotriene biosynthetic process iron ion binding|lipoxygenase activity skin(3)|lung(1)|central_nervous_system(1) 5 ACCTGTCACCCTGGTCTACAC 0.522 NA 65 141 3.83939e-23 7.54695e-23 0.00361 1 0 PFAS 5198 broad.mit.edu 37 17 8172508 8172508 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:8172508G>T uc002gkr.2 + 28 4084 c.3943G>T c.(3943-3945)GAT>TAT p.D1315Y PFAS_uc010vuv.1_Missense_Mutation_p.D891Y|PFAS_uc002gks.2_3'UTR NM_012393 NP_036525 O15067 PUR4_HUMAN phosphoribosylformylglycinamidine synthase 1315 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding ovary(2)|central_nervous_system(2)|pancreas(1) 5 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CCCTCCATTTGATACTCTGAC 0.642 NA 13 31 0.000151284 0.000197403 0.001855 1 0 MYH10 4628 broad.mit.edu 37 17 8455408 8455408 + Missense_Mutation SNP T T C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:8455408T>C uc002gll.2 - 8 941 c.845A>G c.(844-846)CAT>CGT p.H282R MYH10_uc002glm.2_Missense_Mutation_p.H292R|MYH10_uc010cnx.2_Missense_Mutation_p.H291R|MYH10_uc010cny.1_RNA NM_005964 NP_005955 P35580 MYH10_HUMAN myosin, heavy polypeptide 10, non-muscle 282 Myosin head-like. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity ovary(2) 2 GTAAAAGATATGAAAAGTACG 0.299 NA 5 17 0 0 0.001984 0 0 MYH1 4619 broad.mit.edu 37 17 10401191 10401191 + Nonsense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:10401191C>A uc002gmo.2 - 31 4319 c.4225G>T c.(4225-4227)GAA>TAA p.E1409* uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1409 Potential. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 TTCACAGCTTCTACATGTTCC 0.458 NA 8 37 0.000157383 0.000203047 0.00308 1 0 DNAH9 1770 broad.mit.edu 37 17 11666872 11666872 + Missense_Mutation SNP G G C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:11666872G>C uc002gne.2 + 36 7179 c.7111G>C c.(7111-7113)GAG>CAG p.E2371Q DNAH9_uc010coo.2_Missense_Mutation_p.E1665Q NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 2371 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GGAAATTTATGAGCATTATTT 0.498 NA 21 38 0 0 0.001523 0 0 UBB 7314 broad.mit.edu 37 17 16285497 16285497 + Silent SNP A A G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:16285497A>G uc002gpx.2 + 2 414 c.276A>G c.(274-276)GAA>GAG p.E92E UBB_uc010vwe.1_Intron NM_018955 NP_061828 P0CG47 UBB_HUMAN ubiquitin B precursor 92 Ubiquitin-like 2. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding skin(3) 3 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) TCACCCTGGAAGTGGAGCCCA 0.557 Melanoma(163;1126 3406 34901) NA 5 97 0 0 0.000602 0 0 PIGS 94005 broad.mit.edu 37 17 26881313 26881313 + Silent SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:26881313C>T uc002hbo.2 - 12 1966 c.1593G>A c.(1591-1593)GTG>GTA p.V531V UNC119_uc002hbk.2_5'Flank|UNC119_uc002hbm.2_5'Flank|PIGS_uc002hbn.2_Silent_p.V523V|PIGS_uc010wap.1_Silent_p.V470V NM_033198 NP_149975 Q96S52 PIGS_HUMAN phosphatidylinositol glycan anchor biosynthesis, 531 Helical; (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding breast(2)|urinary_tract(1)|kidney(1) 4 Lung NSC(42;0.00431) GGAGGATGGGCACAGCCATAG 0.547 NA 24 39 0 0 0.005443 0 0 PIGS 94005 broad.mit.edu 37 17 26898184 26898184 + Silent SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:26898184G>A uc002hbo.2 - 2 430 c.57C>T c.(55-57)GCC>GCT p.A19A PIGS_uc002hbn.2_Silent_p.A11A|PIGS_uc010wap.1_Intron NM_033198 NP_149975 Q96S52 PIGS_HUMAN phosphatidylinositol glycan anchor biosynthesis, 19 Helical; (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding breast(2)|urinary_tract(1)|kidney(1) 4 Lung NSC(42;0.00431) AGAAGAGGGCGGCGCGCTTGC 0.682 NA 11 25 0 0 0.001855 0 0 SEZ6 124925 broad.mit.edu 37 17 27285150 27285150 + Missense_Mutation SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:27285150C>T uc002hdp.2 - 11 2311 c.2117G>A c.(2116-2118)CGC>CAC p.R706H SEZ6_uc010crx.1_5'Flank|SEZ6_uc002hdm.2_RNA|SEZ6_uc010cry.1_Missense_Mutation_p.R706H|SEZ6_uc002hdq.1_Missense_Mutation_p.R581H NM_178860 NP_849191 Q53EL9 SEZ6_HUMAN seizure related 6 homolog isoform 1 706 Extracellular (Potential). integral to membrane|plasma membrane large_intestine(1)|central_nervous_system(1) 2 Lung NSC(42;0.0137) Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111) TGTGTCATTGCGGGGCACCTC 0.617 NA 14 42 0 0 0.003163 0 0 CPD 1362 broad.mit.edu 37 17 28747973 28747973 + Missense_Mutation SNP G G A rs147588955 byFrequency TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:28747973G>A uc002hfb.1 + 3 1124 c.1109G>A c.(1108-1110)CGT>CAT p.R370H CPD_uc010wbo.1_Missense_Mutation_p.R123H|CPD_uc010wbp.1_RNA NM_001304 NP_001295 O75976 CBPD_HUMAN carboxypeptidase D precursor 370 Extracellular (Potential).|Carboxypeptidase-like 1. proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding liver(1)|skin(1) 2 GAGAACAATCGTGAGTCTTTG 0.398 NA 10 27 0 0 0.006214 0 0 GSDMB 55876 broad.mit.edu 37 17 38062503 38062503 + Missense_Mutation SNP T T C rs35104165 byFrequency TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:38062503T>C uc010cwj.2 - 7 754 c.749A>G c.(748-750)GAT>GGT p.D250G GSDMB_uc010cwi.2_5'UTR|GSDMB_uc010cwk.2_RNA|GSDMB_uc010cwl.2_RNA|GSDMB_uc010cwm.2_RNA|GSDMB_uc002htg.2_Missense_Mutation_p.D228G|GSDMB_uc002hth.2_Missense_Mutation_p.D237G|GSDMB_uc010wem.1_Missense_Mutation_p.D241G NM_001042471 NP_001035936 Q8TAX9 GSDMB_HUMAN gasdermin B isoform 1 245 Potential. D -> G (in a breast cancer sample; somatic mutation). cytoplasm p.D228G(2) breast(1)|pancreas(1) 2 GTTTCTGGAATCCTCCGAACC 0.478 NA 6 71 0 0 0.001984 0 0 KRT40 125115 broad.mit.edu 37 17 39138696 39138696 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:39138696G>T uc010cxh.1 - 5 711 c.550C>A c.(550-552)CTT>ATT p.L184I KRT40_uc002hvq.1_RNA NM_182497 NP_872303 Q6A162 K1C40_HUMAN type I hair keratin KA36 184 Rod.|Coil 1B. intermediate filament structural molecule activity 0 Breast(137;0.00043) AGCTGGCGAAGGGACAGTTCA 0.517 NA 34 57 1.30998e-17 2.41924e-17 0.005524 1 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183212 39183212 + Missense_Mutation SNP A A T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:39183212A>T uc002hvu.2 - 1 243 c.196T>A c.(196-198)TGT>AGT p.C66S NM_031957 NP_114163 Q9BYS1 KRA15_HUMAN keratin associated protein 1.5 66 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament 0 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) CTGGTCTCACAGCAGCTTGGC 0.622 NA 18 52 0 0 0.007413 0 0 KRT31 3881 broad.mit.edu 37 17 39553599 39553599 + Missense_Mutation SNP C C G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:39553599C>G uc002hwn.2 - 1 246 c.193G>C c.(193-195)GAC>CAC p.D65H KRT31_uc010cxn.2_Missense_Mutation_p.D65H NM_002277 NP_002268 Q15323 K1H1_HUMAN keratin 31 65 Coil 1A.|Rod. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton 0 Breast(137;0.000496) GCCAGGCGGTCGTTCAGGAAC 0.617 NA 39 98 0 0 0.002522 0 0 G6PC 2538 broad.mit.edu 37 17 41063145 41063145 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:41063145C>A uc002icb.1 + 5 855 c.776C>A c.(775-777)GCC>GAC p.A259D G6PC_uc010whf.1_3'UTR NM_000151 NP_000142 P35575 G6PC_HUMAN glucose-6-phosphatase, catalytic subunit 259 Helical; (Potential). gluconeogenesis|glucose homeostasis|transmembrane transport integral to endoplasmic reticulum membrane glucose-6-phosphatase activity|phosphate binding ovary(1)|breast(1)|kidney(1)|skin(1) 4 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.113) ACACCCTTTGCCAGCCTCCTC 0.592 NA Glycogen_Storage_Disease_type_Ia 15 32 0.00316338 0.00382276 0.003163 1 0 HEATR6 63897 broad.mit.edu 37 17 58144875 58144875 + Silent SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:58144875G>A uc002iyk.1 - 8 1175 c.1158C>T c.(1156-1158)TTC>TTT p.F386F HEATR6_uc010ddk.1_5'Flank|HEATR6_uc010wos.1_Silent_p.F218F NM_022070 NP_071353 Q6AI08 HEAT6_HUMAN HEAT repeat containing 6 386 Poly-Ser. binding ovary(1)|skin(1) 2 all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10) TGGAAGAACTGAAGGATGAGG 0.463 NA 21 48 0 0 0.00278 0 0 KCNH6 81033 broad.mit.edu 37 17 61615428 61615428 + Missense_Mutation SNP C C A rs34770814 TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:61615428C>A uc002jay.2 + 7 1584 c.1504C>A c.(1504-1506)CTG>ATG p.L502M KCNH6_uc010wpl.1_Missense_Mutation_p.L379M|KCNH6_uc010wpm.1_Missense_Mutation_p.L502M|KCNH6_uc002jaz.1_Missense_Mutation_p.L449M NM_030779 NP_110406 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H, 502 Helical; Name=Segment S6; (Potential). regulation of transcription, DNA-dependent|signal transduction skin(1) 1 Ibutilide(DB00308) GCCCCCAGCCCTGATGTACGC 0.662 NA 10 18 7.48243e-07 1.05445e-06 0.006214 1 0 SCN4A 6329 broad.mit.edu 37 17 62020280 62020280 + Silent SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:62020280C>T uc002jds.1 - 23 4271 c.4194G>A c.(4192-4194)GGG>GGA p.G1398G NM_000334 NP_000325 P35499 SCN4A_HUMAN voltage-gated sodium channel type 4 alpha 1398 IV.|Helical; Name=S2 of repeat IV; (Potential). muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(1)|pancreas(1)|skin(1) 3 Lamotrigine(DB00555) GCACGCACTCCCCTGTGAAGA 0.517 NA 34 61 0 0 0.003755 0 0 PLEKHM1P 440456 broad.mit.edu 37 17 62796704 62796704 + Silent SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:62796704G>A uc002jew.3 - 6 1247 c.336C>T c.(334-336)AAC>AAT p.N112N PLEKHM1P_uc002jev.3_RNA|PLEKHM1P_uc010wqe.1_Silent_p.N112N NR_024386 RecName: Full=Putative pleckstrin homology domain-containing family M member 1P; 0 AGTACTGCACGTTCACCCACT 0.697 NA 16 32 0 0 0.00499 0 0 GPRC5C 55890 broad.mit.edu 37 17 72436210 72436211 + Missense_Mutation DNP GG GG TT TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:72436210_72436211GG>TT uc002jks.2 + 1 334_335 c.295_296GG>TT c.(295-297)GGC>TTC p.G99F GPRC5C_uc002jkp.2_Missense_Mutation_p.G144F|GPRC5C_uc002jkq.2_Intron|GPRC5C_uc002jkr.2_Missense_Mutation_p.G111F|GPRC5C_uc002jkt.2_Missense_Mutation_p.G99F NM_018653 NP_061123 Q9NQ84 GPC5C_HUMAN G protein-coupled receptor family C, group 5, 99 Helical; Name=2; (Potential). cytoplasmic vesicle membrane|integral to plasma membrane G-protein coupled receptor activity|protein binding ovary(2)|prostate(1)|central_nervous_system(1)|pancreas(1) 5 GGGGACCCTGGGCCTCTTCTGC 0.594 NA 33 69 0 0 0.004672 0 0 KIAA0802 23255 broad.mit.edu 37 18 8784761 8784761 + Missense_Mutation SNP A A T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr18:8784761A>T uc002knr.2 + 6 1793 c.1651A>T c.(1651-1653)AGC>TGC p.S551C KIAA0802_uc002knq.2_Missense_Mutation_p.S551C|KIAA0802_uc010dkw.1_Missense_Mutation_p.S389C NM_015210 NP_056025 Q9Y4B5 CC165_HUMAN hypothetical protein LOC23255 902 0 AGAGTCCTCTAGCTTCCTCTC 0.607 NA 15 57 0 0 0.006122 0 0 CEP192 55125 broad.mit.edu 37 18 13056511 13056511 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr18:13056511G>T uc010xac.1 + 19 4002 c.3922G>T c.(3922-3924)GTG>TTG p.V1308L CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.V833L|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_5'UTR|CEP192_uc002krs.1_Missense_Mutation_p.V1049L NM_032142 NP_115518 E9PF99 E9PF99_HUMAN centrosomal protein 192kDa 1308 ovary(4)|pancreas(1) 5 GCAGAACTCTGTGGCTGTGGG 0.512 NA 22 33 1.10513e-12 1.86085e-12 0.002299 1 0 B4GALT6 9331 broad.mit.edu 37 18 29205658 29205658 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr18:29205658C>A uc002kwz.3 - 9 1365 c.1068G>T c.(1066-1068)AGG>AGT p.R356S B4GALT6_uc010dma.2_Missense_Mutation_p.R317S|B4GALT6_uc010dmb.2_Missense_Mutation_p.R317S|B4GALT6_uc002kwy.3_RNA NM_004775 NP_004766 Q9UBX8 B4GT6_HUMAN beta-1,4-galactosyltransferase 6 356 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane metal ion binding 0 OV - Ovarian serous cystadenocarcinoma(10;0.00791) GTATTTTTGGCCTATATATTA 0.358 NA 16 25 1.99824e-07 2.91462e-07 0.00499 1 0 KIAA1012 22878 broad.mit.edu 37 18 29447398 29447398 + Silent SNP T T G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr18:29447398T>G uc002kxc.3 - 17 2794 c.2430A>C c.(2428-2430)TCA>TCC p.S810S KIAA1012_uc002kxb.3_Silent_p.S756S|KIAA1012_uc002kxd.3_RNA NM_014939 NP_055754 Q9Y2L5 TPPC8_HUMAN hypothetical protein LOC22878 810 ER to Golgi vesicle-mediated transport cis-Golgi network 0 TTAAGAACTCTGAAATAACTT 0.264 NA 6 15 0 0 0.004482 0 0 SLC14A2 8170 broad.mit.edu 37 18 43204731 43204731 + Silent SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr18:43204731C>T uc010dnj.2 + 3 423 c.102C>T c.(100-102)TCC>TCT p.S34S SLC14A2_uc002lbb.2_Silent_p.S34S|SLC14A2_uc002lbe.2_Silent_p.S34S NM_007163 NP_009094 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), 34 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 CCTCGACATCCCCGGATACTC 0.572 NA 13 34 0 0 0.00245 0 0 SMAD2 4087 broad.mit.edu 37 18 45394791 45394791 + Silent SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr18:45394791G>A uc002lcy.2 - 5 806 c.558C>T c.(556-558)ATC>ATT p.I186I SMAD2_uc002lcz.2_Silent_p.I186I|SMAD2_uc010xdc.1_Silent_p.I156I|SMAD2_uc010xdd.1_Silent_p.I156I NM_005901 NP_005892 Q15796 SMAD2_HUMAN Sma- and Mad-related protein 2 isoform 1 186 anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis activin responsive factor complex|cytosol activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding large_intestine(3)|lung(1)|central_nervous_system(1) 5 GTTCTGTTAGGATCTCGGTGT 0.443 NA 14 18 0 0 0.003163 0 0 CDH19 28513 broad.mit.edu 37 18 64211367 64211367 + Missense_Mutation SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr18:64211367G>A uc002lkc.1 - 7 1193 c.1055C>T c.(1054-1056)GCT>GTT p.A352V CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.A352V|CDH19_uc002lkd.2_Missense_Mutation_p.A352V NM_021153 NP_066976 Q9H159 CAD19_HUMAN cadherin 19, type 2 preproprotein 352 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 Esophageal squamous(42;0.0132) AGTGGTGGAAGCCTCAGTGTG 0.418 NA 5 28 0 0 0.000602 0 0 TMX3 54495 broad.mit.edu 37 18 66344377 66344377 + Silent SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr18:66344377C>T uc002lkf.2 - 16 1293 c.1158G>A c.(1156-1158)CTG>CTA p.L386L TMX3_uc010xez.1_Silent_p.L245L NM_019022 NP_061895 Q96JJ7 TMX3_HUMAN thioredoxin domain containing 10 precursor 386 Helical; (Potential). cell redox homeostasis|glycerol ether metabolic process endoplasmic reticulum membrane|integral to membrane electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity skin(1) 1 TGATGACACCCAGTGGCAGGC 0.413 NA 32 56 0 0 0.001786 0 0 SALL3 27164 broad.mit.edu 37 18 76754025 76754025 + Silent SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr18:76754025G>T uc002lmt.2 + 2 2034 c.2034G>T c.(2032-2034)CCG>CCT p.P678P SALL3_uc010dra.2_Silent_p.P285P NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN sal-like 3 678 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) TGACGGACCCGAACCAGTGCG 0.607 NA 6 10 4.096e-09 6.21181e-09 0.001168 1 0 ADAMTSL5 339366 broad.mit.edu 37 19 1506627 1506627 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr19:1506627C>A uc002ltd.2 - 11 1520 c.1076G>T c.(1075-1077)CGC>CTC p.R359L ADAMTSL5_uc010dsl.2_Missense_Mutation_p.R128L|ADAMTSL5_uc010xgq.1_Missense_Mutation_p.R369L NM_213604 NP_998769 Q6ZMM2 ATL5_HUMAN ADAMTS-like 5 precursor 359 NTR. proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08) 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) TCGGTGGGCGCGGCCGCGGGT 0.662 NA 21 8 2.39556e-15 4.25259e-15 0.00278 1 0 ZNRF4 148066 broad.mit.edu 37 19 5455572 5455572 + Silent SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr19:5455572C>T uc002mca.3 + 1 147 c.70C>T c.(70-72)CTG>TTG p.L24L NM_181710 NP_859061 Q8WWF5 ZNRF4_HUMAN zinc and ring finger 4 precursor 24 integral to membrane zinc ion binding large_intestine(2) 2 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) GTCACTGCCTCTGAGCCACGC 0.662 NA 13 34 0 0 0.001368 0 0 ZNF878 729747 broad.mit.edu 37 19 12155620 12155620 + Missense_Mutation SNP T T C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr19:12155620T>C uc002mta.1 - 5 737 c.737A>G c.(736-738)TAT>TGT p.Y246C NM_001080404 NP_001073873 C9JN71 ZN878_HUMAN zinc finger protein 878 199 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding 0 CTTACATTCATAGGGTTTTTT 0.388 NA 5 125 0 0 0.000602 0 0 GIPC1 10755 broad.mit.edu 37 19 14591225 14591225 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr19:14591225C>A uc002myt.2 - 6 817 c.547G>T c.(547-549)GGG>TGG p.G183W GIPC1_uc002myu.2_Missense_Mutation_p.G183W|GIPC1_uc002myv.2_Missense_Mutation_p.G86W|GIPC1_uc002myw.2_Missense_Mutation_p.G86W|GIPC1_uc002myx.2_Missense_Mutation_p.G183W|GIPC1_uc002myy.2_Missense_Mutation_p.G86W NM_005716 NP_005707 O14908 GIPC1_HUMAN regulator of G-protein signalling 19 interacting 183 PDZ. endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane actin binding|myosin binding|protein homodimerization activity|receptor binding 0 AGGCTCTGCCCGTTAATGGCC 0.657 Pancreas(33;78 923 2910 41023 52850) NA OREG0025316 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 70 2.23348e-06 3.06268e-06 0.004007 1 0 NWD1 284434 broad.mit.edu 37 19 16890214 16890214 + Missense_Mutation SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr19:16890214G>A uc002neu.3 + 12 3091 c.2669G>A c.(2668-2670)GGC>GAC p.G890D NWD1_uc002net.3_Missense_Mutation_p.G755D|NWD1_uc002nev.3_Missense_Mutation_p.G684D Q149M9 NWD1_HUMAN RecName: Full=NACHT and WD repeat domain-containing protein 1; 890 WD 2. ATP binding skin(3)|ovary(2)|pancreas(2) 7 ACCCAGGATGGCATCATGGCT 0.552 NA OREG0025337 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 36 58 0 0 0.003271 0 0 LASS1 10715 broad.mit.edu 37 19 18989736 18989736 + Silent SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr19:18989736C>T uc002nkj.2 - 6 1085 c.1013G>A c.(1012-1014)TGA>TAA p.*338* GDF1_uc002nki.1_Intron|LASS1_uc010ebx.2_Silent_p.*240* NM_198207 NP_937850 P27544 CERS1_HUMAN LAG1 homolog, ceramide synthase 1 isoform 2 338 ceramide biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|microsome sphingosine N-acyltransferase activity 0 CCTCCACACTCACTCGGCTTT 0.642 NA 6 12 0 0 0.001168 0 0 ZNF536 9745 broad.mit.edu 37 19 30934662 30934662 + Nonsense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr19:30934662G>T uc002nsu.1 + 2 331 c.193G>T c.(193-195)GAG>TAG p.E65* ZNF536_uc010edd.1_Nonsense_Mutation_p.E65* NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 65 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) CGCATCCCTGGAGGAGAAGGC 0.677 NA 20 34 5.26018e-13 8.98941e-13 0.001882 1 0 HPN 3249 broad.mit.edu 37 19 35551631 35551631 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr19:35551631G>T uc002nxq.1 + 10 966 c.721G>T c.(721-723)GGG>TGG p.G241W HPN_uc002nxr.1_Missense_Mutation_p.G241W|HPN_uc002nxs.1_Missense_Mutation_p.G83W|HPN_uc010xsh.1_Missense_Mutation_p.G210W|HPN_uc002nxt.1_Missense_Mutation_p.G125W|LOC100128675_uc010xsi.1_Intron NM_002151 NP_002142 P05981 HEPS_HUMAN hepsin 241 Extracellular (Potential).|Peptidase S1. cell growth|proteolysis cytoplasm|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity ovary(1)|central_nervous_system(1) 2 all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) Coagulation factor VIIa(DB00036) GGTCTACCACGGGGGCTATCT 0.642 NA 16 61 8.60227e-14 1.48673e-13 0.004007 1 0 ZNF568 374900 broad.mit.edu 37 19 37441573 37441573 + Silent SNP A A T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr19:37441573A>T uc002ofc.2 + 7 2033 c.1518A>T c.(1516-1518)GTA>GTT p.V506V ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Silent_p.V430V|ZNF568_uc010efe.2_Silent_p.V430V|ZNF568_uc010eff.1_Intron NM_198539 NP_940941 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 506 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CATGTACAGTATGTGGAAAAG 0.383 NA 15 47 0 0 0.004007 0 0 PAPL 390928 broad.mit.edu 37 19 39592142 39592142 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr19:39592142C>A uc002oki.2 + 11 1352 c.1078C>A c.(1078-1080)CCG>ACG p.P360T PAPL_uc010egl.2_Silent_p.T318T NM_001004318 NP_001004318 Q6ZNF0 PAPL_HUMAN iron/zinc purple acid phosphatase-like protein 360 extracellular region acid phosphatase activity|metal ion binding 0 CTACACCAACCCGCGAGGGCC 0.527 NA 12 13 0.00316338 0.00382276 0.003163 1 0 FCGBP 8857 broad.mit.edu 37 19 40420076 40420076 + Missense_Mutation SNP G G T rs145294097 TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr19:40420076G>T uc002omp.3 - 6 2926 c.2918C>A c.(2917-2919)ACG>AAG p.T973K NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 973 VWFD 2. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GCCAAAGTCCGTGCGCACGAC 0.587 NA 10 35 0.000442599 0.000561525 0.006214 1 0 SULT2A1 6822 broad.mit.edu 37 19 48374763 48374763 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr19:48374763C>A uc002phr.2 - 6 947 c.807G>T c.(805-807)TTG>TTT p.L269F NM_003167 NP_003158 Q06520 ST2A1_HUMAN bile-salt sulfotransferase 2A1 269 3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process cytosol bile-salt sulfotransferase activity ovary(1)|pancreas(1) 2 all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552) TCTCTTGGAACAATTTATCAA 0.443 NA 21 51 6.44725e-10 1.01125e-09 0.002299 1 0 TSKS 60385 broad.mit.edu 37 19 50245190 50245190 + Silent SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr19:50245190G>T uc002ppm.2 - 9 1460 c.1449C>A c.(1447-1449)GGC>GGA p.G483G NM_021733 NP_068379 Q9UJT2 TSKS_HUMAN testis-specific kinase substrate 483 protein binding large_intestine(1)|skin(1) 2 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) CAGGAGTCAGGCCCCTCTGCT 0.592 NA 17 40 1.56452e-12 2.60564e-12 0.007413 1 0 ASPDH 554235 broad.mit.edu 37 19 51015483 51015483 + Missense_Mutation SNP A A T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr19:51015483A>T uc010enz.2 - 6 780 c.718T>A c.(718-720)TTT>ATT p.F240I JOSD2_uc002psn.1_5'Flank|JOSD2_uc002pso.1_5'Flank|JOSD2_uc002psp.1_5'Flank|JOSD2_uc002psq.1_5'Flank|ASPDH_uc002psr.3_Missense_Mutation_p.F135I NM_001114598 NP_001108070 A6ND91 ASPD_HUMAN aspartate dehydrogenase isoform 1 240 NAD biosynthetic process|NADP catabolic process aspartate dehydrogenase activity|NADP binding 0 TGCACAGCAAAGCTTCGGCCC 0.692 NA 4 20 0 0 0.000602 0 0 IGLON5 402665 broad.mit.edu 37 19 51826946 51826947 + Missense_Mutation DNP GG GG TT TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr19:51826946_51826947GG>TT uc002pwc.2 + 3 189_190 c.189_190GG>TT c.(187-192)GTGGCC>GTTTCC p.A64S NM_001101372 NP_001094842 A6NGN9 IGLO5_HUMAN IgLON family member 5 precursor 64 Ig-like C2-type 1. extracellular region 0 TGACCCGCGTGGCCTGGCTGAA 0.639 NA 7 27 0 0 0.004672 0 0 PRKCG 5582 broad.mit.edu 37 19 54407997 54407997 + Splice_Site SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr19:54407997G>T uc002qcq.1 + 16 2046 c.1764_splice c.e16+1 p.G588_splice PRKCG_uc010yeg.1_Splice_Site_p.G588_splice|PRKCG_uc010yeh.1_Intron NM_002739 NP_002730 P05129 KPCG_HUMAN protein kinase C, gamma activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding lung(4)|ovary(2)|pancreas(2)|large_intestine(1) 9 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) CTGCAAGGGGGTGAGAGCCCC 0.473 NA 4 6 0.000602214 0.000755655 0.000602 1 0 VSTM1 284415 broad.mit.edu 37 19 54561782 54561782 + Missense_Mutation SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr19:54561782C>T uc002qcw.3 - 3 309 c.133G>A c.(133-135)GTG>ATG p.V45M VSTM1_uc010erb.2_RNA|VSTM1_uc002qcx.3_Missense_Mutation_p.V45M NM_198481 NP_940883 Q6UX27 VSTM1_HUMAN V-set and transmembrane domain containing 1 45 Ig-like V-type. integral to membrane 0 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.165) TTCAGGGTCACATTGCTCTCG 0.522 NA 15 86 0 0 0.00245 0 0 NLRP4 147945 broad.mit.edu 37 19 56390295 56390295 + Silent SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr19:56390295C>A uc002qmd.3 + 9 3254 c.2832C>A c.(2830-2832)GCC>GCA p.A944A NLRP4_uc002qmf.2_Silent_p.A869A|NLRP4_uc010etf.2_Silent_p.A719A NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 944 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) TCTGTGAGGCCCTGAGACACC 0.592 NA 15 25 6.31663e-08 9.39291e-08 0.003163 1 0 GALP 85569 broad.mit.edu 37 19 56691994 56691994 + Silent SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr19:56691994C>T uc002qmo.1 + 3 209 c.127C>T c.(127-129)CTG>TTG p.L43L GALP_uc010eti.2_Intron NM_033106 NP_149097 Q9UBC7 GALP_HUMAN galanin-like peptide isoform 1 precursor 43 neuropeptide signaling pathway extracellular region hormone activity 0 Colorectal(82;0.000147)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0507) TGGCTACCTTCTGGGTCCCGG 0.592 NA 13 31 0 0 0.001855 0 0 PEG3 5178 broad.mit.edu 37 19 57326879 57326879 + Nonsense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr19:57326879G>T uc002qnu.2 - 7 3282 c.2931C>A c.(2929-2931)TGC>TGA p.C977* ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Nonsense_Mutation_p.C948*|PEG3_uc002qnv.2_Nonsense_Mutation_p.C977*|PEG3_uc002qnw.2_Nonsense_Mutation_p.C853*|PEG3_uc002qnx.2_Nonsense_Mutation_p.C851*|PEG3_uc010etr.2_Nonsense_Mutation_p.C977* NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 977 C2H2-type 5. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TATGAGCAAAGCACTCCCCAC 0.483 NA 12 92 2.27111e-07 3.28129e-07 0.001368 1 0 ZNF460 10794 broad.mit.edu 37 19 57803456 57803456 + Missense_Mutation SNP G G C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr19:57803456G>C uc002qog.2 + 3 1869 c.1547G>C c.(1546-1548)AGC>ACC p.S516T ZNF460_uc010ygv.1_Missense_Mutation_p.S475T NM_006635 NP_006626 Q14592 ZN460_HUMAN zinc finger protein 460 516 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TCTTGTGAGAGCACAGATCTC 0.527 NA 13 65 0 0 0.001368 0 0 ZNF551 90233 broad.mit.edu 37 19 58199379 58199379 + Missense_Mutation SNP G G C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr19:58199379G>C uc002qpw.3 + 3 1911 c.1688G>C c.(1687-1689)AGA>ACA p.R563T ZNF551_uc002qpv.3_Missense_Mutation_p.R506T|ZNF776_uc002qpx.2_Intron NM_138347 NP_612356 Q7Z340 ZN551_HUMAN zinc finger protein 551 579 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) CAACACCAGAGAGTTCACACT 0.453 NA 8 77 0 0 0.00308 0 0 MYT1L 23040 broad.mit.edu 37 2 1914044 1914045 + Missense_Mutation DNP GG GG CC TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr2:1914044_1914045GG>CC uc002qxe.2 - 13 2611_2612 c.1784_1785CC>GG c.(1783-1785)TCC>TGG p.S595W MYT1L_uc002qxd.2_Missense_Mutation_p.S593W|MYT1L_uc010ewl.1_RNA NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 595 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) GGCTGGACTTGGACACGTCGCA 0.614 NA 10 14 0 0 0.004672 0 0 FAM49A 81553 broad.mit.edu 37 2 16742303 16742303 + Missense_Mutation SNP C C G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr2:16742303C>G uc010exm.1 - 8 813 c.665G>C c.(664-666)TGC>TCC p.C222S FAM49A_uc002rck.1_Missense_Mutation_p.C222S NM_030797 NP_110424 Q9H0Q0 FA49A_HUMAN family with sequence similarity 49, member A 222 intracellular 0 Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088) GBM - Glioblastoma multiforme(3;0.00969) TGTGCTGAGGCAGTCTGTGGT 0.428 NA 15 43 0 0 0.006122 0 0 CLIP4 79745 broad.mit.edu 37 2 29366763 29366763 + Silent SNP G G A rs144223606 byFrequency TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr2:29366763G>A uc002rmv.2 + 7 1076 c.837G>A c.(835-837)ACG>ACA p.T279T CLIP4_uc002rmu.2_Silent_p.T279T|CLIP4_uc010ezm.1_Silent_p.T279T|CLIP4_uc002rmw.2_RNA|CLIP4_uc010ymn.1_Silent_p.T261T NM_024692 NP_078968 Q8N3C7 CLIP4_HUMAN CAP-GLY domain containing linker protein family, 279 ovary(1) 1 Acute lymphoblastic leukemia(172;0.155) CAATGCTTACGTCACTTGGCC 0.463 NA 7 182 0 0 0.001984 0 0 LTBP1 4052 broad.mit.edu 37 2 33498809 33498809 + Missense_Mutation SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr2:33498809G>A uc002ros.2 + 16 2707 c.2707G>A c.(2707-2709)GAG>AAG p.E903K LTBP1_uc002rot.2_Missense_Mutation_p.E577K|LTBP1_uc002rou.2_Missense_Mutation_p.E576K|LTBP1_uc002rov.2_Missense_Mutation_p.E523K|LTBP1_uc010ymz.1_Missense_Mutation_p.E576K|LTBP1_uc010yna.1_Missense_Mutation_p.E523K NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 902 EGF-like 4; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) TATATGCTACGAGGGCTACAG 0.348 NA 8 14 0 0 0.004482 0 0 NRXN1 9378 broad.mit.edu 37 2 50724812 50724812 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr2:50724812G>T uc010fbq.2 - 14 4135 c.2658C>A c.(2656-2658)AAC>AAA p.N886K NRXN1_uc002rxb.3_Missense_Mutation_p.N518K|NRXN1_uc002rxe.3_Missense_Mutation_p.N846K|NRXN1_uc002rxc.1_RNA NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor 212 Extracellular (Potential).|Laminin G-like. angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CAGTCTCTATGTTATGGAACT 0.403 NA 26 50 4.43304e-23 8.6397e-23 0.00632 1 0 CYP26B1 56603 broad.mit.edu 37 2 72360350 72360350 + Silent SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr2:72360350G>T uc002sih.1 - 5 948 c.948C>A c.(946-948)CCC>CCA p.P316P CYP26B1_uc010yra.1_Silent_p.P299P|CYP26B1_uc010yrb.1_Silent_p.P241P NM_019885 NP_063938 Q9NR63 CP26B_HUMAN cytochrome P450, family 26, subfamily b, 316 cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding skin(2) 2 CCAGCACAGTGGGGTGCTTCA 0.657 NA 7 26 0.00198382 0.0024229 0.001984 1 0 CYP26B1 56603 broad.mit.edu 37 2 72362006 72362006 + Nonsense_Mutation SNP T T A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr2:72362006T>A uc002sih.1 - 4 745 c.745A>T c.(745-747)AAG>TAG p.K249* CYP26B1_uc010yra.1_Nonsense_Mutation_p.K232*|CYP26B1_uc010yrb.1_Nonsense_Mutation_p.K174* NM_019885 NP_063938 Q9NR63 CP26B_HUMAN cytochrome P450, family 26, subfamily b, 249 cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding skin(2) 2 CGGATGGCCTTCTCCAGCCCC 0.612 NA 10 55 0 0 0.001855 0 0 REG1A 5967 broad.mit.edu 37 2 79350037 79350037 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr2:79350037G>T uc002snz.2 + 5 495 c.392G>T c.(391-393)AGT>ATT p.S131I REG1A_uc010ysd.1_Missense_Mutation_p.S131I NM_002909 NP_002900 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha precursor 131 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding 0 GCCCCAAGCAGTGTTAATCCT 0.577 NA 36 84 5.04308e-16 9.02238e-16 0.00623 1 0 CKAP2L 150468 broad.mit.edu 37 2 113514765 113514765 + Silent SNP G G C rs145362538 TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr2:113514765G>C uc002tie.2 - 4 262 c.183C>G c.(181-183)ACC>ACG p.T61T CKAP2L_uc002tif.2_5'UTR|CKAP2L_uc010yxp.1_Intron|CKAP2L_uc010yxq.1_5'UTR NM_152515 NP_689728 Q8IYA6 CKP2L_HUMAN cytoskeleton associated protein 2-like 61 centrosome 0 CAACATGGTTGGTAACATCAT 0.353 NA 10 134 0 0 0.001368 0 0 LRP1B 53353 broad.mit.edu 37 2 141130675 141130675 + Missense_Mutation SNP T T A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr2:141130675T>A uc002tvj.1 - 69 11642 c.10670A>T c.(10669-10671)CAG>CTG p.Q3557L NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3557 Extracellular (Potential).|LDL-receptor class A 27. 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) ACACCGGAACTGATCTTTGGA 0.368 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 27 38 0 0 0.005443 0 0 ACVR1C 130399 broad.mit.edu 37 2 158406824 158406824 + Missense_Mutation SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr2:158406824C>T uc002tzk.3 - 4 868 c.625G>A c.(625-627)GTG>ATG p.V209M ACVR1C_uc002tzl.3_Missense_Mutation_p.V129M|ACVR1C_uc010fof.2_Intron|ACVR1C_uc010foe.2_Missense_Mutation_p.V159M NM_145259 NP_660302 Q8NER5 ACV1C_HUMAN activin A receptor, type IC isoform 1 209 ATP (By similarity).|Protein kinase.|Cytoplasmic (Potential). apoptosis|cell differentiation|regulation of apoptosis activin receptor complex activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity lung(3)|ovary(2)|skin(2) 7 CCATGCCACACCTCACCAAAT 0.438 NA 19 117 0 0 0.007413 0 0 CDCA7 83879 broad.mit.edu 37 2 174231031 174231031 + Silent SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr2:174231031C>T uc002uid.1 + 7 950 c.819C>T c.(817-819)TGC>TGT p.C273C CDCA7_uc002uic.1_Silent_p.C352C|CDCA7_uc010zej.1_Silent_p.C308C|CDCA7_uc010zek.1_Silent_p.C231C NM_145810 NP_665809 Q9BWT1 CDCA7_HUMAN cell division cycle associated 7 isoform 2 273 Mediates transcriptional activity. regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.116) GTCATCAATGCCGTCAGAAGA 0.433 NA 20 51 0 0 0.001523 0 0 SPHKAP 80309 broad.mit.edu 37 2 228883255 228883255 + Missense_Mutation SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr2:228883255G>A uc002vpq.2 - 7 2362 c.2315C>T c.(2314-2316)TCT>TTT p.S772F SPHKAP_uc002vpp.2_Missense_Mutation_p.S772F|SPHKAP_uc010zlx.1_Missense_Mutation_p.S772F NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 772 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) GCTAAGTGGAGAGCTGCTGGA 0.502 NA 25 91 0 0 0.004656 0 0 ALPI 248 broad.mit.edu 37 2 233322984 233322984 + Missense_Mutation SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr2:233322984C>T uc002vst.3 + 9 1126 c.1049C>T c.(1048-1050)GCG>GTG p.A350V ALPI_uc002vsu.3_Missense_Mutation_p.A261V NM_001631 NP_001622 P09923 PPBI_HUMAN intestinal alkaline phosphatase precursor 350 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding p.A350V(1) central_nervous_system(1) 1 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) CTCACTGAGGCGGTCATGTTC 0.627 NA 14 38 0 0 0.00245 0 0 JAG1 182 broad.mit.edu 37 20 10623158 10623158 + Missense_Mutation SNP G G C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr20:10623158G>C uc002wnw.2 - 21 3066 c.2550C>G c.(2548-2550)CAC>CAG p.H850Q JAG1_uc010gcd.1_Missense_Mutation_p.H408Q NM_000214 NP_000205 P78504 JAG1_HUMAN jagged 1 precursor 850 Extracellular (Potential).|EGF-like 16; calcium-binding (Potential). angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1) 9 TGGCACCACTGTGCCCTGGAG 0.537 NA Alagille_Syndrome 3 27 0 0 0.004672 0 0 DOK5 55816 broad.mit.edu 37 20 53260108 53260108 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr20:53260108C>A uc002xwy.2 + 7 1067 c.847C>A c.(847-849)CGC>AGC p.R283S DOK5_uc010gin.2_Missense_Mutation_p.R175S|DOK5_uc002xwz.2_Missense_Mutation_p.R145S NM_018431 NP_060901 Q9P104 DOK5_HUMAN docking protein 5 283 insulin receptor binding ovary(1) 1 Colorectal(105;0.202) ACAGCTCTACCGCTTGCAAGG 0.662 NA 10 29 1.58986e-06 2.19325e-06 0.008291 1 0 TAF4 6874 broad.mit.edu 37 20 60581652 60581652 + Missense_Mutation SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr20:60581652C>T uc002ybs.2 - 7 2137 c.2137G>A c.(2137-2139)GTG>ATG p.V713M NM_003185 NP_003176 O00268 TAF4_HUMAN TBP-associated factor 4 713 interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2)|pancreas(1) 3 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) GCACTGGTCACGGTGGCCGCC 0.726 NA 9 12 0 0 0.004482 0 0 OPRL1 4987 broad.mit.edu 37 20 62729200 62729200 + Silent SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr20:62729200G>T uc002yic.2 + 4 681 c.279G>T c.(277-279)CTG>CTT p.L93L OPRL1_uc002yid.2_Silent_p.L93L|OPRL1_uc002yif.3_Silent_p.L88L NM_182647 NP_872588 P41146 OPRX_HUMAN opiate receptor-like 1 93 Helical; Name=2; (Potential). elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception integral to plasma membrane protein binding|X-opioid receptor activity central_nervous_system(1)|skin(1) 2 all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08) TCTTTAACCTGGCCCTGGCCG 0.572 NA 47 94 4.0306e-16 7.23927e-16 0.00361 1 0 GCFC1 94104 broad.mit.edu 37 21 34123457 34123457 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr21:34123457C>A uc002yqn.2 - 9 1770 c.1580G>T c.(1579-1581)CGT>CTT p.R527L GCFC1_uc002yql.2_Missense_Mutation_p.R36L|GCFC1_uc002yqm.2_Missense_Mutation_p.R21L|GCFC1_uc002yqo.2_RNA|GCFC1_uc002yqp.2_Missense_Mutation_p.R527L NM_016631 NP_057715 Q9Y5B6 GCFC1_HUMAN GC-rich sequence DNA-binding factor candidate 527 cytosol|nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 TGCAATGCGACGTTTTGCATG 0.463 NA 10 41 0.00829132 0.00988912 0.008291 1 0 KRTAP12-2 353323 broad.mit.edu 37 21 46086478 46086478 + Missense_Mutation SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr21:46086478C>T uc002zfu.2 - 1 367 c.326G>A c.(325-327)AGC>AAC p.S109N C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_181684 NP_859012 P59991 KR122_HUMAN keratin associated protein 12-2 109 23 X 5 AA approximate repeats.|18. keratin filament 0 AGGCCTGCAGCTCACAGGCAC 0.642 NA 11 63 0 0 0.001855 0 0 KREMEN1 83999 broad.mit.edu 37 22 29521313 29521313 + Silent SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr22:29521313C>T uc011akm.1 + 5 553 c.540C>T c.(538-540)TAC>TAT p.Y180Y KREMEN1_uc003ael.2_Silent_p.Y180Y|KREMEN1_uc011akn.1_Silent_p.Y63Y NM_032045 NP_114434 Q96MU8 KREM1_HUMAN kringle-containing transmembrane protein 1 178 Extracellular (Potential).|WSC. cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane|membrane fraction protein binding ovary(3)|lung(2) 5 ACTGGAAGTACGGGGAGGCAG 0.527 NA 54 74 0 0 0.00361 0 0 SLC5A1 6523 broad.mit.edu 37 22 32498113 32498113 + Silent SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr22:32498113C>T uc003amc.2 + 13 1786 c.1554C>T c.(1552-1554)CCC>CCT p.P518P SLC5A1_uc011alz.1_Silent_p.P391P NM_000343 NP_000334 P13866 SC5A1_HUMAN solute carrier family 5 (sodium/glucose 518 Extracellular (Potential). carbohydrate metabolic process integral to plasma membrane glucose:sodium symporter activity|protein binding skin(1) 1 GCAACTGTCCCACGATTATCT 0.488 NA 4 54 0 0 0.000248 0 0 PRR5-ARHGAP8 553158 broad.mit.edu 37 22 45110519 45110519 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr22:45110519C>A uc003bfd.2 + 2 455 c.183C>A c.(181-183)GAC>GAA p.D61E PRR5_uc003bew.1_Missense_Mutation_p.D52E|PRR5_uc003bex.1_5'UTR|PRR5_uc010gzt.1_Missense_Mutation_p.D84E|PRR5_uc010gzu.1_Intron|PRR5_uc003bey.1_Missense_Mutation_p.D52E|PRR5_uc003bez.1_5'UTR|PRR5-ARHGAP8_uc003bfc.2_Missense_Mutation_p.D61E|PRR5-ARHGAP8_uc011aqi.1_Missense_Mutation_p.D52E|PRR5_uc003bfa.1_5'UTR|PRR5_uc003bfb.1_Missense_Mutation_p.D61E|PRR5_uc003bfe.1_RNA NM_181335 NP_851852 Rho GTPase activating protein 8 isoform 2 skin(2) 2 GGCTGCCCGACCAGGAGCTCT 0.647 NA 13 45 6.72482e-11 1.06206e-10 0.003163 1 0 CELSR1 9620 broad.mit.edu 37 22 46762935 46762935 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr22:46762935C>A uc003bhw.1 - 29 8160 c.8160G>T c.(8158-8160)AAG>AAT p.K2720N NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 2720 Cytoplasmic (Potential). central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) CCAGGTGCAGCTTCCTCCCGC 0.706 NA OREG0026655 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 11 1.12685e-05 1.49594e-05 0.004482 1 0 CHL1 10752 broad.mit.edu 37 3 424181 424181 + Missense_Mutation SNP A A T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr3:424181A>T uc003bou.2 + 17 2226 c.1955A>T c.(1954-1956)AAC>ATC p.N652I CHL1_uc003bot.2_Missense_Mutation_p.N668I|CHL1_uc003bow.1_Missense_Mutation_p.N652I|CHL1_uc011asi.1_Missense_Mutation_p.N668I|uc003box.1_Intron NM_006614 NP_006605 O00533 CHL1_HUMAN cell adhesion molecule with homology to L1CAM 652 Fibronectin type-III 1.|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) TTTGAAGGAAACAAAGAAGAG 0.363 NA 15 47 0 0 0.004007 0 0 GRM7 2917 broad.mit.edu 37 3 6903419 6903419 + Missense_Mutation SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr3:6903419C>T uc003bqm.2 + 1 618 c.344C>T c.(343-345)GCG>GTG p.A115V GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.A115V|GRM7_uc003bql.2_Missense_Mutation_p.A115V NM_000844 NP_000835 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 isoform a 115 Extracellular (Potential). negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding ovary(4)|lung(3) 7 L-Glutamic Acid(DB00142) GACACTTACGCGCTCGAACAG 0.607 NA 4 30 0 0 0.000248 0 0 COLQ 8292 broad.mit.edu 37 3 15512054 15512054 + Silent SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr3:15512054G>T uc003bzx.2 - 11 832 c.706C>A c.(706-708)CGA>AGA p.R236R COLQ_uc003bzv.2_Silent_p.R226R|COLQ_uc003bzz.2_Silent_p.R227R|COLQ_uc010heo.2_Silent_p.R202R|COLQ_uc003cac.1_RNA|COLQ_uc003cae.1_Silent_p.R95R|COLQ_uc003cad.1_RNA NM_005677 NP_005668 Q9Y215 COLQ_HUMAN acetylcholinesterase collagen-like tail subunit 236 Heparan sulfate proteoglycan binding (Potential).|Collagen-like 1. acetylcholine catabolic process in synaptic cleft|asymmetric protein localization basal lamina|cell junction|collagen|extracellular space|synaptic cleft 0 TGCTTGCCTCGTTTTCCTGGT 0.552 NA 35 120 1.36161e-19 2.56633e-19 0.004289 1 0 NEK10 152110 broad.mit.edu 37 3 27332782 27332782 + Nonsense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr3:27332782C>A uc003cdt.1 - 19 1850 c.1576G>T c.(1576-1578)GGA>TGA p.G526* NEK10_uc003cds.1_5'UTR NM_199347 NP_955379 Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 isoform 3 526 ATP (By similarity).|Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1) 13 GCTCCACTTCCAAGATGATCC 0.403 NA 17 20 2.94398e-08 4.40635e-08 0.007413 1 0 EOMES 8320 broad.mit.edu 37 3 27758588 27758588 + Silent SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr3:27758588C>A uc003cdx.2 - 6 2034 c.2034G>T c.(2032-2034)GGG>GGT p.G678G EOMES_uc003cdy.3_Silent_p.G697G|EOMES_uc010hfn.2_3'UTR|EOMES_uc011axc.1_Silent_p.G402G NM_005442 NP_005433 O95936 EOMES_HUMAN eomesodermin 678 Required for transcription activation (By similarity). CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|breast(1) 4 AAGCATAATACCCTCCCATGC 0.368 NA 7 54 0.00198382 0.0024229 0.001984 1 0 GOLGA4 2803 broad.mit.edu 37 3 37360619 37360619 + Missense_Mutation SNP G G C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr3:37360619G>C uc003cgv.2 + 12 1783 c.1479G>C c.(1477-1479)GAG>GAC p.E493D GOLGA4_uc010hgr.1_Intron|GOLGA4_uc003cgw.2_Missense_Mutation_p.E515D|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Missense_Mutation_p.E374D NM_002078 NP_002069 Q13439 GOGA4_HUMAN golgi autoantigen, golgin subfamily a, 4 493 Potential.|Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding ovary(2)|breast(1)|central_nervous_system(1) 4 CCAGAAAAGAGCAGGAACTGA 0.383 NA 13 29 0 0 0.001368 0 0 SCN10A 6336 broad.mit.edu 37 3 38797307 38797307 + Missense_Mutation SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr3:38797307C>T uc003ciq.2 - 10 1433 c.1433G>A c.(1432-1434)CGC>CAC p.R478H NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 478 sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) AGGATCAGAGCGGGGTGATTT 0.274 NA 11 172 0 0 0.001368 0 0 CYP8B1 1582 broad.mit.edu 37 3 42917134 42917135 + Missense_Mutation DNP GC GC TT rs149860457 TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 GC GC - - GC GC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr3:42917134_42917135GC>TT uc003cmh.2 - 1 499_500 c.174_175GC>AA c.(172-177)AAGCGC>AAAAGC p.R59S CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Missense_Mutation_p.R59S NM_004391 NP_004382 Q9UNU6 CP8B1_HUMAN cytochrome P450, family 8, subfamily B, 59 bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome 7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249) GTCCTCATGCGCTTCAGAAATT 0.569 NA 17 27 0 0 0.004672 0 0 HTR1F 3355 broad.mit.edu 37 3 88040472 88040472 + Silent SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr3:88040472C>T uc003dqr.2 + 2 731 c.573C>T c.(571-573)TAC>TAT p.Y191Y NM_000866 NP_000857 P30939 5HT1F_HUMAN 5-hydroxytryptamine (serotonin) receptor 1F 191 Helical; Name=5; (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane serotonin binding|serotonin receptor activity ovary(3) 3 all_cancers(8;0.147) Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664) Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315) GAGCTTTCTACATCCCACTGG 0.413 NA 13 24 0 0 0.001368 0 0 EPHA6 285220 broad.mit.edu 37 3 97167415 97167415 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr3:97167415C>A uc010how.1 + 7 1778 c.1735C>A c.(1735-1737)CAT>AAT p.H579N EPHA6_uc011bgo.1_RNA|EPHA6_uc011bgp.1_5'UTR|EPHA6_uc003drs.3_5'UTR|EPHA6_uc003drr.3_5'UTR|EPHA6_uc003drt.2_5'UTR|EPHA6_uc010hox.1_RNA NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a 484 Fibronectin type-III 2.|Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 CCCCCAGGAACATGAGCAGCT 0.423 NA 15 57 0.00244969 0.00297602 0.00245 1 0 OR5H6 79295 broad.mit.edu 37 3 97984019 97984019 + Silent SNP A A T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr3:97984019A>T uc003dsi.1 + 1 891 c.891A>T c.(889-891)ATA>ATT p.I297I NM_001005479 NP_001005479 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, 297 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|large_intestine(1) 3 ACACTGTCATAGTTCCTTTAT 0.378 NA 21 30 0 0 0.004656 0 0 COL6A6 131873 broad.mit.edu 37 3 130290003 130290003 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr3:130290003C>A uc010htl.2 + 6 2774 c.2743C>A c.(2743-2745)CTC>ATC p.L915I NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 915 VWFA 5.|Nonhelical region. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 CCCCCAAGTCCTCATTGTGAT 0.562 NA 17 15 0.00400662 0.00482904 0.004007 1 0 TM4SF18 116441 broad.mit.edu 37 3 149040216 149040216 + Missense_Mutation SNP T T A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr3:149040216T>A uc003exa.2 - 5 555 c.418A>T c.(418-420)ACA>TCA p.T140S NM_138786 NP_620141 Q96CE8 T4S18_HUMAN transmembrane 4 L six family member 18 140 Extracellular (Potential). integral to membrane ovary(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) CTAGAATCTGTAAGGAAACTG 0.398 NA 7 22 0 0 0.006214 0 0 CCDC39 339829 broad.mit.edu 37 3 180334315 180334315 + Missense_Mutation SNP A A G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr3:180334315A>G uc010hxe.2 - 18 2690 c.2575T>C c.(2575-2577)TAC>CAC p.Y859H CCDC39_uc003fkn.2_RNA|TTC14_uc003fkm.2_Intron NM_181426 NP_852091 Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 859 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton ovary(4) 4 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TGTTGAAAGTATGTTTGAAGG 0.279 NA 3 9 0 0 0.004672 0 0 SST 6750 broad.mit.edu 37 3 187387016 187387016 + Missense_Mutation SNP G G A rs149673471 TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr3:187387016G>A uc003frn.2 - 2 310 c.188C>T c.(187-189)ACG>ATG p.T63M NM_001048 NP_001039 P61278 SMS_HUMAN somatostatin preproprotein 63 digestion|G-protein coupled receptor protein signaling pathway|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission extracellular space hormone activity pancreas(1) 1 all_cancers(143;4.06e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.00444) Bromocriptine(DB01200)|Cysteamine(DB00847) ATCATTCTCCGTCTGGTTGGG 0.517 NA 30 200 0 0 0.002445 0 0 ACAP2 23527 broad.mit.edu 37 3 195022774 195022774 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr3:195022774C>A uc003fun.3 - 14 1487 c.1246G>T c.(1246-1248)GAC>TAC p.D416Y NM_012287 NP_036419 Q15057 ACAP2_HUMAN centaurin, beta 2 416 Arf-GAP.|C4-type. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding large_intestine(1)|ovary(1) 2 AGGCCACAGTCACAACAGCTG 0.542 NA 36 91 2.51541e-25 4.96577e-25 0.004878 1 0 LRRC33 375387 broad.mit.edu 37 3 196387130 196387130 + Missense_Mutation SNP G G C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr3:196387130G>C uc003fwv.2 + 3 720 c.616G>C c.(616-618)GAG>CAG p.E206Q NM_198565 NP_940967 Q86YC3 LRC33_HUMAN leucine rich repeat containing 33 precursor 206 Extracellular (Potential).|LRR 7. integral to membrane ovary(2)|central_nervous_system(1) 3 all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00326) CGGCCTGGCTGAGCTGAGGCA 0.632 NA 14 26 0 0 0.003163 0 0 ZNF721 170960 broad.mit.edu 37 4 436078 436078 + Missense_Mutation SNP T T A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr4:436078T>A uc003gag.2 - 3 2869 c.2178A>T c.(2176-2178)AAA>AAT p.K726N ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Missense_Mutation_p.K758N|ZNF721_uc010ibe.2_Missense_Mutation_p.K714N NM_133474 NP_597731 D9N162 D9N162_HUMAN zinc finger protein 721 726 intracellular nucleic acid binding|zinc ion binding ovary(1) 1 GATCTTCACATTTGTAGGGTT 0.393 NA 8 21 0 0 0.004482 0 0 ZFYVE28 57732 broad.mit.edu 37 4 2307147 2307147 + Missense_Mutation SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr4:2307147G>A uc003gex.1 - 8 1239 c.920C>T c.(919-921)GCG>GTG p.A307V ZFYVE28_uc011bvk.1_Missense_Mutation_p.A237V|ZFYVE28_uc011bvl.1_Missense_Mutation_p.A277V|ZFYVE28_uc003gew.1_Missense_Mutation_p.A193V NM_020972 NP_066023 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 307 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding skin(2)|ovary(1) 3 GAGGGCAGGCGCCAGGGCAGC 0.657 NA 13 33 0 0 0.00245 0 0 SLIT2 9353 broad.mit.edu 37 4 20490581 20490581 + Missense_Mutation SNP C C G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr4:20490581C>G uc003gpr.1 + 8 955 c.751C>G c.(751-753)CAA>GAA p.Q251E SLIT2_uc003gps.1_Missense_Mutation_p.Q251E NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 251 LRRCT 1. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 AGCCGAGGTTCAAAAACGAGA 0.507 NA 18 92 0 0 0.006122 0 0 SLIT2 9353 broad.mit.edu 37 4 20591325 20591325 + Silent SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr4:20591325C>T uc003gpr.1 + 30 3351 c.3147C>T c.(3145-3147)CAC>CAT p.H1049H SLIT2_uc003gps.1_Silent_p.H1041H NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 1049 EGF-like 4. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 CCTGCCAGCACGATTCAAAGT 0.483 NA 7 37 0 0 0.001984 0 0 SLC34A2 10568 broad.mit.edu 37 4 25669599 25669599 + Silent SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr4:25669599G>A uc003grr.2 + 6 702 c.621G>A c.(619-621)CGG>CGA p.R207R SLC34A2_uc003grs.2_Silent_p.R206R|SLC34A2_uc010iev.2_Silent_p.R206R NM_006424 NP_006415 O95436 NPT2B_HUMAN solute carrier family 34 (sodium phosphate), 207 Cytoplasmic (Potential). cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity skin(3)|ovary(1)|kidney(1) 5 Breast(46;0.0503) TGGGAGATCGGAGTGAGTTCA 0.498 NA 34 11 0 0 0.005524 0 0 WDR19 57728 broad.mit.edu 37 4 39271619 39271619 + Missense_Mutation SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr4:39271619G>A uc003gtv.2 + 31 3536 c.3382G>A c.(3382-3384)GTT>ATT p.V1128I WDR19_uc011byi.1_Missense_Mutation_p.V968I|WDR19_uc003gtw.1_Missense_Mutation_p.V725I NM_025132 NP_079408 Q8NEZ3 WDR19_HUMAN WD repeat domain 19 1128 cell projection organization microtubule basal body|motile cilium|photoreceptor connecting cilium binding large_intestine(1) 1 TGCACACGATGTTCTCTTCAG 0.433 NA 6 36 0 0 0.001168 0 0 SLC4A4 8671 broad.mit.edu 37 4 72400105 72400105 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr4:72400105G>T uc003hfy.2 + 18 2559 c.2442G>T c.(2440-2442)AAG>AAT p.K814N SLC4A4_uc010iic.2_Missense_Mutation_p.K814N|SLC4A4_uc010iib.2_Missense_Mutation_p.K814N|SLC4A4_uc003hfz.2_Missense_Mutation_p.K814N|SLC4A4_uc003hgc.3_Missense_Mutation_p.K770N|SLC4A4_uc010iid.2_Missense_Mutation_p.K18N NM_001098484 NP_001091954 Q9Y6R1 S4A4_HUMAN solute carrier family 4, sodium bicarbonate 814 Cytoplasmic (Potential). KK->NN: Moderate reduction of the sodium- dependent ion transport activity. basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|kidney(1)|skin(1) 5 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) ATAAACTCAAGGTAAGTGTCC 0.378 NA 10 25 0.00829132 0.00988912 0.008291 1 0 PF4 5196 broad.mit.edu 37 4 74847209 74847209 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr4:74847209G>T uc003hhi.2 - 2 188 c.143C>A c.(142-144)TCC>TAC p.S48Y NM_002619 NP_002610 P02776 PLF4_HUMAN platelet factor 4 (chemokine (C-X-C motif) 48 cytokine-mediated signaling pathway|immune response|leukocyte chemotaxis|negative regulation of angiogenesis|negative regulation of apoptosis|negative regulation of cytolysis|negative regulation of megakaryocyte differentiation|negative regulation of MHC class II biosynthetic process|platelet activation|platelet degranulation|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of tumor necrosis factor production extracellular space|platelet alpha granule lumen chemokine activity|heparin binding 0 Breast(15;0.00136) all cancers(17;0.0034)|Lung(101;0.196) Drotrecogin alfa(DB00055) ACGGACCTGGGAGGTGGTCTT 0.602 NA 10 20 0.00621372 0.00744995 0.006214 1 0 ANKRD56 345079 broad.mit.edu 37 4 77816994 77816994 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr4:77816994C>A uc003hki.2 - 1 2009 c.2009G>T c.(2008-2010)GGA>GTA p.G670V NM_001029870 NP_001025041 A6NEL2 ANR56_HUMAN ankyrin repeat domain 56 670 ANK 2. 0 CGGGGTATATCCACAACTGGA 0.532 NA 30 172 9.65021e-13 1.63696e-12 0.002096 1 0 SLC10A6 345274 broad.mit.edu 37 4 87749282 87749282 + Missense_Mutation SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr4:87749282C>T uc003hqd.2 - 4 773 c.625G>A c.(625-627)GCA>ACA p.A209T NM_197965 NP_932069 Q3KNW5 SOAT_HUMAN sodium-dependent organic anion transporter 209 Helical; (Potential). integral to membrane|plasma membrane bile acid:sodium symporter activity 0 Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248) OV - Ovarian serous cystadenocarcinoma(123;0.00099) CCAGCAACTGCGACCACCAGA 0.453 NA 7 46 0 0 0.006214 0 0 ANK2 287 broad.mit.edu 37 4 114158246 114158246 + Missense_Mutation SNP T T A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr4:114158246T>A uc003ibe.3 + 6 687 c.587T>A c.(586-588)CTG>CAG p.L196Q ANK2_uc003ibd.3_Missense_Mutation_p.L175Q|ANK2_uc003ibf.3_Missense_Mutation_p.L196Q|ANK2_uc003ibc.2_Missense_Mutation_p.L172Q|ANK2_uc011cgb.1_Missense_Mutation_p.L211Q NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 196 ANK 6. 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) CTGCCAGCTCTGCATATTGCC 0.517 NA 80 81 0 0 0.00361 0 0 UGT8 7368 broad.mit.edu 37 4 115585282 115585282 + Silent SNP A A G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr4:115585282A>G uc003ibs.2 + 3 1476 c.954A>G c.(952-954)AAA>AAG p.K318K UGT8_uc003ibt.2_Silent_p.K318K|UGT8_uc011cge.1_RNA NM_001128174 NP_001121646 Q16880 CGT_HUMAN UDP-galactose-ceramide galactosyltransferase 8 318 central nervous system development|peripheral nervous system development integral to membrane 2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity ovary(1)|skin(1) 2 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000632) TGCCTCAAAAAGTGATTTGGA 0.418 NA 7 31 0 0 0.00308 0 0 PCDH18 54510 broad.mit.edu 37 4 138442189 138442189 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr4:138442189C>A uc003ihe.3 - 4 3789 c.3402G>T c.(3400-3402)CAG>CAT p.Q1134H PCDH18_uc003ihf.3_Missense_Mutation_p.Q1126H|PCDH18_uc011cgz.1_Missense_Mutation_p.Q345H|PCDH18_uc003ihg.3_Missense_Mutation_p.Q913H|PCDH18_uc011cha.1_Missense_Mutation_p.Q314H NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN protocadherin 18 precursor 1134 Interaction with DAB1 (By similarity).|Cytoplasmic (Potential). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding pancreas(3)|skin(2) 5 all_hematologic(180;0.24) TCTCCTAGCTCTGGCGGACAT 0.418 NA 16 44 2.32078e-09 3.55491e-09 0.003163 1 0 GPM6A 2823 broad.mit.edu 37 4 176594958 176594959 + Missense_Mutation DNP CC CC AG TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr4:176594958_176594959CC>AG uc003iuf.2 - 3 1063_1064 c.259_260GG>CT c.(259-261)GGC>CTC p.G87L GPM6A_uc011ckj.1_Missense_Mutation_p.G80L|GPM6A_uc003iug.2_Missense_Mutation_p.G87L|GPM6A_uc003iuh.2_Missense_Mutation_p.G76L NM_201591 NP_963885 P51674 GPM6A_HUMAN glycoprotein M6A isoform 2 87 Helical; (Potential). cell surface|integral to membrane 0 Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388) AGCTGCGATGCCGTAGATCACA 0.401 NA 6 14 0 0 0.004672 0 0 ODZ3 55714 broad.mit.edu 37 4 183713425 183713425 + Splice_Site SNP A A G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr4:183713425A>G uc003ivd.1 + 25 5639 c.5602_splice c.e25-2 p.S1868_splice NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) CTCTCTTTACAGTCCATGGTT 0.478 NA 12 29 0 0 0.000978 0 0 CDH12 1010 broad.mit.edu 37 5 21842393 21842393 + Nonsense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr5:21842393C>A uc010iuc.2 - 5 1149 c.691G>T c.(691-693)GAA>TAA p.E231* CDH12_uc011cno.1_Nonsense_Mutation_p.E191*|CDH12_uc003jgk.2_Nonsense_Mutation_p.E231* NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 231 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 TGATATTGTTCTTTGACTTCT 0.383 NA HNSCC(59;0.17) 27 40 2.65835e-16 4.81234e-16 0.007291 1 0 IL7R 3575 broad.mit.edu 37 5 35871289 35871289 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr5:35871289C>A uc003jjs.2 + 4 600 c.511C>A c.(511-513)CAG>AAG p.Q171K IL7R_uc011coo.1_Missense_Mutation_p.Q171K|IL7R_uc011cop.1_RNA NM_002185 NP_002176 P16871 IL7RA_HUMAN interleukin 7 receptor precursor 171 Extracellular (Potential).|Fibronectin type-III. 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) AGCTTACCGCCAGGAAAAGGA 0.348 NA 10 30 5.50884e-06 7.33444e-06 0.001368 1 0 MCC 4163 broad.mit.edu 37 5 112418664 112418664 + Missense_Mutation SNP C C G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr5:112418664C>G uc003kqj.3 - 9 1637 c.1107G>C c.(1105-1107)CAG>CAC p.Q369H MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Missense_Mutation_p.Q559H|MCC_uc011cwb.1_Missense_Mutation_p.Q369H|MCC_uc010jcd.1_Missense_Mutation_p.Q331H NM_002387 NP_002378 P23508 CRCM_HUMAN mutated in colorectal cancers isoform 2 369 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity ovary(1) 1 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) TGGAGCAGTCCTGAAGTGAGT 0.448 NA 19 29 0 0 0.008871 0 0 DMXL1 1657 broad.mit.edu 37 5 118440930 118440930 + Missense_Mutation SNP A A G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr5:118440930A>G uc003ksd.2 + 4 522 c.341A>G c.(340-342)CAC>CGC p.H114R DMXL1_uc010jcl.1_Missense_Mutation_p.H114R|DMXL1_uc003ksc.1_Missense_Mutation_p.H114R NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Dmx-like 1 114 WD 1. ovary(2) 2 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) TCAATAGCACACAATATAACC 0.308 NA 6 13 0 0 0.001984 0 0 SLC12A2 6558 broad.mit.edu 37 5 127488418 127488418 + Missense_Mutation SNP A A T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr5:127488418A>T uc003kus.2 + 15 2448 c.2284A>T c.(2284-2286)ACA>TCA p.T762S SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Missense_Mutation_p.T762S NM_001046 NP_001037 P55011 S12A2_HUMAN solute carrier family 12 762 Extracellular (Potential). potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity ovary(3) 3 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) GGGATCCTCTACACAAGCCCT 0.403 NA 13 67 0 0 0.00245 0 0 AFF4 27125 broad.mit.edu 37 5 132228047 132228047 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr5:132228047C>A uc003kyd.2 - 13 2854 c.2446G>T c.(2446-2448)GCT>TCT p.A816S AFF4_uc011cxk.1_Missense_Mutation_p.A494S|AFF4_uc003kye.1_Missense_Mutation_p.A816S NM_014423 NP_055238 Q9UHB7 AFF4_HUMAN ALL1 fused gene from 5q31 816 transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|kidney(2)|skin(1) 5 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ACAGGCCCAGCGGGAGAAGGC 0.448 Ovarian(126;889 1733 2942 10745 11605) NA 26 83 9.86323e-18 1.82889e-17 0.003954 1 0 PCDHA12 56137 broad.mit.edu 37 5 140255495 140255495 + Silent SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr5:140255495G>A uc003lic.2 + 1 565 c.438G>A c.(436-438)GCG>GCA p.A146A PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.A146A NM_018903 NP_061726 Q9UN75 PCDAC_HUMAN protocadherin alpha 12 isoform 1 precursor 146 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGAATCTGCGCCTCTGGACT 0.483 Pancreas(113;759 1672 13322 24104 50104) NA 24 71 0 0 0.00333 0 0 PCDHB16 57717 broad.mit.edu 37 5 140562299 140562299 + Silent SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr5:140562299G>A uc003liv.2 + 1 1320 c.165G>A c.(163-165)GGG>GGA p.G55G PCDHB16_uc010jfw.1_Intron NM_020957 NP_066008 Q9NRJ7 PCDBG_HUMAN protocadherin beta 16 precursor 55 Extracellular (Potential).|Cadherin 1. 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) TGGGGTTGGGGTTGACAGAGA 0.532 NA 42 47 0 0 0.00874 0 0 PCDHB12 56124 broad.mit.edu 37 5 140590379 140590379 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr5:140590379G>T uc003liz.2 + 1 2089 c.1900G>T c.(1900-1902)GAC>TAC p.D634Y PCDHB12_uc011dak.1_Missense_Mutation_p.D297Y NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN protocadherin beta 12 precursor 634 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAGCGAGCGCGACGCGGCCAA 0.697 NA 12 81 3.41278e-10 5.37132e-10 0.00499 1 0 PCYOX1L 78991 broad.mit.edu 37 5 148747747 148747747 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr5:148747747G>T uc003lqk.2 + 6 1077 c.1015G>T c.(1015-1017)GGC>TGC p.G339C PCYOX1L_uc003lql.2_Missense_Mutation_p.G322C|PCYOX1L_uc010jgz.2_Missense_Mutation_p.G263C|PCYOX1L_uc003lqm.2_Missense_Mutation_p.G221C|PCYOX1L_uc003lqn.2_Missense_Mutation_p.G249C NM_024028 NP_076933 Q8NBM8 PCYXL_HUMAN prenylcysteine oxidase 1 like precursor 339 prenylcysteine catabolic process extracellular region oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTGGTCCACGGCTACCTCAA 0.552 Ovarian(62;1136 1477 27277 27495) NA OREG0016912 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 43 125 1.22674e-20 2.35083e-20 0.00874 1 0 FAT2 2196 broad.mit.edu 37 5 150928985 150928985 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr5:150928985G>T uc003lue.3 - 8 4673 c.4660C>A c.(4660-4662)CGC>AGC p.R1554S GM2A_uc011dcs.1_Intron NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 1554 Extracellular (Potential).|Cadherin 13. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGAGTGAAGCGGGGTGGGTGG 0.572 NA 9 35 1.58986e-06 2.19325e-06 0.008291 1 0 FAT2 2196 broad.mit.edu 37 5 150947298 150947298 + Missense_Mutation SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr5:150947298G>A uc003lue.3 - 1 1208 c.1195C>T c.(1195-1197)CCA>TCA p.P399S GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.P399S NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 399 Extracellular (Potential).|Cadherin 3. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCTGAAGATGGCTTTAGAACA 0.498 NA 19 30 0 0 0.007413 0 0 ODZ2 57451 broad.mit.edu 37 5 167645193 167645193 + Nonsense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr5:167645193G>T uc010jjd.2 + 23 4270 c.4270G>T c.(4270-4272)GAG>TAG p.E1424* ODZ2_uc003lzr.3_Nonsense_Mutation_p.E1194*|ODZ2_uc003lzt.3_Nonsense_Mutation_p.E797*|ODZ2_uc010jje.2_Nonsense_Mutation_p.E688* 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) GTATGTTCTAGAGAACAATGT 0.493 NA 21 96 7.41877e-09 1.1177e-08 0.001882 1 0 ZNF346 23567 broad.mit.edu 37 5 176471400 176471400 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr5:176471400G>T uc003mfi.2 + 4 426 c.383G>T c.(382-384)AGA>ATA p.R128I ZNF346_uc011dfr.1_Missense_Mutation_p.R96I|ZNF346_uc011dfs.1_Intron|ZNF346_uc003mfj.2_Intron|ZNF346_uc003mfk.1_Missense_Mutation_p.R153I|ZNF346_uc011dft.1_Intron NM_012279 NP_036411 Q9UL40 ZN346_HUMAN zinc finger protein 346 128 cytoplasm|nucleolus double-stranded RNA binding|zinc ion binding 0 all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AAGAGCAGCAGAAGCAAAGAC 0.388 NA 21 40 2.37509e-13 4.07413e-13 0.001523 1 0 HDGFL1 154150 broad.mit.edu 37 6 22569783 22569783 + Translation_Start_Site SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr6:22569783G>T uc003nds.2 + 1 106 c.-21G>T c.(-23--19)CAGGC>CATGC NM_138574 NP_612641 Q5TGJ6 HDGL1_HUMAN hepatoma derived growth factor-like 1 0 Ovarian(93;0.163) GTGTGGCCCAGGCGGGGTCCG 0.657 NA 13 23 7.93312e-07 1.11453e-06 0.00245 1 0 MRPS18B 28973 broad.mit.edu 37 6 30593483 30593483 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr6:30593483G>T uc003nqo.2 + 7 843 c.686G>T c.(685-687)GGC>GTC p.G229V MRPS18B_uc011dml.1_3'UTR|MRPS18B_uc010jsd.1_Missense_Mutation_p.G186V|C6orf134_uc003nqr.3_5'Flank|C6orf134_uc003rdc.2_5'Flank|C6orf134_uc003nqs.3_5'Flank|C6orf134_uc003rdd.2_5'Flank|C6orf134_uc003nqu.2_5'Flank|C6orf134_uc003nqt.2_5'Flank|C6orf134_uc011dmm.1_5'Flank|C6orf134_uc003nqv.2_5'Flank NM_014046 NP_054765 Q9Y676 RT18B_HUMAN mitochondrial ribosomal protein S18B precursor 229 translation mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome ovary(1) 1 GAAGAGAGTGGCCCCCCACCT 0.597 NA 9 121 7.48243e-07 1.05445e-06 0.006214 1 0 TNF 7124 broad.mit.edu 37 6 31545256 31545256 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr6:31545256C>A uc003nui.2 + 4 813 c.644C>A c.(643-645)CCC>CAC p.P215H TNF_uc003nuj.2_Missense_Mutation_p.P67T NM_000594 NP_000585 P01375 TNFA_HUMAN tumor necrosis factor alpha 215 Extracellular (Potential). activation of caspase activity|activation of MAPK activity|activation of MAPKKK activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of membrane protein ectodomain proteolysis|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding ovary(1)|pancreas(1)|skin(1) 3 Ovarian(999;0.00556) Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041) ATCAATCGGCCCGACTATCTC 0.602 NA Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of 16 28 1.45105e-14 2.54629e-14 0.006122 1 0 PKHD1 5314 broad.mit.edu 37 6 51935228 51935228 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr6:51935228C>A uc003pah.1 - 10 959 c.683G>T c.(682-684)AGC>ATC p.S228I PKHD1_uc003pai.2_Missense_Mutation_p.S228I NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 228 IPT/TIG 2.|Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) TACTGAGAAGCTAACATTCTG 0.388 NA 12 15 4.3838e-07 6.25477e-07 0.001855 1 0 BMP5 653 broad.mit.edu 37 6 55623883 55623883 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr6:55623883C>A uc003pcq.2 - 6 1847 c.1135G>T c.(1135-1137)GCA>TCA p.A379S BMP5_uc011dxf.1_Intron NM_021073 NP_066551 P22003 BMP5_HUMAN bone morphogenetic protein 5 preproprotein 379 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity ovary(2) 2 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) CAATAAAATGCAGCGTATCCT 0.284 NA 18 36 0.00498961 0.00599801 0.00499 1 0 PRIM2 5558 broad.mit.edu 37 6 57512605 57512605 + Missense_Mutation SNP A A G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr6:57512605A>G uc003pdx.2 + 15 1520 c.1433A>G c.(1432-1434)CAG>CGG p.Q478R NM_000947 NP_000938 P49643 PRI2_HUMAN DNA primase polypeptide 2 478 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding 0 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) CCAAGTGTCCAGAAAACCAAG 0.398 NA 38 362 0 0 0.00623 0 0 EYS 346007 broad.mit.edu 37 6 66112430 66112430 + Missense_Mutation SNP C C G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr6:66112430C>G uc011dxu.1 - 7 1663 c.1125G>C c.(1123-1125)GAG>GAC p.E375D EYS_uc003peq.2_Missense_Mutation_p.E375D|EYS_uc003per.1_Missense_Mutation_p.E375D NM_001142800 NP_001136272 Q5T1H1 EYS_HUMAN eyes shut homolog isoform 1 375 EGF-like 5. response to stimulus|visual perception extracellular region calcium ion binding lung(4)|ovary(1)|skin(1) 6 AAGGAAATGACTCACATGATG 0.284 NA 11 20 0 0 0.000978 0 0 KCNQ5 56479 broad.mit.edu 37 6 73904664 73904664 + Missense_Mutation SNP A A T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr6:73904664A>T uc003pgk.2 + 14 2673 c.2326A>T c.(2326-2328)AGC>TGC p.S776C KCNQ5_uc011dyh.1_Missense_Mutation_p.S795C|KCNQ5_uc011dyi.1_Missense_Mutation_p.S786C|KCNQ5_uc010kat.2_Missense_Mutation_p.S767C|KCNQ5_uc011dyj.1_Missense_Mutation_p.S666C|KCNQ5_uc011dyk.1_Missense_Mutation_p.S526C NM_019842 NP_062816 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like 776 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(4)|large_intestine(2)|skin(1) 7 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) CTTACAGGAAAGCATTTCTGA 0.512 GBM(142;1375 1859 14391 23261 44706) NA 11 45 0 0 0.008291 0 0 FBXL4 26235 broad.mit.edu 37 6 99374671 99374673 + Missense_Mutation TNP TAA TAA ATG TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 TAA TAA - - TAA TAA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr6:99374671_99374673TAA>ATG uc003ppf.1 - 3 550_552 c.192_194TTA>CAT c.(190-195)CATTAT>CACATT p.Y65I FBXL4_uc003ppg.1_Missense_Mutation_p.Y65I|FBXL4_uc003pph.1_5'UTR NM_012160 NP_036292 Q9UKA2 FBXL4_HUMAN F-box and leucine-rich repeat protein 4 65 ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex skin(2) 2 all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197) BRCA - Breast invasive adenocarcinoma(108;0.0413) CTCACTTCCATAATGGGAACTGA 0.424 NA 15 71 0 0 0.004672 0 0 PTPRK 5796 broad.mit.edu 37 6 128403661 128403661 + Silent SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr6:128403661C>A uc003qbk.2 - 10 2065 c.1698G>T c.(1696-1698)ACG>ACT p.T566T PTPRK_uc003qbj.2_Silent_p.T566T|PTPRK_uc010kfc.2_Silent_p.T566T|PTPRK_uc011ebu.1_Silent_p.T566T|PTPRK_uc003qbl.1_Silent_p.T436T|PTPRK_uc011ebv.1_Silent_p.T566T NM_002844 NP_002835 Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 566 Extracellular (Potential).|Fibronectin type-III 3. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1) 8 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) AAAACTGGTACGTGGTTCCAG 0.458 NA 24 40 6.32553e-13 1.07699e-12 0.004656 1 0 SYNE1 23345 broad.mit.edu 37 6 152469466 152469466 + Silent SNP T T C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr6:152469466T>C uc010kiw.2 - 137 25292 c.24690A>G c.(24688-24690)GAA>GAG p.E8230E SYNE1_uc010kiv.2_Silent_p.E2754E|SYNE1_uc003qos.3_Silent_p.E2754E|SYNE1_uc003qot.3_Silent_p.E8159E|SYNE1_uc003qou.3_Silent_p.E8230E|SYNE1_uc003qop.3_Silent_p.E392E|SYNE1_uc011eez.1_Silent_p.E432E|SYNE1_uc003qoq.3_Silent_p.E432E|SYNE1_uc003qor.3_Silent_p.E1130E NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 8230 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTGCAGAGTCTTCCAGCTCCA 0.582 NA HNSCC(10;0.0054) 13 20 0 0 0.001855 0 0 TULP4 56995 broad.mit.edu 37 6 158902193 158902193 + Missense_Mutation SNP T T C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr6:158902193T>C uc003qrf.2 + 8 2715 c.1358T>C c.(1357-1359)GTG>GCG p.V453A TULP4_uc011efo.1_Missense_Mutation_p.V453A|TULP4_uc003qrg.2_Missense_Mutation_p.V453A NM_020245 NP_064630 Q9NRJ4 TULP4_HUMAN tubby like protein 4 isoform 1 453 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) GACCCGGAGGTGGGCGGCCCG 0.617 NA 11 56 0 0 0.008291 0 0 LPA 4018 broad.mit.edu 37 6 160953593 160953593 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr6:160953593C>A uc003qtl.2 - 39 6051 c.5931G>T c.(5929-5931)GAG>GAT p.E1977D NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 4485 Peptidase S1. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity ovary(3)|skin(2)|pancreas(1) 6 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) TGGCCAAATGCTCAGCACAAA 0.453 NA 15 32 1.05317e-09 1.64065e-09 0.00245 1 0 PARK2 5071 broad.mit.edu 37 6 162683557 162683557 + Missense_Mutation SNP C C G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr6:162683557C>G uc003qtx.3 - 3 546 c.412G>C c.(412-414)GCA>CCA p.A138P PARK2_uc003qtv.3_RNA|PARK2_uc010kkd.2_Intron|PARK2_uc003qtw.3_5'UTR|PARK2_uc003qty.3_Missense_Mutation_p.A138P|PARK2_uc003qtz.3_Intron|PARK2_uc010kke.1_Missense_Mutation_p.A138P NM_004562 NP_004553 O60260 PRKN2_HUMAN parkin isoform 1 138 aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding upper_aerodigestive_tract(1) 1 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) TTCCAATTACCTGGACTTCCA 0.488 NA 10 47 0 0 0.008291 0 0 MLLT4 4301 broad.mit.edu 37 6 168276054 168276054 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr6:168276054G>T uc003qwd.2 + 5 757 c.615G>T c.(613-615)ATG>ATT p.M205I MLLT4_uc003qwb.1_Missense_Mutation_p.M205I|MLLT4_uc003qwc.1_Missense_Mutation_p.M206I NM_001040001 NP_001035090 P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia 206 adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding ovary(2)|lung(1)|kidney(1)|central_nervous_system(1) 5 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) ACAAAGACATGCCGGAAACCA 0.373 NA T MLL AL 44 123 1.47857e-17 2.71962e-17 0.00361 1 0 HEATR2 54919 broad.mit.edu 37 7 780463 780463 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr7:780463G>T uc010krz.1 + 3 808 c.788G>T c.(787-789)CGG>CTG p.R263L HEATR2_uc003siz.2_Missense_Mutation_p.R131L NM_017802 NP_060272 Q86Y56 HEAT2_HUMAN HEAT repeat containing 2 263 HEAT 3. protein binding skin(1) 1 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14) CAGGTCCGGCGGGCGGTGGCC 0.637 NA 55 163 6.52717e-41 1.32276e-40 0.00361 1 0 HOXA10 3206 broad.mit.edu 37 7 27213842 27213842 + Silent SNP A A G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr7:27213842A>G uc011jzm.1 - 1 114 c.84T>C c.(82-84)TCT>TCC p.S28S HOXA10_uc003syw.3_Intron NM_018951 NP_061824 P31260 HXA10_HUMAN homeobox A10 isoform a 28 spermatogenesis protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CGACCAAAAAAGAGTTCGCGG 0.438 NA 11 30 0 0 0.00499 0 0 GPR141 353345 broad.mit.edu 37 7 37780251 37780252 + Missense_Mutation DNP CC CC AA TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr7:37780251_37780252CC>AA uc003tfm.1 + 1 256_257 c.256_257CC>AA c.(256-258)CCC>AAC p.P86N uc003tfl.2_Intron NM_181791 NP_861456 Q7Z602 GP141_HUMAN G protein-coupled receptor 141 86 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 GTTTGGGCTGCCCTTCTGCAAA 0.485 NA 19 37 0 0 0.004672 0 0 FAM183B 340286 broad.mit.edu 37 7 38725631 38725631 + Silent SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr7:38725631G>T uc011kbd.1 - 2 962 c.666C>A c.(664-666)CCC>CCA p.P222P NR_028347 Homo sapiens cDNA FLJ42138 fis, clone TESTI2036684. 0 CCGTGGGTCCGGGGCTCTCTC 0.622 NA 10 35 1.08611e-07 1.59948e-07 0.000978 1 0 AEBP1 165 broad.mit.edu 37 7 44146278 44146278 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr7:44146278G>T uc003tkb.2 + 2 692 c.387G>T c.(385-387)AAG>AAT p.K129N NM_001129 NP_001120 Q8IUX7 AEBP1_HUMAN adipocyte enhancer binding protein 1 precursor 129 Pro-rich. cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 AGGCCACCAAGAAGCCCAAGG 0.602 NA 15 23 1.3612e-06 1.89493e-06 0.003163 1 0 ZNF713 349075 broad.mit.edu 37 7 55990971 55990971 + Silent SNP A A C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr7:55990971A>C uc003trc.1 + 2 203 c.165A>C c.(163-165)CTA>CTC p.L55L ZNF713_uc003tra.1_Silent_p.L68L|MRPS17_uc003trb.2_Silent_p.L55L NM_182633 NP_872439 Q8N859 ZN713_HUMAN zinc finger protein 713 55 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.L55I(1) ovary(2) 2 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) ACAGGAATCTAGTTGCACTGG 0.502 NA 15 74 0 0 0.00499 0 0 AUTS2 26053 broad.mit.edu 37 7 69583191 69583191 + Missense_Mutation SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr7:69583191G>A uc003tvw.3 + 3 1339 c.596G>A c.(595-597)CGG>CAG p.R199Q AUTS2_uc003tvv.3_Missense_Mutation_p.R199Q|AUTS2_uc003tvx.3_Missense_Mutation_p.R199Q NM_015570 NP_056385 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 isoform 1 199 ovary(2)|central_nervous_system(1) 3 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) GGCTTCCACCGGAGCAGCTCT 0.428 NA 3 30 0 0 0.000248 0 0 DBF4 10926 broad.mit.edu 37 7 87533696 87533696 + Silent SNP T T C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr7:87533696T>C uc003ujf.1 + 11 1518 c.1014T>C c.(1012-1014)TTT>TTC p.F338F DBF4_uc003ujh.1_Silent_p.F78F|DBF4_uc003ujg.1_Silent_p.F114F|DBF4_uc011khf.1_Silent_p.F105F NM_006716 NP_006707 Q9UBU7 DBF4A_HUMAN activator of S phase kinase 338 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding lung(2) 2 Esophageal squamous(14;0.00202) Breast(660;0.0334) TTTTTGACTTTGTGGAATATG 0.279 NA 7 23 0 0 0.001984 0 0 SLC12A9 56996 broad.mit.edu 37 7 100452363 100452363 + Silent SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr7:100452363G>T uc003uwp.2 + 3 445 c.303G>T c.(301-303)GGG>GGT p.G101G SLC12A9_uc003uwo.1_Intron|SLC12A9_uc003uwq.2_Intron|SLC12A9_uc011kki.1_Intron|SLC12A9_uc003uwr.2_5'Flank|SLC12A9_uc003uws.2_5'Flank|SLC12A9_uc003uwt.2_5'Flank NM_020246 NP_064631 Q9BXP2 S12A9_HUMAN solute carrier family 12 (potassium/chloride 101 Cytoplasmic (Potential). integral to membrane|plasma membrane cation:chloride symporter activity 0 Lung NSC(181;0.041)|all_lung(186;0.0581) CCGTGCAGGGGGGCGGAGCCT 0.612 NA 24 41 6.12954e-19 1.14585e-18 0.004656 1 0 MUC17 140453 broad.mit.edu 37 7 100679543 100679543 + Missense_Mutation SNP G G A rs150842387 TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr7:100679543G>A uc003uxp.1 + 3 4899 c.4846G>A c.(4846-4848)GCT>ACT p.A1616T MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 1616 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|25. 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) ATCTACAACCGCTGAAGGTAG 0.502 NA 14 255 0 0 0.00245 0 0 MYL10 93408 broad.mit.edu 37 7 101266322 101266322 + Missense_Mutation SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr7:101266322C>T uc003uyr.2 - 4 482 c.304G>A c.(304-306)GGC>AGC p.G102S NM_138403 NP_612412 Q9BUA6 MYL10_HUMAN myosin, light chain 10, regulatory 102 EF-hand 1.|1 (Potential). mitochondrion calcium ion binding ovary(1)|breast(1) 2 TCGATGAAGCCATCACGGTTC 0.627 Esophageal Squamous(24;575 709 17516 40384 51639) NA 12 18 0 0 0.00245 0 0 LAMB1 3912 broad.mit.edu 37 7 107638920 107638920 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr7:107638920G>T uc003vew.2 - 4 566 c.231C>A c.(229-231)TTC>TTA p.F77L LAMB1_uc003vev.2_Missense_Mutation_p.F101L|LAMB1_uc003vex.2_Missense_Mutation_p.F77L|LAMB1_uc010ljn.1_Missense_Mutation_p.F163L NM_002291 NP_002282 P07942 LAMB1_HUMAN laminin, beta 1 precursor 77 Laminin N-terminal. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 8 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AATTGCATATGAAGCATTTTT 0.363 NA 8 37 1.58986e-06 2.19325e-06 0.008291 1 0 CHRM2 1129 broad.mit.edu 37 7 136699633 136699633 + Silent SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr7:136699633C>A uc003vtf.1 + 4 644 c.21C>A c.(19-21)TCC>TCA p.S7S CHRM2_uc003vtg.1_Silent_p.S7S|CHRM2_uc003vtj.1_Silent_p.S7S|CHRM2_uc003vtk.1_Silent_p.S7S|CHRM2_uc003vtl.1_Silent_p.S7S|CHRM2_uc003vtm.1_Silent_p.S7S|CHRM2_uc003vti.1_Silent_p.S7S|CHRM2_uc003vto.1_Silent_p.S7S|CHRM2_uc003vtn.1_Silent_p.S7S|uc003vtp.1_Intron NM_001006630 NP_001006631 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 7 Extracellular (By similarity). activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding ovary(4)|central_nervous_system(1) 5 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) CAACAAACTCCTCTAACAATA 0.368 NA 17 28 3.32936e-07 4.76515e-07 0.006122 1 0 AMAC1L2 83650 broad.mit.edu 37 8 11189615 11189615 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr8:11189615G>T uc003wtp.1 + 1 1121 c.1000G>T c.(1000-1002)GGG>TGG p.G334W NM_054028 NP_473369 Q96KT7 AMCL2_HUMAN acyl-malonyl condensing enzyme 334 integral to membrane 0 STAD - Stomach adenocarcinoma(15;0.00676) COAD - Colon adenocarcinoma(149;0.0563) TGAGAGGACAGGGAAGGTGGA 0.468 NA 27 43 2.44723e-14 4.26172e-14 0.004656 1 0 SNTG1 54212 broad.mit.edu 37 8 51363114 51363114 + Splice_Site SNP A A T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr8:51363114A>T uc010lxy.1 + 8 649 c.278_splice c.e8-2 p.A93_splice SNTG1_uc003xqs.1_Splice_Site_p.A93_splice|SNTG1_uc010lxz.1_Splice_Site_p.A93_splice|SNTG1_uc011ldl.1_Splice_Site NM_018967 NP_061840 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding ovary(5) 5 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) TTTCATTCACAGCGGAACTTT 0.259 NA 45 39 0 0 0.00361 0 0 XKR9 389668 broad.mit.edu 37 8 71646419 71646419 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr8:71646419G>T uc003xyq.2 + 5 1416 c.882G>T c.(880-882)AGG>AGT p.R294S XKR9_uc010lze.2_Missense_Mutation_p.R294S|XKR9_uc010lzd.2_Missense_Mutation_p.R162S NM_001011720 NP_001011720 Q5GH70 XKR9_HUMAN XK, Kell blood group complex subunit-related 294 integral to membrane ovary(1)|skin(1) 2 Breast(64;0.0716) Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166) ATATTGTTAGGGTACTGGGCA 0.323 NA 9 43 0.000442599 0.000561525 0.006214 1 0 TRPA1 8989 broad.mit.edu 37 8 72984028 72984028 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr8:72984028C>A uc003xza.2 - 2 361 c.186G>T c.(184-186)ATG>ATT p.M62I NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 62 Cytoplasmic (Potential).|ANK 1. integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) AGAAGGTGTCCATATCGTCAC 0.348 NA 40 36 9.8876e-21 1.90274e-20 0.004878 1 0 ZFHX4 79776 broad.mit.edu 37 8 77764905 77764905 + Silent SNP T T C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr8:77764905T>C uc003yav.2 + 10 6000 c.5613T>C c.(5611-5613)TTT>TTC p.F1871F ZFHX4_uc003yau.1_Silent_p.F1916F|ZFHX4_uc003yaw.1_Silent_p.F1871F NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1871 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) TGGAAAACTTTGGTTTTGAAC 0.443 NA HNSCC(33;0.089) 14 41 0 0 0.001855 0 0 MMP16 4325 broad.mit.edu 37 8 89198727 89198727 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr8:89198727G>T uc003yeb.3 - 3 664 c.382C>A c.(382-384)CAG>AAG p.Q128K MMP16_uc003yec.2_Missense_Mutation_p.Q128K NM_005941 NP_005932 P51512 MMP16_HUMAN matrix metalloproteinase 16 isoform 1 128 Extracellular (Potential). collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1) 8 TGCTTGTGCTGCCATTTCTGT 0.418 NA 39 200 4.92203e-23 9.55207e-23 0.00623 1 0 VPS13B 157680 broad.mit.edu 37 8 100866131 100866131 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr8:100866131G>T uc003yiv.2 + 56 10700 c.10589G>T c.(10588-10590)CGG>CTG p.R3530L VPS13B_uc003yiw.2_Missense_Mutation_p.R3505L NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 3530 protein transport p.R3530W(1) ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) AAACCTGCTCGGTTATACGTG 0.408 Colon(161;2205 2542 7338 31318) NA 32 115 2.85442e-18 5.31432e-18 0.002096 1 0 UBR5 51366 broad.mit.edu 37 8 103309166 103309166 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr8:103309166C>A uc003ykr.1 - 28 3653 c.3620G>T c.(3619-3621)TGT>TTT p.C1207F UBR5_uc003yks.1_Missense_Mutation_p.C1207F NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 1207 UBR-type. cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 28 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TTCCGTACAACAACACAGTGA 0.313 Ovarian(131;96 1741 5634 7352 27489) NA 23 16 1.7881e-09 2.76672e-09 0.008361 1 0 CSMD3 114788 broad.mit.edu 37 8 113697849 113697849 + Silent SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr8:113697849C>A uc003ynu.2 - 15 2427 c.2268G>T c.(2266-2268)GGG>GGT p.G756G CSMD3_uc003yns.2_Silent_p.G28G|CSMD3_uc003ynt.2_Silent_p.G716G|CSMD3_uc011lhx.1_Silent_p.G652G NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 756 Extracellular (Potential).|CUB 4. 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 GTATCCGGCTCCCTGGATCAG 0.413 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 73 48 2.10938e-32 4.20042e-32 0.00361 1 0 TRPS1 7227 broad.mit.edu 37 8 116631944 116631944 + Silent SNP T T C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr8:116631944T>C uc003ynz.2 - 2 801 c.342A>G c.(340-342)TCA>TCG p.S114S TRPS1_uc011lhy.1_Silent_p.S118S|TRPS1_uc003yny.2_Silent_p.S127S|TRPS1_uc010mcy.2_Silent_p.S114S NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 114 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) CAGCTGGAGATGAGAAAGCCA 0.532 NA Langer-Giedion_syndrome 17 84 0 0 0.00499 0 0 SLC30A8 169026 broad.mit.edu 37 8 118165318 118165318 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr8:118165318G>T uc003yoh.2 + 3 637 c.407G>T c.(406-408)TGG>TTG p.W136L SLC30A8_uc010mcz.2_Missense_Mutation_p.W87L|SLC30A8_uc011lia.1_Missense_Mutation_p.W87L|SLC30A8_uc003yog.2_Missense_Mutation_p.W87L NM_173851 NP_776250 Q8IWU4 ZNT8_HUMAN solute carrier family 30 member 8 136 Cytoplasmic (Potential). insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity ovary(2)|skin(2) 4 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) ACATTTGGATGGCACCGAGCA 0.512 Ovarian(162;1202 1922 6011 16223 52092) NA 4 34 2.56e-06 3.47917e-06 0.000248 1 0 FER1L6 654463 broad.mit.edu 37 8 125115475 125115475 + Missense_Mutation SNP G G C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr8:125115475G>C uc003yqw.2 + 39 5420 c.5214G>C c.(5212-5214)GAG>GAC p.E1738D uc003yqy.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 1738 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) ATGCAAGTGAGGAGACCAAGA 0.473 NA 133 110 0 0 0.00361 0 0 ADCY8 114 broad.mit.edu 37 8 131922105 131922105 + Missense_Mutation SNP G G C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr8:131922105G>C uc003ytd.3 - 6 1745 c.1489C>G c.(1489-1491)CGG>GGG p.R497G ADCY8_uc010mds.2_Missense_Mutation_p.R497G NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 497 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) GTCCTTGACCGCACATACCTG 0.428 NA HNSCC(32;0.087) 65 40 0 0 0.00361 0 0 TRAPPC9 83696 broad.mit.edu 37 8 140743352 140743352 + Missense_Mutation SNP C C G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr8:140743352C>G uc003yvj.2 - 23 3533 c.3399G>C c.(3397-3399)TGG>TGC p.W1133C TRAPPC9_uc003yvh.2_Missense_Mutation_p.W1231C NM_001160372 NP_001153844 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 isoform 1133 cell differentiation endoplasmic reticulum|Golgi apparatus skin(2) 2 GCAGGCAGAACCAAGAGGGTG 0.657 NA 12 48 0 0 0.001855 0 0 GSDMD 79792 broad.mit.edu 37 8 144642896 144642896 + Silent SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr8:144642896G>A uc010mfe.2 + 7 1237 c.534G>A c.(532-534)CGG>CGA p.R178R uc003yye.2_5'Flank|GSDMD_uc003yyf.2_Silent_p.R226R|GSDMD_uc003yyi.2_Silent_p.R389R|GSDMD_uc003yyg.2_Silent_p.R178R|GSDMD_uc003yyh.2_Silent_p.R109R NM_024736 NP_079012 P57764 GSDMD_HUMAN gasdermin D 178 0 CCCACAAGCGGGAGGGCTCGG 0.697 NA 3 13 0 0 0.004672 0 0 EPPK1 83481 broad.mit.edu 37 8 144940342 144940342 + Missense_Mutation SNP G G C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr8:144940342G>C uc003zaa.1 - 2 15103 c.15090C>G c.(15088-15090)GAC>GAG p.D5030E NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 5030 Plectin 64. cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GGTAGGCCACGTCCACGGGCA 0.692 NA 11 599 0 0 0.006122 0 0 FRMPD1 22844 broad.mit.edu 37 9 37746517 37746517 + Missense_Mutation SNP C C G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr9:37746517C>G uc004aag.1 + 16 4532 c.4488C>G c.(4486-4488)CAC>CAG p.H1496Q FRMPD1_uc004aah.1_Missense_Mutation_p.H1496Q NM_014907 NP_055722 Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 1496 cytoskeleton|cytosol|plasma membrane ovary(4)|central_nervous_system(2)|skin(2)|breast(1) 9 GBM - Glioblastoma multiforme(29;0.00655) CCTTCCAGCACCTGGTCCAGC 0.637 NA 12 32 0 0 0.001368 0 0 OR13C9 286362 broad.mit.edu 37 9 107379838 107379838 + Silent SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr9:107379838G>T uc011lvr.1 - 1 648 c.648C>A c.(646-648)ATC>ATA p.I216I NM_001001956 NP_001001956 Q8NGT0 O13C9_HUMAN olfactory receptor, family 13, subfamily C, 216 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ATGAGTAAGAGATAACTATCA 0.453 NA 6 31 5.9392e-07 8.44768e-07 0.001168 1 0 IKBKAP 8518 broad.mit.edu 37 9 111659270 111659270 + Silent SNP T T C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr9:111659270T>C uc004bdm.3 - 24 3070 c.2550A>G c.(2548-2550)GAA>GAG p.E850E IKBKAP_uc004bdl.2_Silent_p.E501E|IKBKAP_uc011lwc.1_Silent_p.E736E|IKBKAP_uc010mtq.2_Silent_p.E501E NM_003640 NP_003631 O95163 ELP1_HUMAN inhibitor of kappa light polypeptide gene 850 immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding|signal transducer activity ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1) 7 CAATTTCCAGTTCTGGGGTTG 0.443 NA 17 34 0 0 0.008871 0 0 ARSH 347527 broad.mit.edu 37 X 2936618 2936618 + Missense_Mutation SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chrX:2936618G>A uc011mhj.1 + 5 808 c.808G>A c.(808-810)GTA>ATA p.V270I NM_001011719 NP_001011719 Q5FYA8 ARSH_HUMAN arylsulfatase family, member H 270 integral to membrane arylsulfatase activity|metal ion binding lung(1) 1 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) CTTCCTGCACGTACATACTCC 0.398 NA 29 41 0 0 0.001786 0 0 KAL1 3730 broad.mit.edu 37 X 8507735 8507735 + Silent SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chrX:8507735G>A uc004csf.2 - 10 1569 c.1419C>T c.(1417-1419)ACC>ACT p.T473T NM_000216 NP_000207 P23352 KALM_HUMAN Kallmann syndrome 1 protein precursor 473 Fibronectin type-III 3. axon guidance|cell adhesion|cellular component movement extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity ovary(3)|pancreas(1) 4 CCTCTGATCCGGTTGTTCTGT 0.453 NA 6 56 0 0 0.001168 0 0 PRPS2 5634 broad.mit.edu 37 X 12838875 12838875 + Missense_Mutation SNP A A G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chrX:12838875A>G uc004cvb.2 + 6 941 c.817A>G c.(817-819)AAC>GAC p.N273D PRPS2_uc004cva.2_Missense_Mutation_p.N276D|PRPS2_uc010nec.2_Missense_Mutation_p.N151D NM_002765 NP_002756 P11908 PRPS2_HUMAN phosphoribosyl pyrophosphate synthetase 2 273 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity 0 TGTCGTCACAAACACAATTCC 0.468 NA 29 41 0 0 0.008361 0 0 ARX 170302 broad.mit.edu 37 X 25031161 25031161 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chrX:25031161G>T uc004dbp.3 - 2 1162 c.951C>A c.(949-951)AGC>AGA p.S317R NM_139058 NP_620689 Q96QS3 ARX_HUMAN aristaless related homeobox 317 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CCTCCGAGTCGCTGCCCGCAG 0.662 NA 7 11 0.000157383 0.000203047 0.00308 1 0 MAGEB10 139422 broad.mit.edu 37 X 27840205 27840205 + Missense_Mutation SNP A A T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chrX:27840205A>T uc004dbw.2 + 3 1009 c.782A>T c.(781-783)CAG>CTG p.Q261L NM_182506 NP_872312 Q96LZ2 MAGBA_HUMAN melanoma antigen family B, 10 261 MAGE. lung(1)|breast(1)|central_nervous_system(1) 3 CTGGAGTACCAGCAAGTGCCC 0.473 NA 6 47 0 0 0.001168 0 0 DMD 1756 broad.mit.edu 37 X 32536160 32536160 + Nonsense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chrX:32536160C>A uc004dda.1 - 18 2501 c.2257G>T c.(2257-2259)GAA>TAA p.E753* DMD_uc004dcz.2_Nonsense_Mutation_p.E630*|DMD_uc004dcy.1_Nonsense_Mutation_p.E749*|DMD_uc004ddb.1_Nonsense_Mutation_p.E745*|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Nonsense_Mutation_p.E745* NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 753 Spectrin 4. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) AAGTTGCCTTCCTTCCGAAAG 0.383 NA 6 25 0.00116845 0.00144635 0.001168 1 0 ARAF 369 broad.mit.edu 37 X 47426120 47426120 + Missense_Mutation SNP T T A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chrX:47426120T>A uc011mlq.1 + 7 773 c.640T>A c.(640-642)TCC>ACC p.S214T ARAF_uc011mln.1_Intron|ARAF_uc011mlo.1_Missense_Mutation_p.S80T|ARAF_uc011mlp.1_Missense_Mutation_p.S214T|ARAF_uc004dic.1_5'UTR NM_001654 NP_001645 P10398 ARAF_HUMAN v-raf murine sarcoma 3611 viral oncogene 214 intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity large_intestine(3)|lung(2)|ovary(1)|skin(1) 7 Adenosine triphosphate(DB00171) CCGCTCCACGTCCACTCCCAA 0.662 NA 3 20 0 0 0.004672 0 0 LAS1L 81887 broad.mit.edu 37 X 64744855 64744855 + Silent SNP T T A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chrX:64744855T>A uc004dwa.1 - 8 1104 c.1032A>T c.(1030-1032)ATA>ATT p.I344I LAS1L_uc004dwc.1_Silent_p.I344I|LAS1L_uc004dwd.1_Silent_p.I302I NM_031206 NP_112483 Q9Y4W2 LAS1L_HUMAN LAS1-like 344 MLL1 complex|nucleolus protein binding ovary(3)|large_intestine(1) 4 CTTCATATTCTATCTGCAAAG 0.547 NA 6 21 0 0 0.001984 0 0 STARD8 9754 broad.mit.edu 37 X 67939098 67939098 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chrX:67939098C>A uc004dxa.2 + 6 1879 c.1507C>A c.(1507-1509)CAT>AAT p.H503N STARD8_uc004dxb.2_Missense_Mutation_p.H583N|STARD8_uc004dxc.3_Missense_Mutation_p.H503N NM_014725 NP_055540 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain 503 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity breast(3)|ovary(2)|pancreas(1) 6 CCAGAACTCCCATCGTCCCAG 0.587 NA 16 31 1.56452e-12 2.60564e-12 0.007413 1 0 RLIM 51132 broad.mit.edu 37 X 73811943 73811943 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chrX:73811943G>T uc004ebu.2 - 5 1497 c.1207C>A c.(1207-1209)CAG>AAG p.Q403K RLIM_uc004ebw.2_Missense_Mutation_p.Q403K NM_183353 NP_899196 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 403 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 AACATGGTCTGAATTGCAACA 0.413 Esophageal Squamous(169;1899 1923 14997 18818 32118) NA 13 74 2.27111e-07 3.28129e-07 0.001368 1 0 ATRX 546 broad.mit.edu 37 X 76938620 76938620 + Missense_Mutation SNP T T C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chrX:76938620T>C uc004ecp.3 - 9 2360 c.2128A>G c.(2128-2130)AAT>GAT p.N710D ATRX_uc004ecq.3_Missense_Mutation_p.N672D|ATRX_uc004eco.3_Missense_Mutation_p.N495D|ATRX_uc004ecr.2_Missense_Mutation_p.N642D|ATRX_uc010nlx.1_Missense_Mutation_p.N681D|ATRX_uc010nly.1_Missense_Mutation_p.N655D NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 710 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) GGCTTAGGATTATCTATAGCA 0.353 NA Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome 9 242 0 0 0.006214 0 0 ZCCHC5 203430 broad.mit.edu 37 X 77913735 77913735 + Silent SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chrX:77913735G>T uc004edc.1 - 2 479 c.183C>A c.(181-183)CCC>CCA p.P61P NM_152694 NP_689907 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 61 Pro-rich. nucleic acid binding|zinc ion binding ovary(1) 1 GGAGCTTCTGGGGCTCCTTGG 0.567 NA 9 27 3.09899e-07 4.44933e-07 0.004482 1 0 NRK 203447 broad.mit.edu 37 X 105153581 105153581 + Missense_Mutation SNP G G C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chrX:105153581G>C uc004emd.2 + 13 2251 c.1948G>C c.(1948-1950)GCA>CCA p.A650P NRK_uc010npc.1_Missense_Mutation_p.A318P NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Nik related kinase 650 ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1) 14 CTTGCTTCGGGCACCAAACTC 0.483 NA HNSCC(51;0.14) 3 9 0 0 0.004672 0 0 MUM1L1 139221 broad.mit.edu 37 X 105450147 105450147 + Nonsense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chrX:105450147C>A uc004emf.1 + 4 1371 c.722C>A c.(721-723)TCA>TAA p.S241* MUM1L1_uc004emg.1_Nonsense_Mutation_p.S241* NM_152423 NP_689636 Q5H9M0 MUML1_HUMAN melanoma associated antigen (mutated) 1-like 1 241 ovary(2)|pancreas(1)|skin(1) 4 CCACCTTTGTCACCTTTGTCA 0.428 NA 8 21 5.18039e-06 6.91726e-06 0.00308 1 0 GUCY2F 2986 broad.mit.edu 37 X 108696812 108696812 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chrX:108696812G>T uc004eod.3 - 4 1585 c.1309C>A c.(1309-1311)CCT>ACT p.P437T GUCY2F_uc011msq.1_RNA NM_001522 NP_001513 P51841 GUC2F_HUMAN guanylate cyclase 2F precursor 437 Extracellular (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity lung(4)|breast(3)|central_nervous_system(1) 8 AAGTGAATAGGGGTCCCTCCG 0.488 NA 11 47 1.49906e-05 1.97859e-05 0.00245 1 0 NKAP 79576 broad.mit.edu 37 X 119059199 119059199 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chrX:119059199C>A uc004esh.2 - 9 1399 c.1232G>T c.(1231-1233)GGG>GTG p.G411V NKAP_uc004esg.2_Missense_Mutation_p.G298V NM_024528 NP_078804 Q8N5F7 NKAP_HUMAN NFKB activating protein 411 Necessary for interaction with HDAC3 and transcriptional repression. negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|protein binding ovary(2) 2 GTCATCCTTCCCTTTGGTCTT 0.368 NA 20 94 4.35082e-09 6.57648e-09 0.001523 1 0 ELF4 2000 broad.mit.edu 37 X 129200733 129200733 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chrX:129200733G>T uc004evd.3 - 9 2340 c.1955C>A c.(1954-1956)CCT>CAT p.P652H ELF4_uc004eve.3_Missense_Mutation_p.P652H NM_001421 NP_001412 Q99607 ELF4_HUMAN E74-like factor 4 652 natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter PML body protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GAGGGAAGTAGGGTTGAATGG 0.547 NA T ERG AML 28 171 5.77227e-19 1.08348e-18 0.008361 1 0 USP26 83844 broad.mit.edu 37 X 132161952 132161952 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chrX:132161952G>T uc010nrm.1 - 6 767 c.297C>A c.(295-297)GAC>GAA p.D99E USP26_uc011mvf.1_Missense_Mutation_p.D99E NM_031907 NP_114113 Q9BXU7 UBP26_HUMAN ubiquitin-specific protease 26 99 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(3)|central_nervous_system(3)|kidney(1)|liver(1) 8 Acute lymphoblastic leukemia(192;0.000127) GATGAACTCTGTCCAAGAATA 0.388 NSCLC(104;342 1621 36940 47097 52632) NA 7 30 0.00198382 0.0024229 0.001984 1 0 DDX26B 203522 broad.mit.edu 37 X 134680705 134680705 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chrX:134680705G>T uc004eyw.3 + 5 871 c.508G>T c.(508-510)GCC>TCC p.A170S NM_182540 NP_872346 Q5JSJ4 DX26B_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 170 VWFA. 0 Acute lymphoblastic leukemia(192;6.56e-05) AAGGTTATTTGCCCTGGTGTT 0.468 NA 21 81 8.34094e-07 1.16824e-06 0.008871 1 0 FHL1 2273 broad.mit.edu 37 X 135291445 135291445 + Silent SNP T T A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chrX:135291445T>A uc004ezo.2 + 6 832 c.732T>A c.(730-732)GCT>GCA p.A244A FHL1_uc010nrz.2_Intron|FHL1_uc004ezm.2_Intron|FHL1_uc004ezl.2_Intron|FHL1_uc004ezq.2_Intron|FHL1_uc011mvy.1_Intron|FHL1_uc011mvz.1_Intron|FHL1_uc004ezn.2_Intron|FHL1_uc011mwa.1_Intron|FHL1_uc011mwb.1_Intron|FHL1_uc004ezp.2_Intron|FHL1_uc004ezr.2_Intron NM_001159702 NP_001153174 Q13642 FHL1_HUMAN four and a half LIM domains 1 isoform 1 244 cell differentiation|cell growth|muscle organ development|organ morphogenesis cytosol|nucleus|plasma membrane protein binding|zinc ion binding 0 Acute lymphoblastic leukemia(192;0.000127) TCTCTAAAGCTAGGAAGCCCC 0.572 NA OREG0019943 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 38 0 0 0.000602 0 0 SPANXN2 494119 broad.mit.edu 37 X 142795344 142795344 + Missense_Mutation SNP C C G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chrX:142795344C>G uc004fbz.2 - 2 1088 c.334G>C c.(334-336)GAC>CAC p.D112H NM_001009615 NP_001009615 Q5MJ10 SPXN2_HUMAN SPANX-N2 protein 112 ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) AGGTCTTCGTCCTCCTGTGAA 0.527 NA 48 385 0 0 0.00361 0 0 AFF2 2334 broad.mit.edu 37 X 147733577 147733577 + Silent SNP A A G rs144497911 byFrequency TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chrX:147733577A>G uc004fcp.2 + 2 584 c.105A>G c.(103-105)CAA>CAG p.Q35Q AFF2_uc004fco.2_Silent_p.Q35Q|AFF2_uc004fcq.2_Silent_p.Q35Q|AFF2_uc004fcr.2_Silent_p.Q35Q|AFF2_uc011mxb.1_Silent_p.Q35Q|AFF2_uc004fcs.2_Silent_p.Q35Q NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 35 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) GGAGGAATCAAGAAGTCCAGC 0.363 NA 28 87 0 0 0.008361 0 0 AFF2 2334 broad.mit.edu 37 X 147743554 147743554 + Silent SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chrX:147743554G>T uc004fcp.2 + 3 785 c.306G>T c.(304-306)GTG>GTT p.V102V AFF2_uc004fco.2_Silent_p.V98V|AFF2_uc004fcq.2_Silent_p.V98V|AFF2_uc004fcr.2_Silent_p.V98V|AFF2_uc011mxb.1_Silent_p.V102V|AFF2_uc004fcs.2_Silent_p.V98V NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 102 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) AGAATTCTGTGCCCCAGAATC 0.398 NA 82 117 8.00303e-49 1.62906e-48 0.00361 1 0 GPR50 9248 broad.mit.edu 37 X 150348412 150348412 + Silent SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chrX:150348412C>A uc010ntg.1 + 2 492 c.357C>A c.(355-357)ATC>ATA p.I119I uc004fes.1_5'Flank|GPR50_uc011myc.1_Silent_p.I119I NM_004224 NP_004215 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 119 Helical; Name=3; (Potential). cell-cell signaling integral to plasma membrane melatonin receptor activity large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) TCTTCAACATCGTGGCAATCG 0.542 NA 47 83 3.4345e-17 6.26693e-17 0.002852 1 0 FLNA 2316 broad.mit.edu 37 X 153593758 153593758 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chrX:153593758C>A uc004fkk.2 - 10 1775 c.1526G>T c.(1525-1527)GGC>GTC p.G509V FLNA_uc010nuu.1_Missense_Mutation_p.G509V NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 509 Filamin 3. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) ACTGCCAGCGCCCTTTGTGTA 0.672 NA 19 76 6.94344e-10 1.08536e-09 0.006122 1 0 ITGA8 8516 broad.mit.edu 37 10 15713635 15713636 + Frame_Shift_Ins INS - - A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr10:15713635_15713636insA uc001ioc.1 - 8 813_814 c.813_814insT c.(811-816)GTTGCTfs p.V271fs ITGA8_uc010qcb.1_Intron NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 271_272 Extracellular (Potential).|FG-GAP 4. cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 TCCCCAGCAGCAACTGAGTATC 0.371 NA 11 14 --- --- --- --- NA NA NA NA NA BMS1 9790 broad.mit.edu 37 10 43316126 43316126 + Frame_Shift_Del DEL A A - TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr10:43316126delA uc001jaj.2 + 17 3298 c.2940delA c.(2938-2940)GCAfs p.A980fs NM_014753 NP_055568 Q14692 BMS1_HUMAN BMS1-like, ribosome assembly protein 980 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity ovary(2)|upper_aerodigestive_tract(1) 3 ATTGCGGAGCAGCCTTTTGGG 0.408 NA 11 43 --- --- --- --- NA NA NA NA NA PLCE1 51196 broad.mit.edu 37 10 96084675 96084675 + Frame_Shift_Del DEL C C - TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr10:96084675delC uc001kjk.2 + 32 7381 c.6747delC c.(6745-6747)GGCfs p.G2249fs PLCE1_uc010qnx.1_Frame_Shift_Del_p.G2233fs|PLCE1_uc001kjm.2_Frame_Shift_Del_p.G1941fs|PLCE1_uc001kjp.2_Frame_Shift_Del_p.G607fs NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 2249 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity ovary(2)|skin(1) 3 Colorectal(252;0.0458) AAAAGAAAGGCATTTCTTTCG 0.428 NA 26 39 --- --- --- --- NA NA NA NA NA TUBGCP2 10844 broad.mit.edu 37 10 135093312 135093312 + Frame_Shift_Del DEL C C - TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr10:135093312delC uc001lmg.1 - 18 3024 c.2667delG c.(2665-2667)GGGfs p.G889fs ADAM8_uc010quz.1_5'Flank|ADAM8_uc009ybi.2_5'Flank|ADAM8_uc010qva.1_5'Flank|ADAM8_uc009ybj.1_5'Flank|TUBGCP2_uc001lmf.1_Frame_Shift_Del_p.G482fs|TUBGCP2_uc010qvc.1_Frame_Shift_Del_p.G917fs|TUBGCP2_uc009ybk.1_Frame_Shift_Del_p.G912fs|TUBGCP2_uc010qvd.1_Frame_Shift_Del_p.G759fs|TUBGCP2_uc001lmh.1_RNA NM_006659 NP_006650 Q9BSJ2 GCP2_HUMAN tubulin, gamma complex associated protein 2 889 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytoplasmic microtubule|cytosol|spindle pole protein binding 0 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05) GAGCCGGGGGCCCCCGCAGGA 0.647 NA 5 11 --- --- --- --- NA NA NA NA NA ATM 472 broad.mit.edu 37 11 108115600 108115601 + Frame_Shift_Del DEL CG CG - rs56123940 TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 CG CG - - CG CG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:108115600_108115601delCG uc001pkb.1 + 7 1133_1134 c.748_749delCG c.(748-750)CGAfs p.R250fs ATM_uc009yxr.1_Frame_Shift_Del_p.R250fs NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 250 R -> Q. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) CTTTCGAATTCGAGTGTGTGAA 0.337 NA D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) 20 63 --- --- --- --- NA NA NA NA NA ATM 472 broad.mit.edu 37 11 108186559 108186559 + Frame_Shift_Del DEL T T - TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:108186559delT uc001pkb.1 + 41 6401 c.6016delT c.(6016-6018)TTAfs p.L2006fs ATM_uc009yxr.1_Frame_Shift_Del_p.L2006fs|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.1_Frame_Shift_Del_p.L658fs|ATM_uc001pkg.1_Frame_Shift_Del_p.L363fs|ATM_uc009yxt.1_Frame_Shift_Del_p.L120fs NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 2006 FAT. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GGATCTTCTCTTAGAAATCTA 0.323 NA D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) 13 33 --- --- --- --- NA NA NA NA NA JUP 3728 broad.mit.edu 37 17 39680687 39680688 + Frame_Shift_Ins INS - - T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:39680687_39680688insT uc010wfs.1 - 7 1262_1263 c.1254_1255insA c.(1252-1257)CAATATfs p.Q418fs KRT15_uc002hxb.1_5'Flank|uc002hxc.1_5'Flank|KRT19_uc002hxd.3_Frame_Shift_Ins_p.Q255fs NM_021991 NP_068831 P14923 PLAK_HUMAN junction plakoglobin Error:Variant_position_missing_in_P14923_after_alignment adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity ovary(2)|lung(2)|breast(1) 5 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) ATGACCTCATATTGGCTTCGCA 0.604 Colon(16;42 520 6044 17852 28530) NA 13 102 --- --- --- --- NA NA NA NA NA SC65 10609 broad.mit.edu 37 17 39964116 39964116 + Frame_Shift_Del DEL G G - TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:39964116delG uc002hxt.2 - 5 1341 c.1057delC c.(1057-1059)CGGfs p.R353fs SC65_uc002hxu.2_Frame_Shift_Del_p.R444fs NM_006455 NP_006446 Q92791 SC65_HUMAN synaptonemal complex protein SC65 353 Asp/Glu-rich (acidic). synaptonemal complex assembly nucleolus|synaptonemal complex binding 0 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(366;0.149) CCCACCTCCCGGGGCTGGAAG 0.483 NA 18 31 --- --- --- --- NA NA NA NA NA STK11 6794 broad.mit.edu 37 19 1221254 1221254 + Frame_Shift_Del DEL C C - TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr19:1221254delC uc002lrl.1 + 6 1892 c.777delC c.(775-777)AACfs p.N259fs NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 259 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(19)|p.?(2)|p.Y246fs*3(1) lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1) 266 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) AAGGGGACAACATCTACAAGT 0.582 14 D|Mis|N|F|S NSCLC|pancreatic jejunal harmartoma|ovarian|testicular|pancreatic Peutz-Jeghers_syndrome TSP Lung(3;<1E-08) 22 8 --- --- --- --- NA NA NA NA NA NCAM2 4685 broad.mit.edu 37 21 22658718 22658718 + Frame_Shift_Del DEL C C - TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr21:22658718delC uc002yld.1 + 4 716 c.467delC c.(466-468)ACCfs p.T156fs NCAM2_uc011acb.1_Intron|NCAM2_uc011acc.1_Frame_Shift_Del_p.T181fs NM_004540 NP_004531 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 precursor 156 Ig-like C2-type 2.|Extracellular (Potential). neuron cell-cell adhesion integral to membrane|plasma membrane ovary(4) 4 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) GAGGAAGTCACCACTATTTCC 0.383 NA 8 47 --- --- --- --- NA NA NA NA NA SBF1 6305 broad.mit.edu 37 22 50894982 50894982 + Frame_Shift_Del DEL G G - TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr22:50894982delG uc003blh.2 - 30 4220 c.4025delC c.(4024-4026)CCGfs p.P1342fs SBF1_uc003ble.2_5'Flank|SBF1_uc003blf.2_5'Flank|SBF1_uc011arx.1_Frame_Shift_Del_p.P980fs NM_002972 NP_002963 O95248 MTMR5_HUMAN SET binding factor 1 1316 Myotubularin phosphatase. protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) CAGGAAGCCCGGGTCGGGAGG 0.711 NA 2 4 --- --- --- --- NA NA NA NA NA ALDH1L1 10840 broad.mit.edu 37 3 125836866 125836866 + Frame_Shift_Del DEL C C - TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr3:125836866delC uc003eim.1 - 17 2154 c.1964delG c.(1963-1965)GGCfs p.G655fs ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Frame_Shift_Del_p.G554fs|ALDH1L1_uc003ein.1_5'Flank NM_012190 NP_036322 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 655 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) GATGTGCTTGCCCACCTCTGT 0.632 NA 18 30 --- --- --- --- NA NA NA NA NA PCDH7 5099 broad.mit.edu 37 4 30921902 30921903 + Frame_Shift_Ins INS - - A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr4:30921902_30921903insA uc011bxx.1 + 2 4310_4311 c.3302_3303insA c.(3301-3303)CCAfs p.P1101fs PCDH7_uc011bxw.1_Frame_Shift_Ins_p.P1054fs NM_002589 NP_002580 O60245 PCDH7_HUMAN protocadherin 7 isoform a precursor Error:Variant_position_missing_in_O60245_after_alignment homophilic cell adhesion integral to plasma membrane calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1) 4 TCATCAGGGCCAAGACTGGGTG 0.554 NA 11 43 --- --- --- --- NA NA NA NA NA